AiPD: Autoinhibited Protein Database

A6NGC4

Gene name	TLCD2
Protein name	TLC domain-containing protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:727910
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

202-264 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

202-264 (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 A6NGC4

Entry ID	Method	Resolution	Chain	Position	Source
AF-A6NGC4-F1	Predicted				AlphaFoldDB

230 variants for A6NGC4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1470718803 CA397581838	2	A>E		No	ClinGen gnomAD
rs1470718803 CA397581834	2	A>V		No	ClinGen gnomAD
rs1179291369 CA397581802	4	T>M		No	ClinGen gnomAD
CA397581814 rs1241716262	4	T>P		No	ClinGen gnomAD
CA397581776 rs1212436500	6	L>P		No	ClinGen gnomAD
rs1277844777 CA397581758	8	V>G		No	gnomAD ClinGen
CA397581742 rs1331616266	10	G>S		No	TOPMed ClinGen
CA397581738 rs1205579891	11	A>T		No	ClinGen TOPMed gnomAD
CA397581695 rs1206351761	15	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs533065466 CA8272863	17	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1294091906 CA397581667	18	G>E		No	ClinGen gnomAD
rs967293641 CA286851818	20	H>Y		No	gnomAD ClinGen
rs1227392375 CA397581639	21	W>*		No	gnomAD ClinGen
CA397581622 rs1401781381	21	W>*		No	ClinGen gnomAD
rs565588981 CA286851817	22	G>V		No	1000Genomes ClinGen
rs1157352016 CA397581587	24	R>Q		No	ClinGen TOPMed gnomAD
rs1182231526 CA397581596	24	R>W		No	ClinGen TOPMed
rs1457004852 CA397581584	25	R>W		No	gnomAD ClinGen
rs1418147245 CA397581570	27	P>S		No	ClinGen gnomAD
CA397581541 rs1473943666	29	P>L		No	ClinGen gnomAD
CA397581520 rs1236383469	31	S>L		No	gnomAD ClinGen
CA286851809 rs1020137749	32	A>T		No	gnomAD ClinGen
rs1453261062 CA397581499	33	A>G		No	ClinGen TOPMed gnomAD
rs1281936213 CA397581507	33	A>P		No	ClinGen TOPMed gnomAD
CA397581505 rs1281936213	33	A>T		No	ClinGen TOPMed gnomAD
CA286851789 rs914436019	34	R>P		No	TOPMed gnomAD ClinGen
CA397581483 rs1352842179	35	D>N		No	ClinGen TOPMed
rs985949760 CA397581469	36	R>C		No	ClinGen TOPMed gnomAD
rs985949760 CA286851779	36	R>G		No	ClinGen TOPMed gnomAD
CA397581467 rs1235362166	36	R>H		No	ClinGen TOPMed gnomAD
CA397581451 rs1354402732	37	W>*		No	gnomAD ClinGen
CA397581446 rs1283650982	37	W>C		No	gnomAD ClinGen
rs1364423508 CA397581427	38	Q>H		No	ClinGen gnomAD
CA397581405 rs1432160087	40	W>R		No	gnomAD ClinGen
CA397581374 rs1597267578	42	L>P		No	ClinGen Ensembl
rs1434840445 CA397581360	44	V>I		No	ClinGen gnomAD
rs1242093417 CA397581344	45	S>C		No	TOPMed ClinGen
CA397581336 rs1428651969	46	L>P		No	ClinGen TOPMed gnomAD
CA397581332 rs1347044803	47	A>T		No	gnomAD ClinGen
CA286851776 rs1030398109	47	A>V		No	TOPMed gnomAD ClinGen
rs1403234875 CA397581322	48	H>Y		No	ClinGen gnomAD
CA397581298 rs1167962799	50	L>V		No	gnomAD ClinGen
rs1203774331 CA397581290	51	L>F		No	TOPMed ClinGen
CA286851766 rs976085588	51	L>P		No	ClinGen TOPMed gnomAD
rs954393778 CA286851762	52	S>L		No	gnomAD ClinGen
CA397581271 rs1187791029	53	G>E		No	ClinGen gnomAD
CA397581246 rs1254633086	55	G>E		No	ClinGen gnomAD
CA397581255 rs1422305739	55	G>R		No	TOPMed ClinGen
CA397581243 rs1185610221	56	A>T		No	TOPMed ClinGen
CA397581234 rs1215840493	56	A>V		No	ClinGen gnomAD
CA397581232 rs1450051482	57	L>V		No	ClinGen gnomAD
CA8272860 rs749812841	59	G>S		No	ExAC TOPMed gnomAD ClinGen
CA286851497 rs987410614	63	Y>F		No	TOPMed gnomAD ClinGen
rs766144553 CA8272847	63	Y>H		No	ExAC gnomAD ClinGen
rs954764686 CA286851489	64	P>R		No	ClinGen Ensembl
rs573812115 CA8272846	65	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750329378 CA8272845	65	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA397581113 rs1227906712	66	M>T		No	TOPMed ClinGen
rs1374333426 CA397581117	66	M>V		No	ClinGen TOPMed
rs1434751474 CA397581093	68	A>T		No	gnomAD ClinGen
CA397581064 rs1377222397	70	P>H		No	TOPMed gnomAD ClinGen
CA397581059 rs1377222397	70	P>L		No	TOPMed gnomAD ClinGen
rs1310704807 CA397581066	70	P>S		No	TOPMed ClinGen
CA397581022 rs1432389468	73	G>D		No	ClinGen TOPMed gnomAD
CA397581026 rs1173796212	73	G>R		No	gnomAD ClinGen
rs764774562 CA8272844	74	H>Y		No	ExAC gnomAD ClinGen
CA8272843 rs761177924	75	P>L		No	ExAC TOPMed gnomAD ClinGen
rs557007278 CA8272842	76	R>C		No	1000Genomes ExAC gnomAD ClinGen
CA8272841 rs763598019	76	R>L		No	ExAC gnomAD ClinGen
rs1180885787 CA397580974	77	W>*		No	ClinGen TOPMed
rs996232337 CA286851465	78	A>T		No	ClinGen TOPMed gnomAD
CA397580935 rs1312049626	81	L>P		No	gnomAD ClinGen
rs571042673 CA8272839	82	V>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1348271386 CA397580905	85	S>P		No	gnomAD ClinGen
CA286851202 rs1035174136	87	G>D		No	ClinGen TOPMed gnomAD
rs1287263307 CA397580884	87	G>R		No	ClinGen TOPMed gnomAD
CA397580831 rs1420860202	89	F>L		No	ClinGen TOPMed gnomAD
CA397580815 rs1159233496	90	L>P		No	TOPMed ClinGen
CA397580791 rs1190988650	92	D>E		No	TOPMed gnomAD ClinGen
rs1423330679 CA397580789	93	G>R		No	TOPMed ClinGen
CA286851200 rs1000073451	94	A>G		No	TOPMed gnomAD ClinGen
rs1296377311 CA397580757	95	D>E		No	ClinGen gnomAD
rs1305222873 CA397580768	95	D>N		No	TOPMed ClinGen
TCGA novel	95	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs950422730 CA286851193	96	L>V		No	TOPMed ClinGen
rs74974013 CA286851187	97	L>P		No	Ensembl ClinGen
rs1489241006 CA397580712	100	Q>E		No	gnomAD ClinGen
CA397580707 rs1263276502	100	Q>H		No	TOPMed gnomAD ClinGen
rs779865030 CA8272829	101	T>A		No	ExAC TOPMed gnomAD ClinGen
CA286851183 rs1025822129	102	L>F		No	ClinGen TOPMed gnomAD
rs1490493046 CA397580686	103	G>S		No	TOPMed ClinGen
CA286851181 rs1014821868	105	T>S		No	gnomAD ClinGen
rs1364269878 CA397580635	107	D>N		No	gnomAD ClinGen
CA8272828 rs758166637	108	L>F		No	ExAC TOPMed gnomAD ClinGen
rs1421133654 CA397580608	109	L>V		No	ClinGen TOPMed
rs892842712 CA286851163	110	C>*		No	TOPMed gnomAD ClinGen
rs535618979 CA286851161	112	H>Y		No	ClinGen 1000Genomes
CA286851159 rs896093523	114	V>L		No	Ensembl ClinGen
CA397580542 rs896093523	114	V>M		No	ClinGen Ensembl
CA286850062 rs533525631	122	A>T		No	1000Genomes TOPMed gnomAD ClinGen
CA397579818 rs1202100314	123	V>L		No	gnomAD ClinGen
rs1342681238 CA397579765	125	S>F		No	ClinGen TOPMed gnomAD
CA286850056 rs1021946857	126	G>S		No	ClinGen TOPMed
rs1163623596 CA397579744	127	H>Y		No	ClinGen Ensembl
rs1232858858 CA397579725	128	Y>C		No	gnomAD ClinGen
rs1290396109 CA397579703	129	V>M		No	ClinGen TOPMed gnomAD
rs1408094236 CA397579685	130	G>D		No	ClinGen gnomAD
CA397579675 rs1405549177	131	F>L		No	ClinGen TOPMed
rs144088832 CA8272817	131	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397579638 rs1416646364	132	S>P		No	gnomAD ClinGen
rs773857839 CA8272816	133	M>K		No	ClinGen ExAC TOPMed gnomAD
rs773857839 CA397579623	133	M>T		No	ExAC TOPMed gnomAD ClinGen
rs1400581163 CA397579626	133	M>V		No	TOPMed gnomAD ClinGen
rs770139222 CA8272815	134	V>M		No	ClinGen ExAC gnomAD
rs892255027 CA286850039	135	S>F		No	Ensembl ClinGen
rs1189596934 CA397579524	140	L>V		No	ClinGen TOPMed gnomAD
CA397579477 rs1440594160	142	S>Y		No	gnomAD ClinGen
rs188285575 CA8272813	143	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397579453 rs747280606	144	C>F		No	ExAC gnomAD ClinGen
CA8272811 rs747280606	144	C>Y		No	ClinGen ExAC gnomAD
rs1226792124 CA397579442	145	L>F		No	ClinGen gnomAD
CA397579437 rs1328654326	146	H>P		No	gnomAD ClinGen
rs900103558 CA286850003	147	L>P		No	TOPMed gnomAD ClinGen
CA286849993 rs542227481	148	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA286849998 rs1019843784	148	R>W		No	TOPMed gnomAD ClinGen
CA397579348 rs1339260766	151	L>P		No	ClinGen gnomAD
CA397579304 rs1567706101	153	L>F		No	Ensembl ClinGen
CA286849983 rs76935643	154	S>F		No	Ensembl ClinGen
CA397579291 rs1436281514	154	S>P		No	ClinGen TOPMed gnomAD
CA286849979 rs902011272	155	R>C		No	TOPMed gnomAD ClinGen
CA397579259 rs902011272	155	R>G		No	TOPMed gnomAD ClinGen
rs531651055 CA286849976	155	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA397579224 rs1164524916	156	Q>R		No	TOPMed gnomAD ClinGen
CA397579203 rs887324150	157	A>D		No	ClinGen TOPMed gnomAD
CA286849965 rs887324150	157	A>V		No	ClinGen TOPMed gnomAD
CA8272810 rs780199427	158	P>L		No	ExAC gnomAD ClinGen
rs771884211 CA8272809	159	S>T		No	ExAC gnomAD ClinGen
rs118155869 CA397579088 CA397579089	163	S>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA397579092 rs1230111572	163	S>T		No	ClinGen TOPMed gnomAD
rs778757726 CA8272807	164	V>M		No	ClinGen ExAC TOPMed gnomAD
CA286849946 rs368338688	165	T>I		No	ClinGen TOPMed
CA286849949 rs368338688	165	T>N		No	ClinGen TOPMed
rs1229766888 CA397579038	166	S>N		No	TOPMed gnomAD ClinGen
rs1229766888 CA397579034	166	S>T		No	TOPMed gnomAD ClinGen
CA397579016 rs1367857641	167	W>*		No	gnomAD ClinGen
CA397579015 rs1318918572	167	W>*		No	ClinGen TOPMed gnomAD
CA397579006 rs1434771328	168	A>S		No	ClinGen TOPMed gnomAD
CA397579010 rs1434771328	168	A>T		No	ClinGen TOPMed gnomAD
CA8272806 rs757209492	168	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1482298621 CA397578974	171	A>T		No	TOPMed ClinGen
rs1389383210 CA397578934	174	A>T		No	TOPMed gnomAD ClinGen
CA286849930 rs972177586	174	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	176	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754841981 CA286849928	177	R>C		No	TOPMed ClinGen
CA8272804 rs11654372	177	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1224039291 CA397578812	180	P>L		No	ClinGen TOPMed gnomAD
rs1247512132 CA397578824	180	P>S		No	gnomAD ClinGen
rs114785138 CA8272801	181	L>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA286849911 rs778029760	182	G>E		No	Ensembl ClinGen
CA397578785 rs1296058056	182	G>R		No	ClinGen TOPMed
rs926547468 CA286849909	184	M>L		No	ClinGen TOPMed
rs1344974614 CA397578710	185	S>N		No	gnomAD ClinGen
rs1295981572 CA397578687	186	L>P		No	ClinGen TOPMed gnomAD
rs1368666969 CA397578668	187	W>*		No	gnomAD ClinGen
rs1276318814 CA397578656	187	W>C		No	gnomAD ClinGen
rs540369223 CA286849902	188	L>P		No	1000Genomes TOPMed gnomAD ClinGen
rs1010561218 CA286849905	188	L>V		No	ClinGen Ensembl
CA397578622 rs1235508589	189	F>L		No	TOPMed ClinGen
rs767214896 CA8272800	189	F>V		No	ClinGen ExAC gnomAD
rs183401331 CA8272799	190	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA286849895 rs868219602	190	R>W		No	ClinGen TOPMed gnomAD
CA286849891 rs997963785 CA397578596	191	Q>H		No	ClinGen TOPMed gnomAD
rs1368659704 CA397578569	193	H>D		No	ClinGen gnomAD
CA397578528 rs1426989744	194	Q>H		No	ClinGen TOPMed gnomAD
CA397578535 rs1414889744	194	Q>R		No	ClinGen gnomAD
rs1477144420 CA397578491	196	P>L		No	gnomAD ClinGen
rs750807867 CA8272798	196	P>S		No	ClinGen ExAC TOPMed gnomAD
CA286849877 rs1040575048	203	G>A		No	TOPMed gnomAD ClinGen
CA286849874 rs988365662	205	I>T		No	ClinGen TOPMed gnomAD
CA397578379 rs1418974926	208	V>I		No	TOPMed ClinGen
CA8272796 rs762263272	210	V>A		No	ExAC gnomAD ClinGen
CA397578347 rs1313214779	210	V>M		No	gnomAD ClinGen
rs1156729603 CA397578316	211	G>A		No	TOPMed ClinGen
CA286849859 rs554161360	211	G>S		No	1000Genomes ClinGen
TCGA novel	212	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336799849 CA397578288	213	M>V		No	TOPMed gnomAD ClinGen
rs1007730003 CA286849857	217	L>V		No	ClinGen TOPMed gnomAD
CA286849841 rs1049348637	219	I>V		No	TOPMed gnomAD ClinGen
rs570018280 CA286849826	220	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA286849822 rs556402213	220	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs1161491078 CA397578073	227	L>P		No	gnomAD ClinGen
rs760704775 CA8272793	228	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA397578062 rs1413647184	228	Q>R		No	ClinGen gnomAD
CA397578045 rs1264500323	229	S>F		No	ClinGen TOPMed
rs200579817 CA8272792	230	R>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA286849812 rs928022483	230	R>Q		No	TOPMed gnomAD ClinGen
rs1473652533 CA397578033	231	P>A		No	ClinGen gnomAD
rs1473652533 CA397578031	231	P>S		No	gnomAD ClinGen
rs1597265903 CA397578020	232	H>D		No	ClinGen Ensembl
TCGA novel	232	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177186922 CA397577975	235	S>G		No	ClinGen gnomAD
CA286849802 rs1020031298	235	S>N		No	TOPMed ClinGen
CA397577965 rs1176761176 COSM3983275	235	S>R	ovary [Cosmic]	No	TOPMed ClinGen cosmic curated
rs947880645 CA286849800	237	G>D		No	ClinGen TOPMed gnomAD
CA397577934 rs1239685909	238	H>R		No	gnomAD ClinGen
CA397577912 rs1163736109	239	E>D		No	TOPMed ClinGen
CA397577881 rs1459603709	242	R>G		No	TOPMed ClinGen
CA286849779 rs915039165	245	R>S		No	ClinGen TOPMed gnomAD
CA286849773 rs1025826766	247	R>C		No	ClinGen TOPMed gnomAD
CA8272791 rs115339346	247	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs898924370 CA286849772	248	R>C		No	ClinGen TOPMed gnomAD
rs746087246 CA8272790	248	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397577803 rs746087246	248	R>L		No	ExAC TOPMed gnomAD ClinGen
rs1228352809 CA397577797	249	D>N		No	gnomAD ClinGen
CA397577755 rs1381275630	251	G>R		No	ClinGen gnomAD
CA286849753 rs1001899470	252	P>H		No	TOPMed gnomAD ClinGen
CA286849747 rs1001899470	252	P>L		No	TOPMed gnomAD ClinGen
rs1310971411 CA397577735	252	P>S		No	TOPMed ClinGen
rs369237705 CA8272789	254	T>I		No	ESP ExAC gnomAD ClinGen
CA397577706 rs1273407490	255	S>G		No	TOPMed ClinGen
rs1456981807 CA397577698	255	S>N		No	TOPMed ClinGen
CA397577639 rs1459001945	259	T>I		No	ClinGen TOPMed gnomAD
CA286849727 rs904905126	260	L>F		No	TOPMed gnomAD ClinGen
CA397577638 rs904905126	260	L>V		No	TOPMed gnomAD ClinGen
CA397577628 rs1158520485	261	S>C		No	ClinGen gnomAD
rs770738628 CA8272788	261	S>N		No	ClinGen ExAC gnomAD
rs749209251 CA8272787	262	L>V		No	ExAC gnomAD ClinGen
CA397577608 rs1180557987	263	K>Q		No	gnomAD ClinGen
CA8272785 rs755693001	265	D>W		No	ExAC gnomAD ClinGen
rs747601181 CA8272784	265	D>Y		No	ExAC gnomAD ClinGen

No associated diseases with A6NGC4

1 regional properties for A6NGC4

Type	Name	Position	InterPro Accession
conserved_site	Thymidine kinase, conserved site	232 - 245	IPR020633

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
lipid homeostasis	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
membrane assembly	The aggregation, arrangement and bonding together of a set of components to form a membrane.
phospholipid homeostasis	Any process involved in the maintenance of an internal steady state of phospholipid within an organism or cell.
plasma membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane.
regulation of membrane lipid distribution	Any process that modulates the proportions or spatial arrangement of lipids in a cellular membrane.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAPTGLLVAG	ASFLAFRGLH	WGLRRLPTPE	SAARDRWQWW	NLCVSLAHSL	LSGTGALLGL
70	80	90	100	110	120
SLYPQMAADP	IHGHPRWALV	LVAVSVGYFL	ADGADLLWNQ	TLGKTWDLLC	HHLVVVSCLS
130	140	150	160	170	180
TAVLSGHYVG	FSMVSLLLEL	NSACLHLRKL	LLLSRQAPSL	AFSVTSWASL	ATLALFRLVP
190	200	210	220	230	240
LGWMSLWLFR	QHHQVPLALV	TLGGIGLVTV	GIMSIILGIR	ILVNDVLQSR	PHPPSPGHEK
250	260
TRGTRTRRDN	GPVTSNSSTL	SLKD