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	57156
Gene name	Transmembrane protein 63C
Gene symbol	TMEM63C
Synonyms (NCBI Gene)	C14orf171CSC1SPG87hTMEM63ChsCSC1
Chromosome	14
Chromosome location	14q24.3

208

Show/Hide all (208)

miRTarBase ID	miRNA	Experiments	Reference
MIRT490186	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT490185	hsa-miR-4508	PAR-CLIP	23592263
MIRT490184	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT490183	hsa-miR-6081	PAR-CLIP	23592263
MIRT490181	hsa-miR-765	PAR-CLIP	23592263
MIRT490182	hsa-miR-4505	PAR-CLIP	23592263
MIRT490180	hsa-miR-5787	PAR-CLIP	23592263
MIRT490179	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490178	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490177	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490176	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490175	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490174	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT490173	hsa-miR-6877-5p	PAR-CLIP	23592263
MIRT490171	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT490172	hsa-miR-4492	PAR-CLIP	23592263
MIRT490170	hsa-miR-4498	PAR-CLIP	23592263
MIRT490169	hsa-miR-5001-5p	PAR-CLIP	23592263
MIRT490168	hsa-miR-762	PAR-CLIP	23592263
MIRT490167	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT490166	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT490165	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT490164	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT490163	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT490162	hsa-miR-3689c	PAR-CLIP	23592263
MIRT490161	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT490160	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT490159	hsa-miR-4739	PAR-CLIP	23592263
MIRT734981	hsa-miR-564	Luciferase reporter assayWestern blottingqRT-PCR	33080601
MIRT490186	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT490185	hsa-miR-4508	PAR-CLIP	23592263
MIRT490184	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT490183	hsa-miR-6081	PAR-CLIP	23592263
MIRT490181	hsa-miR-765	PAR-CLIP	23592263
MIRT490182	hsa-miR-4505	PAR-CLIP	23592263
MIRT490180	hsa-miR-5787	PAR-CLIP	23592263
MIRT490179	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490178	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490177	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490176	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490175	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490174	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT490173	hsa-miR-6877-5p	PAR-CLIP	23592263
MIRT490171	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT490172	hsa-miR-4492	PAR-CLIP	23592263
MIRT490170	hsa-miR-4498	PAR-CLIP	23592263
MIRT490169	hsa-miR-5001-5p	PAR-CLIP	23592263
MIRT490168	hsa-miR-762	PAR-CLIP	23592263
MIRT490167	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT490166	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT490165	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT490164	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT490163	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT490162	hsa-miR-3689c	PAR-CLIP	23592263
MIRT490161	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT490160	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT490159	hsa-miR-4739	PAR-CLIP	23592263
MIRT1438331	hsa-miR-1205	CLIP-seq
MIRT1438332	hsa-miR-1207-5p	CLIP-seq
MIRT1438333	hsa-miR-1225-5p	CLIP-seq
MIRT1438334	hsa-miR-1227	CLIP-seq
MIRT1438335	hsa-miR-1265	CLIP-seq
MIRT1438336	hsa-miR-15a	CLIP-seq
MIRT1438337	hsa-miR-15b	CLIP-seq
MIRT1438338	hsa-miR-16	CLIP-seq
MIRT1438339	hsa-miR-1827	CLIP-seq
MIRT1438340	hsa-miR-1909	CLIP-seq
MIRT1438341	hsa-miR-193a-5p	CLIP-seq
MIRT1438342	hsa-miR-195	CLIP-seq
MIRT1438343	hsa-miR-1972	CLIP-seq
MIRT1438344	hsa-miR-1976	CLIP-seq
MIRT1438345	hsa-miR-198	CLIP-seq
MIRT1438346	hsa-miR-2392	CLIP-seq
MIRT1438347	hsa-miR-2467-3p	CLIP-seq
MIRT1438348	hsa-miR-298	CLIP-seq
MIRT1438349	hsa-miR-3132	CLIP-seq
MIRT1438350	hsa-miR-3151	CLIP-seq
MIRT1438351	hsa-miR-3179	CLIP-seq
MIRT1438352	hsa-miR-3192	CLIP-seq
MIRT1438353	hsa-miR-3202	CLIP-seq
MIRT1438354	hsa-miR-331-3p	CLIP-seq
MIRT1438355	hsa-miR-338-3p	CLIP-seq
MIRT1438356	hsa-miR-3607-5p	CLIP-seq
MIRT1438357	hsa-miR-3612	CLIP-seq
MIRT1438358	hsa-miR-3652	CLIP-seq
MIRT1438359	hsa-miR-3675-5p	CLIP-seq
MIRT1438360	hsa-miR-424	CLIP-seq
MIRT1438361	hsa-miR-4259	CLIP-seq
MIRT1438362	hsa-miR-4266	CLIP-seq
MIRT1438363	hsa-miR-4297	CLIP-seq
MIRT1438364	hsa-miR-4424	CLIP-seq
MIRT1438365	hsa-miR-4430	CLIP-seq
MIRT1438366	hsa-miR-4476	CLIP-seq
MIRT1438367	hsa-miR-4488	CLIP-seq
MIRT1438368	hsa-miR-4530	CLIP-seq
MIRT1438369	hsa-miR-4534	CLIP-seq
MIRT1438370	hsa-miR-455-5p	CLIP-seq
MIRT1438371	hsa-miR-4645-5p	CLIP-seq
MIRT1438372	hsa-miR-4646-5p	CLIP-seq
MIRT1438373	hsa-miR-4656	CLIP-seq
MIRT1438374	hsa-miR-4667-3p	CLIP-seq
MIRT1438375	hsa-miR-4673	CLIP-seq
MIRT1438376	hsa-miR-4682	CLIP-seq
MIRT1438377	hsa-miR-4695-5p	CLIP-seq
MIRT1438378	hsa-miR-4697-5p	CLIP-seq
MIRT1438379	hsa-miR-4701-5p	CLIP-seq
MIRT1438380	hsa-miR-4717-5p	CLIP-seq
MIRT1438381	hsa-miR-4722-3p	CLIP-seq
MIRT1438382	hsa-miR-4722-5p	CLIP-seq
MIRT1438383	hsa-miR-4731-5p	CLIP-seq
MIRT1438384	hsa-miR-4747-5p	CLIP-seq
MIRT1438385	hsa-miR-4753-3p	CLIP-seq
MIRT1438386	hsa-miR-4763-3p	CLIP-seq
MIRT1438387	hsa-miR-4768-3p	CLIP-seq
MIRT1438388	hsa-miR-4777-3p	CLIP-seq
MIRT1438389	hsa-miR-4779	CLIP-seq
MIRT1438390	hsa-miR-4787-5p	CLIP-seq
MIRT1438391	hsa-miR-4795-5p	CLIP-seq
MIRT1438392	hsa-miR-486-3p	CLIP-seq
MIRT1438393	hsa-miR-497	CLIP-seq
MIRT1438394	hsa-miR-545	CLIP-seq
MIRT1438395	hsa-miR-588	CLIP-seq
MIRT1438396	hsa-miR-591	CLIP-seq
MIRT1438397	hsa-miR-637	CLIP-seq
MIRT1438398	hsa-miR-650	CLIP-seq
MIRT1438399	hsa-miR-9	CLIP-seq
MIRT1438400	hsa-miR-922	CLIP-seq
MIRT1438401	hsa-miR-940	CLIP-seq
MIRT1438402	hsa-miR-942	CLIP-seq
MIRT1438332	hsa-miR-1207-5p	CLIP-seq
MIRT2131328	hsa-miR-133a	CLIP-seq
MIRT2131329	hsa-miR-133b	CLIP-seq
MIRT1438339	hsa-miR-1827	CLIP-seq
MIRT1438340	hsa-miR-1909	CLIP-seq
MIRT2131330	hsa-miR-1915	CLIP-seq
MIRT2131331	hsa-miR-296-5p	CLIP-seq
MIRT1438348	hsa-miR-298	CLIP-seq
MIRT1438352	hsa-miR-3192	CLIP-seq
MIRT1438357	hsa-miR-3612	CLIP-seq
MIRT2131332	hsa-miR-3665	CLIP-seq
MIRT2131333	hsa-miR-3714	CLIP-seq
MIRT2131334	hsa-miR-3922-5p	CLIP-seq
MIRT2131335	hsa-miR-4281	CLIP-seq
MIRT2131336	hsa-miR-4443	CLIP-seq
MIRT1438366	hsa-miR-4476	CLIP-seq
MIRT2131337	hsa-miR-4688	CLIP-seq
MIRT2131338	hsa-miR-4726-3p	CLIP-seq
MIRT2131339	hsa-miR-4736	CLIP-seq
MIRT1438386	hsa-miR-4763-3p	CLIP-seq
MIRT1438392	hsa-miR-486-3p	CLIP-seq
MIRT1438398	hsa-miR-650	CLIP-seq
MIRT1438401	hsa-miR-940	CLIP-seq
MIRT1438332	hsa-miR-1207-5p	CLIP-seq
MIRT1438335	hsa-miR-1265	CLIP-seq
MIRT2352648	hsa-miR-1291	CLIP-seq
MIRT1438345	hsa-miR-198	CLIP-seq
MIRT2352649	hsa-miR-2115	CLIP-seq
MIRT1438346	hsa-miR-2392	CLIP-seq
MIRT2352650	hsa-miR-3127-3p	CLIP-seq
MIRT1438350	hsa-miR-3151	CLIP-seq
MIRT1438352	hsa-miR-3192	CLIP-seq
MIRT2352651	hsa-miR-326	CLIP-seq
MIRT2352652	hsa-miR-330-5p	CLIP-seq
MIRT1438355	hsa-miR-338-3p	CLIP-seq
MIRT2352653	hsa-miR-34a	CLIP-seq
MIRT2352654	hsa-miR-34c-5p	CLIP-seq
MIRT2352655	hsa-miR-3657	CLIP-seq
MIRT1438359	hsa-miR-3675-5p	CLIP-seq
MIRT2352656	hsa-miR-3677-5p	CLIP-seq
MIRT2352657	hsa-miR-3679-3p	CLIP-seq
MIRT2352658	hsa-miR-384	CLIP-seq
MIRT2352659	hsa-miR-4254	CLIP-seq
MIRT2352660	hsa-miR-4292	CLIP-seq
MIRT2352661	hsa-miR-4300	CLIP-seq
MIRT2352662	hsa-miR-4308	CLIP-seq
MIRT2352663	hsa-miR-449a	CLIP-seq
MIRT2352664	hsa-miR-449b	CLIP-seq
MIRT1438368	hsa-miR-4530	CLIP-seq
MIRT2352665	hsa-miR-4638-3p	CLIP-seq
MIRT2352666	hsa-miR-4640-3p	CLIP-seq
MIRT2352667	hsa-miR-4641	CLIP-seq
MIRT2352668	hsa-miR-4654	CLIP-seq
MIRT2352669	hsa-miR-4669	CLIP-seq
MIRT1438379	hsa-miR-4701-5p	CLIP-seq
MIRT2131339	hsa-miR-4736	CLIP-seq
MIRT1438386	hsa-miR-4763-3p	CLIP-seq
MIRT2352670	hsa-miR-4769-5p	CLIP-seq
MIRT1438392	hsa-miR-486-3p	CLIP-seq
MIRT1438394	hsa-miR-545	CLIP-seq
MIRT2352671	hsa-miR-548s	CLIP-seq
MIRT1438395	hsa-miR-588	CLIP-seq
MIRT2352672	hsa-miR-624	CLIP-seq
MIRT1438397	hsa-miR-637	CLIP-seq
MIRT2352673	hsa-miR-885-3p	CLIP-seq
MIRT2352674	hsa-miR-920	CLIP-seq
MIRT1438401	hsa-miR-940	CLIP-seq
MIRT2352650	hsa-miR-3127-3p	CLIP-seq
MIRT2352657	hsa-miR-3679-3p	CLIP-seq
MIRT2352658	hsa-miR-384	CLIP-seq
MIRT2352659	hsa-miR-4254	CLIP-seq
MIRT2352665	hsa-miR-4638-3p	CLIP-seq
MIRT2461833	hsa-miR-1275	CLIP-seq
MIRT2461834	hsa-miR-1912	CLIP-seq
MIRT2461835	hsa-miR-4260	CLIP-seq
MIRT2461836	hsa-miR-4525	CLIP-seq
MIRT2461837	hsa-miR-4665-5p	CLIP-seq
MIRT2461838	hsa-miR-4723-5p	CLIP-seq
MIRT2461839	hsa-miR-625	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003094	Process	Glomerular filtration	ISS
GO:0005227	Function	Calcium-activated cation channel activity	IBA
GO:0005227	Function	Calcium-activated cation channel activity	IDA	24503647
GO:0005227	Function	Calcium-activated cation channel activity	IEA
GO:0005765	Component	Lysosomal membrane	IDA	39716028
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	39716028
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IDA	24503647
GO:0016020	Component	Membrane	IEA
GO:0017128	Function	Phospholipid scramblase activity	IDA	39716028
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	IEA
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	ISS

MIM	HGNC	e!Ensembl
619953	23787	ENSG00000165548

Q9P1W3

Protein name

Osmosensitive cation channel TMEM63C (Calcium permeable stress-gated cation channel 1) (Transmembrane protein 63C) (hTMEM63C)

Protein function

Acts as an osmosensitive cation channel preferentially activated upon hypotonic stress (PubMed:24503647, PubMed:35718349). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Enriched in mitochondria-ER cont

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13967	RSN1_TM	38 → 206	Late exocytosis, associated with Golgi transport	Family
PF14703	PHM7_cyt	219 → 398	Cytosolic domain of 10TM putative phosphate transporter	Domain
PF02714	RSN1_7TM	409 → 682	Calcium-dependent channel, 7TM region, putative phosphate	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in podocytes of kidney glomeruli (PubMed:30900988). Significantly reduced expression in patients with focal segmental glomerulosclerosis (PubMed:30900988). {ECO:0000269|PubMed:30900988}.

Sequence

MSASPDDLSTGGRLQNMTVDECFQSRNTVLQGQPFGGVPTVLCLNIALWVLVLVVYSFLR
KAAWDYGRLALLIHNDSLTSLIYGEQSEKTSPSETSLEMERRDKGFCSWFFNSITMKDED
LINKCGDDARIYIVFQYHLIIFVLIICIPSLGIILPINYTGSVLDWSSHFARTTIVNVST
ESKLLWLHSLLSFFYFITNFMFMAHHCLGFAPRNSQKVTRTLMITYVPKDIEDPELIIKH
FHEAYPGSVVTRVHFCYDVRNLIDLDDQRRHAMRGRLFYTAKAKKTGKVMIRIHPCARLC
FCKCWTCFKEVDAEQYYSELEEQLTDEFNAELNRVPLKRLDLIFVTFQDSRMAKRVRKDY
KYVQCGVQPQQSSVTTIVKSYYWRVTMAPHPKDIIWKHLSVRRFFWWARFIAINTFLFFL
FFFLTTPAIIMNTIDMYNVTRPIEKLQNPIVTQFFPSVMLWGFTVILPLIVYFSAFLEAH
WTRSSQNLVMVHKCYIFLVFMVVILPSMGLTSLDVFLRWLFDIYYLEQASIRFQCVFLPD
NGAFFVNYVITAALLGTGMELLRLGSLFCYSTRLFFSRSEPERVNIRKNQAIDFQFGREY
AWMMNVFSVVMAYSITCPIIVPFGLLYLCMKHLTDRYNMYYSFAPTKLNEQIHMAAVSQA
IFAPLLGLFWMLFFSILRLGSLHAITIFSLSTLLIAMVIAFVGIFLGKLRMVADYEPEEE
EIQTVFDMEPSSTSSTPTSLLYVATVLQEPELNLTPASSPARHTYGTMNNQPEEGEEESG
LRGFARELDSAQFQEGLELEGQNQYH

Sequence length

806

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spastic paraplegia 87, autosomal recessive	Pathogenic	rs2140130724, rs2140127185, rs2140122740, rs2140129677	RCV002271349 RCV002271350 RCV002271351 RCV002271352	★★★★★ ★★★★☆ 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.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 87	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30900988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35718349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	35718349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35152572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM63C (transmembrane protein 63C)