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Aliases for TMEM63B Gene

Aliases for TMEM63B Gene

  • Transmembrane Protein 63B 2 3 4 5
  • C6orf110 3 4
  • Chromosome 6 Open Reading Frame 110 2
  • CSC1-Like Protein 2 3

External Ids for TMEM63B Gene

Previous HGNC Symbols for TMEM63B Gene

  • C6orf110

Previous GeneCards Identifiers for TMEM63B Gene

  • GC06P044203
  • GC06P043823

Summaries for TMEM63B Gene

GeneCards Summary for TMEM63B Gene

TMEM63B (Transmembrane Protein 63B) is a Protein Coding gene. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is TMEM63A.

UniProtKB/Swiss-Prot for TMEM63B Gene

  • Acts as an osmosensitive calcium-permeable cation channel.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM63B Gene

Genomics for TMEM63B Gene

Regulatory Elements for TMEM63B Gene

Enhancers for TMEM63B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G044056 2.1 FANTOM5 Ensembl ENCODE dbSUPER 16.4 -64.5 -64500 12.0 MLX CREB3L1 YY1 SLC30A9 ZNF143 ZNF548 MEF2D RCOR2 GLIS1 NBN POLH NFKBIE RPS2P29 MRPL14 TMEM63B ENSG00000271754 VEGFA SLC35B2 AARS2 MAD2L1BP
GH06G044154 1.3 Ensembl ENCODE 17.3 +29.3 29343 2.8 HDGF FOXA2 ATF1 MLX ARID4B ZNF48 SLC30A9 KDM4B PAF1 ZNF263 TMEM63B MRPL14 SRF CAPN11 PIR60878
GH06G044236 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +111.1 111148 2.4 HDGF FOXA2 PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 NFKBIE CAPN11 MRPL14 TMEM63B AARS2 SPATS1 RPL34P14 HSP90AB1 SLC29A1 GC06P044236
GH06G044094 1.1 ENCODE 17.5 -31.8 -31849 1.8 HDGF FOXA2 PKNOX1 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF766 CBX5 MRPL14 TMEM63B CAPN11 VEGFA AARS2 SLC29A1 HSP90AB1 SLC35B2 NFKBIE TMEM151B
GH06G044132 1.5 Ensembl ENCODE dbSUPER 10.6 +6.9 6939 3.1 HDGF FOXA2 CREB3L1 ARID4B FEZF1 ZNF48 TCF12 GLIS2 GATA2 ZNF143 MRPL14 CAPN11 TMEM63B NFKBIE SLC35B2 CRIP3 PIR60878
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM63B on UCSC Golden Path with GeneCards custom track

Promoters for TMEM63B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000197271 743 2201 HDGF FOXA2 PKNOX1 MLX ARNT SIN3A ARID4B DMAP1 YY1 SLC30A9

Genomic Location for TMEM63B Gene

Chromosome:
6
Start:
44,126,757 bp from pter
End:
44,155,519 bp from pter
Size:
28,763 bases
Orientation:
Plus strand

Genomic View for TMEM63B Gene

Genes around TMEM63B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM63B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM63B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM63B Gene

Proteins for TMEM63B Gene

  • Protein details for TMEM63B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T3F8-CSCL2_HUMAN
    Recommended name:
    CSC1-like protein 2
    Protein Accession:
    Q5T3F8
    Secondary Accessions:
    • B9EGU3
    • Q5T3F9
    • Q6AHX4
    • Q6P5A0
    • Q8N219
    • Q8NDE1
    • Q9NSG5

    Protein attributes for TMEM63B Gene

    Size:
    832 amino acids
    Molecular mass:
    94958 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH10540.1; Type=Frameshift; Positions=647; Evidence={ECO:0000305}; Sequence=CAI20530.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM63B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM63B Gene

Post-translational modifications for TMEM63B Gene

  • Ubiquitination at Lys258
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM63B Gene

Domains & Families for TMEM63B Gene

Suggested Antigen Peptide Sequences for TMEM63B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T3F8

UniProtKB/Swiss-Prot:

CSCL2_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 TMEM63B: view

No data available for Gene Families for TMEM63B Gene

Function for TMEM63B Gene

Molecular function for TMEM63B Gene

UniProtKB/Swiss-Prot Function:
Acts as an osmosensitive calcium-permeable cation channel.
genes like me logo Genes that share phenotypes with TMEM63B: view

Animal Models for TMEM63B Gene

MGI Knock Outs for TMEM63B:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM63B

CRISPR Products

miRNA for TMEM63B Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM63B Gene

Localization for TMEM63B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM63B 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 TMEM63B gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMEM63B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0015629 actin cytoskeleton IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM63B: view

Pathways & Interactions for TMEM63B Gene

SuperPathways for TMEM63B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM63B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with TMEM63B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM63B Gene

Drugs & Compounds for TMEM63B Gene

No Compound Related Data Available

Transcripts for TMEM63B Gene

Unigene Clusters for TMEM63B Gene

Transmembrane protein 63B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM63B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^
SP1: - - -
SP2: - -
SP3: - - - - - - - - - - - - -
SP4: -
SP5: - - - -
SP6: - -
SP7:
SP8:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for TMEM63B Gene

GeneLoc Exon Structure for
TMEM63B
ECgene alternative splicing isoforms for
TMEM63B

Expression for TMEM63B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM63B Gene

Protein differential expression in normal tissues from HIPED for TMEM63B Gene

This gene is overexpressed in Monocytes (30.6), NK cells (15.1), and Kidney (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM63B Gene



Protein tissue co-expression partners for TMEM63B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM63B Gene:

TMEM63B

SOURCE GeneReport for Unigene cluster for TMEM63B Gene:

Hs.414473

Evidence on tissue expression from TISSUES for TMEM63B Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Pancreas(4.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with TMEM63B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM63B Gene

Orthologs for TMEM63B Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM63B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM63B 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia TMEM63B 34 35
  • 94.71 (n)
cow
(Bos Taurus)
Mammalia TMEM63B 34 35
  • 94.02 (n)
mouse
(Mus musculus)
Mammalia Tmem63b 34 16 35
  • 92.95 (n)
rat
(Rattus norvegicus)
Mammalia Tmem63b 34
  • 92.51 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM63B 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM63B 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM63B 34 35
  • 81.98 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM63B 35
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15155 34
zebrafish
(Danio rerio)
Actinopterygii tmem63ba 34
  • 75.04 (n)
tmem63bb 35
  • 44 (a)
OneToOne
wufk59g12 34
fruit fly
(Drosophila melanogaster)
Insecta CG11210 35
  • 32 (a)
OneToMany
Species where no ortholog for TMEM63B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM63B Gene

ENSEMBL:
Gene Tree for TMEM63B (if available)
TreeFam:
Gene Tree for TMEM63B (if available)

Paralogs for TMEM63B Gene

Paralogs for TMEM63B Gene

(2) SIMAP similar genes for TMEM63B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TMEM63B: view

Variants for TMEM63B Gene

Sequence variations from dbSNP and Humsavar for TMEM63B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000334238 -- 44,141,010(+) AAACC(C/T)ACTCC intron-variant
rs1000339022 -- 44,128,132(+) CCTTT(C/T)ATTTT intron-variant, upstream-variant-2KB
rs1000386577 -- 44,141,246(+) TCCAG(A/G)GTGGT intron-variant
rs1000549829 -- 44,146,495(+) GCCCA(G/T)TCTGG intron-variant
rs1000770792 -- 44,126,696(+) CAGGA(A/T)CCAGA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM63B Gene

Variant ID Type Subtype PubMed ID
nsv1073976 CNV deletion 25765185
nsv462935 CNV loss 19166990
nsv509132 CNV insertion 20534489
nsv603002 CNV loss 21841781

Variation tolerance for TMEM63B Gene

Residual Variation Intolerance Score: 4.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM63B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM63B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM63B Gene

Disorders for TMEM63B Gene

Relevant External Links for TMEM63B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM63B

No disorders were found for TMEM63B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM63B Gene

Publications for TMEM63B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for TMEM63B Gene

Sources for TMEM63B Gene

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