AiPD: Autoinhibited Protein Database

Q9BSN7

Gene name	TMEM204 (C16orf30, CLP24, UNQ6509/PRO21434)
Protein name	Transmembrane protein 204
Names	Claudin-like protein 24
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79652
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

27-114 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

27-114 (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 Q9BSN7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BSN7-F1	Predicted				AlphaFoldDB

191 variants for Q9BSN7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM241936 CA7813858 rs369025963 RCV001333773	180	T>M	Saldino-Mainzer syndrome Variant assessed as Somatic; 0.0 impact. prostate breast [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA7813673 rs769815575	2	T>I		No	ClinGen ExAC gnomAD
CA7813675 rs749527191	3	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394229354 rs1314002424	4	Q>R		No	ClinGen gnomAD
TCGA novel	5	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370718011 CA7813676	6	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370718011 CA394229366	6	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761624608 CA394229371	7	V>L		No	ClinGen ExAC gnomAD
rs761624608 CA7813678	7	V>M		No	ClinGen ExAC gnomAD
CA7813679 rs771804583	8	A>G		No	ClinGen ExAC gnomAD
rs531539606 CA7813681	9	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs551545490 COSM120069 CA7813682	9	A>V	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM701866 rs764949974 CA7813685	11	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs201425887 CA7813686	13	V>A		No	ClinGen ExAC TOPMed gnomAD
rs201425887 CA276684125	13	V>E		No	ClinGen ExAC TOPMed gnomAD
CA394229429 rs1596319227	18	L>F		No	ClinGen Ensembl
rs1456243053 CA394229447	21	N>D		No	ClinGen gnomAD
CA7813688 rs767973939	23	V>M		No	ClinGen ExAC gnomAD
rs370619004 CA7813689	24	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs867281290 CA276684174	25	A>D		No	ClinGen Ensembl
rs756643935 CA7813690	26	F>C		No	ClinGen ExAC gnomAD
rs1475453446 CA394229489	27	T>I		No	ClinGen TOPMed
rs1230728320 CA394229495	28	S>F		No	ClinGen gnomAD
rs1045423739 CA276684179	29	N>T		No	ClinGen Ensembl
CA276684183 rs905779822	32	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs199525863 CA7813691	34	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374865562 CA7813692	35	L>P		No	ClinGen ESP ExAC gnomAD
CA7813693 rs754970737	36	E>Q		No	ClinGen ExAC gnomAD
CA7813694 rs367572920	39	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7813695 rs748346318	39	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394229567 rs1596319349	40	R>G		No	ClinGen Ensembl
rs772986376 CA7813697	41	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7813698 rs746977090	41	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394229577 rs746977090	41	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394229579 rs1166565780	42	S>G		No	ClinGen gnomAD
CA7813700 rs776365566	43	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1368748141 CA394229617	47	R>S		No	ClinGen gnomAD
CA394229633 rs1411803209	50	W>R		No	ClinGen gnomAD
CA394229649 rs762666113	52	V>A		No	ClinGen ExAC gnomAD
rs762666113 CA7813704	52	V>G		No	ClinGen ExAC gnomAD
rs775334376 CA7813703	52	V>M		No	ClinGen ExAC gnomAD
CA7813705 rs186729006	54	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA276684256 rs199572244	56	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7813707 rs756363610	56	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199572244 CA7813706	56	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7813708 VAR_051435 rs1057612	57	G>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7813709 rs754246477 CA7813710	58	G>R		No	ClinGen ExAC TOPMed gnomAD
CA394229677 rs754246477	58	G>W		No	ClinGen ExAC TOPMed gnomAD
CA7813711 rs778930774	59	P>L		No	ClinGen ExAC TOPMed gnomAD
CA394229691 rs1596319450	60	S>N		No	ClinGen Ensembl
CA7813712 rs748436089	61	P>R		No	ClinGen ExAC gnomAD
CA394229714 rs1427742860	64	R>T		No	ClinGen gnomAD
CA7813714 rs368847022	65	A>T		No	ClinGen ESP ExAC gnomAD
CA7813718 rs745773861	66	G>A		No	ClinGen ExAC gnomAD
rs770593310 CA7813717	66	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7813716 rs770593310	66	G>S		No	ClinGen ExAC TOPMed gnomAD
rs377027054 CA7813721	70	A>T		No	ClinGen ESP ExAC gnomAD
rs768423647 CA7813722	71	H>R		No	ClinGen ExAC gnomAD
CA394229755 rs1228193062	71	H>Y		No	ClinGen gnomAD
rs556819588 CA7813724	72	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394229769 rs1228700896	73	C>R		No	ClinGen gnomAD
CA7813728 rs371456439	75	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754407361 CA7813726	75	A>S		No	ClinGen ExAC gnomAD
CA7813727 rs371456439	75	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464265457 CA394229789	76	L>P		No	ClinGen TOPMed gnomAD
rs1596319548 CA394229793	77	G>C		No	ClinGen Ensembl
rs1186515824 CA394229801	78	W>R		No	ClinGen gnomAD
CA394229819 rs1249671129	79	G>D		No	ClinGen gnomAD
rs1350117081 CA394229828	80	S>C		No	ClinGen TOPMed
CA7813729 rs752786887	80	S>T		No	ClinGen ExAC gnomAD
rs778002297 CA7813731	81	E>K	Variant assessed as Somatic; 6.013e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778002297 CA394229832	81	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1412880845 CA394229852	82	A>V		No	ClinGen gnomAD
CA7813733 rs751685615	83	A>G		No	ClinGen ExAC
rs780821513 CA7813735	84	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7813736 rs745887023	85	F>L		No	ClinGen ExAC TOPMed gnomAD
CA394229889 rs1435309638	86	Q>*		No	ClinGen gnomAD
CA394229901 rs1273915874	87	E>K		No	ClinGen gnomAD
rs769845175 CA7813737	88	S>F		No	ClinGen ExAC gnomAD
rs1455262219 CA394229914	88	S>P		No	ClinGen TOPMed
CA394229923 rs1178115225	89	R>*		No	ClinGen TOPMed
CA7813739 rs780085186	89	R>P		No	ClinGen ExAC
rs780085186 CA394229926	89	R>Q		No	ClinGen ExAC
CA7813741 rs377261314	91	T>I		No	ClinGen ESP ExAC
CA7813743 rs774099296 COSM1518089	92	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7813744 rs761339412	93	K>R		No	ClinGen ExAC gnomAD
rs148391234 CA394229974	94	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369163612 CA276637417	96	F>L		No	ClinGen ESP ExAC gnomAD
CA394194154 rs1306533181	96	F>V		No	ClinGen Ensembl
rs761898808 CA394194167	97	D>H		No	ClinGen ExAC TOPMed gnomAD
rs761898808 CA7813772	97	D>N		No	ClinGen ExAC TOPMed gnomAD
rs761898808 CA7813771	97	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA394194194 rs1358241840	98	M>I		No	ClinGen TOPMed gnomAD
rs569958410 CA7813773	98	M>R		No	ClinGen ExAC gnomAD
rs569958410 CA276637454	98	M>T		No	ClinGen ExAC gnomAD
CA276637449 rs1024433876	98	M>V		No	ClinGen TOPMed
CA7813774 rs188607058	99	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA394194218 rs1567348734	100	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA394194225 rs1482760733	101	A>T		No	ClinGen TOPMed gnomAD
CA394194259 rs1203186962	103	N>S		No	ClinGen gnomAD
rs753892008 CA7813777	104	L>M		No	ClinGen ExAC gnomAD
rs1438843392 CA394194270	104	L>P		No	ClinGen gnomAD
rs753892008 CA7813776	104	L>V		No	ClinGen ExAC gnomAD
rs747616854 CA7813779	107	T>M		No	ClinGen ExAC gnomAD
rs746643673 CA7813782 COSM967485	109	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7813783 rs373793395	109	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs769060347 CA7813786	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774858636 CA7813787	115	L>V		No	ClinGen ExAC gnomAD
CA394194418 rs1232149786	120	G>R		No	ClinGen TOPMed
rs1596331597 CA394194432	122	V>G		No	ClinGen Ensembl
rs773604691 CA7813791	122	V>L		No	ClinGen ExAC TOPMed gnomAD
rs766333793 CA7813793	123	G>D		No	ClinGen ExAC gnomAD
CA7813792 rs760973330	123	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1166749773 CA394194440	124	L>P		No	ClinGen gnomAD
CA394194443 rs1254748692	125	P>A		No	ClinGen gnomAD
rs377659497 CA7813796	127	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7813799 rs184706289	130	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM967486 rs746733374 CA7813801	131	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201327024 CA7813802	132	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201327024 CA7813803	132	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1170723222 CA394194533	132	P>S		No	ClinGen gnomAD
rs1433124635 CA394194642	137	A>V		No	ClinGen gnomAD
rs550782857 CA7813806	138	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs948876866 CA276637710	138	M>V		No	ClinGen gnomAD
rs1232702059 CA394194672	139	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7813808 rs772107738	140	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772107738 CA394194684	140	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1251053071 CA394194694	140	A>V		No	ClinGen TOPMed
rs926335038 CA276637735	142	F>C		No	ClinGen Ensembl
CA394194733 rs1220256528	145	A>S		No	ClinGen TOPMed
rs373811188 CA7813810	145	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs766995769 CA7813839	148	V>G		No	ClinGen ExAC gnomAD
CA276649752 rs372011293	151	I>T		No	ClinGen ESP TOPMed
rs778455948 CA7813845	154	V>M		No	ClinGen ExAC gnomAD
rs757461337 CA7813847	157	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs757461337 CA276649814	157	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs146726791 CA7813846	157	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1334517411 CA394197485	158	R>G		No	ClinGen TOPMed
CA394197489 rs1185131101	158	R>K		No	ClinGen TOPMed gnomAD
CA394197511 rs1243541840	159	I>T		No	ClinGen gnomAD
CA394197577 rs1411777153	164	N>T		No	ClinGen gnomAD
rs368161601 CA276649829	167	W>R		No	ClinGen ESP TOPMed
rs1464992255 CA394197656	169	C>S		No	ClinGen gnomAD
rs374969149 CA276649836	171	L>P		No	ClinGen ESP TOPMed
rs1425979941 CA394197717	173	I>T		No	ClinGen gnomAD
CA394197749 rs1295007332	175	A>T		No	ClinGen gnomAD
CA7813857 rs772786284	179	A>G		No	ClinGen ExAC gnomAD
CA394197858 rs772786284	179	A>V		No	ClinGen ExAC gnomAD
rs1464303469 CA394197890	181	L>V		No	ClinGen gnomAD
rs1596356310 CA394197933	183	A>P		No	ClinGen Ensembl
CA7813860 rs753392968	185	M>I		No	ClinGen ExAC gnomAD
TCGA novel	188	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7813862 rs764530354	189	N>K		No	ClinGen ExAC gnomAD
rs758874015 CA7813861	189	N>T		No	ClinGen ExAC gnomAD
CA7813863 rs377282223	190	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7813867 rs745970358	193	K>N		No	ClinGen ExAC TOPMed gnomAD
rs781482681 CA7813866	193	K>R		No	ClinGen ExAC gnomAD
rs1273680801 CA394198262	195	E>D		No	ClinGen gnomAD
rs780351567 CA7813869	195	E>Q		No	ClinGen ExAC gnomAD
rs561462241 CA7813870	196	D>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	197	C>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7813871 rs768502475	199	A>T		No	ClinGen ExAC
rs1225233495 CA394198393	199	A>V		No	ClinGen gnomAD
rs772063146 CA7813874	201	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM129778 rs747873825 CA7813873	201	R>W	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs958205241 CA276649970	205	I>N		No	ClinGen TOPMed gnomAD
CA394198544 rs958205241	205	I>T		No	ClinGen TOPMed gnomAD
CA394198548 rs1216807875	206	S>R		No	ClinGen gnomAD
CA394198594 rs1567364044	207	R>C		No	ClinGen Ensembl
CA276649989 rs867272860	207	R>H		No	ClinGen TOPMed gnomAD
rs765775512 CA7813877	209	L>P		No	ClinGen ExAC gnomAD
CA276650009 rs1022265569	210	T>I		No	ClinGen Ensembl
CA7813879 rs199584846	211	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs199584846 CA7813878	211	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1629788 rs1410650271 CA394198728	212	R>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1363116645 CA394198732	212	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764618204 CA7813880	214	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7813881 rs751975732	214	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394198777 rs751975732	214	R>L		No	ClinGen ExAC TOPMed gnomAD
rs377642514 CA7813882	215	R>C		No	ClinGen ESP ExAC gnomAD
CA394198801 rs1296022250	215	R>H		No	ClinGen gnomAD
rs1369560063 CA394198818	216	G>E		No	ClinGen TOPMed
CA276650040 rs753725789	217	L>P		No	ClinGen Ensembl
CA7813883 rs768088733	217	L>V		No	ClinGen ExAC gnomAD
rs750850903 CA7813884	218	D>H		No	ClinGen ExAC gnomAD
CA276650050 rs754927083	220	D>N		No	ClinGen TOPMed
CA7813887 rs776603275	222	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776603275 CA7813886	222	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394199052 rs1420676403	225	P>A		No	ClinGen TOPMed
CA394199095 rs1314473178	227	C>G		No	ClinGen gnomAD
rs747961751 CA7813890	227	C>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9BSN7

No regional properties for Q9BSN7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BSN7

Functions

		Description
EC Number
Subcellular Localization	Cell junction, adherens junction Cell membrane ; Multi-pass membrane protein	Colocalizes with the beta-catenin adherins
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
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

3 GO annotations of biological process

Name	Definition
lymph vessel development	The process whose specific outcome is the progression of a lymph vessel over time, from its formation to the mature structure.
regulation of vascular endothelial growth factor receptor signaling pathway	Any process that modulates the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity.
smooth muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0IIE5	TMEM204	Transmembrane protein 204	Bos taurus (Bovine)	PR
Q7TQI0	Tmem204	Transmembrane protein 204	Mus musculus (Mouse)	PR
Q5M962	Tmem204	Transmembrane protein 204	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTVQRLVAAA	VLVALVSLIL	NNVAAFTSNW	VCQTLEDGRR	RSVGLWRSCW	LVDRTRGGPS
70	80	90	100	110	120
PGARAGQVDA	HDCEALGWGS	EAAGFQESRG	TVKLQFDMMR	ACNLVATAAL	TAGQLTFLLG
130	140	150	160	170	180
LVGLPLLSPD	APCWEEAMAA	AFQLASFVLV	IGLVTFYRIG	PYTNLSWSCY	LNIGACLLAT
190	200	210	220
LAAAMLIWNI	LHKREDCMAP	RVIVISRSLT	ARFRRGLDND	YVESPC