AiPD: Autoinhibited Protein Database

Q96TC7

Gene name	RMDN3 (FAM82A2, FAM82C, PTPIP51)
Protein name	Regulator of microtubule dynamics protein 3
Names	RMD-3, hRMD-3, Cerebral protein 10, Protein FAM82A2, Protein FAM82C, Protein tyrosine phosphatase-interacting protein 51, TCPTP-interacting protein 51
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55177
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

9-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

9-84 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for Q96TC7

Entry ID	Method	Resolution	Chain	Position	Source
7CC7	X-ray	145 A	A	236-470	PDB
AF-Q96TC7-F1	Predicted				AlphaFoldDB

410 variants for Q96TC7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs920916054 CA268844006	2	S>C		No	ClinGen gnomAD
CA391750940 rs1368339655	5	G>V		No	ClinGen gnomAD
CA7484752 rs756385668	6	A>D		No	ClinGen ExAC gnomAD
rs1462026914 CA391750931	7	L>V		No	ClinGen TOPMed gnomAD
rs1462150823 CA391750920	8	G>D		No	ClinGen TOPMed
rs781048598 CA7484750	10	A>S		No	ClinGen ExAC TOPMed gnomAD
rs975377139 CA268843990	10	A>V		No	ClinGen Ensembl
CA391750895 rs1474549659	11	R>C		No	ClinGen TOPMed gnomAD
CA391750898 rs1474549659	11	R>S		No	ClinGen TOPMed gnomAD
CA391750882 rs1421161912	12	A>V		No	ClinGen TOPMed
rs576696726 CA7484747	13	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA391750867 rs1486746451	14	L>V		No	ClinGen gnomAD
CA7484746 rs758022178	15	G>E		No	ClinGen ExAC gnomAD
TCGA novel	18	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749976107 CA7484745	19	G>C		No	ClinGen ExAC TOPMed gnomAD
CA7484744 rs764737338	20	T>S		No	ClinGen ExAC gnomAD
CA391750799 rs1231309818	21	A>T		No	ClinGen gnomAD
rs373421923 CA7484742	21	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1019475641 CA268843984	24	L>R		No	ClinGen TOPMed
rs767980419 CA7484741	24	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7484739 rs11558807 VAR_049029	33	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760011639 CA391750680	33	Q>P		No	ClinGen ExAC TOPMed
rs760011639 CA7484740	33	Q>R		No	ClinGen ExAC TOPMed
CA391750671 rs1397999690	34	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs995456912 CA268843977	35	W>*		No	ClinGen TOPMed
CA7484738 rs771455115	35	W>R		No	ClinGen ExAC gnomAD
CA268843975 rs898202068	37	R>P		No	ClinGen TOPMed gnomAD
CA391750640 rs1460280911	37	R>W		No	ClinGen gnomAD
CA7484737 rs762975645	38	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7484736 rs369519759	39	Q>R		No	ClinGen ESP ExAC TOPMed
rs1031696317 CA268843969	40	R>H		No	ClinGen Ensembl
rs769844078 CA7484734	41	H>R		No	ClinGen ExAC
rs1596060579 CA391750591	42	G>S		No	ClinGen Ensembl
rs137881723 CA7484732	43	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461293725 CA391750578	43	R>H		No	ClinGen TOPMed
CA268843962 rs906935819	48	P>L		No	ClinGen TOPMed gnomAD
rs906935819 CA391750519	48	P>R		No	ClinGen TOPMed gnomAD
rs904561403 CA268843960	49	N>D		No	ClinGen Ensembl
rs1193247919 CA391750508	49	N>K		No	ClinGen TOPMed
rs768546579 CA7484731	49	N>T		No	ClinGen ExAC gnomAD
rs746912543 CA7484730	51	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1207939880 CA391750488	52	D>N		No	ClinGen gnomAD
rs780099452 CA7484729	52	D>V		No	ClinGen ExAC gnomAD
rs945914796 CA268843952	53	Y>C		No	ClinGen TOPMed gnomAD
rs1342169127 CA391750456	54	T>M		No	ClinGen TOPMed gnomAD
rs896022734 CA391750409	59	P>S		No	ClinGen TOPMed gnomAD
CA268843948 rs896022734	59	P>T		No	ClinGen TOPMed gnomAD
CA268843946 rs1057301564	62	H>R		No	ClinGen TOPMed
CA391749787 rs1395700987	64	M>T		No	ClinGen gnomAD
rs1434410807 CA391749801	64	M>V		No	ClinGen TOPMed gnomAD
rs758895910 CA7484700	65	L>P		No	ClinGen ExAC gnomAD
rs758895910 CA7484701	65	L>R		No	ClinGen ExAC gnomAD
rs200360732 CA7484698	67	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7484699 rs750990559	67	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201589918 CA7484696	69	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1566811473 CA391749695	69	V>L		No	ClinGen Ensembl
rs761043769 CA7484694	70	P>S		No	ClinGen ExAC gnomAD
CA391749658 rs1596057788	71	G>D		No	ClinGen Ensembl
TCGA novel	73	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7484692 rs772039493	75	D>E		No	ClinGen ExAC gnomAD
CA391749453 rs1342771040	81	S>N		No	ClinGen TOPMed gnomAD
CA7484689 rs770791499	83	P>L		No	ClinGen ExAC TOPMed gnomAD
CA268840913 rs767282244	84	R>Q		No	ClinGen TOPMed gnomAD
CA7484688 rs201793784	84	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391749367 rs1232323865	85	E>D		No	ClinGen TOPMed
TCGA novel	87	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	88	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268840911 rs917852983	89	K>R		No	ClinGen TOPMed
rs777156376 CA7484687	90	V>A		No	ClinGen ExAC gnomAD
rs1408244076 CA391749221	91	L>P		No	ClinGen TOPMed gnomAD
rs755762712 CA7484686	93	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780376746 CA7484685	93	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780376746 CA7484684	93	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1478800461 CA391749097	99	T>A		No	ClinGen TOPMed gnomAD
CA391749055 rs1186987378	101	L>R		No	ClinGen gnomAD
rs750785226 CA7484682	102	V>G		No	ClinGen ExAC gnomAD
CA391749042 rs1438958865	102	V>L		No	ClinGen gnomAD
CA7484681 rs371753048	103	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7484679 rs753946918	104	L>V		No	ClinGen ExAC gnomAD
rs760955254 CA7484677	105	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764325803 CA7484678	105	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755740334 CA7484675	106	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755740334 CA7484676	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1320647808 CA391749004	106	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1458323354 CA391748987	107	E>A		No	ClinGen TOPMed
rs1458323354 CA391748985	107	E>G		No	ClinGen TOPMed
CA7484672 rs770838874	108	V>G		No	ClinGen ExAC gnomAD
CA7484673 rs774026174	108	V>M		No	ClinGen ExAC gnomAD
CA7484671 rs749254527	109	E>V		No	ClinGen ExAC TOPMed gnomAD
CA268840895 rs80143166	110	E>G		No	ClinGen gnomAD
CA268840897 rs954172930	110	E>K		No	ClinGen Ensembl
CA268840894 rs80143166	110	E>V		No	ClinGen gnomAD
rs998210414 CA268840890	112	R>S		No	ClinGen gnomAD
CA7484669 rs769345413	114	S>I		No	ClinGen ExAC
rs200285306 CA7484668	116	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7484667 rs200285306	116	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1020909859 CA268840885	117	G>E		No	ClinGen gnomAD
rs746187145 CA7484666	119	A>E		No	ClinGen ExAC TOPMed gnomAD
rs746187145 CA7484665	119	A>V		No	ClinGen ExAC TOPMed gnomAD
CA268840880 rs968094286	120	G>A		No	ClinGen TOPMed
rs757769405 CA7484663	120	G>R		No	ClinGen ExAC gnomAD
rs1596057454 CA391748791	121	E>G		No	ClinGen Ensembl
TCGA novel	122	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777968234 CA7484661	123	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7484662 rs754348690	123	V>F		No	ClinGen ExAC gnomAD
rs754504896 CA268840863	126	V>L		No	ClinGen Ensembl
CA7484660 rs756219717	127	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA268840850 rs36040588	127	R>Q		No	ClinGen TOPMed gnomAD
rs1293319292 CA391747336	128	C>R		No	ClinGen TOPMed gnomAD
rs761744970 CA7484630	129	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1165844191 CA391747266	130	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs973035612 CA268840721	131	E>K		No	ClinGen TOPMed
rs776105230 CA7484629	138	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7484627 rs760341626	138	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7484628 rs760341626	138	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA268840715 rs776105230	138	R>W		No	ClinGen ExAC TOPMed gnomAD
rs370775435 CA268840709	139	R>Q		No	ClinGen ESP TOPMed gnomAD
CA7484626 rs774963455	139	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771775223 CA7484625	140	R>*		No	ClinGen ExAC gnomAD
CA268840704 rs201085900	140	R>Q		No	ClinGen 1000Genomes gnomAD
rs941662138 CA268840699	141	R>T		No	ClinGen Ensembl
CA7484623 rs773712861	142	F>V		No	ClinGen ExAC gnomAD
CA7484621 rs553491618	143	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553491618 CA7484622	143	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758632389 CA7484616	146	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7484617 rs758632389	146	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7484618 rs747144620	146	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1249756281 CA391746821	147	E>K		No	ClinGen gnomAD
rs750153426 CA7484615	148	R>S		No	ClinGen ExAC gnomAD
CA268840667 rs865793154	149	S>G		No	ClinGen Ensembl
rs765074201 CA7484614	152	T>A		No	ClinGen ExAC TOPMed gnomAD
CA391746671 rs765074201	152	T>P		No	ClinGen ExAC TOPMed gnomAD
CA391746592 rs1251289439	154	S>F		No	ClinGen TOPMed
TCGA novel	155	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757163306 CA7484613	156	S>F		No	ClinGen ExAC gnomAD
CA7484612 rs753811073	157	V>D		No	ClinGen ExAC gnomAD
CA7484611 rs764121868	158	Y>F		No	ClinGen ExAC
CA7484610 rs376879725	160	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs775077027 CA7484609	162	S>F		No	ClinGen ExAC gnomAD
rs1234847422 CA391746321	162	S>P		No	ClinGen TOPMed
rs573855739 CA7484608	163	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573855739 CA7484607	163	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1474415776 CA391746247	164	G>E		No	ClinGen TOPMed gnomAD
CA268840645 rs764563213	165	A>G		No	ClinGen Ensembl
rs748637473 CA7484604	166	T>M		No	ClinGen ExAC TOPMed gnomAD
rs760942703 CA7484605	166	T>P		No	ClinGen ExAC TOPMed gnomAD
CA391746163 rs760942703	166	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1447020057 CA391745977	169	D>E		No	ClinGen TOPMed
CA391745957 rs1195322686	170	A>G		No	ClinGen gnomAD
CA268840637 rs769229479	174	G>A		No	ClinGen ExAC TOPMed gnomAD
rs769229479 CA391745825	174	G>E		No	ClinGen ExAC TOPMed gnomAD
rs769229479 CA7484602	174	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1458126435 CA391745829	174	G>W		No	ClinGen gnomAD
rs1596048623 CA391743469	178	T>P		No	ClinGen Ensembl
TCGA novel	179	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268838715 rs960564928	180	N>I		No	ClinGen TOPMed gnomAD
CA391743424 rs960564928	180	N>S		No	ClinGen TOPMed gnomAD
CA7484583 rs144106216	181	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1333876743 CA391743388	182	E>D		No	ClinGen TOPMed
CA7484581 rs772178902	183	S>T		No	ClinGen ExAC gnomAD
rs748966326 CA7484577	187	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7484578 rs771152595	187	R>W		No	ClinGen ExAC gnomAD
rs1382189176 CA391743305	188	D>E		No	ClinGen gnomAD
rs372835028 CA268838701 COSM1301080	188	D>N	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
TCGA novel	188	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268838700 rs183230311	191	K>R		No	ClinGen 1000Genomes gnomAD
CA7484576 rs369389009	192	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7484575 rs755989202	193	S>G		No	ClinGen ExAC TOPMed gnomAD
CA268838691 rs761686647	194	E>K		No	ClinGen Ensembl
CA7484571 rs754502218	196	G>R		No	ClinGen ExAC TOPMed gnomAD
CA391743202 rs766073179	197	E>D		No	ClinGen ExAC gnomAD
rs751140051 CA7484570	197	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1360868391 CA391743188	198	D>E		No	ClinGen Ensembl
TCGA novel	198	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7484568 rs762671209	198	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA268838677 rs1028895848	200	V>M		No	ClinGen Ensembl
CA7484567 rs754150342	201	S>T		No	ClinGen ExAC gnomAD
rs1401597744 CA391743144	202	C>F		No	ClinGen TOPMed gnomAD
TCGA novel	202	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7484566 rs764579558	203	E>*		No	ClinGen ExAC gnomAD
rs761053500 CA7484565	205	V>L		No	ClinGen ExAC TOPMed gnomAD
CA268838658 rs761053500	205	V>M		No	ClinGen ExAC TOPMed gnomAD
CA268838652 rs200596172	210	K>*		No	ClinGen 1000Genomes
CA7484563 rs192436560	212	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391743030 rs192436560	212	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA268838645 rs374051233	213	L>P		No	ClinGen ESP TOPMed
rs774415010 CA7484561	216	E>A		No	ClinGen ExAC TOPMed gnomAD
CA7484559 rs148983629	218	E>Q		No	ClinGen ESP ExAC TOPMed
CA7484556 rs769673003	220	A>V		No	ClinGen ExAC gnomAD
rs747930139 CA7484555	221	S>L		No	ClinGen ExAC gnomAD
rs781230285 CA7484554	223	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1489042761 CA391742924	224	S>P		No	ClinGen gnomAD
CA268838625 rs901714934	225	S>N		No	ClinGen TOPMed
rs901714934 CA391742917	225	S>T		No	ClinGen TOPMed
CA391742910 rs1442484009	226	A>V		No	ClinGen gnomAD
CA268838612 rs759225626	227	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	227	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	229	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391742865 rs1277921585	231	G>D		No	ClinGen TOPMed gnomAD
CA391742862 rs1277921585	231	G>V		No	ClinGen TOPMed gnomAD
rs1009660948 CA268838607	235	L>F		No	ClinGen gnomAD
TCGA novel	236	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757975537 CA7484548	237	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1474663983 CA391742796	237	D>G		No	ClinGen TOPMed
rs750129928 CA7484547	238	V>G		No	ClinGen ExAC gnomAD
CA391742790 rs1311271633	238	V>M		No	ClinGen gnomAD
TCGA novel	239	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7484546 rs764827098	239	L>M		No	ClinGen ExAC gnomAD
rs761050967 CA7484545	244	Q>R		No	ClinGen ExAC gnomAD
CA7484541 rs774398653	246	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7484542 rs760097909	246	D>N		No	ClinGen ExAC gnomAD
rs763057143 CA7484539	247	E>D		No	ClinGen ExAC TOPMed gnomAD
rs766526664 CA7484540	247	E>K	Variant assessed as Somatic; 9.248e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766526664 CA391742684	247	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs751276979 CA268838576	248	L>M		No	ClinGen Ensembl
rs138926563 CA7484538	250	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747922204 CA7484536	251	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7484537 rs769936281	251	G>S		No	ClinGen ExAC TOPMed gnomAD
rs776572463 CA7484535	255	G>A		No	ClinGen ExAC gnomAD
CA268838564 rs918101793	255	G>S		No	ClinGen Ensembl
rs1320437344 CA391742575	256	K>R		No	ClinGen gnomAD
rs199637427 CA7484532	257	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199637427 CA268838556	257	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150277172 CA7484534	257	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7484531 rs757884055	258	E>G		No	ClinGen ExAC
CA391742523 rs1596047946	259	G>A		No	ClinGen Ensembl
rs1380200214 CA391742532	259	G>S		No	ClinGen TOPMed gnomAD
CA7484530 rs745390177	260	F>S		No	ClinGen ExAC gnomAD
rs1445603373 CA391742499	261	Q>*		No	ClinGen TOPMed
rs778569902 CA7484529	265	N>D		No	ClinGen ExAC TOPMed gnomAD
rs756864012 CA7484528	265	N>S		No	ClinGen ExAC gnomAD
rs1247675788 CA391742407	266	N>D		No	ClinGen TOPMed
CA391742369 rs1479265630	268	L>V		No	ClinGen TOPMed
rs1396249125 CA391742154	270	Y>C		No	ClinGen gnomAD
CA7484481 rs747311347	271	G>E		No	ClinGen ExAC gnomAD
rs769453407 CA7484482	271	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1400791714 CA391742124	272	S>N		No	ClinGen gnomAD
rs201035155 CA391742107	273	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750943095 CA7484478	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7484479 COSM268261 rs201035155	273	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA391742054 rs1169223961	274	Q>H		No	ClinGen gnomAD
CA7484477 rs146543934	277	L>V		No	ClinGen ESP ExAC
CA7484475 rs757361415	278	W>*		No	ClinGen ExAC gnomAD
rs753978472 CA7484474	279	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM961294 CA7484473 rs144235442	279	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA391741960 rs144235442	279	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201829056 CA7484470	281	A>V		No	ClinGen 1000Genomes ExAC
CA7484469 rs759483521	282	R>*		No	ClinGen ExAC TOPMed gnomAD
rs759483521 CA268838187	282	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7484468 rs775881556	282	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7484467 rs775881556	282	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7484466 rs762395512	284	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA7484461 COSM1470733 rs201577678	287	M>I	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7484463 rs747812998	287	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7484464 rs188268723	287	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs960787411 CA268838180	288	C>Y		No	ClinGen TOPMed gnomAD
CA7484460 rs780445595	289	E>D		No	ClinGen ExAC gnomAD
CA391741669 rs1465565224	292	E>D		No	ClinGen gnomAD
rs899696457 CA268838168	293	E>D		No	ClinGen TOPMed gnomAD
rs1015350380 CA268838171	293	E>V		No	ClinGen TOPMed
rs1221990784 CA7484456	294	V>A		No	ClinGen Ensembl
rs1221990784 CA391741601	294	V>G		No	ClinGen Ensembl
CA391741561 rs746277197	295	S>I		No	ClinGen ExAC gnomAD
CA7484455 rs746277197	295	S>N		No	ClinGen ExAC gnomAD
CA391741533 rs1294229352	296	E>D		No	ClinGen TOPMed
rs200641467 CA7484452	296	E>K		No	ClinGen ESP ExAC gnomAD
CA391741470 rs1208657420	298	K>N		No	ClinGen TOPMed gnomAD
CA7484449 rs753962117	301	A>T		No	ClinGen ExAC gnomAD
CA391741388 rs1177861225	301	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753399611 CA268836768	305	K>N		No	ClinGen Ensembl
CA7484423 rs140567344	307	E>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	309	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7484421 rs748280204	309	E>Q		No	ClinGen ExAC gnomAD
rs989225061 CA268836758	310	A>T		No	ClinGen TOPMed
CA268836755 rs781216400	311	A>P		No	ClinGen ExAC gnomAD
CA7484420 rs781216400	311	A>T		No	ClinGen ExAC gnomAD
CA391739086 rs1596041514	316	D>G		No	ClinGen Ensembl
rs1377935313 CA391739071	317	E>K		No	ClinGen gnomAD
rs755235757 CA7484418	318	S>N		No	ClinGen ExAC gnomAD
CA391739006 rs1596041492	318	S>R		No	ClinGen Ensembl
rs755235757 CA391739013	318	S>T		No	ClinGen ExAC gnomAD
rs777219338 CA7484417	319	A>D		No	ClinGen ExAC TOPMed gnomAD
CA268836751 rs777219338	319	A>V		No	ClinGen ExAC TOPMed gnomAD
rs151276576 CA391738981	320	D>H		No	ClinGen ESP ExAC gnomAD
rs151276576 CA7484416	320	D>N		No	ClinGen ESP ExAC gnomAD
rs750401021 CA7484414	321	C>Y		No	ClinGen ExAC gnomAD
rs761181884 CA7484412	322	H>Q		No	ClinGen ExAC gnomAD
CA391737761 rs1399207325	324	W>C		No	ClinGen gnomAD
CA391737693 rs142146927	326	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA391737700 rs1596039631	326	A>T		No	ClinGen Ensembl
CA7484386 rs142146927	326	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA391737581 rs1411143989	329	C>R		No	ClinGen gnomAD
rs770200666 CA7484383	330	G>A		No	ClinGen ExAC gnomAD
rs770200666 CA391737480	330	G>V		No	ClinGen ExAC gnomAD
CA7484382 rs762444208	331	Q>E		No	ClinGen ExAC gnomAD
rs1185903498 CA391737471	331	Q>R		No	ClinGen gnomAD
CA7484381 rs776555096	333	A>G		No	ClinGen ExAC gnomAD
rs1199628441 CA391737355	335	H>R		No	ClinGen gnomAD
CA7484378 rs1555430612	336	E>D		No	ClinGen Ensembl
CA391737338 rs1162582006	336	E>K		No	ClinGen TOPMed gnomAD
rs534428787 CA7484377	337	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1287981272 CA391737200	340	R>K		No	ClinGen gnomAD
CA7484376 rs780201716	341	R>C		No	ClinGen ExAC gnomAD
CA7484375 rs772297262	341	R>H		No	ClinGen ExAC gnomAD
CA7484374 rs745656794	342	I>M		No	ClinGen ExAC gnomAD
CA7484373 rs778825235	344	S>N		No	ClinGen ExAC gnomAD
rs1238537347 CA391737105	347	S>G		No	ClinGen TOPMed
rs566922308 CA7484372	349	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756123686 CA7484351	350	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7484350 rs756123686	350	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1487964375 CA391736849	351	H>Q		No	ClinGen gnomAD
TCGA novel	351	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747658608 CA7484349	352	V>G		No	ClinGen ExAC
rs1202136140 CA391736823	353	D>G		No	ClinGen TOPMed
CA7484348 rs780908773	354	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7484347 rs754655723	355	A>G		No	ClinGen ExAC gnomAD
CA391736783 rs1483527459	355	A>P		No	ClinGen TOPMed
rs754655723 CA391736761	355	A>V		No	ClinGen ExAC gnomAD
rs148669324 CA7484345	356	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA391736750 rs1202050204	356	I>V		No	ClinGen TOPMed
rs757596064 CA7484344	357	A>V		No	ClinGen ExAC gnomAD
rs1474240666 CA391736610	362	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754170561 CA7484343	363	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7484342 rs764521318	363	P>L		No	ClinGen ExAC gnomAD
rs754170561 CA391736589	363	P>S		No	ClinGen ExAC TOPMed gnomAD
rs376231723 CA7484340	364	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7484341 rs376231723	364	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391736529 rs1357899508	366	H>R		No	ClinGen gnomAD
CA391736490 rs1176038451	368	L>P		No	ClinGen gnomAD
rs1431990575 CA391736474	369	L>P		No	ClinGen gnomAD
rs1470500869 CA391736480	369	L>V		No	ClinGen gnomAD
rs1191702953 CA391736419	372	W>*		No	ClinGen TOPMed gnomAD
CA7484339 rs767621061	372	W>C		No	ClinGen ExAC gnomAD
CA391736420 rs1596038657	372	W>G		No	ClinGen Ensembl
rs759639779 CA7484338	373	C>Y		No	ClinGen ExAC gnomAD
rs771071312 CA7484336	374	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1596038619 CA391736316	375	Q>R		No	ClinGen Ensembl
CA7484310 rs776666230	376	V>F		No	ClinGen ExAC gnomAD
rs201314462 CA7484308	376	V>G		No	ClinGen ExAC gnomAD
rs745544738 CA7484304	377	S>P		No	ClinGen ExAC
rs190232842 CA7484301	378	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781612711 CA7484300	378	H>Q		No	ClinGen ExAC gnomAD
rs190232842 CA7484302	378	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755502599 CA7484298	379	L>P		No	ClinGen ExAC
CA7484294 rs750634533	383	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1567061055 CA391735851	384	K>N		No	ClinGen Ensembl
TCGA novel	384	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7484293 rs377218919	385	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350934040 CA391735839	385	K>Q		No	ClinGen gnomAD
rs745408248	386	T>L	Variant assessed as Somatic; 0.0006468 impact. [NCI-TCGA]	No	NCI-TCGA
rs867578589 CA7484290	386	T>N		No	ClinGen Ensembl
rs1238961053 CA391735767	387	A>T		No	ClinGen gnomAD
rs1336664087 CA391735725	388	T>I		No	ClinGen gnomAD
CA268835643 rs951308692	389	A>D		No	ClinGen TOPMed
rs986557588 CA268835646	389	A>T		No	ClinGen TOPMed
CA391735700 rs1309635975	390	L>S		No	ClinGen gnomAD
rs761646686 CA7484288	391	L>V		No	ClinGen ExAC gnomAD
CA7484286 rs202155220	393	S>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	393	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760575607 CA7484285	394	P>L		No	ClinGen ExAC gnomAD
rs1358774911 CA391735536	395	L>F		No	ClinGen gnomAD
rs1358774911 CA391735549	395	L>V		No	ClinGen gnomAD
rs1465925058 CA391735517	396	S>N		No	ClinGen TOPMed
CA7484284 rs775030407	397	A>T		No	ClinGen ExAC gnomAD
rs745401087 CA7484282	399	V>M		No	ClinGen ExAC gnomAD
CA391735410 rs1567060976	401	D>G		No	ClinGen Ensembl
CA7484281 rs778478991	402	A>G		No	ClinGen ExAC gnomAD
TCGA novel	404	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs974085696 CA268835627	405	S>R		No	ClinGen TOPMed gnomAD
rs770574225 CA7484280	405	S>T		No	ClinGen ExAC gnomAD
rs1284700003 CA391735294	407	L>P		No	ClinGen gnomAD
CA391735301 rs1486982190	407	L>V		No	ClinGen gnomAD
CA268855521 rs200189558	409	A>T		No	ClinGen Ensembl
rs1452346224 CA391763243	411	E>D		No	ClinGen TOPMed
rs772056920 CA7484264	412	L>V		No	ClinGen ExAC gnomAD
CA7484263 rs561800012	414	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs541593706 CA7484261	420	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1332029790 CA391763118 CA391763117	421	R>S		No	ClinGen TOPMed gnomAD
CA7484260 rs748987853	422	V>L		No	ClinGen ExAC gnomAD
CA391763099 rs1406478756	424	I>T		No	ClinGen gnomAD
CA391763093 rs1454358389	425	S>Y		No	ClinGen TOPMed
rs777024767 CA7484259	426	K>R		No	ClinGen ExAC gnomAD
CA7484238 rs747273776	429	R>K		No	ClinGen ExAC gnomAD
CA7484237 rs749649385	430	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1274699643 CA391762957	434	N>I		No	ClinGen TOPMed
rs200908905 CA7484234	435	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7484231 rs757361158	439	W>R		No	ClinGen ExAC gnomAD
rs1237880767 CA391762922	439	W>S		No	ClinGen gnomAD
CA7484230 rs749388553	440	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1362072598 CA391762903	441	M>I		No	ClinGen TOPMed
CA7484229 rs558214361	442	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1347731807 CA391762877	445	L>P		No	ClinGen gnomAD
CA7484228 rs756424658	446	E>D		No	ClinGen ExAC TOPMed gnomAD
rs752421785 CA7484227	447	L>P		No	ClinGen ExAC gnomAD
rs754877371 CA7484225	449	D>H		No	ClinGen ExAC gnomAD
TCGA novel	450	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7484223 rs534995621	451	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA391762836 rs1397823052	452	K>R		No	ClinGen TOPMed
CA391762773 rs1567060263	459	K>R		No	ClinGen Ensembl
CA391762745 rs1289896805	463	E>*		No	ClinGen TOPMed gnomAD
CA391762741 rs761343703	463	E>D		No	ClinGen ExAC TOPMed gnomAD
CA391762736 rs1176204363	464	L>P		No	ClinGen gnomAD
rs1567060223 CA391762732	465	E>*		No	ClinGen Ensembl
CA391762725 rs1431691568	466	V>I		No	ClinGen gnomAD
rs879690822 CA268854717	469	R>*		No	ClinGen TOPMed
CA391762706 rs879690822	469	R>G		No	ClinGen TOPMed
CA7484193 rs370466451	469	R>L		No	ClinGen ExAC gnomAD
CA7484192 rs370466451	469	R>Q		No	ClinGen ExAC gnomAD
CA391762697 rs1262528671	470	D>E		No	ClinGen gnomAD
CA391762695 rs1188145921	471	D>Q		No	ClinGen TOPMed gnomAD

No associated diseases with Q96TC7

1 regional properties for Q96TC7

Type	Name	Position	InterPro Accession
domain	Arginine N-methyltransferase 2-like domain	189 - 412	IPR026480

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion outer membrane ; Single-pass membrane protein Cytoplasm Nucleus Cytoplasm, cytoskeleton, spindle Cytoplasm, cytoskeleton, spindle pole	In interphase localizes in the cytoplasm, and during mitosis localizes to the spindle microtubules and spindle poles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intercellular bridge	A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
mitochondrial outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
mitotic spindle pole	Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
organelle membrane contact site	A zone of apposition between the membranes of an organelle with another membrane, either another membrane of the same organelle, a membrane of another organelle, or the plasma membrane. Membrane contact sites (MCSs) are structured by bridging complexes. They are specialized for communication, including the efficient traffic of small molecules such as Ca2+ ions and lipids, as well as enzyme-substrate interactions.
spindle microtubule	Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole.

1 GO annotations of molecular function

Name	Definition
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.

3 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q1JQC5	RMDN3	Regulator of microtubule dynamics protein 3	Bos taurus (Bovine)	PR
Q96DB5	RMDN1	Regulator of microtubule dynamics protein 1	Homo sapiens (Human)	PR
Q3UJU9	Rmdn3	Regulator of microtubule dynamics protein 3	Mus musculus (Mouse)	PR
Q66H15	Rmdn3	Regulator of microtubule dynamics protein 3	Rattus norvegicus (Rat)	PR
P34560	rmd-1	Regulator of microtubule dynamics protein 1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MSRLGALGGA	RAGLGLLLGT	AAGLGFLCLL	YSQRWKRTQR	HGRSQSLPNS	LDYTQTSDPG
70	80	90	100	110	120
RHVMLLRAVP	GGAGDASVLP	SLPREGQEKV	LDRLDFVLTS	LVALRREVEE	LRSSLRGLAG
130	140	150	160	170	180
EIVGEVRCHM	EENQRVARRR	RFPFVRERSD	STGSSSVYFT	ASSGATFTDA	ESEGGYTTAN
190	200	210	220	230	240
AESDNERDSD	KESEDGEDEV	SCETVKMGRK	DSLDLEEEAA	SGASSALEAG	GSSGLEDVLP
250	260	270	280	290	300
LLQQADELHR	GDEQGKREGF	QLLLNNKLVY	GSRQDFLWRL	ARAYSDMCEL	TEEVSEKKSY
310	320	330	340	350	360
ALDGKEEAEA	ALEKGDESAD	CHLWYAVLCG	QLAEHESIQR	RIQSGFSFKE	HVDKAIALQP
370	380	390	400	410	420
ENPMAHFLLG	RWCYQVSHLS	WLEKKTATAL	LESPLSATVE	DALQSFLKAE	ELQPGFSKAG
430	440	450	460
RVYISKCYRE	LGKNSEARWW	MKLALELPDV	TKEDLAIQKD	LEELEVILRD