AiPD: Autoinhibited Protein Database

Q13432

Gene name	UNC119 (RG4)
Protein name	Protein unc-119 homolog A
Names	Retinal protein 4, hRG4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9094
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-83 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-83 (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

8 structures for Q13432

Entry ID	Method	Resolution	Chain	Position	Source
3GQQ	X-ray	195 A	A/B/C/D/E/F	56-240	PDB
3RBQ	X-ray	200 A	A/B/C/D/E/F	56-240	PDB
4GOJ	X-ray	210 A	C/D	1-240	PDB
4GOK	X-ray	260 A	C/G	1-240	PDB
5L7K	X-ray	210 A	A/G	58-237	PDB
6H6A	X-ray	200 A	D/G/J	59-240	PDB
7UMO	X-ray	230 A	A/B/C/D/E/F	57-240	PDB
AF-Q13432-F1	Predicted				AlphaFoldDB

225 variants for Q13432

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001303184 RCV000375940 rs756038571 CA8459912	16	S>F	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs199714731 RCV001512299 RCV000250269 CA145322 VAR_071184 RCV000316267 RCV000074396	22	G>V	Idiopathic CD4 lymphocytopenia Cone-rod dystrophy IMD13; impairs interaction with LCK; impairs LCK activation; induces LCK mislocalization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000006240 CA117828 RCV001241145 RCV003223390 rs267607166	57	K>*	Cone-rod dystrophy 24 Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000333782 rs886052765 CA10648934	88	F>L	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs763481567 CA8459862 RCV001309225 RCV001128387	94	R>Q	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM976892 rs764558972 CA8459863 RCV001240196 COSM1588739 RCV002567945	94	R>W	Variant assessed as Somatic; 0.0 impact. endometrium Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001301732 CA8459825 rs368608427 RCV002486160	118	R>Q	Idiopathic CD4 lymphocytopenia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200211619 CA8459823 RCV001041000 RCV001128386	119	R>Q	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs139497685 CA8459824 RCV001209191 RCV002561704	119	R>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002555875 RCV001068948 CA8459819 rs374271322	124	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001052351 RCV002553280 rs199705690 CA8459804 RCV001128385	140	L>R	Cone-rod dystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001070880 rs146916036 CA8459764 RCV000273021 RCV000768362	168	R>C	Idiopathic CD4 lymphocytopenia Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002521099 rs561712812 RCV001368215 CA8459759 RCV000363510	170	Q>R	Cone-rod dystrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000304132 rs772710984 CA8459756	176	D>N	Variant assessed as Somatic; 0.0 impact. Cone-rod dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs145972313 RCV001126342 CA8459747 RCV001315674	196	F>L	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8459708 rs375147970 RCV001244220 RCV000407872	209	R>H	Cone-rod dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001126341 rs2070217294	230	N>S	Cone-rod dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1333991796	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762269105 RCV001201564	2	K>*		No	ClinVar dbSNP
rs1401601451 CA398336990 RCV001343073	3	V>L		No	ClinGen ClinVar TOPMed dbSNP
rs1319043137 CA398336970	4	K>N		No	ClinGen gnomAD
rs1329651566 CA398336965	5	K>E		No	ClinGen TOPMed
RCV001205022 rs1380890833	5	K>missing		No	ClinVar dbSNP
CA398336939 rs1463349427	6	G>D		No	ClinGen gnomAD
rs1466913337 CA398336917	8	G>S		No	ClinGen gnomAD
rs1164865388 CA398336882	10	A>S		No	ClinGen gnomAD
rs1374905051 CA398336867	11	G>R		No	ClinGen gnomAD
rs755093996 CA8459915	12	T>M		No	ClinGen ExAC gnomAD
RCV001302024 rs1312163292 CA398336826	13	A>V		No	ClinGen ClinVar TOPMed dbSNP
CA398336818 rs1260765830	14	T>A		No	ClinGen gnomAD
rs780109473 CA8459913	15	E>D		No	ClinGen ExAC gnomAD
rs1319967326 CA398336783	16	S>P		No	ClinGen TOPMed
CA398336744 rs1213022558	18	P>L		No	ClinGen gnomAD
rs1458110917 CA398336753	18	P>S		No	ClinGen TOPMed
CA8459909 rs756869441	21	S>L		No	ClinGen ExAC gnomAD
rs199714731 CA398336678	22	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA398336646 rs1372225795	24	S>N		No	ClinGen gnomAD
rs1443509247 CA398336655	24	S>R		No	ClinGen TOPMed gnomAD
rs763797509 CA8459908	24	S>R		No	ClinGen ExAC gnomAD
CA398336595 rs1484063034	25	V>G		No	ClinGen TOPMed
CA289107338 rs1032547870	26	A>D		No	ClinGen TOPMed
CA398336587 rs1404145899	26	A>T		No	ClinGen gnomAD
CA289107336 rs1007666557	27	P>L		No	ClinGen TOPMed
rs1398705872 CA398336520	29	P>A		No	ClinGen TOPMed gnomAD
rs1168630959 CA398336510	29	P>L		No	ClinGen gnomAD
rs1398705872 CA398336517	29	P>T		No	ClinGen TOPMed gnomAD
rs762089399 CA289107329	31	P>T		No	ClinGen Ensembl
rs959835728 RCV001034757 CA289107319	32	P>H		No	ClinGen ClinVar dbSNP gnomAD
rs959835728 CA398336418	32	P>L		No	ClinGen gnomAD
CA398336415 rs1195756739	33	A>T		No	ClinGen gnomAD
rs1455387715 CA398336398	33	A>V		No	ClinGen gnomAD
TCGA novel	34	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192918511 CA398336342	35	S>Y		No	ClinGen gnomAD
CA398336323 rs1597580628	36	E>*		No	ClinGen Ensembl
rs868730245 CA289107318	38	G>W		No	ClinGen Ensembl
rs766857869 CA8459905 RCV001050804	39	S>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs867780790 CA289107308	41	S>*		No	ClinGen Ensembl
CA8459904 rs761096411	42	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1338211047 CA398336122	43	P>R		No	ClinGen TOPMed gnomAD
CA398336108 rs1236096534	44	D>N		No	ClinGen gnomAD
CA289107304 rs865988794	45	A>S		No	ClinGen TOPMed gnomAD
rs1303201613 CA398336052	46	G>S		No	ClinGen gnomAD
rs773558317 CA8459903	47	P>T		No	ClinGen ExAC gnomAD
CA398336010 rs1337977868	48	G>E		No	ClinGen gnomAD
CA289107300 rs1051939683	48	G>R		No	ClinGen TOPMed
CA398336000 rs1449078229	49	P>S		No	ClinGen TOPMed
CA398335952 rs1368824406	51	P>Q		No	ClinGen gnomAD
CA8459902 rs772318120	51	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1381402581 CA398335913	53	P>L		No	ClinGen TOPMed gnomAD
RCV001236000 CA8459899 rs769040443	55	Q>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1476926731 CA398335819	56	R>K		No	ClinGen gnomAD
TCGA novel	60	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249052573 CA398335686	60	I>M		No	ClinGen TOPMed gnomAD
rs1482426111 CA398335699	60	I>T		No	ClinGen TOPMed gnomAD
rs1212560249 CA398335684	61	G>R		No	ClinGen gnomAD
rs1217772028 CA398335657	62	P>L		No	ClinGen gnomAD
rs1279162528 CA398335666	62	P>S		No	ClinGen gnomAD
rs1353315880 CA398335644	63	E>*		No	ClinGen TOPMed gnomAD
rs1239007277 CA398335610	64	D>N		No	ClinGen TOPMed gnomAD
CA398335606 rs1239007277	64	D>Y		No	ClinGen TOPMed gnomAD
CA8459895 rs781259828	67	G>W		No	ClinGen ExAC gnomAD
TCGA novel	68	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482033064 CA398335526	68	L>M		No	ClinGen TOPMed
CA398335491 rs1415482870	69	Q>R		No	ClinGen gnomAD
CA398335473 rs1253700255	70	R>W		No	ClinGen TOPMed gnomAD
rs1409946830 CA398335411	73	G>D		No	ClinGen gnomAD
CA289107248 rs900462989 RCV001244868	73	G>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1226515301 CA398333277	76	L>F		No	ClinGen TOPMed gnomAD
rs777555977 CA8459872	77	C>S		No	ClinGen ExAC TOPMed gnomAD
CA8459869 rs778684082	79	P>L		No	ClinGen ExAC gnomAD
CA398333112 rs1443692837	80	E>A		No	ClinGen TOPMed gnomAD
CA398333116 rs1291739810	80	E>Q		No	ClinGen gnomAD
RCV001045945 rs1207082173	81	E>missing		No	ClinVar dbSNP
CA398332962 rs1454768411	83	I>T		No	ClinGen TOPMed
CA398332877 rs1307005588	84	Y>F		No	ClinGen gnomAD
rs762433273 RCV001239577 CA8459865	87	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA398332748 rs1263870280	88	F>Y		No	ClinGen gnomAD
rs1432978617 CA398332537	93	I>T		No	ClinGen gnomAD
CA8459861 rs775564636 COSM3362046 COSM3362045	98	S>L	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770107395 CA8459860	99	G>D		No	ClinGen ExAC gnomAD
CA398332336 rs1203268098	100	T>I		No	ClinGen gnomAD
rs367972913 CA8459859	102	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs541605120 CA289104679	108	P>S		No	ClinGen TOPMed gnomAD
rs541605120 CA398332131	108	P>T		No	ClinGen TOPMed gnomAD
rs576152675 CA8459854	109	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs778398457 CA8459828	113	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771156231 CA8459829 RCV001208759	113	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA398331784 rs1246558944	116	I>T		No	ClinGen TOPMed
CA289104161 rs370173136	116	I>V		No	ClinGen Ensembl
rs878965684 CA289104151	117	N>H		No	ClinGen Ensembl
rs752943228 CA8459826	118	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	120	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA289104135 rs912762781	120	D>Y		No	ClinGen TOPMed gnomAD
RCV001238460 rs1436225955	121	L>P		No	ClinVar dbSNP
rs1436225955 CA398331667	121	L>R		No	ClinGen gnomAD
CA8459822 rs766635958	122	D>N		No	ClinGen ExAC gnomAD
rs372132951 CA289104120	123	P>L		No	ClinGen gnomAD
rs773311477 CA8459820	124	N>D		No	ClinGen ExAC TOPMed gnomAD
CA398331603 rs374271322	124	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs769842915 CA289104100	126	G>R		No	ClinGen Ensembl
CA398331542 rs1456471853	126	G>V		No	ClinGen gnomAD
rs761823478 CA8459818 RCV000391018 COSM1381665 COSM1381666	127	R>C	Variant assessed as Somatic; 4.687e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA398331533 RCV001297792 rs1449809472	127	R>H		No	ClinGen ClinVar dbSNP gnomAD
CA8459814 RCV000788263 rs200895223	130	R>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs769614921 CA8459813	130	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200895223 CA8459815	130	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA289104061 rs147084613	131	Y>*		No	ClinGen ESP
rs1456516962 CA398331379	132	Q>E		No	ClinGen TOPMed
CA8459812 rs745335874	132	Q>P		No	ClinGen ExAC gnomAD
RCV001345646 CA8459811 rs780859514	134	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs141782779 CA289104052	135	P>L		No	ClinGen ESP TOPMed gnomAD
rs1236967314 CA398331238	136	A>T		No	ClinGen TOPMed gnomAD
rs754193171 CA8459807	139	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8459805 RCV001055976 COSM242172 rs201337554	139	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201337554 CA398331165	139	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754193171 CA8459806 RCV001339888	139	R>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs199591380 CA289104026	142	Q>H		No	ClinGen Ensembl
CA398331099 rs1597577718	143	V>G		No	ClinGen Ensembl
CA8459803 rs535665290	143	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA8459802 rs767590360	146	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759458653 CA398330963	147	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8459777 rs759458653	147	V>M		No	ClinGen ExAC TOPMed gnomAD
CA398330950 rs1433793949	148	E>K		No	ClinGen TOPMed
rs113789438 CA289103789	149	F>S		No	ClinGen Ensembl
rs1348741100 CA398330902	150	T>A		No	ClinGen gnomAD
rs201561039 CA8459773	151	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA8459774 rs760190422	151	V>M		No	ClinGen ExAC gnomAD
CA289103761 rs936434720	152	G>*		No	ClinGen Ensembl
TCGA novel	153	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390687252 CA398330853	157	N>K		No	ClinGen gnomAD
CA8459772 rs769149335	157	N>S		No	ClinGen ExAC gnomAD
CA398330858 rs1333185868	157	N>Y		No	ClinGen gnomAD
rs749800158 CA8459771	159	F>I		No	ClinGen ExAC gnomAD
rs780605701 RCV001229499 CA8459770	160	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA289103743 rs986396601 COSM976891 COSM1588740	160	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA398330833 rs986396601	160	R>L		No	ClinGen TOPMed gnomAD
CA8459768 CA398330825 rs746281947	161	M>I		No	ClinGen ExAC gnomAD
rs1472958922 CA398330828	161	M>T		No	ClinGen gnomAD
CA398330831 rs1317539504	161	M>V		No	ClinGen Ensembl
RCV001342633 rs781446944 CA398330818	162	I>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA398330816 rs930130211	163	E>*		No	ClinGen TOPMed gnomAD
CA8459766 rs757455632	163	E>G		No	ClinGen ExAC gnomAD
CA289103730 rs930130211	163	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1269071945 CA398330805	164	R>S		No	ClinGen TOPMed
CA398330793 rs1597577504	166	Y>S		No	ClinGen Ensembl
rs747066565 CA8459765	167	F>L		No	ClinGen ExAC gnomAD
RCV001295914 CA8459762 rs140667534	168	R>H		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs140667534 CA8459763	168	R>L		No	ClinGen ESP ExAC gnomAD
rs184171969 CA8459760	169	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184171969 CA398330775	169	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA398330761 rs1488820534	171	L>P		No	ClinGen TOPMed
CA398330757 rs1347547233	172	L>F		No	ClinGen gnomAD
rs199723120 CA398330741	174	S>I		No	ClinGen ExAC TOPMed gnomAD
rs199723120 CA8459758	174	S>T		No	ClinGen ExAC TOPMed gnomAD
rs923232858 CA289103694	178	H>R		No	ClinGen Ensembl
rs766931999 CA8459755	179	F>L		No	ClinGen ExAC TOPMed gnomAD
CA398330677 rs1412324327	183	I>F		No	ClinGen TOPMed
CA398330668 rs1567610440	184	P>R		No	ClinGen Ensembl
rs201365033 CA289103677	186	S>R		No	ClinGen TOPMed gnomAD
rs1405456098 CA398330619	191	E>*		No	ClinGen gnomAD
rs775955980 CA8459753	191	E>A		No	ClinGen ExAC TOPMed gnomAD
CA398330620 COSM1588741 COSM976890 rs1405456098	191	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746193923 CA8459751	193	I>F		No	ClinGen ExAC gnomAD
CA289103668 rs371960163	195	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
RCV001343778 rs145972313 CA8459748	196	F>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA289103654 rs372931422	196	F>L		No	ClinGen ESP TOPMed
rs145972313 CA8459749	196	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749907996 CA289103650	197	P>A		No	ClinGen gnomAD
rs1292222524 CA398330578	197	P>R		No	ClinGen TOPMed
CA8459746 rs748275791	198	P>A		No	ClinGen ExAC TOPMed gnomAD
rs533961665 CA289103642	198	P>R		No	ClinGen 1000Genomes gnomAD
rs748275791 CA8459745	198	P>T		No	ClinGen ExAC TOPMed gnomAD
rs762519155	199	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs867150502 CA289103638	200	S>F		No	ClinGen Ensembl
CA8459743 rs764936506	201	E>*		No	ClinGen ExAC TOPMed gnomAD
rs764936506 CA8459742	201	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8459711 rs199639417	206	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330748566 CA398328940	208	I>T		No	ClinGen TOPMed
CA8459709 rs531404546 RCV001246789	209	R>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA398328871 rs1457806078	210	H>Q		No	ClinGen gnomAD
CA8459707 rs749424586	211	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749424586 CA8459706	211	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8459703 rs745608137	212	Y>C		No	ClinGen ExAC gnomAD
CA8459704 rs745608137	212	Y>F		No	ClinGen ExAC gnomAD
CA8459700 rs751195671	216	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	219	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398328612 rs1480345106	219	F>S		No	ClinGen TOPMed
rs777445873 CA8459699	219	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1210572569 CA398328584	220	Y>F		No	ClinGen TOPMed gnomAD
rs1210572569 CA398328587	220	Y>S		No	ClinGen TOPMed gnomAD
rs139354163 CA398328550	221	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1352196859 CA398328535	222	V>A		No	ClinGen TOPMed gnomAD
CA8459697 rs752277305	222	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1567610118 CA398328519	223	D>G		No	ClinGen Ensembl
rs372687395 CA8459696 RCV001242471	225	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs969504849 CA289103246	225	R>W		No	ClinGen Ensembl
CA8459694 rs750759432	227	V>G		No	ClinGen ExAC gnomAD
rs898900330 CA289103230	234	Y>C		No	ClinGen TOPMed gnomAD
CA398328077 rs767981770	237	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8459692 rs143353275 RCV001347943	238	G>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs143353275 CA289103228	238	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459531832 CA398328018	239	T>I		No	ClinGen gnomAD
CA8459688 rs374057377	240	P>R		No	ClinGen ESP ExAC gnomAD
rs762890950 CA398328007	240	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762890950 CA8459689	240	P>T		No	ClinGen ExAC TOPMed gnomAD

2 associated diseases with Q13432

[MIM: 615518]: Immunodeficiency 13 (IMD13)

A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy. {ECO:0000269|PubMed:22184408}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy. {ECO:0000269|PubMed:22184408}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q13432

Type	Name	Position	InterPro Accession
domain	GMP phosphodiesterase, delta subunit	80 - 236	IPR008015

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Cytoplasm, cytoskeleton, spindle	Localizes to the centrosome in interphase cells and begins to translocate from the spindle pole to the spindle midzone after the onset of mitosis; it then localizes to the intercellular bridge in telophase cells and to the midbody in cytokinetic cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
spindle midzone	The area in the center of the spindle where the spindle microtubules from opposite poles overlap.
spindle pole	Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

1 GO annotations of molecular function

Name	Definition
lipid binding	Binding to a lipid.

10 GO annotations of biological process

Name	Definition
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
lipoprotein transport	The directed movement of any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
mitotic cytokinesis	A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
negative regulation of caveolin-mediated endocytosis	Any process that stops, prevents or reduces the frequency, rate or extent of caveolin-mediated endocytosis.
negative regulation of clathrin-dependent endocytosis	Any process that stops, prevents or reduces the frequency, rate or extent of clathrin-mediated endocytosis.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
phototransduction	The sequence of reactions within a cell required to convert absorbed photons into a molecular signal.
positive regulation of protein tyrosine kinase activity	Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SYR2	UNC119	Protein unc-119 homolog A	Bos taurus (Bovine)	PR
O19177	UNC119	Protein unc-119 homolog A	Canis lupus familiaris (Dog) (Canis familiaris)	PR
Q9Z2R6	Unc119	Protein unc-119 homolog A	Mus musculus (Mouse)	PR
Q62885	Unc119	Protein unc-119 homolog A	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MKVKKGGGGA	GTATESAPGP	SGQSVAPIPQ	PPAESESGSE	SEPDAGPGPR	PGPLQRKQPI
70	80	90	100	110	120
GPEDVLGLQR	ITGDYLCSPE	ENIYKIDFVR	FKIRDMDSGT	VLFEIKKPPV	SERLPINRRD
130	140	150	160	170	180
LDPNAGRFVR	YQFTPAFLRL	RQVGATVEFT	VGDKPVNNFR	MIERHYFRNQ	LLKSFDFHFG
190	200	210	220	230
FCIPSSKNTC	EHIYDFPPLS	EELISEMIRH	PYETQSDSFY	FVDDRLVMHN	KADYSYSGTP