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Aliases for TMEM63A Gene

Aliases for TMEM63A Gene

  • Transmembrane Protein 63A 2 3 4 5
  • KIAA0792 2 3 4
  • KIAA0489 4

External Ids for TMEM63A Gene

Previous HGNC Symbols for TMEM63A Gene

  • KIAA0792

Previous GeneCards Identifiers for TMEM63A Gene

  • GC01M222340
  • GC01M224099
  • GC01M226033
  • GC01M196550

Summaries for TMEM63A Gene

GeneCards Summary for TMEM63A Gene

TMEM63A (Transmembrane Protein 63A) is a Protein Coding gene. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is TMEM63C.

UniProtKB/Swiss-Prot for TMEM63A Gene

  • Acts as an osmosensitive calcium-permeable cation channel.

Gene Wiki entry for TMEM63A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM63A Gene

Genomics for TMEM63A Gene

Regulatory Elements for TMEM63A Gene

Promoters for TMEM63A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM63A on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM63A Gene

Chromosome:
1
Start:
225,840,570 bp from pter
End:
225,882,720 bp from pter
Size:
42,151 bases
Orientation:
Minus strand

Genomic View for TMEM63A Gene

Genes around TMEM63A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM63A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM63A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM63A Gene

Proteins for TMEM63A Gene

  • Protein details for TMEM63A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94886-CSCL1_HUMAN
    Recommended name:
    CSC1-like protein 1
    Protein Accession:
    O94886
    Secondary Accessions:
    • Q53GI7
    • Q5TE96
    • Q8N2U2

    Protein attributes for TMEM63A Gene

    Size:
    807 amino acids
    Molecular mass:
    92126 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA34512.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD96654.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD96664.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for TMEM63A Gene

Proteomics data for TMEM63A Gene at MOPED

Post-translational modifications for TMEM63A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM63A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM63A Gene

Domains & Families for TMEM63A Gene

Protein Domains for TMEM63A Gene

Suggested Antigen Peptide Sequences for TMEM63A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94886

UniProtKB/Swiss-Prot:

CSCL1_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 TMEM63A: view

No data available for Gene Families for TMEM63A Gene

Function for TMEM63A Gene

Molecular function for TMEM63A Gene

UniProtKB/Swiss-Prot Function:
Acts as an osmosensitive calcium-permeable cation channel.
genes like me logo Genes that share phenotypes with TMEM63A: view

Animal Models for TMEM63A Gene

MGI Knock Outs for TMEM63A:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM63A

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM63A Gene

Localization for TMEM63A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM63A Gene

Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM63A Gene COMPARTMENTS Subcellular localization image for TMEM63A gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for TMEM63A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TMEM63A: view

Pathways & Interactions for TMEM63A Gene

SuperPathways for TMEM63A Gene

No Data Available

Interacting Proteins for TMEM63A Gene

Gene Ontology (GO) - Biological Process for TMEM63A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM63A Gene

Drugs & Compounds for TMEM63A Gene

No Compound Related Data Available

Transcripts for TMEM63A Gene

Unigene Clusters for TMEM63A Gene

Transmembrane protein 63A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM63A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a ·
SP1:
SP2:
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: -
SP7: - - - - - - - - -
SP8:
SP9: - - - - -
SP10: - - - - - - - -
SP11: -
SP12: - - -
SP13:
SP14: - -
SP15: - -
SP16: -
SP17:
SP18:

ExUns: 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for TMEM63A Gene

GeneLoc Exon Structure for
TMEM63A
ECgene alternative splicing isoforms for
TMEM63A

Expression for TMEM63A Gene

mRNA expression in normal human tissues for TMEM63A Gene

mRNA differential expression in normal tissues according to GTEx for TMEM63A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.3).

Protein differential expression in normal tissues from HIPED for TMEM63A Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (16.7), Peripheral blood mononuclear cells (12.2), and Salivary gland (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM63A Gene



SOURCE GeneReport for Unigene cluster for TMEM63A Gene Hs.119387

genes like me logo Genes that share expression patterns with TMEM63A: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TMEM63A Gene

Orthologs for TMEM63A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMEM63A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM63A 35
  • 99.34 (n)
  • 99.75 (a)
TMEM63A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM63A 36
  • 90 (a)
OneToOne
TMEM63A 35
  • 88.81 (n)
  • 89.39 (a)
dog
(Canis familiaris)
Mammalia TMEM63A 35
  • 88.72 (n)
  • 89.43 (a)
TMEM63A 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem63a 16
Tmem63a 36
  • 90 (a)
OneToOne
Tmem63a 35
  • 87.27 (n)
  • 90.05 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM63A 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM63A 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem63a 35
  • 85.66 (n)
  • 88.31 (a)
chicken
(Gallus gallus)
Aves TMEM63A 36
  • 67 (a)
OneToOne
TMEM63A 35
  • 68.01 (n)
  • 69.32 (a)
lizard
(Anolis carolinensis)
Reptilia TMEM63A 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem63a 35
  • 67.27 (n)
  • 66.88 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem63a 35
  • 62.48 (n)
  • 58.07 (a)
tmem63a 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004584 35
  • 49.27 (n)
  • 39.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11210 35
  • 47.75 (n)
  • 35.85 (a)
CG11210 36
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSC1 38
Species with no ortholog for TMEM63A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 TMEM63A Gene

ENSEMBL:
Gene Tree for TMEM63A (if available)
TreeFam:
Gene Tree for TMEM63A (if available)

Paralogs for TMEM63A Gene

Paralogs for TMEM63A Gene

(2) SIMAP similar genes for TMEM63A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TMEM63A: view

Variants for TMEM63A Gene

Sequence variations from dbSNP and Humsavar for TMEM63A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1009668 - 225,852,703(-) TCATC(A/G)TGGCC nc-transcript-variant, reference, missense
rs57306966 - 225,871,086(+) ACGGA(A/T)GATGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs360061 -- 225,850,913(-) taaca(A/C/T)ggtga intron-variant
rs360062 -- 225,850,806(-) tgaac(C/T)cagga intron-variant
rs360063 -- 225,848,608(+) TGAAC(A/G)AACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM63A Gene

Variant ID Type Subtype PubMed ID
nsv524126 CNV Gain 19592680
nsv873231 CNV Loss 21882294
nsv520628 CNV Loss 19592680
nsv160017 CNV Loss 16902084

Variation tolerance for TMEM63A Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.15; 90.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM63A Gene

HapMap Linkage Disequilibrium report
TMEM63A
Human Gene Mutation Database (HGMD)
TMEM63A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM63A Gene

Disorders for TMEM63A Gene

Relevant External Links for TMEM63A

Genetic Association Database (GAD)
TMEM63A
Human Genome Epidemiology (HuGE) Navigator
TMEM63A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM63A

No disorders were found for TMEM63A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM63A Gene

Publications for TMEM63A Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N. … Ohara O. (DNA Res. 1997) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3
  5. The proteome of lysosomes. (PMID: 20957757) Schroeder B.A. … Saftig P. (Proteomics 2010) 3

Products for TMEM63A Gene

Sources for TMEM63A Gene

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