AiPD: Autoinhibited Protein Database

Q9H0V9

Gene name	LMAN2L (VIPL, PSEC0028, UNQ368/PRO704)
Protein name	VIP36-like protein
Names	Lectin mannose-binding 2-like, LMAN2-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81562
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

238-342 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

238-342 (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

1 structures for Q9H0V9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H0V9-F1	Predicted				AlphaFoldDB

310 variants for Q9H0V9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000210447 CA358746 rs869320632 VAR_076429	53	R>Q	Intellectual disability, autosomal recessive 52 MRT52; no effect on general protein glycosylation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001331706 CA1782921 rs753445500	218	V>I	Intellectual disability, autosomal recessive 52 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA1782889 RCV002291516 rs773649192	247	R>H	Intellectual disability, autosomal recessive 52 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001333824 rs2077918865	259	D>V	Intellectual disability, autosomal recessive 52 [ClinVar]	Yes	ClinVar dbSNP
CA347707327 rs773987460	2	A>G		No	ClinGen ExAC TOPMed gnomAD
rs966556807 CA52454298	2	A>T		No	ClinGen TOPMed gnomAD
rs773987460 CA1783132	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs768460693 CA347707316	3	A>G		No	ClinGen ExAC gnomAD
CA347707320 rs1411618880	3	A>S		No	ClinGen gnomAD
rs1411618880 CA347707324	3	A>T		No	ClinGen gnomAD
CA1783131 rs768460693	3	A>V		No	ClinGen ExAC gnomAD
rs775800036 CA1783129	4	T>A		No	ClinGen ExAC TOPMed gnomAD
rs769998573 CA1783128	4	T>I		No	ClinGen ExAC gnomAD
CA52454293 rs775800036	4	T>P		No	ClinGen ExAC TOPMed gnomAD
rs775800036 CA1783130	4	T>S		No	ClinGen ExAC TOPMed gnomAD
CA347707300 rs1370476712	5	L>V		No	ClinGen gnomAD
CA1783127 rs745940255	6	G>R		No	ClinGen ExAC gnomAD
rs778029577 CA1783123	7	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1783122 rs148878788	7	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778029577 CA1783124	7	P>S		No	ClinGen ExAC TOPMed gnomAD
rs765945919 CA1783120	8	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1783117 rs762511900	8	L>H		No	ClinGen ExAC
rs765945919 CA347707262	8	L>I		No	ClinGen ExAC TOPMed gnomAD
CA347707254 rs762511900	8	L>P		No	ClinGen ExAC
CA1783119 rs762511900	8	L>R		No	ClinGen ExAC
rs1345928496 CA347707247	9	G>R		No	ClinGen gnomAD
rs367588914 CA1783114	10	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1783115 rs199520249	10	S>P		No	ClinGen ExAC TOPMed gnomAD
rs367588914 CA347707232	10	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA347707212 rs1333659547	11	W>L		No	ClinGen gnomAD
rs1052725621 CA52454147	13	Q>H		No	ClinGen TOPMed gnomAD
rs771943070 CA52454158	13	Q>L		No	ClinGen TOPMed gnomAD
rs771943070 CA347707176	13	Q>R		No	ClinGen TOPMed gnomAD
CA347707169 rs1298872312	14	W>R		No	ClinGen gnomAD
CA1783112 rs762770180	14	W>S		No	ClinGen ExAC gnomAD
rs143528977 CA1783111	15	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA347707136 rs1392930213	16	R>Q		No	ClinGen gnomAD
CA1783110 rs376253936	17	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA347707065 rs1161827420	21	R>W		No	ClinGen gnomAD
rs201711079 CA52454098	22	D>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs201711079 CA52454100	22	D>V		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	23	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776540551 CA1783108	24	S>A		No	ClinGen ExAC gnomAD
CA52454097 rs901412262	26	M>I		No	ClinGen Ensembl
rs1268885743 CA347706963	28	L>F		No	ClinGen gnomAD
rs1268885743 CA347706959	28	L>V		No	ClinGen gnomAD
CA347706947 rs1205336380	29	L>F		No	ClinGen TOPMed
CA1783106 rs747490165	30	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1278926186 CA347706849	36	G>R		No	ClinGen gnomAD
CA1783103 rs368659402	36	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs879636220 CA52454026	37	Q>*		No	ClinGen gnomAD
rs1041727647 CA52454012	37	Q>L		No	ClinGen gnomAD
rs1041727647 CA347706826	37	Q>R		No	ClinGen gnomAD
rs748503794 CA1783102	38	G>R		No	ClinGen ExAC gnomAD
CA347706799 rs1392637449	39	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347706787 rs1322789426	40	Q>*		No	ClinGen gnomAD
TCGA novel	41	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458143448 CA347706763	41	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	42	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347706730 rs1180609520	44	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA347706667 rs1386779146	47	T>M		No	ClinGen TOPMed
rs1574036360 CA347706643	49	E>Q		No	ClinGen Ensembl
CA347706573 rs1574036315	54	E>G		No	ClinGen Ensembl
CA52453882 rs146798342	54	E>K		No	ClinGen ESP ExAC gnomAD
CA1783094 rs146798342	54	E>Q		No	ClinGen ESP ExAC gnomAD
CA1783092 rs201678946	55	H>Q		No	ClinGen ExAC gnomAD
CA1783093 rs775401839	55	H>Y		No	ClinGen ExAC gnomAD
rs376575004 CA1783091	56	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199768506 CA52453879	59	K>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA1783090 rs776863054	60	P>H		No	ClinGen ExAC gnomAD
CA347706481 rs1336700137	61	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760739067 CA1783088	62	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs139749550 CA1783087	62	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA347705699 rs1431584348	64	V>M		No	ClinGen TOPMed
rs1168917415 CA347705660	66	T>A		No	ClinGen TOPMed
CA52452645 rs1033083504	68	S>G		No	ClinGen Ensembl
rs1369730427 CA347705612	68	S>R		No	ClinGen TOPMed
CA347705580 rs1408410619	70	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs772102928 CA1783069	72	W>*		No	ClinGen ExAC gnomAD
rs957440662 CA52452631	73	N>Y		No	ClinGen TOPMed
rs1473679867 CA347705504	74	L>V		No	ClinGen gnomAD
rs1418349043 CA347705481	75	M>T		No	ClinGen gnomAD
TCGA novel	77	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868073557 CA52452601	77	N>S		No	ClinGen TOPMed
rs540024012 CA1783067	78	A>T		No	ClinGen 1000Genomes ExAC
CA347705383 rs1253808539	79	M>I		No	ClinGen TOPMed gnomAD
CA52452597 rs900537487	79	M>V		No	ClinGen TOPMed
rs768907102 CA1783066	81	M>R		No	ClinGen ExAC TOPMed gnomAD
rs1271210089 CA347705297	83	Q>H		No	ClinGen gnomAD
rs577479262 CA347705236	86	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1783065 rs577479262	86	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1783064 rs780768102	86	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780768102 CA347705220	86	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746539846 CA1783062	90	D>H		No	ClinGen ExAC gnomAD
CA1783061 rs777455138	91	M>R		No	ClinGen ExAC gnomAD
CA347705096 rs777455138	91	M>T		No	ClinGen ExAC gnomAD
CA347705041 rs1442362499	93	S>R		No	ClinGen gnomAD
CA1783060 rs757932178	97	A>P		No	ClinGen ExAC gnomAD
rs754792012 CA1783057	99	W>*		No	ClinGen ExAC gnomAD
rs766556535 CA347704978	101	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766556535 CA1783055	101	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753651089 CA1783056	101	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1783054 rs760991471	102	V>A		No	ClinGen ExAC gnomAD
CA347704975 rs1410152019	102	V>L		No	ClinGen TOPMed gnomAD
CA1783036 rs772436081	108	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779923563 CA1783035	109	W>L		No	ClinGen ExAC gnomAD
CA347704432 rs1171794262	113	V>G		No	ClinGen gnomAD
TCGA novel	114	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347704386 rs1262611817	116	K>E		No	ClinGen gnomAD
rs750651501 CA1783033	116	K>I		No	ClinGen ExAC gnomAD
CA52450125 rs746426630	121	G>*		No	ClinGen TOPMed gnomAD
rs746426630 CA52450140	121	G>R		No	ClinGen TOPMed gnomAD
rs1212188150 CA347704251	124	N>D		No	ClinGen gnomAD
CA347704245 rs1347744249	124	N>S		No	ClinGen gnomAD
CA347704215 rs1279006073	126	H>P		No	ClinGen gnomAD
CA1783031 rs757385448	126	H>Q		No	ClinGen ExAC gnomAD
CA347704212 rs1279006073	126	H>R		No	ClinGen gnomAD
CA1783030 rs751618982	127	G>A		No	ClinGen ExAC
rs779311587 CA52450116	128	D>V		No	ClinGen TOPMed
CA1783029 rs764549691	131	A>S		No	ClinGen ExAC gnomAD
rs764549691 CA347704143	131	A>T		No	ClinGen ExAC gnomAD
rs1381488419 CA347704100	133	W>*		No	ClinGen TOPMed gnomAD
rs1381488419 CA347704097	133	W>C		No	ClinGen TOPMed gnomAD
rs763545572 CA1783028	134	Y>*		No	ClinGen ExAC gnomAD
rs1359566006 CA347704087	134	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1783027 rs775809999	135	T>A		No	ClinGen ExAC TOPMed gnomAD
rs765648124 CA1783026	136	K>T		No	ClinGen ExAC gnomAD
rs773062408 CA1783024	138	R>Q		No	ClinGen ExAC gnomAD
rs759912713 CA1783025	138	R>W		No	ClinGen ExAC TOPMed gnomAD
CA347704018 rs1308335542	139	M>I		No	ClinGen TOPMed
CA347703999 rs1373913543	141	P>Q		No	ClinGen gnomAD
rs771832951 CA1783023	142	G>R		No	ClinGen ExAC TOPMed gnomAD
CA347703991 rs771832951	142	G>W		No	ClinGen ExAC TOPMed gnomAD
rs754230318 CA1783003	146	G>R		No	ClinGen ExAC gnomAD
rs767315117 CA1783002	147	N>K		No	ClinGen ExAC gnomAD
rs761583140 CA1783001	148	M>V		No	ClinGen ExAC TOPMed gnomAD
CA347703714 rs1214158475 CA347703713	152	V>L		No	ClinGen TOPMed gnomAD
CA1783000 rs773819723	153	G>A		No	ClinGen ExAC gnomAD
rs1248611700 CA347703647	157	F>L		No	ClinGen TOPMed
rs768221465 CA1782999	161	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1190676494 CA347703556	162	P>H		No	ClinGen TOPMed
rs1049812988 CA52449073	163	N>S		No	ClinGen gnomAD
rs1373535990 CA347703527	164	E>Q		No	ClinGen gnomAD
rs1427333672 CA347703510	165	E>K		No	ClinGen TOPMed
rs1326796456 CA347703468	168	Q>*		No	ClinGen gnomAD
CA1782997 rs775556162	169	E>Q		No	ClinGen ExAC gnomAD
CA1782956 rs199783256	170	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1782955 rs199783256	170	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201676969 CA1782957	170	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs760562425 CA52485860	171	V>A		No	ClinGen ExAC TOPMed gnomAD
rs760562425 CA1782953	171	V>E		No	ClinGen ExAC TOPMed gnomAD
rs760562425 CA347711820	171	V>G		No	ClinGen ExAC TOPMed gnomAD
rs766290032 CA1782954	171	V>I		No	ClinGen ExAC gnomAD
rs772848566 CA1782952	172	F>L		No	ClinGen ExAC gnomAD
CA52485823 rs142903201	172	F>S		No	ClinGen ESP TOPMed
CA52485819 rs147533675	173	P>R		No	ClinGen ESP
rs771856938 CA1782951	174	Y>C		No	ClinGen ExAC gnomAD
CA1782950 rs774650976	175	I>L		No	ClinGen ExAC gnomAD
rs774650976 CA1782949	175	I>V		No	ClinGen ExAC gnomAD
TCGA novel	176	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347711739 rs1437472626	178	M>V		No	ClinGen gnomAD
rs1199832303 CA347711719	179	V>L		No	ClinGen TOPMed
CA347711694 rs1215991751	180	N>K		No	ClinGen TOPMed gnomAD
rs768927598 CA1782948	180	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1782947 rs749370052	181	N>D		No	ClinGen ExAC gnomAD
rs142251037 CA1782946	182	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA347711664 rs1227125764	183	S>F		No	ClinGen gnomAD
rs1253983154 CA347711668	183	S>P		No	ClinGen TOPMed
rs1376093023 CA347711645	184	L>P		No	ClinGen gnomAD
CA347711640 rs1280789386	185	S>N		No	ClinGen gnomAD
CA1782945 rs377645788	186	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1782943 rs781433638	187	D>H		No	ClinGen ExAC gnomAD
rs1422460766 CA347711549	188	H>L		No	ClinGen TOPMed
rs1422460766 CA347711550	188	H>R		No	ClinGen TOPMed
rs770863578 CA52485714	188	H>Y		No	ClinGen gnomAD
CA1782941 rs150323580	190	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1782942 rs149461143	190	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403550934 CA347711501	191	D>G		No	ClinGen gnomAD
rs1399530733 CA347711504	191	D>Y		No	ClinGen TOPMed
rs1409990921 CA347711484	192	G>R		No	ClinGen gnomAD
CA1782939 rs376718855	193	R>Q		No	ClinGen ESP ExAC gnomAD
rs764864669 CA1782940	193	R>W		No	ClinGen ExAC gnomAD
CA347711428 rs1236620247	195	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1782938 rs753320593	198	G>E		No	ClinGen ExAC gnomAD
rs1573998485 CA347711370	200	C>G		No	ClinGen Ensembl
rs766377155 CA1782937	201	T>I		No	ClinGen ExAC gnomAD
rs1573998465 CA347711355	201	T>P		No	ClinGen Ensembl
rs760557355 CA1782936	203	I>V		No	ClinGen ExAC gnomAD
rs200286673 CA52485616	204	V>I		No	ClinGen 1000Genomes
CA1782934 rs201857731	205	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761666242 COSM1023969 CA52485606	205	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761666242 CA1782933	205	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1782932 rs201001633	206	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347711234 rs896268997	207	L>F		No	ClinGen gnomAD
CA52485604 rs896268997	207	L>I		No	ClinGen gnomAD
rs140338166 CA1782931	209	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs775744816 CA1782929	210	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1292738069 CA347711160	210	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775744816 CA347711141	210	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1159699700 CA347711111	212	F>L		No	ClinGen gnomAD
rs757628014 CA1782925	214	V>A		No	ClinGen ExAC
rs781673762 CA1782926	214	V>L		No	ClinGen ExAC gnomAD
rs747360404 CA1782924	216	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs369034621 CA1782923	216	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA52485539 rs748790337	217	Y>H		No	ClinGen Ensembl
CA347710975 rs1422237562	218	V>A		No	ClinGen TOPMed
rs779449487 CA1782920	220	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1487040590 CA347710913	221	H>Y		No	ClinGen TOPMed gnomAD
rs750396597 CA1782918	222	L>M		No	ClinGen ExAC gnomAD
rs751372909	223	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA52485505 rs375965191	223	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1782916 COSM1023968 rs375965191	223	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs556186949 CA52485391	228	I>T		No	ClinGen TOPMed gnomAD
CA1782900 rs781035924	229	D>N		No	ClinGen ExAC gnomAD
TCGA novel	229	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757292172 CA1782899	230	G>D		No	ClinGen ExAC gnomAD
rs751493713 CA1782898	231	K>Q		No	ClinGen ExAC gnomAD
rs1355268906 CA347710665	231	K>R		No	ClinGen gnomAD
rs763996452 CA1782897	232	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs752926976 CA1782895	237	C>R		No	ClinGen ExAC gnomAD
CA1782894 rs368460835	238	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA347710519 rs1254883221	241	P>T		No	ClinGen gnomAD
rs1258286714 CA347710493	242	G>E		No	ClinGen gnomAD
rs141144992 CA1782892	242	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs77272309 CA52485318	243	V>A		No	ClinGen Ensembl
rs1197830425 CA347710492	243	V>I		No	ClinGen gnomAD
CA1782891 rs770958393	244	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374254632 CA1782890	244	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347710477 rs374254632	244	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347710474 rs1034134125	245	L>M		No	ClinGen TOPMed gnomAD
rs1228302424 CA347710463	246	P>L		No	ClinGen gnomAD
CA347710458 rs1310668607	247	R>C		No	ClinGen gnomAD
rs748501432 CA1782887	248	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1782886 rs200567322	249	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347710384 rs1397165453	251	F>L		No	ClinGen TOPMed gnomAD
CA347710396 rs1354796421	251	F>V		No	ClinGen TOPMed
rs769458080 CA1782885	252	G>S		No	ClinGen ExAC gnomAD
CA1782884 rs371796431	253	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	254	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281785171 CA347710295	255	S>F		No	ClinGen gnomAD
rs368039092 CA1782881	256	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347710272 rs1238449801	257	T>I		No	ClinGen gnomAD
TCGA novel	257	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1782880 rs777851708	259	D>N		No	ClinGen ExAC gnomAD
CA52485236 rs1040109527	260	L>F		No	ClinGen TOPMed
CA52480976 rs1055076699	262	D>G		No	ClinGen gnomAD
CA52480975 rs772116126	263	N>K		No	ClinGen Ensembl
rs747991278 CA1782859	264	H>L		No	ClinGen ExAC gnomAD
rs747991278 CA347709800	264	H>R		No	ClinGen ExAC gnomAD
rs374154364 CA1782857	265	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs377695164 CA1782858	265	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs766580923 CA1782855	267	I>V		No	ClinGen ExAC gnomAD
CA1782854 rs756237520	268	S>P		No	ClinGen ExAC gnomAD
rs750472099 CA1782853	270	K>R		No	ClinGen ExAC gnomAD
CA347709730 CA347709731 rs1360376763	271	L>F		No	ClinGen gnomAD
rs769494479 CA52480945	272	F>S		No	ClinGen TOPMed
TCGA novel	275	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA52480934 rs997931445	276	V>A		No	ClinGen TOPMed gnomAD
rs1172772267 CA347709677	277	E>G		No	ClinGen gnomAD
rs981334279 CA52480928	278	R>S		No	ClinGen TOPMed gnomAD
rs764526796 CA1782849	280	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1782848 rs763226015	282	E>*		No	ClinGen ExAC gnomAD
CA347709587 rs1264135190	286	H>R		No	ClinGen gnomAD
CA1782846 rs746554700	287	R>*	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347709579 rs1214603429	287	R>Q		No	ClinGen TOPMed gnomAD
CA52480878 rs899595811	288	D>G		No	ClinGen TOPMed
rs772876006 CA1782844	288	D>N		No	ClinGen ExAC gnomAD
rs1200114861 CA347709565	289	V>M		No	ClinGen gnomAD
CA52480873 rs913059659	290	F>L		No	ClinGen Ensembl
CA1782842 rs769889604	290	F>L		No	ClinGen ExAC gnomAD
rs778647170 CA1782841	294	V>E		No	ClinGen ExAC gnomAD
rs1340511574 CA347709518	294	V>M		No	ClinGen gnomAD
CA347709501 rs1397640787	295	D>E		No	ClinGen TOPMed gnomAD
CA52480833 rs778914632	296	N>S		No	ClinGen gnomAD
CA347709484 rs1334195933	297	M>T		No	ClinGen gnomAD
rs988574840 CA52480816	298	K>R		No	ClinGen Ensembl
CA347709446 rs1169504179	301	E>G		No	ClinGen gnomAD
CA1782821 rs749185359	303	T>I		No	ClinGen ExAC gnomAD
CA347709390 rs1558944905	304	A>T		No	ClinGen Ensembl
rs1471832568 CA347709370	306	L>M		No	ClinGen gnomAD
rs893503821 CA52480509	307	P>L		No	ClinGen TOPMed gnomAD
rs1179519007 CA347709360	307	P>S		No	ClinGen gnomAD
rs781269629 CA347709342	309	L>Q		No	ClinGen ExAC gnomAD
rs781269629 CA1782817	309	L>R		No	ClinGen ExAC gnomAD
rs1289758319 CA347709299 COSM1410092	313	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs751571413 CA1782814	314	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1782813 rs778381927	315	F>S		No	ClinGen ExAC gnomAD
rs758856751 CA52480445	317	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	317	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1782812 rs758856751	317	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM1023965 rs753202545 CA1782811	318	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1782809 rs759912874	323	V>M		No	ClinGen ExAC gnomAD
rs143220263 CA52480415	324	F>C		No	ClinGen ESP TOPMed
CA347709151 rs1403486174	325	S>P		No	ClinGen gnomAD
rs145223069 CA1782807	326	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761428719 CA347709116	329	I>K		No	ClinGen ExAC gnomAD
rs761428719 CA1782805	329	I>T		No	ClinGen ExAC gnomAD
rs767060857 CA1782806	329	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1782804 rs747402471	331	I>V		No	ClinGen ExAC gnomAD
rs768164274 CA1782803	335	L>F		No	ClinGen ExAC gnomAD
rs1273162014 CA347709037	337	N>K		No	ClinGen TOPMed
rs1449172958 CA347708985	340	Q>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762891797 CA1782801	342	Q>E		No	ClinGen ExAC gnomAD
CA1782800 rs775343118	343	S>N		No	ClinGen ExAC TOPMed gnomAD
rs368242766 CA1782799	344	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1782798 rs200471379	344	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1782797 rs201025190	346	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1782796 rs374083188	346	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1782795 rs747211764	348	Y>D		No	ClinGen ExAC gnomAD
CA347708870 rs1298939202	349	Y>R		No	ClinGen gnomAD

1 associated diseases with Q9H0V9

[MIM: 616887]: Intellectual developmental disorder, autosomal recessive 52 (MRT52)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. {ECO:0000269|PubMed:26566883}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. {ECO:0000269|PubMed:26566883}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q9H0V9

Type	Name	Position	InterPro Accession
domain	Legume-like lectin	49 - 275	IPR005052

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane; Single-pass type I membrane protein Golgi apparatus membrane; Single-pass type I membrane protein	Predominantly found in the endoplasmic reticulum Partly found in the Golgi
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
COPII-coated ER to Golgi transport vesicle	A vesicle with a coat formed of the COPII coat complex proteins. The COPII coat complex is formed by the Sec23p/Sec24p and the Sec13p/Sec31p heterodimers. COPII-associated vesicles transport proteins from the rough endoplasmic reticulum to the Golgi apparatus (anterograde transport).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endoplasmic reticulum-Golgi intermediate compartment	A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.

2 GO annotations of molecular function

Name	Definition
mannose binding	Binding to mannose, a monosaccharide hexose, stereoisomeric with glucose, that occurs naturally only in polymerized forms called mannans.
metal ion binding	Binding to a metal ion.

5 GO annotations of biological process

Name	Definition
endoplasmic reticulum organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum.
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2HJD1	LMAN2L	VIP36-like protein	Bos taurus (Bovine)	PR
P59481	Lman2l	VIP36-like protein	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAATLGPLGS	WQQWRRCLSA	RDGSRMLLLL	LLLGSGQGPQ	QVGAGQTFEY	LKREHSLSKP
70	80	90	100	110	120
YQGVGTGSSS	LWNLMGNAMV	MTQYIRLTPD	MQSKQGALWN	RVPCFLRDWE	LQVHFKIHGQ
130	140	150	160	170	180
GKKNLHGDGL	AIWYTKDRMQ	PGPVFGNMDK	FVGLGVFVDT	YPNEEKQQER	VFPYISAMVN
190	200	210	220	230	240
NGSLSYDHER	DGRPTELGGC	TAIVRNLHYD	TFLVIRYVKR	HLTIMMDIDG	KHEWRDCIEV
250	260	270	280	290	300
PGVRLPRGYY	FGTSSITGDL	SDNHDVISLK	LFELTVERTP	EEEKLHRDVF	LPSVDNMKLP
310	320	330	340
EMTAPLPPLS	GLALFLIVFF	SLVFSVFAIV	IGIILYNKWQ	EQSRKRFY