AiPD: Autoinhibited Protein Database

O75071

Gene name	EFCAB14 (KIAA0494)
Protein name	EF-hand calcium-binding domain-containing protein 14
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9813
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-54 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-54 (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 O75071

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75071-F1	Predicted				AlphaFoldDB

382 variants for O75071

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA340222269 rs1234935855	3	K>R		No	ClinGen TOPMed gnomAD
rs1314810781 CA340222264	4	R>C		No	ClinGen TOPMed gnomAD
rs1305671282 CA340222262 COSM1211949	4	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1314810781 CA340222263	4	R>S		No	ClinGen TOPMed gnomAD
rs1379687731 CA340222258	5	K>E		No	ClinGen gnomAD
rs747767522 CA838607	5	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	6	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340222238 rs1214139979	8	N>Y		No	ClinGen Ensembl
CA21990402 rs771935304	10	L>F		No	ClinGen Ensembl
rs754510804 CA838605	12	G>D		No	ClinGen ExAC gnomAD
CA21990394 rs916450856	13	L>F		No	ClinGen TOPMed
rs753291752 CA838604	14	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757775551 CA838602	17	S>G		No	ClinGen ExAC gnomAD
rs1557453787 CA340222173	18	R>Q		No	ClinGen Ensembl
rs751923454 CA838601	18	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	19	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA838600 rs546909979	20	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1243501700 CA340222160	20	K>R		No	ClinGen gnomAD
rs534541382 CA21990351	22	P>L		No	ClinGen Ensembl
CA838598 rs752997967	23	K>E		No	ClinGen ExAC gnomAD
rs561210861 CA838597	23	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1265292890 CA340222136	24	K>E		No	ClinGen gnomAD
rs1446118623 CA340222124	25	G>V		No	ClinGen Ensembl
CA340222121 rs1355270044	26	P>T		No	ClinGen TOPMed gnomAD
COSM1560583 CA340222089 rs1312338594	30	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM1503259 CA838596 rs200133048	33	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA340222075 rs1384269234	33	R>S		No	ClinGen gnomAD
rs770832349 CA838594	34	T>A		No	ClinGen ExAC TOPMed gnomAD
rs770832349 CA838595	34	T>P		No	ClinGen ExAC TOPMed gnomAD
rs760639819 CA838593	37	P>L		No	ClinGen ExAC gnomAD
rs1421535958 CA340222039	39	S>P		No	ClinGen gnomAD
CA838591 rs771934495	42	E>Q		No	ClinGen ExAC gnomAD
rs55769455 CA21990268	43	S>F		No	ClinGen gnomAD
CA340222007 rs1323016251	44	S>G		No	ClinGen gnomAD
CA838589 rs149633472	44	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs530476807 CA838588	45	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA340221991 rs1426524786	46	E>V		No	ClinGen gnomAD
CA340221988 rs1260560757	47	E>K		No	ClinGen gnomAD
CA838587 rs748867545	48	E>*		No	ClinGen ExAC gnomAD
rs563376523 CA838585	52	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1221166808 CA340221948	52	G>R		No	ClinGen TOPMed gnomAD
CA838583 rs770399544	54	V>L		No	ClinGen ExAC gnomAD
rs1326230892 CA340221930	55	G>E		No	ClinGen gnomAD
CA838582 rs145934943	56	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA340221920 rs1402049691	57	R>G		No	ClinGen gnomAD
TCGA novel	57	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340221919 rs1402049691	57	R>S		No	ClinGen gnomAD
rs1343947595 CA340221912	58	S>A		No	ClinGen gnomAD
TCGA novel	59	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA21990252 rs1022385140	59	R>P		No	ClinGen TOPMed
CA340221901 rs1302618374	60	F>I		No	ClinGen gnomAD
TCGA novel	61	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748589963 CA21990249	61	A>V		No	ClinGen gnomAD
CA340221872 rs1247917044	62	K>N		No	ClinGen gnomAD
rs1391282319 CA340221887	62	K>T		No	ClinGen gnomAD
TCGA novel	63	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340221859 rs1157307455	64	D>E		No	ClinGen TOPMed
CA340221865 rs755292180	64	D>N		No	ClinGen ExAC TOPMed gnomAD
CA838561 rs755292180	64	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA838560 rs766464320	65	Y>C		No	ClinGen ExAC gnomAD
rs766464320 CA838559	65	Y>S		No	ClinGen ExAC gnomAD
CA838558 rs376307604	67	R>*		No	ClinGen ESP ExAC gnomAD
CA838557 rs116760030	67	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767514722 CA838556	72	C>S		No	ClinGen ExAC gnomAD
rs373866464 CA838555	73	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs763840513 CA838553	74	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1192362148 CA340221795	74	P>S		No	ClinGen gnomAD
rs772763318 CA838548	76	C>S		No	ClinGen ExAC gnomAD
CA838547 rs772763318	76	C>Y		No	ClinGen ExAC gnomAD
CA340221779 rs1331995029	77	G>S		No	ClinGen gnomAD
CA838546 rs748635525	80	I>T		No	ClinGen ExAC TOPMed gnomAD
CA838545 rs779522082	85	V>A		No	ClinGen ExAC gnomAD
CA340221726 rs1414680156	85	V>F		No	ClinGen gnomAD
CA838544 rs769090110	87	A>T		No	ClinGen ExAC
rs991517968 CA21988754	87	A>V		No	ClinGen TOPMed gnomAD
rs749559734 CA838543	88	C>F		No	ClinGen ExAC TOPMed gnomAD
rs749559734 CA21988735	88	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA838542 rs780331251	89	V>D		No	ClinGen ExAC gnomAD
rs1557452935 CA340221699	90	G>D		No	ClinGen Ensembl
rs140345083 CA838540	92	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA838539 rs143195805	93	W>*		No	ClinGen ESP ExAC TOPMed
CA838538 rs757222428	94	M>V		No	ClinGen ExAC gnomAD
CA340221662 rs1444280036	95	Q>H		No	ClinGen gnomAD
rs751526732 CA838537	96	V>I		No	ClinGen ExAC gnomAD
rs763967171 CA838535	98	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1311618142 CA340221628	101	D>N		No	ClinGen gnomAD
CA340221603 rs1287815478	104	A>G		No	ClinGen TOPMed
CA21988613 rs887866858	105	L>F		No	ClinGen TOPMed gnomAD
rs1448500997 CA340221585	107	E>G		No	ClinGen TOPMed gnomAD
rs1448500997 CA340221583	107	E>V		No	ClinGen TOPMed gnomAD
CA340221573 rs1360466054	108	K>N		No	ClinGen gnomAD
CA340221571 rs1315826676	109	F>I		No	ClinGen TOPMed gnomAD
TCGA novel rs1315826676 CA340221572	109	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs1399566659 CA340221563	110	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA838533 rs371584113	110	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371584113 CA838534	110	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159977908 CA340221560	111	T>A		No	ClinGen TOPMed gnomAD
CA21988609 rs978058041	111	T>I		No	ClinGen Ensembl
CA340221556 rs776321985	112	M>L		No	ClinGen ExAC gnomAD
rs776321985 CA838530	112	M>V		No	ClinGen ExAC gnomAD
rs1223550543 CA340221249	113	E>K		No	ClinGen TOPMed
CA340221240 rs1197283120	114	S>P		No	ClinGen gnomAD
CA340221225 rs1490216131	116	Q>*		No	ClinGen gnomAD
CA21981185 rs1036710590	118	S>N		No	ClinGen Ensembl
rs1246010960 CA340221202	119	S>A		No	ClinGen TOPMed gnomAD
rs1246010960 CA340221203	119	S>P		No	ClinGen TOPMed gnomAD
CA340221191 rs1480466208	120	F>L		No	ClinGen TOPMed
CA838506 rs752596012	121	Q>R		No	ClinGen ExAC gnomAD
rs759336397 CA838504	124	P>A		No	ClinGen ExAC gnomAD
CA838502 rs766073516	125	K>R		No	ClinGen ExAC gnomAD
rs1442861274 CA340221144	127	N>K		No	ClinGen TOPMed
rs756283516 CA838501	127	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1022917782 COSM1172155 CA21981141	130	L>V	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA838497 COSM681884 rs763351702	138	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775966965 CA838496	139	K>R		No	ClinGen ExAC
CA21981068 rs12741265	141	E>D		No	ClinGen Ensembl
rs12741266 CA21981070	141	E>G		No	ClinGen Ensembl
CA838495 rs375481185	145	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA21981041 rs781489232	146	G>R		No	ClinGen Ensembl
rs746177817 CA838494	150	V>A		No	ClinGen ExAC gnomAD
CA340220984 rs746177817	150	V>G		No	ClinGen ExAC gnomAD
rs1174575739 CA340220972	152	I>K		No	ClinGen gnomAD
rs776849463 CA838493	152	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771072959 CA838492	153	N>I		No	ClinGen ExAC TOPMed gnomAD
rs533405972 CA838490	154	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340220950 rs1331620764	155	T>I		No	ClinGen TOPMed
rs758409944 CA838489	156	E>G		No	ClinGen ExAC TOPMed gnomAD
CA340220947 rs1489388194	156	E>K		No	ClinGen gnomAD
rs1197731767 CA340220926	158	N>K		No	ClinGen gnomAD
rs748068584 CA340220917	160	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs778862176 CA838487	160	Q>H		No	ClinGen ExAC gnomAD
rs748068584 CA838488	160	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA340220612 rs1211570989	162	S>F		No	ClinGen gnomAD
rs1314637926 CA340220610	163	L>V		No	ClinGen gnomAD
rs748202600 CA838468	164	L>F		No	ClinGen ExAC gnomAD
CA340220546 rs1313358533	170	H>Y		No	ClinGen gnomAD
rs754963330 CA838466	174	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1403128510 CA340220436	178	A>P		No	ClinGen gnomAD
CA838464 rs779976167	180	D>E		No	ClinGen ExAC gnomAD
rs1321410436 CA340220360	183	S>R		No	ClinGen TOPMed
rs548764532 CA838463	185	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA838462 rs750077756	186	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1159399048 CA340220325	187	T>A		No	ClinGen gnomAD
rs1245758009 CA340220292	189	E>D		No	ClinGen gnomAD
rs756727843 CA838460	190	G>E		No	ClinGen ExAC TOPMed gnomAD
CA838459 rs751011304	193	K>N		No	ClinGen ExAC gnomAD
rs751086383 CA838441	194	S>I		No	ClinGen ExAC gnomAD
rs879047271 CA21970693	194	S>R		No	ClinGen Ensembl
CA340219941 rs1569701170	195	V>I		No	ClinGen Ensembl
TCGA novel	196	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340219934 rs1266206583	196	A>T		No	ClinGen gnomAD
rs1357756049 CA340219918	198	I>T		No	ClinGen gnomAD
CA838440 rs777241756	199	G>D		No	ClinGen ExAC gnomAD
rs1464082796 CA340219910	200	N>D		No	ClinGen TOPMed
rs1401575220 CA340219906	200	N>I		No	ClinGen TOPMed
rs1401575220 CA340219907	200	N>S		No	ClinGen TOPMed
rs375064158 CA21970671	203	N>I		No	ClinGen ESP TOPMed gnomAD
CA340219882 rs1317451031	204	S>G		No	ClinGen gnomAD
rs1243654217 CA340219873	205	V>D		No	ClinGen TOPMed
rs372717491 CA838438	205	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766813921 CA838437	206	H>R		No	ClinGen ExAC gnomAD
rs141692192 CA838436	207	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA838434 rs767692271	207	L>H		No	ClinGen ExAC gnomAD
CA838435 rs141692192	207	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs767692271 CA340219862	207	L>P		No	ClinGen ExAC gnomAD
rs368573800 CA838433	208	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA21970593 rs1054317716	212	L>V		No	ClinGen TOPMed
rs763082783 CA838430	214	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780003341	216	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1557443509 CA340219803	217	D>N		No	ClinGen Ensembl
CA340219776 rs1200435796	220	K>R		No	ClinGen TOPMed
rs769783870 CA838427	222	T>A		No	ClinGen ExAC TOPMed gnomAD
CA838426 rs376186224	222	T>M		No	ClinGen ESP ExAC TOPMed
rs973472319 CA21970430	223	M>T		No	ClinGen TOPMed gnomAD
CA340219733 rs1194394696	226	L>P		No	ClinGen gnomAD
rs1259168002 CA340219721	228	S>N		No	ClinGen gnomAD
rs770537787 CA838423	228	S>R		No	ClinGen ExAC gnomAD
CA340219711 rs1557443467	229	D>V		No	ClinGen Ensembl
CA838406 rs759493629	232	Q>E		No	ClinGen ExAC gnomAD
CA340219595 rs759493629	232	Q>K		No	ClinGen ExAC gnomAD
CA21968385 rs1018361695	232	Q>L		No	ClinGen TOPMed gnomAD
rs1160418519 CA340219563	234	F>V		No	ClinGen TOPMed
TCGA novel	235	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_074176	239	P>S		No	UniProt
TCGA novel	243	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770789971 CA838403	244	I>M		No	ClinGen ExAC gnomAD
CA21968320 rs373594474	246	P>L		No	ClinGen TOPMed
rs771708802 CA21968281	248	P>S		No	ClinGen ExAC gnomAD
rs771708802 CA838400	248	P>T		No	ClinGen ExAC gnomAD
rs1389966195 CA340219353	250	A>P		No	ClinGen TOPMed
CA340219335 rs1381493175	251	T>I		No	ClinGen gnomAD
CA340219308 rs1472035142	253	E>D		No	ClinGen TOPMed gnomAD
CA21968269 rs947872045	255	D>G		No	ClinGen TOPMed gnomAD
CA838397 rs200564580	255	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA21968266 rs1029479107	256	N>S		No	ClinGen TOPMed gnomAD
CA340219243 rs1346843561	258	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781506952 CA838395	259	H>R		No	ClinGen ExAC gnomAD
rs1241986127 CA340219195	261	E>*		No	ClinGen gnomAD
TCGA novel	263	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340219159 rs1353966823	263	L>W		No	ClinGen gnomAD
rs150658610 CA838393	264	K>E		No	ClinGen ESP ExAC TOPMed
CA340219032 rs1461307892	266	D>G		No	ClinGen TOPMed
TCGA novel	267	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA838379 rs542845933	270	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1299568165 CA340218974	270	L>R		No	ClinGen gnomAD
CA340218950 rs1481500501	272	N>S		No	ClinGen gnomAD
CA340218934 rs1326980206	273	S>F		No	ClinGen TOPMed
CA340218933 rs1331377012	274	L>I		No	ClinGen TOPMed
rs200512269 CA838377	275	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA838378 rs748684149	275	E>K		No	ClinGen ExAC gnomAD
rs560791148 CA838376	276	E>K		No	ClinGen ExAC gnomAD
rs1049972090 CA21967567	277	V>I		No	ClinGen gnomAD
CA838375 rs747439604	278	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1425867657 CA340218891	280	A>S		No	ClinGen gnomAD
CA340218887 rs1487432440	281	L>V		No	ClinGen gnomAD
rs148579963 CA838372	282	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA340218874 rs1469672323	283	G>V		No	ClinGen TOPMed gnomAD
CA340218865 rs1297022162	284	Y>*		No	ClinGen gnomAD
CA340218867 rs1318223031	284	Y>C		No	ClinGen gnomAD
rs1197618042 CA340218870	284	Y>H		No	ClinGen gnomAD
rs375262002 CA838368	285	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374253277 CA21967436	288	N>S		No	ClinGen Ensembl
CA21967425 rs972698090	289	D>G		No	ClinGen Ensembl
rs373315968 CA838366	290	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232384279 CA340218817	290	L>P		No	ClinGen TOPMed
CA340218796 rs1439281411	292	L>V		No	ClinGen gnomAD
CA340218778 rs1466326841	293	E>G		No	ClinGen gnomAD
CA340218782 rs1331175477	293	E>K		No	ClinGen gnomAD
rs142339521 CA838364	294	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340218766 rs1402750287	294	G>R		No	ClinGen gnomAD
CA838362 TCGA novel rs768122133	295	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA838363 rs777370685	295	M>V		No	ClinGen ExAC TOPMed gnomAD
rs553095299 CA838361	297	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771618154 CA838359	300	S>G		No	ClinGen ExAC gnomAD
rs747490642 CA838358	304	Q>E		No	ClinGen ExAC gnomAD
CA21967295 rs920734132	307	N>S		No	ClinGen TOPMed
CA21967281 rs376205690	309	I>V		No	ClinGen ESP
TCGA novel	310	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772589424 CA838356	311	S>N		No	ClinGen ExAC TOPMed gnomAD
CA838354 rs755140698	312	D>H		No	ClinGen ExAC gnomAD
rs755140698 CA838353	312	D>N		No	ClinGen ExAC gnomAD
CA838351 rs779964859	314	V>F		No	ClinGen ExAC gnomAD
CA838350 rs758235999	319	V>A		No	ClinGen ExAC TOPMed gnomAD
rs970394436 CA21967236	320	E>V		No	ClinGen Ensembl
rs371300257 CA838349	322	K>E		No	ClinGen ESP ExAC gnomAD
CA838347 rs761596209	323	A>E		No	ClinGen ExAC gnomAD
rs767381891 CA838348	323	A>T		No	ClinGen ExAC gnomAD
CA838346 rs146213314	324	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA838345 rs763869209	325	L>R		No	ClinGen ExAC gnomAD
rs775107942 CA838343	326	S>T		No	ClinGen ExAC TOPMed gnomAD
rs769461445 CA838342	327	F>C		No	ClinGen ExAC
CA838341 rs759069106	328	S>G		No	ClinGen ExAC gnomAD
CA838340 rs773870130	329	M>V		No	ClinGen ExAC gnomAD
CA340218399 rs1318225267	330	M>V		No	ClinGen TOPMed gnomAD
CA340218381 rs1557441247	332	D>G		No	ClinGen Ensembl
CA340218385 rs1244518619	332	D>N		No	ClinGen gnomAD
rs1244518619 CA340218383	332	D>Y		No	ClinGen gnomAD
CA340218369 rs1569690367	334	S>P		No	ClinGen Ensembl
CA340218367 rs1446136643	334	S>Y		No	ClinGen Ensembl
rs1285827088 CA340218353	336	T>I		No	ClinGen TOPMed
rs6665021 VAR_048669 CA838317	337	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1217085909 CA340218341	338	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	339	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340218329 rs1298950868	340	Q>R		No	ClinGen gnomAD
CA838315 rs375767892	341	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1387065468 CA340218324	341	S>P		No	ClinGen gnomAD
CA21965794 rs1031469559	342	L>S		No	ClinGen TOPMed gnomAD
CA21965796 rs892591343	342	L>V		No	ClinGen Ensembl
rs749606157 CA838314	343	D>A		No	ClinGen ExAC gnomAD
rs1166622072 CA340218306	344	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1476660901 CA340218297	345	V>D		No	ClinGen gnomAD
CA21965777 rs1057462119	347	N>S		No	ClinGen TOPMed gnomAD
rs549415887 CA838313	348	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA838312 rs531197471	348	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA838310 rs781229853	349	T>R		No	ClinGen ExAC
rs746009501 CA838311	349	T>S		No	ClinGen ExAC gnomAD
CA21965709 rs371263884	350	D>V		No	ClinGen ESP TOPMed
rs200625014 CA838307	351	T>I		No	ClinGen ExAC gnomAD
CA838308 rs200625014	351	T>K		No	ClinGen ExAC gnomAD
rs200625014 CA21965687	351	T>R		No	ClinGen ExAC gnomAD
rs757262165 CA838309	351	T>S		No	ClinGen ExAC gnomAD
rs367944001 CA838305	354	I>M		No	ClinGen ESP ExAC gnomAD
CA340218249 rs1198934568	354	I>V		No	ClinGen TOPMed
CA21965644 rs1003045936	357	I>K		No	ClinGen TOPMed gnomAD
CA838288 rs748014271	359	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1157179876 CA340218174	362	S>N		No	ClinGen gnomAD
rs753565759 CA838285	364	N>D		No	ClinGen ExAC TOPMed gnomAD
rs753565759 CA838286	364	N>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	365	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340218140 rs1473745299	367	V>G		No	ClinGen TOPMed
rs755582345 CA838283	368	S>T		No	ClinGen ExAC gnomAD
CA838280 rs763498441	370	L>V		No	ClinGen ExAC gnomAD
rs1352689551 CA340218100	373	K>N		No	ClinGen TOPMed gnomAD
rs753006251 CA838278	373	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	374	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340218090 rs1279984164	375	Q>*		No	ClinGen gnomAD
rs1443920576 CA340218073	377	I>M		No	ClinGen TOPMed gnomAD
CA838277 rs759848365	378	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776853477 CA838276	378	S>R		No	ClinGen ExAC TOPMed gnomAD
rs915822099 CA21963953	379	A>T		No	ClinGen Ensembl
CA838275 rs371127428	380	L>V		No	ClinGen ESP ExAC gnomAD
rs1377754908 CA340218053	381	T>K		No	ClinGen gnomAD
CA340218050 rs1557440170	382	N>D		No	ClinGen Ensembl
CA340218036 rs1569685251	383	K>N		No	ClinGen Ensembl
CA838272 rs140908900	387	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200025396 CA340217999 CA340218000	388	R>S		No	ClinGen TOPMed gnomAD
CA838271 rs200934704	389	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA838270 rs778944195	391	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1569685147 CA340217980	392	T>P		No	ClinGen Ensembl
rs749021694 CA838268	393	A>T		No	ClinGen ExAC TOPMed gnomAD
CA340217966 rs1225271250	394	D>G		No	ClinGen gnomAD
CA340217969 rs201689563	394	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA838266 rs201689563	394	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA838248 rs769375112	397	Q>L		No	ClinGen ExAC gnomAD
rs1330875060 CA340217925	398	V>I		No	ClinGen gnomAD
CA340217911 rs1333457588	400	S>G		No	ClinGen TOPMed
rs972694203 CA21963014	400	S>I		No	ClinGen Ensembl
CA340217912 rs1333457588	400	S>R		No	ClinGen TOPMed
CA340217892 rs1327078850	402	T>K		No	ClinGen gnomAD
TCGA novel	407	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368772658 CA838247	408	L>M		No	ClinGen ESP ExAC gnomAD
rs756776637 CA838245	409	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs146999458 CA838243	410	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs149160356 CA838241	412	S>*		No	ClinGen ESP ExAC
rs147869476 CA838242	412	S>A		No	ClinGen ESP ExAC
rs754205225 CA838240	413	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs773560951	413	Q>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1252140568 CA340217796	417	D>E		No	ClinGen TOPMed gnomAD
rs1255779958 CA340217785	419	V>A		No	ClinGen gnomAD
CA838237 rs756384379	419	V>I		No	ClinGen ExAC gnomAD
rs767780899 CA838235	423	A>V		No	ClinGen ExAC gnomAD
CA838234 rs762049024	424	Q>R		No	ClinGen ExAC
CA838233 rs774557073	425	L>R		No	ClinGen ExAC gnomAD
rs75241822 CA340217743	426	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762948803 CA838231	426	R>S		No	ClinGen ExAC gnomAD
CA838232 rs75241822	426	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA21962912 rs539917364	427	P>R		No	ClinGen gnomAD
CA340217738 rs1459624548	427	P>S		No	ClinGen TOPMed
rs201764440 CA838230	428	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1035742704 CA21962900	429	S>T		No	ClinGen Ensembl
rs187139037 CA838228	434	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs776354478 CA838227	435	S>N		No	ClinGen ExAC gnomAD
CA340217688 rs1174129516	436	T>A		No	ClinGen TOPMed gnomAD
rs770567992 CA838226	437	E>G		No	ClinGen ExAC gnomAD
CA21962894 rs868174473	437	E>K		No	ClinGen Ensembl
rs1406100731 CA340217660	438	D>E		No	ClinGen gnomAD
rs368315675 CA21959854	438	D>G		No	ClinGen ESP gnomAD
CA838212 rs775513110	441	D>N		No	ClinGen ExAC gnomAD
CA340217630 rs1487631391	443	F>L		No	ClinGen gnomAD
rs1487631391 CA340217629	443	F>V		No	ClinGen gnomAD
CA838211 rs563918640	444	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572799869 COSM910355 CA838210	444	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs572799869 CA340217620	444	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA838208 rs770619268	446	T>A		No	ClinGen ExAC gnomAD
CA838207 rs760290036	446	T>I		No	ClinGen ExAC gnomAD
rs371872994 CA21959781	450	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371872994 CA838205	450	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770184586 CA838202	452	G>R		No	ClinGen ExAC TOPMed gnomAD
CA21959758 rs1051586511	453	K>E		No	ClinGen TOPMed
rs1287940766 CA340217560	454	L>V		No	ClinGen TOPMed
CA340217545 rs1346788338	456	Y>F		No	ClinGen TOPMed gnomAD
CA340217540 rs1569672030	457	Q>K		No	ClinGen Ensembl
TCGA novel	461	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340217492 rs1210951043	464	G>R		No	ClinGen TOPMed
rs1477094184 COSM1602499 CA340217474	467	M>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs368477542 CA21959752	469	E>K		No	ClinGen ESP
CA21959751 rs200686175	470	P>S		No	ClinGen Ensembl
rs1206043662 CA340217436	472	S>I		No	ClinGen gnomAD
CA340217422 rs868655807	474	R>I		No	ClinGen TOPMed
CA21959743 rs868655807	474	R>K		No	ClinGen TOPMed
rs148745347 CA838197	475	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	476	F>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213299256 CA340217407	476	F>L		No	ClinGen TOPMed gnomAD
rs758514054 CA838196	477	D>E		No	ClinGen ExAC TOPMed gnomAD
rs979240766 CA21959737	478	S>Y		No	ClinGen Ensembl
rs148637456 CA838194	479	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs921863206 CA21959727	479	D>V		No	ClinGen Ensembl
rs1294733356 CA340217374	482	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA340217357 rs1200898292	484	Y>C		No	ClinGen gnomAD
rs1392681108 CA340217319	490	R>K		No	ClinGen TOPMed
CA340217311 rs1323723266	491	V>A		No	ClinGen gnomAD
CA21959702 rs966336055	491	V>I		No	ClinGen gnomAD

No associated diseases with O75071

1 regional properties for O75071

Type	Name	Position	InterPro Accession
domain	EF-hand domain	434 - 469	IPR002048

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BGQ6	Efcab14	EF-hand calcium-binding domain-containing protein 14	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKKRKELNAL	IGLAGDSRRK	KPKKGPSSHR	LLRTEPPDSD	SESSSEEEEE	FGVVGNRSRF
70	80	90	100	110	120
AKGDYLRCCK	ICYPLCGFVI	LAACVVACVG	LVWMQVALKE	DLDALKEKFR	TMESNQKSSF
130	140	150	160	170	180
QEIPKLNEEL	LSKQKQLEKI	ESGEMGLNKV	WINITEMNKQ	ISLLTSAVNH	LKANVKSAAD
190	200	210	220	230	240
LISLPTTVEG	LQKSVASIGN	TLNSVHLAVE	ALQKTVDEHK	KTMELLQSDM	NQHFLKETPG
250	260	270	280	290	300
SNQIIPSPSA	TSELDNKTHS	ENLKQDILYL	HNSLEEVNSA	LVGYQRQNDL	KLEGMNETVS
310	320	330	340	350	360
NLTQRVNLIE	SDVVAMSKVE	KKANLSFSMM	GDRSATLKRQ	SLDQVTNRTD	TVKIQSIKKE
370	380	390	400	410	420
DSSNSQVSKL	REKLQLISAL	TNKPESNRPP	ETADEEQVES	FTSKPSALPK	FSQFLGDPVE
430	440	450	460	470	480
KAAQLRPISL	PGVSSTEDLQ	DLFRKTGQDV	DGKLTYQEIW	TSLGSAMPEP	ESLRAFDSDG
490
DGRYSFLELR	VALGI