AiPD: Autoinhibited Protein Database

P40123

Gene name	CAP2
Protein name	Adenylyl cyclase-associated protein 2
Names	CAP 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10486
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (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 P40123

Entry ID	Method	Resolution	Chain	Position	Source
AF-P40123-F1	Predicted				AlphaFoldDB

364 variants for P40123

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1208356665 CA362876318 COSM1076247	2	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1257129641 CA362876335	4	M>T		No	ClinGen TOPMed gnomAD
CA3646095 rs746291830	4	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1199266650 CA362876370	9	E>V		No	ClinGen gnomAD
rs573390740 CA3646097	12	E>K		No	ClinGen ExAC gnomAD
CA362876392 rs1051374930	13	R>*		No	ClinGen TOPMed
rs1051374930 CA135439580	13	R>G		No	ClinGen TOPMed
rs201044058 CA3646098	13	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771633981 CA3646099	15	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1247309 rs367682004 CA3646101	17	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1442371 rs141863829 CA3646103	17	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs141863829 CA3646102	17	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362876423 rs1186366114	19	E>Q		No	ClinGen TOPMed
CA3646104 rs759438660	20	S>A		No	ClinGen ExAC gnomAD
CA3646106 rs764904918 COSM1076249	20	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3646105 rs764904918	20	S>W		No	ClinGen ExAC TOPMed gnomAD
rs894062645 CA135439582	25	S>Y		No	ClinGen TOPMed gnomAD
CA362876468 rs1397189666	26	H>L		No	ClinGen Ensembl
CA362876490 rs1267501396	30	G>R		No	ClinGen gnomAD
rs750613178 CA3646112	32	C>Y		No	ClinGen ExAC gnomAD
CA362876511 CA3646114 rs145770840	33	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3646116 rs755371607	34	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3646117 rs139953018	36	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs746572986 CA3646118	37	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746572986 CA362876536	37	G>S		No	ClinGen ExAC gnomAD
rs768457301 CA3646119	39	I>T		No	ClinGen ExAC gnomAD
rs779627920 CA3646136	42	V>M		No	ClinGen ExAC TOPMed gnomAD
CA362876921 rs1479032296	43	A>V		No	ClinGen gnomAD
CA362876925 rs1381986204	44	P>R		No	ClinGen TOPMed
CA3646137 rs748631395	44	P>T		No	ClinGen ExAC TOPMed gnomAD
CA362876934 rs780812899	46	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3646139 COSM1199505 rs780812899	46	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA135440162 rs1021491167	48	A>G		No	ClinGen TOPMed
CA362876959 rs1369183259	50	D>N		No	ClinGen gnomAD
COSM1329202 rs200233388 CA3646142	53	M>I	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3646141 rs769276626	53	M>L		No	ClinGen ExAC gnomAD
CA362876997 rs1349321705	55	S>C		No	ClinGen TOPMed
CA362876998 rs1296636463	55	S>N		No	ClinGen gnomAD
rs749106163 CA3646143	56	M>T		No	ClinGen ExAC gnomAD
CA362877017 rs1219433817	58	A>T		No	ClinGen TOPMed gnomAD
CA3646145 rs774322820	59	E>K		No	ClinGen ExAC TOPMed gnomAD
CA362877031 rs1581507857	60	F>V		No	ClinGen Ensembl
rs1302512384 CA362877069	65	R>G		No	ClinGen TOPMed gnomAD
rs1316900799 CA362877092	68	A>S		No	ClinGen gnomAD
CA3646147 rs772168818	71	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3646148 rs772168818	71	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3646150 rs766565075	73	T>I		No	ClinGen ExAC gnomAD
CA362877125 rs766565075	73	T>N		No	ClinGen ExAC gnomAD
CA362807051 rs1322221745	78	V>L		No	ClinGen TOPMed
TCGA novel	79	H>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3646171 COSM1076257 rs765705086	80	S>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA362807149 rs1283359111	83	Q>*		No	ClinGen TOPMed
CA362807191 rs1221810154	85	Q>R		No	ClinGen TOPMed
rs146348579 CA3646173	87	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA362807228 rs1418469640	87	A>V		No	ClinGen gnomAD
CA3646174 rs536085484	91	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536085484 CA134890248	91	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362807267 rs1403812303	92	A>T		No	ClinGen TOPMed
TCGA novel	93	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781381526 CA3646175	95	Y>*		No	ClinGen ExAC gnomAD
CA362807313 rs1561792503	95	Y>C		No	ClinGen Ensembl
TCGA novel	95	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561792509 CA362807334	96	Q>R		No	ClinGen Ensembl
rs755630870 CA3646177	97	Q>E		No	ClinGen ExAC gnomAD
rs779569230 CA3646178	97	Q>P		No	ClinGen ExAC gnomAD
CA134890272 rs868428982	98	P>A		No	ClinGen TOPMed gnomAD
rs868428982 CA134890274	98	P>S		No	ClinGen TOPMed gnomAD
CA362807378 rs1459930415	99	H>R		No	ClinGen TOPMed
rs754558500 CA3646180	100	E>K		No	ClinGen ExAC TOPMed gnomAD
CA362807392 rs754558500	100	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA362813464 rs139706381	102	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs779944204 CA3646215	103	V>M		No	ClinGen ExAC TOPMed gnomAD
CA362813480 rs1173374572	104	A>P		No	ClinGen TOPMed
COSM309843 rs759083931 CA3646216	105	A>T	lung Variant assessed as Somatic; 9.24e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs374923914 CA3646217	106	L>P		No	ClinGen ESP ExAC gnomAD
rs897223630 CA134922577	109	P>L		No	ClinGen Ensembl
rs1422937566 CA362813560	110	I>M		No	ClinGen gnomAD
rs752365578 CA3646218	110	I>V		No	ClinGen ExAC gnomAD
CA3646219 rs368723417	111	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs368723417 CA362813573	111	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA362813583 rs1480197406	112	E>G		No	ClinGen gnomAD
TCGA novel	112	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3646221 rs751433253	113	K>M		No	ClinGen ExAC gnomAD
CA362813600 rs1179869304	114	I>M		No	ClinGen gnomAD
CA362813656 rs1253892258	122	E>A		No	ClinGen gnomAD
CA134922605 rs527951231	123	R>G		No	ClinGen Ensembl
TCGA novel	124	N>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3646222 rs371116984	124	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA362813677 rs1195287566	125	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3646223 rs143260592	125	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs938096891 CA134922627	126	G>E		No	ClinGen TOPMed
CA362813697 rs1316080849	127	S>N		No	ClinGen TOPMed
rs756287106 CA3646225	129	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1235595571 CA362813789	132	H>R		No	ClinGen gnomAD
rs200559179 CA3646227 COSM1076259	134	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA362813824 rs1285194437	135	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3646230 rs748611415 COSM159732	136	V>I	Variant assessed as Somatic; 0.0 impact. urinary_tract endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3646232 rs200521747	138	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3646233 rs148396647	139	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581579492 CA362813946	143	L>F		No	ClinGen Ensembl
TCGA novel	144	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA134922720 rs866102542	145	W>*		No	ClinGen Ensembl
TCGA novel	145	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	147	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	148	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762359662 CA3646236	148	V>A		No	ClinGen ExAC TOPMed gnomAD
CA362814021 rs762359662	148	V>G		No	ClinGen ExAC TOPMed gnomAD
rs897040191 CA134922722	148	V>L		No	ClinGen TOPMed gnomAD
CA362814115 rs1299057295	149	S>F		No	ClinGen TOPMed
rs1197424365 CA362814138	151	K>R		No	ClinGen gnomAD
rs778055994 CA134923021	153	G>R		No	ClinGen Ensembl
CA362814181 rs1441330245	154	P>L		No	ClinGen TOPMed gnomAD
CA362814195 rs1185035880	155	Y>C		No	ClinGen gnomAD
rs1051146814 CA134923022	156	V>L		No	ClinGen Ensembl
rs766490475 CA3646263	157	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3646266 rs778806530	162	A>T		No	ClinGen ExAC gnomAD
rs1422843204 CA362814311	163	A>D		No	ClinGen TOPMed
CA362814308 rs1415024940	163	A>T		No	ClinGen TOPMed
CA362814327 rs1463986979	164	T>I		No	ClinGen gnomAD
CA134923053 rs201738681	168	N>D		No	ClinGen 1000Genomes
CA362814391 rs1168362490	169	R>G		No	ClinGen TOPMed
TCGA novel	169	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142527859 CA3646267	170	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA362814503 rs1473506481	176	H>Y		No	ClinGen gnomAD
rs755478362 CA3646286	180	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM347328 rs576260321 CA3646287	180	R>H	lung urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs576260321 CA362815479	180	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA134927404 rs1013334096	181	H>R		No	ClinGen TOPMed gnomAD
CA362815489 rs1455466724	182	V>L		No	ClinGen TOPMed
rs758471826 CA3646288	183	D>H		No	ClinGen ExAC gnomAD
CA3646290 rs751762454	188	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA3646291 rs757645288	191	I>L		No	ClinGen ExAC gnomAD
CA362815563 rs1175365552	192	W>*		No	ClinGen TOPMed
rs1360207620 CA362815588	196	Q>K		No	ClinGen TOPMed gnomAD
CA3646293 rs746391584	198	Y>C		No	ClinGen ExAC gnomAD
CA362815607 rs1194056739	198	Y>H		No	ClinGen TOPMed
rs756523139 CA3646294	199	I>V		No	ClinGen ExAC gnomAD
CA134927473 rs200156682	200	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	201	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3646295 rs780599061	203	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1487079775 CA362815718	204	T>I		No	ClinGen gnomAD
rs145067625 CA3646296	205	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773048011 CA3646298	208	T>K		No	ClinGen ExAC gnomAD
CA3646299 rs746610053	210	S>I		No	ClinGen ExAC TOPMed gnomAD
rs746610053 CA3646300	210	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	210	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1048823003 CA134899614	213	G>S		No	ClinGen TOPMed
CA362807716 rs1401865321	214	P>T		No	ClinGen TOPMed
rs745693966 CA3646321	215	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1301936383 CA362807727	216	A>T		No	ClinGen gnomAD
rs1343623502 CA362807744	218	T>I		No	ClinGen gnomAD
CA3646322 rs769611610	219	V>A		No	ClinGen ExAC gnomAD
CA134899628 rs759649009	219	V>I		No	ClinGen TOPMed gnomAD
rs1422077419 CA362807761	221	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3646325 rs565372069	225	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1477205344 CA362807785	225	L>P		No	ClinGen TOPMed
CA3646327 rs761941905	226	S>F		No	ClinGen ExAC gnomAD
rs774357637 CA3646326	226	S>T		No	ClinGen ExAC gnomAD
CA3646328 rs767700413	228	G>R		No	ClinGen ExAC TOPMed gnomAD
rs908979234 CA134899664	229	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362807815 rs1184759124	231	L>F		No	ClinGen gnomAD
rs1421530567 CA362807818	231	L>H		No	ClinGen gnomAD
CA3646330 rs140867998	233	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs766800946 CA3646331	235	P>A		No	ClinGen ExAC TOPMed gnomAD
rs201460559 CA3646332	237	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362807853 rs201460559	237	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3646333 rs755465988	238	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3646334 rs777431259	240	P>L		No	ClinGen ExAC gnomAD
CA134899719 rs1043705523	241	P>S		No	ClinGen TOPMed
CA362807873 rs1043705523	241	P>T		No	ClinGen TOPMed
rs1363302477 CA362807894	244	P>L		No	ClinGen gnomAD
CA362807891 rs200493371	244	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3646336 rs200493371	244	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362807900 rs1561821162	245	P>L		No	ClinGen Ensembl
rs147812744 CA3646339	248	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3646340 rs779761118	249	N>S		No	ClinGen ExAC gnomAD
rs1446252457 CA362807937	251	G>S		No	ClinGen gnomAD
CA362807952 rs1219304977	253	K>E		No	ClinGen TOPMed gnomAD
CA3646342 rs768638271 COSM231945	254	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768638271 CA362807959	254	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA134899767 rs141374232	256	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3646344 rs141374232	256	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3646345 rs370002478	256	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA362807988 rs1466610761 COSM1696949	258	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3646347 rs760910884	260	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766853393 CA3646348	260	R>H		No	ClinGen ExAC gnomAD
CA362808004 rs1398546870	261	S>L		No	ClinGen gnomAD
rs1169174716 CA362808000	261	S>P		No	ClinGen TOPMed
rs754193711 CA3646349	262	A>P		No	ClinGen ExAC TOPMed gnomAD
CA362808027 rs1236511460	265	A>T		No	ClinGen TOPMed
CA3646350 rs759961909	266	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3646351 rs765908757	269	Q>E		No	ClinGen ExAC gnomAD
CA362808057 rs1373346664	269	Q>H		No	ClinGen gnomAD
CA362808059 rs1235072444	270	G>R		No	ClinGen gnomAD
rs1248262910 CA362808073	272	A>T		No	ClinGen gnomAD
rs147060969 CA3646352	272	A>V		No	ClinGen ESP ExAC gnomAD
rs756743280 CA3646353	276	G>R		No	ClinGen ExAC TOPMed gnomAD
rs771332228 CA3646366	278	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3646367 rs776987110	278	R>H		No	ClinGen ExAC gnomAD
CA362808131 rs1270989794	279	H>L		No	ClinGen gnomAD
CA362808139 rs1214181158	280	V>A		No	ClinGen gnomAD
CA3646371 rs775895692	281	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3646370 rs775895692	281	T>P		No	ClinGen ExAC TOPMed gnomAD
CA3646373 rs750007759	282	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1581608036 CA362808155	283	D>G		No	ClinGen Ensembl
CA3646374 rs755617656	283	D>N		No	ClinGen ExAC gnomAD
rs988765440 CA134901551	285	K>M		No	ClinGen gnomAD
rs1203547873 CA362808191	285	K>N		No	ClinGen TOPMed
CA3646375 rs766062521	286	T>I		No	ClinGen ExAC TOPMed gnomAD
CA362808269 rs1462430680	292	L>V		No	ClinGen TOPMed gnomAD
rs372852769 CA3646380	293	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3646378 rs201321988	293	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3646381 rs777554386	294	A>S		No	ClinGen ExAC gnomAD
CA3646382 rs747149347	296	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA134901614 rs949573378 CA362808311	297	G>R		No	ClinGen TOPMed
CA3646383 rs771100929	299	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1338694460 CA362808344	300	Q>E		No	ClinGen TOPMed
rs762104891 CA134901622	302	P>S		No	ClinGen gnomAD
CA3646386 rs770291591	305	S>T		No	ClinGen ExAC gnomAD
rs1197066066 CA362808419	306	H>R		No	ClinGen gnomAD
rs1354024375 CA362808416	306	H>Y		No	ClinGen TOPMed
CA3646388 rs763214434	307	T>P		No	ClinGen ExAC TOPMed gnomAD
rs769274106 CA362808439	308	P>A		No	ClinGen ExAC gnomAD
CA3646389 rs769274106	308	P>S		No	ClinGen ExAC gnomAD
rs75982837 CA3646391	310	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3646392 VAR_033717 rs34620829	311	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753519113 CA3646393	312	S>T		No	ClinGen ExAC gnomAD
TCGA novel	313	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1666826 rs888404839 CA134901649	315	S>Y	eye Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3646394 VAR_033718 rs34206659	316	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1229707631 CA362808526	316	Y>H		No	ClinGen TOPMed gnomAD
CA362808537 rs1377099992	317	P>H		No	ClinGen gnomAD
CA3646396 rs752591956	317	P>S		No	ClinGen ExAC gnomAD
rs139692883 CA134901682	319	Q>E		No	ClinGen ESP TOPMed gnomAD
rs1324643643 CA362808580	321	H>Y		No	ClinGen gnomAD
rs751518035 CA3646399	322	A>G		No	ClinGen ExAC TOPMed gnomAD
CA362808592 rs1297703516	322	A>T		No	ClinGen gnomAD
rs751518035 CA362808598	322	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1561821889 CA362808602	323	P>A		No	ClinGen Ensembl
rs897736758 CA134901707	326	E>D		No	ClinGen TOPMed gnomAD
rs781356563 CA3646401	328	E>G		No	ClinGen ExAC TOPMed gnomAD
CA362808676 rs1581608234	329	G>E		No	ClinGen Ensembl
CA134901734 rs765313036	329	G>R		No	ClinGen gnomAD
rs1395707196 CA362809200	337	Q>E		No	ClinGen gnomAD
rs1418728091 CA362809218	338	E>D		No	ClinGen gnomAD
rs780374161 CA3646422	340	R>K		No	ClinGen ExAC gnomAD
rs780374161 CA3646421	340	R>T		No	ClinGen ExAC gnomAD
rs779180614 CA3646424	342	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3646423 rs769094419	342	D>N		No	ClinGen ExAC gnomAD
CA362809267 rs779180614	342	D>V		No	ClinGen ExAC TOPMed gnomAD
CA3646425 rs748667060	346	S>L		No	ClinGen ExAC
CA362809303 rs1244292118	346	S>P		No	ClinGen TOPMed
CA134903132 rs771189477	347	E>K		No	ClinGen Ensembl
CA134903153 rs776656785	347	E>V		No	ClinGen Ensembl
CA134903158 rs190478527	351	K>N		No	ClinGen 1000Genomes gnomAD
CA3646426 rs772625299	352	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs773700042 CA3646427	353	V>A		No	ClinGen ExAC gnomAD
rs745419382 CA3646428	355	Y>C		No	ClinGen ExAC gnomAD
CA362809422 rs1367685654	356	I>V		No	ClinGen gnomAD
CA3646429 rs769162149	358	K>E		No	ClinGen ExAC gnomAD
CA362809463 rs1285369064	359	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA362809474 rs775228317	359	C>W		No	ClinGen ExAC TOPMed gnomAD
CA3646431 rs762449193	360	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	361	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229433529 CA362809509	363	T>A		No	ClinGen gnomAD
TCGA novel	363	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362809537 rs1305730214	365	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3646432 rs763967309	365	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1216027006 CA362809563	366	I>M		No	ClinGen gnomAD
CA134903198 rs1050673883	368	G>R		No	ClinGen TOPMed gnomAD
CA362809613 rs1354406258	370	V>A		No	ClinGen gnomAD
CA134903203 rs889377628	372	S>P		No	ClinGen TOPMed
rs1175741419 CA362809655	373	I>T		No	ClinGen gnomAD
rs761701506 CA3646434	373	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3646435 rs767603383	374	I>V		No	ClinGen ExAC gnomAD
rs1256967912 CA362809753	378	C>G		No	ClinGen gnomAD
rs540097863 CA3646460	381	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs751099486 CA134903453	382	G>D		No	ClinGen Ensembl
rs752890966 CA3646462	382	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1213254338 CA362809810	383	L>Q		No	ClinGen gnomAD
rs1342941899 CA362809831	385	F>S		No	ClinGen gnomAD
CA134903460 rs957666194	387	N>D		No	ClinGen Ensembl
rs1210492630 CA362809858	387	N>S		No	ClinGen gnomAD
CA362809868 rs1486755707	388	V>L		No	ClinGen gnomAD
CA3646465 rs747567074	389	V>L		No	ClinGen ExAC gnomAD
rs757765135 CA3646466	392	V>A		No	ClinGen ExAC gnomAD
rs1340697878 CA362809909	392	V>M		No	ClinGen Ensembl
CA362809934 rs1184704381	394	V>M		No	ClinGen TOPMed gnomAD
CA362809964 rs781721921	396	N>S		No	ClinGen ExAC gnomAD
rs781721921 CA3646467	396	N>T		No	ClinGen ExAC gnomAD
CA3646468 rs748794176	397	S>P		No	ClinGen ExAC gnomAD
rs960911253 CA134903463	398	Q>*		No	ClinGen TOPMed gnomAD
rs1247691764 CA362809987	398	Q>R		No	ClinGen TOPMed
CA3646469 rs768259848	399	D>N		No	ClinGen ExAC gnomAD
CA362810043 rs1392901893	403	Q>E		No	ClinGen TOPMed gnomAD
rs1390054404 CA362810529	405	M>I		No	ClinGen gnomAD
rs1161773263 CA362810527	405	M>T		No	ClinGen gnomAD
rs1377656502 CA362810535	406	G>E		No	ClinGen TOPMed
CA362810540 rs1440745415	407	R>K		No	ClinGen TOPMed gnomAD
rs1440745415 CA362810541	407	R>T		No	ClinGen TOPMed gnomAD
CA3646490 rs747813434	410	T>A		No	ClinGen ExAC gnomAD
rs953850068 CA134910194	410	T>I		No	ClinGen Ensembl
CA3646491 rs771906318	411	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777475058 CA3646492	412	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777475058 CA362810570	412	S>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	413	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427423068 CA362810573	413	I>V		No	ClinGen TOPMed
rs1430193678 CA362810606	417	E>G		No	ClinGen TOPMed
CA362810602 rs1170907073	417	E>K		No	ClinGen TOPMed
rs1228122229 CA362810635	421	I>T		No	ClinGen TOPMed gnomAD
CA134910195 rs199825707	421	I>V		No	ClinGen Ensembl
CA3646493 rs746815840	425	E>G		No	ClinGen ExAC gnomAD
TCGA novel	426	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	426	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770736898 CA3646494	426	D>N		No	ClinGen ExAC gnomAD
CA3646495 rs776455230	426	D>V		No	ClinGen ExAC gnomAD
rs994634228 CA134910225	428	L>S		No	ClinGen TOPMed
rs1203204173 CA362810690	429	D>E		No	ClinGen TOPMed
CA3646497 rs769866064	429	D>V		No	ClinGen ExAC gnomAD
rs1252204920 CA565535277	430	C>*		No	ClinGen TOPMed
CA134910231 rs925705290	430	C>R		No	ClinGen Ensembl
rs770860765 CA3646500	433	V>L		No	ClinGen ExAC TOPMed gnomAD
CA134910253 rs770860765	433	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3646502 rs751783366	435	A>T	Variant assessed as Somatic; 9.244e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3646504 rs144868263	437	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA362810746 rs1163386936	438	S>T		No	ClinGen gnomAD
rs1328220992 CA362810767	440	M>I		No	ClinGen gnomAD
rs1405995552 CA362810763	440	M>T		No	ClinGen gnomAD
rs750973280 CA3646505	440	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3646506 rs148613443	442	I>T		No	ClinGen ESP ExAC gnomAD
CA134910265 rs963924545	442	I>V		No	ClinGen TOPMed
rs1411825956 CA362810781	443	L>F		No	ClinGen gnomAD
rs1290051521 CA362810804	446	Q>R		No	ClinGen gnomAD
rs757946538 CA3646509	449	D>G		No	ClinGen ExAC gnomAD
CA3646508 rs574300758	449	D>N		No	ClinGen 1000Genomes ExAC
CA3646522 rs773767973	456	P>S		No	ClinGen ExAC gnomAD
CA3646523 rs761113184	457	E>K		No	ClinGen ExAC gnomAD
rs374386454 CA3646524	458	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1041724470 CA134914138	459	F>I		No	ClinGen Ensembl
CA3646525 rs754371232	459	F>L		No	ClinGen ExAC gnomAD
CA134914139 rs991048746	459	F>S		No	ClinGen TOPMed
CA3646526 rs757869003	460	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs370673383 CA134914142	460	K>R		No	ClinGen Ensembl
CA362811472 rs1230225914	461	T>I		No	ClinGen gnomAD
rs1581621400 CA362811474	462	A>T		No	ClinGen Ensembl
TCGA novel	463	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377012684 CA362811509	464	D>E		No	ClinGen gnomAD
rs372747220 CA3646528	464	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3646529 rs756873512	465	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs932813436 CA134914172	466	S>C		No	ClinGen Ensembl
rs1258623150 CA362811522	466	S>P		No	ClinGen gnomAD
CA3646530 rs780820194	467	K>E		No	ClinGen ExAC gnomAD
rs896793378 CA134914185	467	K>R		No	ClinGen TOPMed gnomAD
CA362811547 rs1371456456	468	L>*		No	ClinGen gnomAD
rs779989724 CA3646534	471	E>D		No	ClinGen ExAC gnomAD
rs755881951 CA3646533	471	E>G		No	ClinGen ExAC gnomAD
rs1440867205 CA362811608	473	A>E		No	ClinGen TOPMed
rs930984187 CA134914232	475	I>F		No	ClinGen TOPMed gnomAD
rs749187595 CA3646535	475	I>S		No	ClinGen ExAC TOPMed gnomAD
rs749187595 CA362811637	475	I>T		No	ClinGen ExAC TOPMed gnomAD
CA134914237 rs1048100485	476	M>I		No	ClinGen TOPMed gnomAD
rs768626820 CA3646536	476	M>T		No	ClinGen ExAC gnomAD
rs191134548 CA3646537	477	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA134914251 rs766447538	478	A>S		No	ClinGen Ensembl

No associated diseases with P40123

2 regional properties for P40123

Type	Name	Position	InterPro Accession
domain	TonB/TolA, C-terminal	209 - 280	IPR006260
domain	TonB, C-terminal	207 - 279	IPR037682

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Peripheral membrane protein
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

3 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
adenylate cyclase binding	Binding to an adenylate cyclase.
identical protein binding	Binding to an identical protein or proteins.

7 GO annotations of biological process

Name	Definition
activation of adenylate cyclase activity	Any process that initiates the activity of the inactive enzyme adenylate cyclase.
cAMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
cell morphogenesis	The developmental process in which the size or shape of a cell is generated and organized.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
establishment or maintenance of cell polarity	Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
regulation of adenylate cyclase activity	Any process that modulates the frequency, rate or extent of adenylate cyclase activity.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q01518	CAP1	Adenylyl cyclase-associated protein 1	Homo sapiens (Human)	PR
Q9CYT6	Cap2	Adenylyl cyclase-associated protein 2	Mus musculus (Mouse)	PR
P52481	Cap2	Adenylyl cyclase-associated protein 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MANMQGLVER	LERAVSRLES	LSAESHRPPG	NCGEVNGVIA	GVAPSVEAFD	KLMDSMVAEF
70	80	90	100	110	120
LKNSRILAGD	VETHAEMVHS	AFQAQRAFLL	MASQYQQPHE	NDVAALLKPI	SEKIQEIQTF
130	140	150	160	170	180
RERNRGSNMF	NHLSAVSESI	PALGWIAVSP	KPGPYVKEMN	DAATFYTNRV	LKDYKHSDLR
190	200	210	220	230	240
HVDWVKSYLN	IWSELQAYIK	EHHTTGLTWS	KTGPVASTVS	AFSVLSSGPG	LPPPPPPLPP
250	260	270	280	290	300
PGPPPLFENE	GKKEESSPSR	SALFAQLNQG	EAITKGLRHV	TDDQKTYKNP	SLRAQGGQTQ
310	320	330	340	350	360
SPTKSHTPSP	TSPKSYPSQK	HAPVLELEGK	KWRVEYQEDR	NDLVISETEL	KQVAYIFKCE
370	380	390	400	410	420
KSTIQIKGKV	NSIIIDNCKK	LGLVFDNVVG	IVEVINSQDI	QIQVMGRVPT	ISINKTEGCH
430	440	450	460	470
IYLSEDALDC	EIVSAKSSEM	NILIPQDGDY	REFPIPEQFK	TAWDGSKLIT	EPAEIMA