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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. Gene Ontology (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.

Additional gene information for TMEM63B Gene

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

GeneHancer (GH) Regulatory Elements for TMEM63B Gene

Promoters and enhancers for TMEM63B 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
GH06I044125 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 561.1 +0.6 611 3.3 HDGF PKNOX1 ARNT ARID4B DMAP1 POLR2B ZNF766 JUNB MXD4 REST MRPL14 TMEM63B POLH ZNF318 XPO5 RPS2P29 POLR1C GTPBP2 AARS2 NFKBIE
GH06I044056 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.4 -64.5 -64499 12 MLX YY1 SLC30A9 E2F8 ZNF143 ZNF548 MEF2D GLIS1 RCOR2 NBN POLH GTPBP2 NFKBIE ZNF318 MRPL14 TMEM63B VEGFA SLC35B2 CDC5L ABCC10
GH06I044236 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +111.1 111147 2.4 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF766 GC06P044236 NFKBIE CAPN11 MRPL14 TMEM63B AARS2 SPATS1 RPL34P14 HSP90AB1 SLC29A1
GH06I044154 Enhancer 1.1 Ensembl ENCODE 17.3 +29.3 29343 2.8 FOXA2 MLX ARID4B ZNF48 ETS1 SLC30A9 PAF1 SP5 NFYC MIER2 TMEM63B MRPL14 SRF CAPN11 PIR60878
GH06I044094 Enhancer 0.9 ENCODE 17.6 -31.8 -31849 1.8 PKNOX1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 SLC30A9 RXRA SP5 MRPL14 TMEM63B CAPN11 VEGFA AARS2 SLC29A1 HSP90AB1 SLC35B2 NFKBIE TMEM151B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM63B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM63B gene promoter:

Genomic Locations for TMEM63B Gene

Genomic Locations for TMEM63B Gene
chr6:44,126,757-44,155,519
(GRCh38/hg38)
Size:
28,763 bases
Orientation:
Plus strand
chr6:44,094,651-44,123,256
(GRCh37/hg19)

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 isoforms=2, 3258

No data available for DME Specific Peptides for TMEM63B Gene

Domains & Families for TMEM63B Gene

Gene Families for TMEM63B Gene

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

Protein Domains 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

Function for TMEM63B Gene

Molecular function for TMEM63B Gene

UniProtKB/Swiss-Prot Function:
Acts as an osmosensitive calcium-permeable cation channel.

Phenotypes From GWAS Catalog for TMEM63B Gene

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

Animal Models for TMEM63B Gene

MGI Knock Outs for TMEM63B:

Animal Model Products

miRNA for TMEM63B Gene

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Plasma membrane (4)
See all subcellular structures

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:

Clone 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

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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia TMEM63B 33 34
  • 94.71 (n)
cow
(Bos Taurus)
Mammalia TMEM63B 33 34
  • 94.02 (n)
mouse
(Mus musculus)
Mammalia Tmem63b 33 16 34
  • 92.95 (n)
rat
(Rattus norvegicus)
Mammalia Tmem63b 33
  • 92.51 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM63B 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM63B 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM63B 33 34
  • 81.98 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM63B 34
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15155 33
zebrafish
(Danio rerio)
Actinopterygii tmem63ba 33
  • 75.04 (n)
tmem63bb 34
  • 44 (a)
OneToOne
wufk59g12 33
fruit fly
(Drosophila melanogaster)
Insecta CG11210 34
  • 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 Variation AA Info Type
rs1000334238 -- 44,141,010(+) C/T intron_variant
rs1000339022 -- 44,128,132(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000386577 -- 44,141,246(+) G/A intron_variant
rs1000549829 -- 44,146,495(+) G/T intron_variant
rs1000770792 -- 44,126,696(+) A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for TMEM63B Gene

Sources for TMEM63B Gene

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