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Aliases for TMEM63C Gene

Aliases for TMEM63C Gene

  • Transmembrane Protein 63C 2 3 4 5
  • 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. GO annotations related to this gene include calcium activated cation channel activity. An important paralog of this gene is TMEM63B.

UniProtKB/Swiss-Prot for TMEM63C Gene

  • Acts as an osmosensitive calcium-permeable cation channel.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM63C Gene

Genomics for TMEM63C Gene

Regulatory Elements for TMEM63C Gene

Genomic Location for TMEM63C Gene

Chromosome:
14
Start:
77,116,568 bp from pter
End:
77,259,495 bp from pter
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

Proteomics data for TMEM63C Gene at MOPED

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

Protein Domains for TMEM63C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM63C Gene

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

No data available for Gene Families for TMEM63C Gene

Function for TMEM63C Gene

Molecular function for TMEM63C Gene

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

Phenotypes for TMEM63C Gene

genes like me logo Genes that share phenotypes with TMEM63C: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TMEM63C Gene COMPARTMENTS Subcellular localization image for TMEM63C gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for TMEM63C Gene

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

Pathways & Interactions for TMEM63C Gene

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:0098655 cation transmembrane transport IDA 24503647
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

Unigene Clusters for TMEM63C Gene

Transmembrane protein 63C:
Representative Sequences:

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
ECgene alternative splicing isoforms for
TMEM63C

Expression for TMEM63C Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for TMEM63C Gene



SOURCE GeneReport for Unigene cluster for TMEM63C Gene Hs.22452

genes like me logo Genes that share expression patterns with TMEM63C: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 35
  • 98.05 (n)
  • 97.96 (a)
TMEM63C 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM63C 36
  • 81 (a)
OneToOne
TMEM63C 35
  • 85.36 (n)
  • 82.34 (a)
dog
(Canis familiaris)
Mammalia TMEM63C 35
  • 86.77 (n)
  • 85.2 (a)
TMEM63C 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem63c 16
Tmem63c 36
  • 83 (a)
OneToOne
Tmem63c 35
  • 83.79 (n)
  • 83.92 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM63C 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM63C 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem63c 35
  • 83.37 (n)
  • 83.17 (a)
chicken
(Gallus gallus)
Aves TMEM63C 35
  • 67.41 (n)
  • 58.66 (a)
TMEM63C 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM63C 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem63c 35
  • 59.89 (n)
  • 55.35 (a)
zebrafish
(Danio rerio)
Actinopterygii TMEM63C 36
  • 50 (a)
OneToOne
LOC100000800 35
  • 62.39 (n)
  • 56.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11210 36
  • 27 (a)
OneToMany
Species with no ortholog for TMEM63C:
  • 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)

Paralogs for TMEM63C Gene

Paralogs for TMEM63C Gene

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

genes like me logo Genes that share paralogs with TMEM63C: view

Variants for TMEM63C Gene

Sequence variations from dbSNP and Humsavar for TMEM63C Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs2287384 - 77,249,380(+) TCCAC(A/G)TGGCT reference, missense
rs207804 -- 77,207,472(+) TACCC(C/G)AGAAA intron-variant
rs449773 -- 77,227,348(+) GTCAG(C/T)AGGTT intron-variant
rs450587 -- 77,223,864(+) CATCA(A/G)GAAAG intron-variant
rs452358 -- 77,252,266(+) GGTTG(C/G/T)GGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832834 CNV Gain+Loss 17160897
dgv404e199 CNV Deletion 23128226
esv2748895 CNV Deletion 23290073
esv2741938 CNV Deletion 23290073
esv2748897 CNV Deletion 23290073
esv2237407 CNV Deletion 18987734
esv2748898 CNV Deletion 23290073
esv1001977 CNV Deletion 20482838
esv1173459 CNV Deletion 17803354
esv1308109 CNV Deletion 17803354
esv2748899 CNV Deletion 23290073
esv2748900 CNV Deletion 23290073
nsv1361 CNV Loss 18451855
nsv902104 CNV Loss 21882294

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)

Relevant External Links for TMEM63C Gene

HapMap Linkage Disequilibrium report
TMEM63C

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

Disorders for TMEM63C Gene

Relevant External Links for TMEM63C

Genetic Association Database (GAD)
TMEM63C
Human Genome Epidemiology (HuGE) Navigator
TMEM63C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM63C

No disorders were found for TMEM63C Gene.

No data available for MalaCards , 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 Res. 2014) 2 3 4 67
  2. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. (PMID: 22925353) Lee H.J. … Kelsoe J.R. (J Affect Disord 2013) 3
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3

Products for TMEM63C Gene

Sources for TMEM63C Gene

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