Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10159
Gene name	ATPase H+ transporting accessory protein 2
Gene symbol	ATP6AP2
Synonyms (NCBI Gene)	(P)RRAPT6M8-9ATP6IP2ATP6M8-9CDG2RELDF10HT028M8-9MRXEMRXSHMSTP009PRRRENRXMREXPDS
Chromosome	X
Chromosome location	Xp11.4
Summary	This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH h

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918521	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs397518480	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1057519331	T>A	Pathogenic	Intron variant

281

Show/Hide all (281)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019402	hsa-miR-148b-3p	Microarray	17612493
MIRT029627	hsa-miR-26b-5p	Microarray	19088304
MIRT036463	hsa-miR-1226-3p	CLASH	23622248
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT109893	hsa-miR-140-3p	Luciferase reporter assayWestern blot	26722475
MIRT109893	hsa-miR-140-3p	Luciferase reporter assayWestern blot	26722475
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT808444	hsa-miR-128	CLIP-seq
MIRT808445	hsa-miR-1284	CLIP-seq
MIRT808446	hsa-miR-1296	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808449	hsa-miR-2909	CLIP-seq
MIRT808450	hsa-miR-298	CLIP-seq
MIRT808451	hsa-miR-3065-5p	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT808453	hsa-miR-3158-3p	CLIP-seq
MIRT808454	hsa-miR-3678-3p	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT808456	hsa-miR-3909	CLIP-seq
MIRT808457	hsa-miR-3942-3p	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT808460	hsa-miR-4282	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT808463	hsa-miR-4446-3p	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT808466	hsa-miR-4654	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT808468	hsa-miR-4699-3p	CLIP-seq
MIRT808469	hsa-miR-4753-3p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808471	hsa-miR-4768-5p	CLIP-seq
MIRT808472	hsa-miR-4769-5p	CLIP-seq
MIRT808473	hsa-miR-4799-5p	CLIP-seq
MIRT808474	hsa-miR-495	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT808477	hsa-miR-505	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT808481	hsa-miR-548ac	CLIP-seq
MIRT808482	hsa-miR-548ae	CLIP-seq
MIRT808483	hsa-miR-548aj	CLIP-seq
MIRT808484	hsa-miR-548am	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT808486	hsa-miR-548d-3p	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT808488	hsa-miR-548x	CLIP-seq
MIRT808489	hsa-miR-548z	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT808493	hsa-miR-759	CLIP-seq
MIRT808446	hsa-miR-1296	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808449	hsa-miR-2909	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT808453	hsa-miR-3158-3p	CLIP-seq
MIRT1938806	hsa-miR-340	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808456	hsa-miR-3909	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808460	hsa-miR-4282	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT808463	hsa-miR-4446-3p	CLIP-seq
MIRT1938809	hsa-miR-448	CLIP-seq
MIRT1938810	hsa-miR-4495	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT1938813	hsa-miR-4728-3p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT1938815	hsa-miR-548a-5p	CLIP-seq
MIRT1938816	hsa-miR-548ab	CLIP-seq
MIRT1938817	hsa-miR-548ak	CLIP-seq
MIRT1938818	hsa-miR-548b-5p	CLIP-seq
MIRT1938819	hsa-miR-548c-5p	CLIP-seq
MIRT1938820	hsa-miR-548d-5p	CLIP-seq
MIRT1938821	hsa-miR-548h	CLIP-seq
MIRT1938822	hsa-miR-548i	CLIP-seq
MIRT1938823	hsa-miR-548j	CLIP-seq
MIRT1938824	hsa-miR-548k	CLIP-seq
MIRT1938825	hsa-miR-548l	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT1938826	hsa-miR-548w	CLIP-seq
MIRT1938827	hsa-miR-548y	CLIP-seq
MIRT1938828	hsa-miR-559	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT2177947	hsa-miR-133a	CLIP-seq
MIRT2177948	hsa-miR-133b	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808450	hsa-miR-298	CLIP-seq
MIRT2177949	hsa-miR-3074-3p	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT808454	hsa-miR-3678-3p	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT1938809	hsa-miR-448	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT2177956	hsa-miR-4694-3p	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808474	hsa-miR-495	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT2177959	hsa-miR-522	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT2177961	hsa-miR-668	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481458	hsa-miR-1179	CLIP-seq
MIRT2481459	hsa-miR-1206	CLIP-seq
MIRT2481460	hsa-miR-1266	CLIP-seq
MIRT2481461	hsa-miR-1290	CLIP-seq
MIRT2481462	hsa-miR-147	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT2481463	hsa-miR-2113	CLIP-seq
MIRT2481464	hsa-miR-300	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT2481465	hsa-miR-338-5p	CLIP-seq
MIRT2481466	hsa-miR-3613-5p	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT2481467	hsa-miR-376a	CLIP-seq
MIRT2481468	hsa-miR-376b	CLIP-seq
MIRT2481469	hsa-miR-381	CLIP-seq
MIRT2481470	hsa-miR-382	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT808457	hsa-miR-3942-3p	CLIP-seq
MIRT2481471	hsa-miR-4270	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT2481472	hsa-miR-4436b-5p	CLIP-seq
MIRT2481473	hsa-miR-4441	CLIP-seq
MIRT2481474	hsa-miR-4457	CLIP-seq
MIRT2481475	hsa-miR-4503	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT2481476	hsa-miR-4518	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT2481477	hsa-miR-4659a-3p	CLIP-seq
MIRT2481478	hsa-miR-4659b-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2481479	hsa-miR-4666-3p	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT808468	hsa-miR-4699-3p	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT1938813	hsa-miR-4728-3p	CLIP-seq
MIRT2481480	hsa-miR-4778-3p	CLIP-seq
MIRT808473	hsa-miR-4799-5p	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT2481481	hsa-miR-508-5p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT2481482	hsa-miR-520d-5p	CLIP-seq
MIRT2481483	hsa-miR-524-5p	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT2481484	hsa-miR-568	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481485	hsa-miR-599	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT808493	hsa-miR-759	CLIP-seq
MIRT2481486	hsa-miR-802	CLIP-seq
MIRT2481487	hsa-miR-889	CLIP-seq
MIRT2481460	hsa-miR-1266	CLIP-seq
MIRT2481461	hsa-miR-1290	CLIP-seq
MIRT2481462	hsa-miR-147	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT2481463	hsa-miR-2113	CLIP-seq
MIRT2481464	hsa-miR-300	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT2481465	hsa-miR-338-5p	CLIP-seq
MIRT2481466	hsa-miR-3613-5p	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT2481469	hsa-miR-381	CLIP-seq
MIRT2481470	hsa-miR-382	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT2481471	hsa-miR-4270	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT2481472	hsa-miR-4436b-5p	CLIP-seq
MIRT2481473	hsa-miR-4441	CLIP-seq
MIRT2481474	hsa-miR-4457	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT2481476	hsa-miR-4518	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT2481477	hsa-miR-4659a-3p	CLIP-seq
MIRT2481478	hsa-miR-4659b-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2481479	hsa-miR-4666-3p	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT2481480	hsa-miR-4778-3p	CLIP-seq
MIRT2481481	hsa-miR-508-5p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT2481484	hsa-miR-568	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481485	hsa-miR-599	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT2481486	hsa-miR-802	CLIP-seq
MIRT2481487	hsa-miR-889	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	ISS
GO:0000421	Component	Autophagosome membrane	IEA
GO:0002003	Process	Angiotensin maturation	IDA	12045255, 15746149
GO:0005515	Function	Protein binding	IPI	12045255, 20093472, 29127204, 30374053, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	29127204
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	29127204
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007042	Process	Lysosomal lumen acidification	IMP	32276428
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	12045255, 15746149
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	ISS
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0016020	Component	Membrane	IDA	33065002
GO:0016020	Component	Membrane	IEA
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IMP	29127204, 30985297
GO:0021626	Process	Central nervous system maturation	IEA
GO:0021626	Process	Central nervous system maturation	IMP	30985297
GO:0021903	Process	Rostrocaudal neural tube patterning	IMP	20093472
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IBA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	20093472
GO:0030424	Component	Axon	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0032914	Process	Positive regulation of transforming growth factor beta1 production	IDA	16374430
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043408	Process	Regulation of MAPK cascade	IDA	12045255, 15746149
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048069	Process	Eye pigmentation	IMP	20093472
GO:0048388	Process	Endosomal lumen acidification	NAS	32001091
GO:0051452	Process	Intracellular pH reduction	NAS	32001091
GO:0060323	Process	Head morphogenesis	IMP	20093472
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	30374053
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902600	Process	Proton transmembrane transport	NAS	33065002

MIM	HGNC	e!Ensembl
300556	18305	ENSG00000182220

O75787

Protein name

Renin receptor (ATPase H(+)-transporting lysosomal accessory protein 2) (ATPase H(+)-transporting lysosomal-interacting protein 2) (ER-localized type I transmembrane adapter) (Embryonic liver differentiation factor 10) (N14F) (Renin/prorenin receptor) (Va

Protein function

Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, Pub

PDB

3LBS , 3LC8 , 6WLW , 6WM2 , 6WM3 , 6WM4 , 7U4T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07850	Renin_r	254 → 350	Renin receptor-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in

Sequence

MAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKEDLSW
PGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEE
TPVVLQLAPSEERVYMVGKANSVFEDLSVTLRQLRNRLFQENSVLSSLPLNSLSRNNEVD
LLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDASKIL
VDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYN
FEYSVVFNMVLWIMIALALAVIITSYNIWNMDPGYDSIIYRMTNQKIRMD

Sequence length

350

Interactions

View interactions

	KEGG		Reactome
	Renin-angiotensin system		Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation

193

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorder of glycosylation, type IIr	Pathogenic	rs1926621737	RCV001078440
Syndromic X-linked intellectual disability Hedera type	Likely pathogenic; Pathogenic	rs2146543631, rs121918521, rs1926795050	RCV002272782 RCV000011548 RCV001078442
X-linked parkinsonism-spasticity syndrome	Pathogenic	rs397518480	RCV000074407

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ATP6AP2-related disorder	Uncertain significance; Benign; Likely benign	rs866274169, rs1450455949, rs190477001, rs759094089, rs2518966944, rs372993268	RCV006262007 RCV002471219 RCV004542933 RCV006261955 RCV004539056 RCV004538225
History of neurodevelopmental disorder	Benign; Likely benign	rs34217273, rs150392503	RCV000720952 RCV000721048
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs138952430	RCV005903198
See cases	Uncertain significance	rs2146543649	RCV002252462
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance	rs764547484, rs138150013	RCV005934782 RCV005913584

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33020972
Anophthalmia with pulmonary hypoplasia	Associate	25747895
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	25503726
Breast Neoplasms	Associate	24759179, 35401936, 37993606
Bronchiolitis	Associate	19386802
Carcinogenesis	Associate	23469216, 25747895
Carcinoma Pancreatic Ductal	Associate	33820913
Carcinoma Renal Cell	Associate	33916968
Cardio Renal Syndrome	Associate	23469216
Cardiovascular Diseases	Associate	23469216
Conversion Disorder	Associate	32469890
Diabetic Nephropathies	Associate	35885938
Diabetic Retinopathy	Associate	23469216
Endometrial Neoplasms	Associate	35401936
Epilepsy	Associate	35779466
Epiretinal Membrane	Associate	28276504
Fallopian Tube Diseases	Associate	16859562
Fibrosis	Associate	25550784
Glioma	Associate	22802048, 35266851
Glomerulonephritis	Associate	25503726
Glomerulonephritis IGA	Associate	25550784
Granular Cell Tumor	Associate	30166553, 35175560
Graves Disease	Associate	29621332
Hyperglycemia	Associate	28840773
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	28465657
Hypertension	Associate	29351470, 31524252
Hyperthyroidism	Associate	29621332
Infertility Male	Associate	33809946
Inflammation	Associate	25503726, 29240802, 30551366
Insulin Resistance	Associate	37231878
Intellectual Disability	Associate	23871722, 35779466
Intestinal Pseudo Obstruction	Associate	37231878
Kidney Diseases	Associate	25550784, 27228084, 37231878
Lung Neoplasms	Associate	26722475
Mental Retardation X Linked with Epilepsy	Associate	23595882
Neoplasms	Associate	25747895, 34645770
Nervous System Diseases	Associate	35779466
Neurologic Manifestations	Associate	29751779
Obesity	Associate	37231878
Pancreatic Neoplasms	Associate	35401936
Parkinson Disease	Associate	23595882
Parkinson Disease Secondary	Associate	35779466
Pre Eclampsia	Associate	26574162
Preeclamptic toxemia	Associate	40187599
Spastic paraplegia 2 X linked	Associate	35779466
Squamous Cell Carcinoma of Head and Neck	Associate	33513805
Vascular Diseases	Associate	40187599

ATP6AP2 (ATPase H+ transporting accessory protein 2)