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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55362
Gene name	Transmembrane protein 63B
Gene symbol	TMEM63B
Synonyms (NCBI Gene)	C6orf110DEE118hTMEM63B
Chromosome	6
Chromosome location	6p21.1

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019193	hsa-miR-335-5p	Microarray	18185580
MIRT052285	hsa-let-7b-5p	CLASH	23622248
MIRT046406	hsa-miR-15b-5p	CLASH	23622248
MIRT043255	hsa-miR-324-5p	CLASH	23622248
MIRT038450	hsa-miR-296-3p	CLASH	23622248
MIRT1438308	hsa-miR-1275	CLIP-seq
MIRT1438309	hsa-miR-2278	CLIP-seq
MIRT1438310	hsa-miR-2467-5p	CLIP-seq
MIRT1438311	hsa-miR-3135b	CLIP-seq
MIRT1438312	hsa-miR-3175	CLIP-seq
MIRT1438313	hsa-miR-3612	CLIP-seq
MIRT1438314	hsa-miR-3652	CLIP-seq
MIRT1438315	hsa-miR-4430	CLIP-seq
MIRT1438316	hsa-miR-4436b-5p	CLIP-seq
MIRT1438317	hsa-miR-4443	CLIP-seq
MIRT1438318	hsa-miR-4492	CLIP-seq
MIRT1438319	hsa-miR-4498	CLIP-seq
MIRT1438320	hsa-miR-4519	CLIP-seq
MIRT1438321	hsa-miR-4525	CLIP-seq
MIRT1438322	hsa-miR-4665-5p	CLIP-seq
MIRT1438323	hsa-miR-4688	CLIP-seq
MIRT1438324	hsa-miR-4723-5p	CLIP-seq
MIRT1438325	hsa-miR-4733-3p	CLIP-seq
MIRT1438326	hsa-miR-625	CLIP-seq
MIRT1438327	hsa-miR-650	CLIP-seq
MIRT1438328	hsa-miR-762	CLIP-seq
MIRT1438329	hsa-miR-764	CLIP-seq
MIRT1438330	hsa-miR-767-5p	CLIP-seq
MIRT1438310	hsa-miR-2467-5p	CLIP-seq
MIRT1438311	hsa-miR-3135b	CLIP-seq
MIRT2352626	hsa-miR-3148	CLIP-seq
MIRT2352627	hsa-miR-3150a-3p	CLIP-seq
MIRT2352628	hsa-miR-3151	CLIP-seq
MIRT1438312	hsa-miR-3175	CLIP-seq
MIRT2352629	hsa-miR-342-5p	CLIP-seq
MIRT1438313	hsa-miR-3612	CLIP-seq
MIRT2352630	hsa-miR-4254	CLIP-seq
MIRT2352631	hsa-miR-4292	CLIP-seq
MIRT2352632	hsa-miR-4308	CLIP-seq
MIRT1438316	hsa-miR-4436b-5p	CLIP-seq
MIRT1438317	hsa-miR-4443	CLIP-seq
MIRT2352633	hsa-miR-4447	CLIP-seq
MIRT2352634	hsa-miR-4472	CLIP-seq
MIRT2352635	hsa-miR-4481	CLIP-seq
MIRT2352636	hsa-miR-4651	CLIP-seq
MIRT2352637	hsa-miR-4661-5p	CLIP-seq
MIRT2352638	hsa-miR-4664-5p	CLIP-seq
MIRT2352639	hsa-miR-4667-5p	CLIP-seq
MIRT2352640	hsa-miR-4700-5p	CLIP-seq
MIRT2352641	hsa-miR-4728-5p	CLIP-seq
MIRT2352642	hsa-miR-4731-5p	CLIP-seq
MIRT2352643	hsa-miR-4745-5p	CLIP-seq
MIRT2352644	hsa-miR-486-3p	CLIP-seq
MIRT2352645	hsa-miR-608	CLIP-seq
MIRT1438326	hsa-miR-625	CLIP-seq
MIRT1438327	hsa-miR-650	CLIP-seq
MIRT2352646	hsa-miR-670	CLIP-seq
MIRT2352647	hsa-miR-939	CLIP-seq
MIRT2461832	hsa-miR-361-3p	CLIP-seq
MIRT1438308	hsa-miR-1275	CLIP-seq
MIRT2646347	hsa-miR-4279	CLIP-seq
MIRT2646348	hsa-miR-4283	CLIP-seq
MIRT2646349	hsa-miR-4420	CLIP-seq
MIRT1438322	hsa-miR-4665-5p	CLIP-seq
MIRT1438308	hsa-miR-1275	CLIP-seq
MIRT2646347	hsa-miR-4279	CLIP-seq
MIRT2646348	hsa-miR-4283	CLIP-seq
MIRT2646349	hsa-miR-4420	CLIP-seq
MIRT1438322	hsa-miR-4665-5p	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005227	Function	Calcium-activated cation channel activity	IBA
GO:0005227	Function	Calcium-activated cation channel activity	IDA	37421948
GO:0005227	Function	Calcium-activated cation channel activity	IEA
GO:0005227	Function	Calcium-activated cation channel activity	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	39716028
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	37421948, 39217145, 39716028
GO:0005886	Component	Plasma membrane	IDA	37543036, 38127458
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IDA	37543036
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IEA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	ISS
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0017121	Process	Plasma membrane phospholipid scrambling	IEA
GO:0017128	Function	Phospholipid scramblase activity	IDA	39716028
GO:0017128	Function	Phospholipid scramblase activity	IEA
GO:0017128	Function	Phospholipid scramblase activity	IMP	39217145, 39424995
GO:0031901	Component	Early endosome membrane	IDA	38127458
GO:0031901	Component	Early endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0036335	Process	Intestinal stem cell homeostasis	IEA
GO:0036335	Process	Intestinal stem cell homeostasis	ISS
GO:0042756	Process	Drinking behavior	IEA
GO:0042756	Process	Drinking behavior	ISS
GO:0097233	Component	Alveolar lamellar body membrane	IDA	38127458
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120019	Function	Phosphatidylcholine transfer activity	IEA
GO:0120019	Function	Phosphatidylcholine transfer activity	ISS
GO:0140135	Function	Mechanosensitive monoatomic cation channel activity	IDA	38127458
GO:0140338	Function	Sphingomyelin transfer activity	IEA
GO:0140338	Function	Sphingomyelin transfer activity	ISS
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
619952	17735	ENSG00000137216

Q5T3F8

Protein name

Mechanosensitive cation channel TMEM63B (Transmembrane protein 63B) (hTMEM63B)

Protein function

Mechanosensitive cation channel with low conductance and high activation threshold (PubMed:37543036, PubMed:38127458). Osmosensitive cation channel preferentially activated by hypotonic stress (PubMed:37543036, PubMed:38127458). Also acts as a p

PDB

8EHX , 8XW4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13967	RSN1_TM	103 → 226	Late exocytosis, associated with Golgi transport	Family
PF14703	PHM7_cyt	239 → 422	Cytosolic domain of 10TM putative phosphate transporter	Domain
PF02714	RSN1_7TM	433 → 706	Calcium-dependent channel, 7TM region, putative phosphate	Family

Sequence

MLPFLLATLGTTALNNSNPKDYCYSARIRSTVLQGLPFGGVPTVLALDFMCFLALLFLFS
ILRKVAWDYGRLALVTDADRLRRQERDRVEQEYVASAMHGDSHDRYERLTSVSSSVDFDQ
RDNGFCSWLTAIFRIKDDEIRDKCGGDAVHYLSFQRHIIGLLVVVGVLSVGIVLPVNFSG
DLLENNAYSFGRTTIANLKSGNNLLWLHTSFAFLYLLLTVYSMRRHTSKMRYKEDDLVKR
TLFINGISKYAESEKIKKHFEEAYPNCTVLEARPCYNVARLMFLDAERKKAERGKLYFTN
LQSKENVPTMINPKPCGHLCCCVVRGCEQVEAIEYYTKLEQKLKEDYKREKEKVNEKPLG
MAFVTFHNETITAIILKDFNVCKCQGCTCRGEPRPSSCSESLHISNWTVSYAPDPQNIYW
EHLSIRGFIWWLRCLVINVVLFILLFFLTTPAIIITTMDKFNVTKPVEYLNNPIITQFFP
TLLLWCFSALLPTIVYYSAFFEAHWTRSGENRTTMHKCYTFLIFMVLLLPSLGLSSLDLF
FRWLFDKKFLAEAAIRFECVFLPDNGAFFVNYVIASAFIGNAMDLLRIPGLLMYMIRLCL
ARSAAERRNVKRHQAYEFQFGAAYAWMMCVFTVVMTYSITCPIIVPFGLMYMLLKHLVDR
YNLYYAYLPAKLDKKIHSGAVNQVVAAPILCLFWLLFFSTMRTGFLAPTSMFTFVVLVIT
IVICLCHVCFGHFKYLSAHNYKIEHTETDTVDPRSNGRPPTAAAVPKSAKYIAQVLQDSE
VDGDGDGAPGSSGDEPPSSSSQDEELLMPPDALTDTDFQSCEDSLIENEIHQ

Sequence length

832

Interactions

View interactions

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy 118	Likely pathogenic; Pathogenic	rs1420636219	RCV005435114	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare epilepsy	Likely pathogenic; Pathogenic	rs1420636219	RCV004334096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM63B-associated disorder	Likely pathogenic; Pathogenic	rs1420636219	RCV003448496	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

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.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM63B-related Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes Mellitus	Diabetes mellitus	Pubtator	32075680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	23037145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31243992		★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM63B (transmembrane protein 63B)