Aliases for TMEM63A Gene

Aliases for TMEM63A Gene

  • Transmembrane Protein 63A 2 3 4 5
  • KIAA0792 2 3 4
  • CSC1-Like Protein 1 3 4
  • KIAA0489 4
  • TMEM63A 5
  • HLD19 3

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. Diseases associated with TMEM63A include Leukodystrophy, Hypomyelinating, 19, Transient Infantile and Leukodystrophy. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is TMEM63B.

UniProtKB/Swiss-Prot Summary for TMEM63A Gene

  • Acts as an osmosensitive calcium-permeable cation channel (PubMed:30382938, PubMed:31587869). Mechanosensitive ion channel that converts mechanical stimuli into a flow of ion (PubMed:30382938, PubMed:31587869).

Gene Wiki entry for TMEM63A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM63A Gene

Genomics for TMEM63A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM63A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM63A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM63A

Top Transcription factor binding sites by QIAGEN in the TMEM63A gene promoter:
  • GCNF-1
  • GCNF-2
  • Ik-1
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • PPAR-alpha
  • RelA
  • Roaz

Genomic Locations for TMEM63A Gene

Latest Assembly
chr1:225,840,556-225,882,720
(GRCh38/hg38)
Size:
42,165 bases
Orientation:
Minus strand

Previous Assembly
chr1:226,033,237-226,070,080
(GRCh37/hg19 by Entrez Gene)
Size:
36,844 bases
Orientation:
Minus strand

chr1:226,033,237-226,070,069
(GRCh37/hg19 by Ensembl)
Size:
36,833 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAD96654.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAD96664.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for TMEM63A Gene

Post-translational modifications for TMEM63A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM63A Gene

Domains & Families for TMEM63A Gene

Gene Families for TMEM63A Gene

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

Protein Domains for TMEM63A Gene

Suggested Antigen Peptide Sequences for TMEM63A Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 63A (TM63A_HUMAN)

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

Function for TMEM63A Gene

Molecular function for TMEM63A Gene

UniProtKB/Swiss-Prot Function:
Acts as an osmosensitive calcium-permeable cation channel (PubMed:30382938, PubMed:31587869). Mechanosensitive ion channel that converts mechanical stimuli into a flow of ion (PubMed:30382938, PubMed:31587869).

Phenotypes From GWAS Catalog for TMEM63A Gene

Gene Ontology (GO) - Molecular Function for TMEM63A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005227 calcium activated cation channel activity IBA 21873635
GO:0005515 protein binding IPI 28870237
GO:0008381 mechanosensitive ion channel activity IMP 31587869
GO:1990760 osmolarity-sensing cation channel activity ISS --
genes like me logo Genes that share ontologies with TMEM63A: view
genes like me logo Genes that share phenotypes with TMEM63A: view

Human Phenotype Ontology for TMEM63A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM63A Gene

MGI Knock Outs for TMEM63A:

Animal Models for research

  • Taconic Biosciences Mouse Models for TMEM63A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM63A

No data available for Enzyme Numbers (IUBMB) , 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. Cell 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 TMEM63A gene
Compartment Confidence
plasma membrane 5
lysosome 5
extracellular 4
cytoskeleton 4
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM63A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 20957757
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM63A: view

Pathways & Interactions for TMEM63A Gene

PathCards logo

SuperPathways for TMEM63A Gene

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

Pathways by source for TMEM63A Gene

3 Reactome pathways for TMEM63A Gene

Gene Ontology (GO) - Biological Process for TMEM63A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0098655 cation transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMEM63A: view

No data available for SIGNOR curated interactions for TMEM63A Gene

Drugs & Compounds for TMEM63A Gene

No Compound Related Data Available

Transcripts for TMEM63A Gene

mRNA/cDNA for TMEM63A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM63A

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

Expression for TMEM63A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TMEM63A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM63A

SOURCE GeneReport for Unigene cluster for TMEM63A Gene:

Hs.119387

Evidence on tissue expression from TISSUES for TMEM63A Gene

  • Nervous system(4.9)
  • Blood(4.3)
  • Kidney(4.3)
  • Liver(4.2)
  • Intestine(3)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with TMEM63A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM63A 29 30
  • 88.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM63A 29 30
  • 88.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem63a 29 16 30
  • 87.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem63a 29
  • 85.66 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMEM63A 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM63A 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM63A 29 30
  • 68.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM63A 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem63a 29
  • 67.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmem63a 29 30
  • 62.48 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004584 29
  • 49.27 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG11210 29 30
  • 47.75 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSC1 32
Species where no ortholog for TMEM63A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM63A: view image
Alliance of Genome Resources:
Additional Orthologs for TMEM63A

Paralogs for TMEM63A Gene

Paralogs for TMEM63A Gene

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

  • TM63A_HUMAN
  • Q2HIZ8_HUMAN
genes like me logo Genes that share paralogs with TMEM63A: view

Variants for TMEM63A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM63A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
836809 Uncertain Significance: not provided 225,867,150(-) A/C
NM_014698.3(TMEM63A):c.528T>G (p.Tyr176Ter)
NONSENSE
rs115347439 Benign: not provided 225,866,681(-) T/G
NM_014698.3(TMEM63A):c.568A>C (p.Asn190His)
MISSENSE
rs1576074651 Pathogenic: Leukodystrophy; LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE 225,853,727(-) C/T
NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)
MISSENSE
rs1576080546 Pathogenic: Leukodystrophy; LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE 225,857,010(-) A/T
NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn)
MISSENSE
rs1576101665 Pathogenic: Leukodystrophy; LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE 225,867,899(-) C/T
NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM63A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv77e214 CNV loss 21293372
esv2762223 CNV gain 21179565
esv3578457 CNV loss 25503493
nsv160017 CNV deletion 16902084
nsv520628 CNV loss 19592680
nsv524126 CNV gain 19592680

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)

Additional Variant Information for TMEM63A Gene

Human Gene Mutation Database (HGMD)
TMEM63A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM63A
Leiden Open Variation Database (LOVD)
TMEM63A

SNP Genotyping and Copy Number Assays for research

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

Disorders for TMEM63A Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMEM63A Gene - From: OMI, CVR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 19, transient infantile
  • hld19
leukodystrophy
  • leukodystrophies
congenital nystagmus
  • nystagmus congenital
pathologic nystagmus
  • nystagmus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CSCL1_HUMAN
  • Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19) [MIM:618688]: An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. {ECO:0000269 PubMed:31587869}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TMEM63A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TMEM63A: view

No data available for Genatlas for TMEM63A Gene

Publications for TMEM63A Gene

  1. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. (PMID: 31587869) Yan H … Wolf NI (American journal of human genetics 2019) 3 4 72
  2. OSCA/TMEM63 are an Evolutionarily Conserved Family of Mechanically Activated Ion Channels. (PMID: 30382938) Murthy SE … Patapoutian A (eLife 2018) 2 3 4
  3. 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  4. The proteome of lysosomes. (PMID: 20957757) Schröder BA … Saftig P (Proteomics 2010) 3 4
  5. 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 SD … DREAM investigators (Diabetes care 2010) 3 40

Products for TMEM63A Gene

Sources for TMEM63A Gene