AiPD: Autoinhibited Protein Database

Q14106

Gene name	TOB2 (KIAA1663, TOB4, TROB2)
Protein name	Protein Tob2
Names	Protein Tob4, Transducer of erbB-2 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10766
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

117-191 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

117-191 (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 Q14106

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14106-F1	Predicted				AlphaFoldDB

255 variants for Q14106

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs757727075 CA10257094	10	N>Y		No	ClinGen ExAC gnomAD
CA411720202 rs1472391685	13	I>T		No	ClinGen gnomAD
CA324580799 rs751426938	19	K>E		No	ClinGen Ensembl
rs1233428194 CA411719915	22	R>Q		No	ClinGen gnomAD
CA324580793 rs888756739	22	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411719889 rs1209375596	23	R>C		No	ClinGen gnomAD
TCGA novel	23	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324580773 rs1048725978	24	R>P		No	ClinGen TOPMed
TCGA novel	24	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754012671 CA10257093	24	R>W		No	ClinGen ExAC gnomAD
rs777701658 CA10257092	25	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10257091 rs143698818	26	D>H		No	ClinGen ESP ExAC gnomAD
CA411719816 rs143698818	26	D>N		No	ClinGen ESP ExAC gnomAD
CA411719736 rs1374544880	29	G>E		No	ClinGen gnomAD
rs371138962 CA411719742 CA10257088	29	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	30	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446484281 CA411719586	33	E>D		No	ClinGen gnomAD
CA324580751 rs908310153	33	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	33	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411719576 rs1337551471	34	R>Q		No	ClinGen gnomAD
CA10257087 rs751370690 COSM1682294	34	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10257086 rs766492313	35	L>F		No	ClinGen ExAC TOPMed gnomAD
rs762786312 CA10257085	40	Y>H		No	ClinGen ExAC gnomAD
rs186154231 CA324580716	42	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186154231 CA10257083	42	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773148955 CA10257084	42	G>S		No	ClinGen ExAC TOPMed gnomAD
rs761349289 CA411719364	44	W>L		No	ClinGen ExAC TOPMed gnomAD
rs761349289 CA10257082	44	W>S		No	ClinGen ExAC TOPMed gnomAD
CA10257081 rs776290363	45	Y>S		No	ClinGen ExAC
rs1453115210 CA411719345	46	P>T		No	ClinGen TOPMed
rs749772555 CA10257076	56	R>C		No	ClinGen ExAC gnomAD
rs778275328 CA10257075	60	I>L		No	ClinGen ExAC gnomAD
rs756177927 CA10257074	60	I>T		No	ClinGen ExAC TOPMed gnomAD
CA411719180 rs1393346238	61	G>R		No	ClinGen gnomAD
CA411719136 rs1601847595	64	V>A		No	ClinGen Ensembl
CA10257072 rs748239252	64	V>L		No	ClinGen ExAC gnomAD
CA10257069 rs372247600	67	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372247600 CA411719109	67	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10257068 rs572842094	69	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138874927 CA324580634	70	L>V		No	ClinGen ESP TOPMed gnomAD
rs199631098 CA324580602	72	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA411719057 rs1422490308	72	A>V		No	ClinGen TOPMed gnomAD
rs776085094 CA10257063	73	K>E		No	ClinGen ExAC gnomAD
CA411719047 rs1194203184	73	K>R		No	ClinGen gnomAD
CA10257061 rs146816915	74	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs568919168 CA10257062	74	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs775064529 CA10257060	78	A>V		No	ClinGen ExAC gnomAD
CA10257058 rs749623139	79	V>G		No	ClinGen ExAC TOPMed gnomAD
rs773613105 CA10257057	80	E>K		No	ClinGen ExAC gnomAD
COSM1734474 CA10257055 rs147747622	83	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs770305410 CA10257056	83	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1569269343 CA411718939	84	A>G		No	ClinGen Ensembl
CA411718944 rs1483176631	84	A>T		No	ClinGen TOPMed
CA411718917 rs1183972011	86	V>L		No	ClinGen TOPMed
CA324580527 rs758153147	92	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758153147 CA10257050	92	V>L		No	ClinGen ExAC TOPMed gnomAD
CA411718823 rs1406947916	94	I>T		No	ClinGen gnomAD
CA10257049 rs750213840	97	F>L		No	ClinGen ExAC gnomAD
CA411718761 rs1601847372	99	V>G		No	ClinGen Ensembl
rs1163916173 CA411718711	103	I>M		No	ClinGen gnomAD
CA411718714 rs1569269319	103	I>T		No	ClinGen Ensembl
CA411718677 rs1371264187	106	K>N		No	ClinGen gnomAD
rs1171979662 CA411718664	108	A>G		No	ClinGen gnomAD
rs1428576459 CA411718656	109	V>M		No	ClinGen gnomAD
CA324580509 rs750384833	111	V>M		No	ClinGen gnomAD
CA411718631 rs1490724722	112	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs140700349 CA10257048	114	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs757211318 CA10257047	115	D>H		No	ClinGen ExAC gnomAD
CA10257046 rs753400416	116	D>N		No	ClinGen ExAC gnomAD
CA10257045 rs763603442	119	G>R		No	ClinGen ExAC TOPMed gnomAD
CA411718544 rs763603442	119	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10257044 rs760111830	119	G>V		No	ClinGen ExAC gnomAD
rs150938078 CA10257042	121	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411718468 rs1225592714	124	E>K		No	ClinGen gnomAD
CA10257039 rs770262164	135	P>L		No	ClinGen ExAC TOPMed gnomAD
rs142553485 CA324580413	136	D>G		No	ClinGen ESP TOPMed gnomAD
rs747039186 CA10257035	137	A>P		No	ClinGen ExAC gnomAD
CA411718193 rs1386605316	138	Q>R		No	ClinGen gnomAD
rs1173560369 CA411718160	140	F>S		No	ClinGen gnomAD
CA411718148 rs772304243	141	V>L		No	ClinGen ExAC gnomAD
CA10257033 rs772304243	141	V>M		No	ClinGen ExAC gnomAD
CA411718120 rs148432877	143	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA411718114 rs1253046374	143	I>N		No	ClinGen TOPMed gnomAD
rs1253046374 CA411718117	143	I>T		No	ClinGen TOPMed gnomAD
CA10257031 COSM3694082 rs148432877	143	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1196905062 CA411718100	144	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	146	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324580379 rs776245257	147	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10257030 rs756939967	148	S>G		No	ClinGen ExAC
CA411718023 rs1430833262	148	S>N		No	ClinGen TOPMed
rs777647960 CA10257029	148	S>R		No	ClinGen ExAC gnomAD
rs1170662594 CA411717998	149	S>F		No	ClinGen TOPMed
CA411717916 rs1205643291	155	S>L		No	ClinGen TOPMed gnomAD
CA411717919 rs1205643291	155	S>W		No	ClinGen TOPMed gnomAD
rs1569269216 CA411717907	156	P>L		No	ClinGen Ensembl
rs1287944224 CA411717905	157	S>P		No	ClinGen gnomAD
rs752179809 CA10257026	160	Q>R		No	ClinGen ExAC gnomAD
CA10257024 rs759215650	161	S>A		No	ClinGen ExAC gnomAD
CA10257022 rs765640014	165	T>N		No	ClinGen ExAC gnomAD
CA411717755 rs1334185793	166	F>L		No	ClinGen gnomAD
CA10257021 rs762233029	167	I>V		No	ClinGen ExAC gnomAD
CA411717710 rs1158004375	168	P>A		No	ClinGen gnomAD
rs777304139 CA10257020	168	P>H		No	ClinGen ExAC gnomAD
CA10257019 rs77047252	169	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10257018 rs61756341	169	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1423809762 CA411717659	170	S>C		No	ClinGen TOPMed gnomAD
CA411717663 rs1423809762	170	S>F		No	ClinGen TOPMed gnomAD
rs772238597 CA10257016	171	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411717579 rs1461804257	173	P>R		No	ClinGen gnomAD
CA411717590 rs1569269167	173	P>S		No	ClinGen Ensembl
CA411717540 rs1601847091	175	T>P		No	ClinGen Ensembl
rs1601847087 CA411717495	177	T>P		No	ClinGen Ensembl
rs1035634089 CA324580257	178	T>I		No	ClinGen Ensembl
CA10257012 rs369500667	179	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369500667 COSM1034621 CA10257011	179	A>T	Variant assessed as Somatic; 4.63e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA411717444 rs1219089124	180	S>C		No	ClinGen gnomAD
rs756043215 CA10257010	181	F>C		No	ClinGen ExAC gnomAD
TCGA novel	182	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285389841 CA411717343	187	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1247973753 CA411717301	190	K>T		No	ClinGen TOPMed
CA10257003 rs540505116	194	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA10257004 rs1020997703 CA324580199	194	G>R		No	ClinGen TOPMed
CA10257005 rs1020997703	194	G>W		No	ClinGen TOPMed
CA411717203 rs1398596720	195	G>D		No	ClinGen TOPMed gnomAD
rs754226472 CA10257000	196	G>E		No	ClinGen ExAC gnomAD
rs757748045 CA10257001	196	G>R		No	ClinGen ExAC TOPMed gnomAD
rs764761202 CA10256999	198	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10256998 rs761248021	199	S>G		No	ClinGen ExAC gnomAD
rs146030542 CA10256996	200	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA324580141 rs1043557444	200	G>D		No	ClinGen TOPMed
rs146030542 CA411717106	200	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs146030542 CA10256997	200	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411717067 rs1232928459	202	G>C		No	ClinGen gnomAD
rs759494082 CA10256995	203	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1191033468 CA411717045	204	A>T		No	ClinGen TOPMed gnomAD
CA324580127 rs893944221	205	S>G		No	ClinGen Ensembl
rs1327404732 CA411716973	206	S>R		No	ClinGen gnomAD
rs1449026603 CA411716967	207	G>R		No	ClinGen gnomAD
rs573152910 CA10256994	208	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	209	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772979961 CA10256991	211	Q>R		No	ClinGen ExAC gnomAD
CA10256990 rs769523076	213	P>A		No	ClinGen ExAC gnomAD
CA10256989 rs748121069	215	Q>R		No	ClinGen ExAC gnomAD
CA411716799 rs1269144418	217	P>T		No	ClinGen TOPMed gnomAD
CA10256987 rs139245662	218	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10256986 rs370773970	218	R>H		No	ClinGen ESP ExAC gnomAD
CA10256985 rs370773970	218	R>L		No	ClinGen ESP ExAC gnomAD
rs900080319 CA324580062	219	M>V		No	ClinGen TOPMed gnomAD
CA411716754 rs1165798429	220	A>T		No	ClinGen gnomAD
CA324580055 rs1041314129	221	R>H		No	ClinGen gnomAD
rs1419422141 CA411716716	222	S>L		No	ClinGen TOPMed gnomAD
rs756167550 CA324580052	223	P>S		No	ClinGen TOPMed
CA411716687 rs1399927022	224	T>I		No	ClinGen TOPMed gnomAD
CA10256983 rs758122357	225	N>K		No	ClinGen ExAC TOPMed gnomAD
CA411716673 rs1166276139	225	N>S		No	ClinGen gnomAD
CA411716657 rs1412866408	226	S>C		No	ClinGen TOPMed
CA10256982 rs754308260	226	S>N		No	ClinGen ExAC TOPMed gnomAD
CA10256981 rs764562806	226	S>R		No	ClinGen ExAC gnomAD
CA411716636 rs1489904446	227	L>V		No	ClinGen gnomAD
CA10256979 rs370827951	230	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs767860568 CA10256978	231	K>R		No	ClinGen ExAC gnomAD
rs759708339 CA411716521	232	S>R		No	ClinGen ExAC gnomAD
CA411716490 rs1295117136	235	L>V		No	ClinGen TOPMed
rs1270222155 CA411716456	237	M>I		No	ClinGen gnomAD
CA10256976 rs200955505	237	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10256975 rs766646402	238	H>Y		No	ClinGen ExAC gnomAD
rs1569269004 CA411716422	239	S>L		No	ClinGen Ensembl
rs1343185715 CA411716360	243	I>F		No	ClinGen gnomAD
rs1305414016 CA411716352	243	I>S		No	ClinGen TOPMed gnomAD
CA10256974 rs763176411	244	T>M		No	ClinGen ExAC gnomAD
CA411716284 rs1412082080	247	P>A		No	ClinGen gnomAD
CA10256972 rs751728213	247	P>L		No	ClinGen ExAC gnomAD
CA411716238 rs1431697003	249	P>L		No	ClinGen TOPMed gnomAD
CA411716240 rs1431697003	249	P>R		No	ClinGen TOPMed gnomAD
CA411716159 rs1480624148	253	L>F		No	ClinGen gnomAD
rs1232053444 CA411716121	255	P>T		No	ClinGen gnomAD
rs768451131 CA411716096	256	N>I		No	ClinGen ExAC gnomAD
CA10256969 rs768451131	256	N>S		No	ClinGen ExAC gnomAD
CA411716071 rs1321448662	257	A>V		No	ClinGen TOPMed
rs1439432003 CA411716058	258	K>E		No	ClinGen gnomAD
rs1202482530 CA411715995	260	F>V		No	ClinGen TOPMed gnomAD
CA10256966 rs757919819	261	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10256965 rs201844088	263	N>S		No	ClinGen 1000Genomes ExAC
CA10256962 rs781742402	264	G>D		No	ClinGen ExAC gnomAD
CA10256963 rs578099741	264	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10256961 rs781742402	264	G>V		No	ClinGen ExAC gnomAD
rs1210860132 CA411715898	265	G>D		No	ClinGen gnomAD
rs1444995543 CA411715883	266	G>D		No	ClinGen gnomAD
rs1468276763 CA411715821 CA411715823	269	S>R		No	ClinGen TOPMed gnomAD
rs1408630136 CA411715817	270	L>I		No	ClinGen gnomAD
CA324579878 rs374752853	270	L>P		No	ClinGen ESP TOPMed gnomAD
CA10256958 rs766451508	272	F>S		No	ClinGen ExAC TOPMed gnomAD
CA10256957 rs371510039	274	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765425961 CA10256955	275	A>T		No	ClinGen ExAC gnomAD
CA10256953 rs373110056	276	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217240093 CA411715615	277	G>V		No	ClinGen gnomAD
CA324579832 rs1034638880	278	Q>P		No	ClinGen TOPMed
rs61736466 CA10256951	279	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	280	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567607158 CA10256950	281	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411715524 rs1314923977	281	G>V		No	ClinGen gnomAD
rs1283144585 CA411715505	282	T>S		No	ClinGen TOPMed
rs537403504 CA10256947	283	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA10256948 rs549311989	283	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA411715481 rs1601846530	284	G>D		No	ClinGen Ensembl
CA411715471 rs1601846530	284	G>V		No	ClinGen Ensembl
CA10256946 rs770458013	285	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1453328286 CA411715462	285	P>S		No	ClinGen gnomAD
CA411715446 rs1569268854	286	F>C		No	ClinGen Ensembl
TCGA novel	286	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324579754 rs779595227	286	F>L		No	ClinGen Ensembl
rs377588134 CA10256945	287	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10256944 rs781425124	288	G>S		No	ClinGen ExAC gnomAD
rs143983074 CA10256943	289	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411715405 rs200751745	289	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10256942 rs200751745	289	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10256941 rs780491300	290	G>E		No	ClinGen ExAC gnomAD
CA411715390 rs1181934264	291	A>T		No	ClinGen gnomAD
CA10256940 rs758525047	292	G>S		No	ClinGen ExAC gnomAD
rs1275644332 CA411715370	293	T>S		No	ClinGen TOPMed
rs750473970 CA10256939	295	N>K		No	ClinGen ExAC gnomAD
CA10256938 rs765566031	296	S>N		No	ClinGen ExAC gnomAD
rs1803385 CA324579707	297	S>I		No	ClinGen Ensembl
CA411715191 rs1354909846	301	M>V		No	ClinGen gnomAD
rs761931997 CA10256937	302	A>S		No	ClinGen ExAC gnomAD
rs1601846418 CA411715111	304	V>G		No	ClinGen Ensembl
rs559913996 CA324579684	305	F>V		No	ClinGen 1000Genomes
rs563028453 CA324579683	306	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA411715064 rs1569268816	307	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1244440145 CA411715036	308	G>D		No	ClinGen gnomAD
CA324579682 rs958342405	308	G>R		No	ClinGen Ensembl
CA10256936 rs138507314	309	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10256935 rs763796497	310	N>S		No	ClinGen ExAC TOPMed gnomAD
CA324579666 rs944077954	312	L>F		No	ClinGen TOPMed
rs1290824318 CA411714906	313	F>L		No	ClinGen gnomAD
CA10256933 rs775587680	315	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10256931 rs759155005	318	P>A		No	ClinGen ExAC gnomAD
CA411714795 rs773993073	318	P>H		No	ClinGen ExAC TOPMed gnomAD
rs773993073 CA10256930	318	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10256929 rs770673524	325	Y>C		No	ClinGen ExAC gnomAD
rs1371999415 CA411714630	326	N>K		No	ClinGen TOPMed
rs1412445389 CA411714569	329	T>A		No	ClinGen TOPMed
rs748898689 CA10256928	329	T>I		No	ClinGen ExAC gnomAD
TCGA novel	330	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411714524 rs1187926986	331	Q>R		No	ClinGen gnomAD
rs1601846296 CA411714503	332	Y>F		No	ClinGen Ensembl
rs900049109 CA324579646	333	P>S		No	ClinGen Ensembl
CA411714482 rs1268632877	334	S>G		No	ClinGen gnomAD
rs201576232 CA10256927	334	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201576232 CA324579638	334	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10256926 rs768927116	335	Q>L		No	ClinGen ExAC gnomAD
rs747354276 CA10256925	336	Q>R		No	ClinGen ExAC gnomAD
rs528335749 CA10256923 COSM350325	340	V>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1345110707 CA411714317	343	A>V		No	ClinGen gnomAD
CA10256922 rs200620356	344	N>S		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q14106

3 regional properties for Q14106

Type	Name	Position	InterPro Accession
domain	Anti-proliferative protein	1 - 118	IPR002087
domain	Ataxin-2, C-terminal	129 - 144	IPR009818-1
domain	Ataxin-2, C-terminal	249 - 264	IPR009818-2

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

2 GO annotations of molecular function

Name	Definition
nuclear vitamin D receptor binding	Binding to a nuclear vitamin D receptor, a nuclear receptor that mediates the action of vitamin D by binding DNA and controlling the transcription of hormone-sensitive genes.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

6 GO annotations of biological process

Name	Definition
female gamete generation	Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of osteoclast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation.
osteoclast differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
positive regulation of ossification	Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MQLEIKVALN	FIISYLYNKL	PRRRADLFGE	ELERLLKKKY	EGHWYPEKPL	KGSGFRCVHI
70	80	90	100	110	120
GEMVDPVVEL	AAKRSGLAVE	DVRANVPEEL	SVWIDPFEVS	YQIGEKGAVK	VLYLDDSEGC
130	140	150	160	170	180
GAPELDKEIK	SSFNPDAQVF	VPIGSQDSSL	SNSPSPSFGQ	SPSPTFIPRS	AQPITFTTAS
190	200	210	220	230	240
FAATKFGSTK	MKKGGGAASG	GGVASSGAGG	QQPPQQPRMA	RSPTNSLLKH	KSLSLSMHSL
250	260	270	280	290	300
NFITANPAPQ	SQLSPNAKEF	VYNGGGSPSL	FFDAADGQGS	GTPGPFGGSG	AGTCNSSSFD
310	320	330	340
MAQVFGGGAN	SLFLEKTPFV	EGLSYNLNTM	QYPSQQFQPV	VLAN