Aliases for TMEM63C Gene

Aliases for TMEM63C Gene

  • Transmembrane Protein 63C 2 3 4 5
  • Calcium Permeable Stress-Gated Cation Channel 1 3 4
  • C14orf171 3 4
  • CSC1 3 4
  • Calcium Permeable Stress-Gated Cation Channel 1 Homolog (Arabidopsis) 2
  • Calcium Permeable Stress-Gated Cation Channel 1 Homolog 3
  • Chromosome 14 Open Reading Frame 171 2
  • HsCSC1 3

External Ids for TMEM63C Gene

Previous HGNC Symbols for TMEM63C Gene

  • C14orf171

Previous GeneCards Identifiers for TMEM63C Gene

  • GC14P076718
  • GC14P077648
  • GC14P057815
  • GC14P077582

Summaries for TMEM63C Gene

GeneCards Summary for TMEM63C Gene

TMEM63C (Transmembrane Protein 63C) is a Protein Coding gene. Diseases associated with TMEM63C include Coffin-Siris Syndrome 1 and Cholestasis, Intrahepatic, Of Pregnancy, 1. Gene Ontology (GO) annotations related to this gene include calcium activated cation channel activity. An important paralog of this gene is TMEM63B.

UniProtKB/Swiss-Prot Summary for TMEM63C Gene

Additional gene information for TMEM63C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM63C Gene

Genomics for TMEM63C Gene

GeneHancer (GH) Regulatory Elements for TMEM63C Gene

Promoters and enhancers for TMEM63C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J077181 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 529.2 +65.5 65457 2 ZNF217 EP300 TEAD4 ZIC2 ZNF423 ZBTB26 TRIM28 RFX1 HDAC2 MXI1 TMEM63C ZDHHC22 NGB lnc-CIPC-5 ENSG00000201384 ENSG00000259164
GH14J077219 Promoter/Enhancer 0.8 EPDnew dbSUPER 500.1 +103.4 103400 0.1 RXRA HNF4A SUZ12 SP1 CTCF lnc-NGB-3 TMEM63C ENSG00000201384 ENSG00000259164
GH14J077116 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.7 -0.9 -882 0.1 TMEM63C CIPC piR-43429 ENSG00000259164
GH14J077115 Enhancer 0.4 dbSUPER 500.7 +0.5 544 2.8 CEBPG ATF4 KLF1 PKNOX1 TMEM63C CIPC LINC02288 ENSG00000259164 ENSG00000269883
GH14J077183 Enhancer 0.9 ENCODE dbSUPER 34.4 +68.0 67953 1.8 FOXA2 USF1 FOS TFDP1 SAP130 ZNF205 MXD4 NR3C1 ZFHX2 MAX TMEM63C lnc-CIPC-5 ENSG00000201384 ENSG00000259164
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM63C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM63C

Top Transcription factor binding sites by QIAGEN in the TMEM63C gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • HNF-4alpha1
  • Ik-2
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • RREB-1

Genomic Locations for TMEM63C Gene

Genomic Locations for TMEM63C Gene
chr14:77,116,568-77,259,495
(GRCh38/hg38)
Size:
142,928 bases
Orientation:
Plus strand
chr14:77,582,911-77,725,838
(GRCh37/hg19)
Size:
142,928 bases
Orientation:
Plus strand

Genomic View for TMEM63C Gene

Genes around TMEM63C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM63C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM63C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM63C Gene

Proteins for TMEM63C Gene

  • Protein details for TMEM63C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P1W3-CSC1_HUMAN
    Recommended name:
    Calcium permeable stress-gated cation channel 1
    Protein Accession:
    Q9P1W3
    Secondary Accessions:
    • B2RN22
    • B3KWJ5
    • Q86TS3
    • Q86TS4
    • Q9NSQ4
    • Q9P1W1

    Protein attributes for TMEM63C Gene

    Size:
    806 amino acids
    Molecular mass:
    93317 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF62556.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TMEM63C Gene

Post-translational modifications for TMEM63C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM63C Gene

No data available for DME Specific Peptides for TMEM63C Gene

Domains & Families for TMEM63C Gene

Gene Families for TMEM63C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM63C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM63C Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 63C, isoform CRA_a (B2RN22_HUMAN)
  • Transmembrane protein 63C (TM63C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P1W3

UniProtKB/Swiss-Prot:

CSC1_HUMAN :
  • Belongs to the CSC1 (TC 1.A.17) family.
Family:
  • Belongs to the CSC1 (TC 1.A.17) family.
genes like me logo Genes that share domains with TMEM63C: view

Function for TMEM63C Gene

Molecular function for TMEM63C Gene

UniProtKB/Swiss-Prot Function:
Acts as an osmosensitive calcium-permeable cation channel.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by hyperosmotic shock after mannitol treatment.

Phenotypes From GWAS Catalog for TMEM63C Gene

Gene Ontology (GO) - Molecular Function for TMEM63C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005227 calcium activated cation channel activity IDA 24503647
genes like me logo Genes that share ontologies with TMEM63C: view
genes like me logo Genes that share phenotypes with TMEM63C: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM63C Gene

Localization for TMEM63C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM63C Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM63C gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM63C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM63C: view

Pathways & Interactions for TMEM63C Gene

PathCards logo

SuperPathways for TMEM63C Gene

No Data Available

Interacting Proteins for TMEM63C Gene

;

Gene Ontology (GO) - Biological Process for TMEM63C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IDA 24503647
GO:0034220 ion transmembrane transport IEA --
GO:0098655 cation transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMEM63C: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM63C Gene

Drugs & Compounds for TMEM63C Gene

No Compound Related Data Available

Transcripts for TMEM63C Gene

mRNA/cDNA for TMEM63C Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM63C Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: -

ExUns: 23 ^ 24a · 24b ^ 25 ^ 26a · 26b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for TMEM63C Gene

GeneLoc Exon Structure for
TMEM63C

Expression for TMEM63C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM63C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM63C Gene

This gene is overexpressed in Pituitary (x7.9), Brain - Cerebellum (x7.9), and Brain - Cerebellar Hemisphere (x6.9).

Protein differential expression in normal tissues from HIPED for TMEM63C Gene

This gene is overexpressed in Nasopharynx (24.4), Cerebral cortex (16.3), Rectum (7.4), and Uterus (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM63C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM63C

SOURCE GeneReport for Unigene cluster for TMEM63C Gene:

Hs.22452

Evidence on tissue expression from TISSUES for TMEM63C Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with TMEM63C: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM63C Gene

Orthologs for TMEM63C Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM63C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM63C 31 30
  • 98.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM63C 31 30
  • 86.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM63C 31 30
  • 85.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem63c 17 31 30
  • 83.79 (n)
rat
(Rattus norvegicus)
Mammalia Tmem63c 30
  • 83.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM63C 31
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM63C 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM63C 31 30
  • 67.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM63C 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem63c 30
  • 59.89 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100000800 30
  • 62.39 (n)
TMEM63C 31
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11210 31
  • 27 (a)
OneToMany
Species where no ortholog for TMEM63C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM63C Gene

ENSEMBL:
Gene Tree for TMEM63C (if available)
TreeFam:
Gene Tree for TMEM63C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM63C: view image

Paralogs for TMEM63C Gene

Paralogs for TMEM63C Gene

(2) SIMAP similar genes for TMEM63C Gene using alignment to 6 proteins:

  • TM63C_HUMAN
  • G3V2V1_HUMAN
  • G3V3H0_HUMAN
  • G3V3S4_HUMAN
  • G3V3S9_HUMAN
  • G3V4J5_HUMAN
genes like me logo Genes that share paralogs with TMEM63C: view

Variants for TMEM63C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM63C Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs2287384 - p.Met654Val

Additional dbSNP identifiers (rs#s) for TMEM63C Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM63C Gene

Variant ID Type Subtype PubMed ID
dgv1104n106 CNV deletion 24896259
dgv404e199 CNV deletion 23128226
esv1001977 CNV deletion 20482838
esv1173459 CNV deletion 17803354
esv1308109 CNV deletion 17803354
esv2237407 CNV deletion 18987734
esv2741938 CNV deletion 23290073
esv2748895 CNV deletion 23290073
esv2748897 CNV deletion 23290073
esv2748898 CNV deletion 23290073
esv2748899 CNV deletion 23290073
esv2748900 CNV deletion 23290073
nsv1069806 CNV deletion 25765185
nsv1069807 CNV deletion 25765185
nsv1125587 CNV tandem duplication 24896259
nsv1127390 CNV deletion 24896259
nsv1141584 CNV deletion 24896259
nsv1361 CNV deletion 18451855
nsv832834 CNV gain+loss 17160897
nsv952871 CNV deletion 24416366
nsv976845 CNV duplication 23825009

Variation tolerance for TMEM63C Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM63C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM63C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM63C Gene

Disorders for TMEM63C Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMEM63C Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM63C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TMEM63C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM63C Gene

Publications for TMEM63C Gene

  1. DUF221 proteins are a family of osmosensitive calcium-permeable cation channels conserved across eukaryotes. (PMID: 24503647) Hou C … Li L (Cell research 2014) 2 3 4 54
  2. Co-expression of mouse TMEM63A, TMEM63B and TMEM63C confers hyperosmolarity activated ion currents in HEK293 cells. (PMID: 27045885) Zhao X … Ni X (Cell biochemistry and function 2016) 2 3 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 54

Products for TMEM63C Gene

Sources for TMEM63C Gene