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    TSPAN31 tetraspanin 31 [ Homo sapiens (human) ]

    Gene ID: 6302, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TSPAN31provided by HGNC
    Official Full Name
    tetraspanin 31provided by HGNC
    Primary source
    HGNC:HGNC:10539
    See related
    Ensembl:ENSG00000135452 MIM:181035; AllianceGenome:HGNC:10539
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAS
    Summary
    The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.9), adrenal (RPKM 13.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSPAN31 in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57745039..57750219)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57713393..57718569)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58138822..58144002)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:58087544-58088118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6550 Neighboring gene OS9 endoplasmic reticulum lectin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58120605-58121240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58121241-58121874 Neighboring gene AGAP2 antisense RNA 1 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58127413-58128612 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:58131678-58131897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58145719-58146452 Neighboring gene microRNA 6759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4592 Neighboring gene cyclin dependent kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6556 Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:58158104-58158882 Neighboring gene cytochrome P450 family 27 subfamily B member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and cloning of a novel amplified DNA sequence in human malignant fibrous histiocytoma derived from a region of chromosome 12 frequently rearranged in soft tissue tumors. Meltzer PS, et al. Cell Growth Differ, 1991 Oct. PMID 1661131
    2. The ins and outs of the transmembrane 4 superfamily. Wright MD, et al. Immunol Today, 1994 Dec. PMID 7531445
    3. Genomic structure of SAS, a member of the transmembrane 4 superfamily amplified in human sarcomas. Jankowski SA, et al. Genomics, 1995 Jan 20. PMID 7789984
    4. SAS, a gene amplified in human sarcomas, encodes a new member of the transmembrane 4 superfamily of proteins. Jankowski SA, et al. Oncogene, 1994 Apr. PMID 8134123
    5. Co-amplification and overexpression of CDK4, SAS and MDM2 occurs frequently in human parosteal osteosarcomas. Wunder JS, et al. Oncogene, 1999 Jan 21. PMID 9989829

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of Tetraspanin31 contributes to malignant potential and poor outcomes in gastric cancer.
      Title: Overexpression of Tetraspanin31 contributes to malignant potential and poor outcomes in gastric cancer.
    2. TSPAN31 suppresses cell proliferation in human cervical cancer through down-regulation of its antisense pairing with CDK4.
      Title: TSPAN31 suppresses cell proliferation in human cervical cancer through down-regulation of its antisense pairing with CDK4.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    5. CDK4, MDM2, SAS and GLI genes are amplified in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma
      Title: Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetraspanin-31
    Names
    sarcoma-amplified sequence
    transmembrane 4 protein
    tspan-31

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330168.2 → NP_001317097.1  tetraspanin-31 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini as isoform 1
      Source sequence(s)
      AC025165, CN479167, DC392401, U01160
      Consensus CDS
      CCDS86313.1
      UniProtKB/TrEMBL
      F8VWE0
      Related
      ENSP00000449199.1, ENST00000547472.5

    2. NM_001330169.2 → NP_001317098.1  tetraspanin-31 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' terminal exon compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC025165, AK294128, CN479167, DC392401, U01160
      UniProtKB/TrEMBL
      B4DFJ7
      Conserved Domains (1) summary
      pfam00335
      Location:2 → 118
      Tetraspannin; Tetraspanin family

    3. NM_005981.5 → NP_005972.1  tetraspanin-31 isoform 1

      See identical proteins and their annotated locations for NP_005972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC025165, CN479167, DC392401, U01160
      Consensus CDS
      CCDS8952.1
      UniProtKB/Swiss-Prot
      O00577, Q12999, Q53X76
      Related
      ENSP00000257910.3, ENST00000257910.8
      Conserved Domains (1) summary
      pfam00335
      Location:9 → 196
      Tetraspannin; Tetraspanin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57745039..57750219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449123.2 → XP_024304891.1  tetraspanin-31 isoform X1

      UniProtKB/TrEMBL
      B4DFJ7
      Conserved Domains (1) summary
      pfam00335
      Location:2 → 118
      Tetraspannin; Tetraspanin family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57713393..57718569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372857.1 → XP_054228832.1  tetraspanin-31 isoform X1

      UniProtKB/TrEMBL
      B4DFJ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12999.1 GenPept UniProtKB/Swiss-Prot:Q12999

    Gene LinkOut

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