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	9725
Gene name	Transmembrane protein 63A
Gene symbol	TMEM63A
Synonyms (NCBI Gene)	HLD19KIAA0792hTMEM63A
Chromosome	1
Chromosome location	1q42.12

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1576074651	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1576080546	A>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1576101665	C>T	Pathogenic	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant

202

Show/Hide all (202)

miRTarBase ID	miRNA	Experiments	Reference
MIRT550853	hsa-miR-4418	PAR-CLIP	21572407
MIRT550852	hsa-miR-509-3-5p	PAR-CLIP	21572407
MIRT550851	hsa-miR-509-5p	PAR-CLIP	21572407
MIRT550850	hsa-miR-217	PAR-CLIP	21572407
MIRT550848	hsa-miR-6807-3p	PAR-CLIP	21572407
MIRT550849	hsa-miR-596	PAR-CLIP	21572407
MIRT550847	hsa-miR-6732-5p	PAR-CLIP	21572407
MIRT550846	hsa-miR-1278	PAR-CLIP	21572407
MIRT550845	hsa-miR-1911-5p	PAR-CLIP	21572407
MIRT550844	hsa-miR-6752-5p	PAR-CLIP	21572407
MIRT550843	hsa-miR-6842-5p	PAR-CLIP	21572407
MIRT550842	hsa-miR-7110-5p	PAR-CLIP	21572407
MIRT456546	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT456545	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT456544	hsa-miR-4779	PAR-CLIP	23592263
MIRT456542	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT456543	hsa-miR-6757-5p	PAR-CLIP	23592263
MIRT456541	hsa-miR-4459	PAR-CLIP	23592263
MIRT456540	hsa-miR-665	PAR-CLIP	23592263
MIRT456539	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT456538	hsa-miR-1253	PAR-CLIP	23592263
MIRT456537	hsa-miR-4419a	PAR-CLIP	23592263
MIRT456536	hsa-miR-4510	PAR-CLIP	23592263
MIRT456535	hsa-miR-6127	PAR-CLIP	23592263
MIRT456534	hsa-miR-6129	PAR-CLIP	23592263
MIRT456533	hsa-miR-6130	PAR-CLIP	23592263
MIRT456532	hsa-miR-6133	PAR-CLIP	23592263
MIRT456531	hsa-miR-4434	PAR-CLIP	23592263
MIRT456530	hsa-miR-4516	PAR-CLIP	23592263
MIRT456529	hsa-miR-5703	PAR-CLIP	23592263
MIRT456528	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT456527	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT456526	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT456525	hsa-miR-2355-5p	PAR-CLIP	23592263
MIRT456524	hsa-miR-3202	PAR-CLIP	23592263
MIRT550853	hsa-miR-4418	PAR-CLIP	21572407
MIRT550852	hsa-miR-509-3-5p	PAR-CLIP	21572407
MIRT550851	hsa-miR-509-5p	PAR-CLIP	21572407
MIRT550850	hsa-miR-217	PAR-CLIP	21572407
MIRT550848	hsa-miR-6807-3p	PAR-CLIP	21572407
MIRT550849	hsa-miR-596	PAR-CLIP	21572407
MIRT550847	hsa-miR-6732-5p	PAR-CLIP	21572407
MIRT550846	hsa-miR-1278	PAR-CLIP	21572407
MIRT550845	hsa-miR-1911-5p	PAR-CLIP	21572407
MIRT550844	hsa-miR-6752-5p	PAR-CLIP	21572407
MIRT550843	hsa-miR-6842-5p	PAR-CLIP	21572407
MIRT550842	hsa-miR-7110-5p	PAR-CLIP	21572407
MIRT456546	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT456545	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT456544	hsa-miR-4779	PAR-CLIP	23592263
MIRT456542	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT456543	hsa-miR-6757-5p	PAR-CLIP	23592263
MIRT456541	hsa-miR-4459	PAR-CLIP	23592263
MIRT456540	hsa-miR-665	PAR-CLIP	23592263
MIRT456539	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT456538	hsa-miR-1253	PAR-CLIP	23592263
MIRT456537	hsa-miR-4419a	PAR-CLIP	23592263
MIRT456536	hsa-miR-4510	PAR-CLIP	23592263
MIRT456535	hsa-miR-6127	PAR-CLIP	23592263
MIRT456534	hsa-miR-6129	PAR-CLIP	23592263
MIRT456533	hsa-miR-6130	PAR-CLIP	23592263
MIRT456532	hsa-miR-6133	PAR-CLIP	23592263
MIRT456531	hsa-miR-4434	PAR-CLIP	23592263
MIRT456530	hsa-miR-4516	PAR-CLIP	23592263
MIRT456529	hsa-miR-5703	PAR-CLIP	23592263
MIRT456528	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT456527	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT456526	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT456525	hsa-miR-2355-5p	PAR-CLIP	23592263
MIRT456524	hsa-miR-3202	PAR-CLIP	23592263
MIRT1438273	hsa-miR-103a	CLIP-seq
MIRT1438274	hsa-miR-107	CLIP-seq
MIRT1438275	hsa-miR-1184	CLIP-seq
MIRT1438276	hsa-miR-1228	CLIP-seq
MIRT1438277	hsa-miR-125a-5p	CLIP-seq
MIRT1438278	hsa-miR-125b	CLIP-seq
MIRT1438279	hsa-miR-1269	CLIP-seq
MIRT1438280	hsa-miR-1269b	CLIP-seq
MIRT1438281	hsa-miR-1288	CLIP-seq
MIRT1438282	hsa-miR-1291	CLIP-seq
MIRT1438283	hsa-miR-151-5p	CLIP-seq
MIRT1438284	hsa-miR-151b	CLIP-seq
MIRT1438285	hsa-miR-183	CLIP-seq
MIRT1438286	hsa-miR-3661	CLIP-seq
MIRT1438287	hsa-miR-3663-3p	CLIP-seq
MIRT1438288	hsa-miR-3690	CLIP-seq
MIRT1438289	hsa-miR-378	CLIP-seq
MIRT1438290	hsa-miR-378b	CLIP-seq
MIRT1438291	hsa-miR-378c	CLIP-seq
MIRT1438292	hsa-miR-378d	CLIP-seq
MIRT1438293	hsa-miR-378e	CLIP-seq
MIRT1438294	hsa-miR-378f	CLIP-seq
MIRT1438295	hsa-miR-378h	CLIP-seq
MIRT1438296	hsa-miR-378i	CLIP-seq
MIRT1438297	hsa-miR-422a	CLIP-seq
MIRT1438298	hsa-miR-4319	CLIP-seq
MIRT1438299	hsa-miR-4515	CLIP-seq
MIRT1438300	hsa-miR-4695-5p	CLIP-seq
MIRT1438301	hsa-miR-4740-5p	CLIP-seq
MIRT1438302	hsa-miR-4753-3p	CLIP-seq
MIRT1438303	hsa-miR-619	CLIP-seq
MIRT1438304	hsa-miR-631	CLIP-seq
MIRT1438305	hsa-miR-659	CLIP-seq
MIRT1438306	hsa-miR-767-5p	CLIP-seq
MIRT1438307	hsa-miR-9	CLIP-seq
MIRT1554978	hsa-miR-1202	CLIP-seq
MIRT1554979	hsa-miR-1287	CLIP-seq
MIRT1554980	hsa-miR-3194-5p	CLIP-seq
MIRT1554981	hsa-miR-3972	CLIP-seq
MIRT1554982	hsa-miR-4270	CLIP-seq
MIRT1554983	hsa-miR-4300	CLIP-seq
MIRT1554984	hsa-miR-4441	CLIP-seq
MIRT1554985	hsa-miR-4487	CLIP-seq
MIRT1554986	hsa-miR-920	CLIP-seq
MIRT2131308	hsa-miR-1207-5p	CLIP-seq
MIRT2131309	hsa-miR-1262	CLIP-seq
MIRT1554979	hsa-miR-1287	CLIP-seq
MIRT2131310	hsa-miR-1972	CLIP-seq
MIRT2131311	hsa-miR-2467-3p	CLIP-seq
MIRT2131312	hsa-miR-361-3p	CLIP-seq
MIRT2131313	hsa-miR-3912	CLIP-seq
MIRT2131314	hsa-miR-3918	CLIP-seq
MIRT2131315	hsa-miR-4269	CLIP-seq
MIRT1554982	hsa-miR-4270	CLIP-seq
MIRT1554983	hsa-miR-4300	CLIP-seq
MIRT2131316	hsa-miR-432	CLIP-seq
MIRT1554984	hsa-miR-4441	CLIP-seq
MIRT2131317	hsa-miR-4453	CLIP-seq
MIRT2131318	hsa-miR-4468	CLIP-seq
MIRT1554985	hsa-miR-4487	CLIP-seq
MIRT2131319	hsa-miR-4512	CLIP-seq
MIRT2131320	hsa-miR-4514	CLIP-seq
MIRT2131321	hsa-miR-4538	CLIP-seq
MIRT2131322	hsa-miR-4692	CLIP-seq
MIRT2131323	hsa-miR-4701-3p	CLIP-seq
MIRT2131324	hsa-miR-4738-3p	CLIP-seq
MIRT2131325	hsa-miR-4763-3p	CLIP-seq
MIRT2131326	hsa-miR-4797-5p	CLIP-seq
MIRT1554986	hsa-miR-920	CLIP-seq
MIRT2131327	hsa-miR-940	CLIP-seq
MIRT1438273	hsa-miR-103a	CLIP-seq
MIRT1438274	hsa-miR-107	CLIP-seq
MIRT1438275	hsa-miR-1184	CLIP-seq
MIRT2352591	hsa-miR-1207-3p	CLIP-seq
MIRT2131308	hsa-miR-1207-5p	CLIP-seq
MIRT2352592	hsa-miR-1254	CLIP-seq
MIRT2352593	hsa-miR-1255a	CLIP-seq
MIRT2352594	hsa-miR-1255b	CLIP-seq
MIRT1438279	hsa-miR-1269	CLIP-seq
MIRT1438280	hsa-miR-1269b	CLIP-seq
MIRT1554979	hsa-miR-1287	CLIP-seq
MIRT1438281	hsa-miR-1288	CLIP-seq
MIRT2352595	hsa-miR-150	CLIP-seq
MIRT2352596	hsa-miR-193a-3p	CLIP-seq
MIRT2352597	hsa-miR-193b	CLIP-seq
MIRT2131311	hsa-miR-2467-3p	CLIP-seq
MIRT2352598	hsa-miR-3116	CLIP-seq
MIRT2352599	hsa-miR-3126-5p	CLIP-seq
MIRT2352600	hsa-miR-3622a-5p	CLIP-seq
MIRT2352601	hsa-miR-3652	CLIP-seq
MIRT1438286	hsa-miR-3661	CLIP-seq
MIRT1438288	hsa-miR-3690	CLIP-seq
MIRT2352602	hsa-miR-370	CLIP-seq
MIRT1438289	hsa-miR-378	CLIP-seq
MIRT1438290	hsa-miR-378b	CLIP-seq
MIRT1438291	hsa-miR-378c	CLIP-seq
MIRT1438292	hsa-miR-378d	CLIP-seq
MIRT1438293	hsa-miR-378e	CLIP-seq
MIRT1438294	hsa-miR-378f	CLIP-seq
MIRT1438295	hsa-miR-378h	CLIP-seq
MIRT1438296	hsa-miR-378i	CLIP-seq
MIRT1438297	hsa-miR-422a	CLIP-seq
MIRT2352603	hsa-miR-4252	CLIP-seq
MIRT2352604	hsa-miR-4254	CLIP-seq
MIRT2352605	hsa-miR-4293	CLIP-seq
MIRT2352606	hsa-miR-4430	CLIP-seq
MIRT1438299	hsa-miR-4515	CLIP-seq
MIRT2352607	hsa-miR-4667-3p	CLIP-seq
MIRT2352608	hsa-miR-4667-5p	CLIP-seq
MIRT2352609	hsa-miR-4690-3p	CLIP-seq
MIRT2352610	hsa-miR-4700-5p	CLIP-seq
MIRT2352611	hsa-miR-4701-5p	CLIP-seq
MIRT2352612	hsa-miR-4709-3p	CLIP-seq
MIRT2352613	hsa-miR-4717-5p	CLIP-seq
MIRT2352614	hsa-miR-4722-5p	CLIP-seq
MIRT2352615	hsa-miR-4731-5p	CLIP-seq
MIRT2352616	hsa-miR-4736	CLIP-seq
MIRT1438301	hsa-miR-4740-5p	CLIP-seq
MIRT2352617	hsa-miR-4749-3p	CLIP-seq
MIRT1438302	hsa-miR-4753-3p	CLIP-seq
MIRT2131325	hsa-miR-4763-3p	CLIP-seq
MIRT2352618	hsa-miR-4764-5p	CLIP-seq
MIRT2131326	hsa-miR-4797-5p	CLIP-seq
MIRT2352619	hsa-miR-485-5p	CLIP-seq
MIRT2352620	hsa-miR-502-5p	CLIP-seq
MIRT2352621	hsa-miR-512-5p	CLIP-seq
MIRT2352622	hsa-miR-564	CLIP-seq
MIRT2352623	hsa-miR-576-3p	CLIP-seq
MIRT2352624	hsa-miR-588	CLIP-seq
MIRT1438303	hsa-miR-619	CLIP-seq
MIRT1438304	hsa-miR-631	CLIP-seq
MIRT2352625	hsa-miR-649	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005227	Function	Calcium-activated cation channel activity	IBA
GO:0005227	Function	Calcium-activated cation channel activity	IEA
GO:0005515	Function	Protein binding	IPI	28870237
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	20957757, 38127458, 39716028
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	37543036
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	ISS
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IDA	30382938, 37543036
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IEA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IMP	31587869
GO:0016020	Component	Membrane	IEA
GO:0017128	Function	Phospholipid scramblase activity	IDA	39716028
GO:0031901	Component	Early endosome membrane	IDA	38127458
GO:0031901	Component	Early endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035579	Component	Specific granule membrane	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0160069	Process	Surfactant secretion	IEA
GO:0160069	Process	Surfactant secretion	ISS
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	IEA
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	ISS

MIM	HGNC	e!Ensembl
618685	29118	ENSG00000196187

O94886

Protein name

Mechanosensitive cation channel TMEM63A (Transmembrane protein 63A) (hTMEM63A)

Protein function

Mechanosensitive cation channel with low conductance and high activation threshold (PubMed:30382938, PubMed:31587869, PubMed:37543036). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Acts as a regulator

PDB

8EHW , 8GRS , 8WUA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13967	RSN1_TM	50 → 214	Late exocytosis, associated with Golgi transport	Family
PF14703	PHM7_cyt	227 → 410	Cytosolic domain of 10TM putative phosphate transporter	Domain
PF02714	RSN1_7TM	421 → 693	Calcium-dependent channel, 7TM region, putative phosphate	Family

Sequence

MMDSPFLELWQSKAVSIREQLGLGDRPNDSYCYNSAKNSTVLQGVTFGGIPTVLLIDVSC
FLFLILVFSIIRRRFWDYGRIALVSEADSESRFQRLSSTSSSGQQDFENELGCCPWLTAI
FRLHDDQILEWCGEDAIHYLSFQRHIIFLLVVVSFLSLCVILPVNLSGDLLDKDPYSFGR
TTIANLQTDNDLLWLHTIFAVIYLFLTVGFMRHHTQSIKYKEENLVRRTLFITGLPRDAR
KETVESHFRDAYPTCEVVDVQLCYNVAKLIYLCKEKKKTEKSLTYYTNLQVKTGQRTLIN
PKPCGQFCCCEVLGCEWEDAISYYTRMKDRLLERITEEERHVQDQPLGMAFVTFQEKSMA
TYILKDFNACKCQSLQCKGEPQPSSHSRELYTSKWTVTFAADPEDICWKNLSIQGLRWWL
QWLGINFTLFLGLFFLTTPSIILSTMDKFNVTKPIHALNNPIISQFFPTLLLWSFSALLP
SIVYYSTLLESHWTKSGENQIMMTKVYIFLIFMVLILPSLGLTSLDFFFRWLFDKTSSEA
SIRLECVFLPDQGAFFVNYVIASAFIGNGMELLRLPGLILYTFRMIMAKTAADRRNVKQN
QAFQYEFGAMYAWMLCVFTVIVAYSITCPIIAPFGLIYILLKHMVDRHNLYFVYLPAKLE
KGIHFAAVNQALAAPILCLFWLYFFSFLRLGMKAPATLFTFLVLLLTILVCLAHTCFGCF
KHLSPLNYKTEEPASDKGSEAEAHMPPPFTPYVPRILNGLASERTALSPQQQQQQTYGAI
HNISGTIPGQCLAQSATGSVAAAPQEA

Sequence length

807

Interactions

View interactions

	Reactome
			Neutrophil degranulation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leukodystrophy	Pathogenic; Likely pathogenic	rs1576101665, rs1576080546, rs1576074651	RCV000850174 RCV000850175 RCV000850176	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy, hypomyelinating, 19, transient infantile	Pathogenic; Likely pathogenic	rs2102825771, rs1576101665, rs1576080546, rs1576074651	RCV002271995 RCV000884702 RCV000884700 RCV000884698	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM63A-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Demyelinating Diseases	Demyelinating diseases	Pubtator	31587869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	31587869		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy Hypomyelinating 2	Hypomyelinating leukodystrophy	Pubtator	31587869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19111454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35920704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM63A (transmembrane protein 63A)