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    TSPAN14 tetraspanin 14 [ Homo sapiens (human) ]

    Gene ID: 81619, updated on 11-Apr-2024

    Summary

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    Official Symbol
    TSPAN14provided by HGNC
    Official Full Name
    tetraspanin 14provided by HGNC
    Primary source
    HGNC:HGNC:23303
    See related
    Ensembl:ENSG00000108219 AllianceGenome:HGNC:23303
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TM4SF14; DC-TM4F2; tspan-14
    Summary
    Enables enzyme binding activity. Involved in positive regulation of Notch signaling pathway; protein localization to plasma membrane; and protein maturation. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 22.8), placenta (RPKM 20.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q23.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80454310..80522631)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81323409..81391729)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (82214066..82282387)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1026 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82123032-82123216 Neighboring gene DPY30 domain containing 1 Neighboring gene DPY30 domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:82163430-82163602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82168661-82169254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82170101-82170600 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:82177040-82177582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3654 Neighboring gene peroxiredoxin like 2A Neighboring gene Sharpr-MPRA regulatory region 12974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82214375-82214892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3659 Neighboring gene Sharpr-MPRA regulatory region 907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82224527-82225098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82225099-82225670 Neighboring gene Sharpr-MPRA regulatory region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2547 Neighboring gene Sharpr-MPRA regulatory region 2609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82257110-82258073 Neighboring gene Sharpr-MPRA regulatory region 10623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3664 Neighboring gene uncharacterized LOC124902471 Neighboring gene TSPAN14 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3670 Neighboring gene SH2 domain containing 4B Neighboring gene MPRA-validated peak1027 silencer Neighboring gene uncharacterized LOC105378387

    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. TspanC8 Tetraspanins and A Disintegrin and Metalloprotease 10 (ADAM10) Interact via Their Extracellular Regions: EVIDENCE FOR DISTINCT BINDING MECHANISMS FOR DIFFERENT TspanC8 PROTEINS. Noy PJ, et al. J Biol Chem, 2016 Feb 12. PMID 26668317, Free PMC Article
    2. TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization. Jouannet S, et al. Cell Mol Life Sci, 2016 May. PMID 26686862, Free PMC Article
    3. Identification of genes associated with non-small-cell lung cancer promotion and progression. Bankovic J, et al. Lung Cancer, 2010 Feb. PMID 19473719
    4. The TspanC8 subgroup of tetraspanins interacts with A disintegrin and metalloprotease 10 (ADAM10) and regulates its maturation and cell surface expression. Haining EJ, et al. J Biol Chem, 2012 Nov 16. PMID 23035126, Free PMC Article
    5. TspanC8 tetraspanins regulate ADAM10/Kuzbanian trafficking and promote Notch activation in flies and mammals. Dornier E, et al. J Cell Biol, 2012 Oct 29. PMID 23091066, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that large extracellular loop of Tspan14 mediates interaction with ADAM10, promotes ADAM10 maturation/trafficking to cell surface, and affects ADAM10 substrate specificity; ADAM10/Tspan14 interact in platelets/vascular endothelial cells.
      Title: TspanC8 Tetraspanins and A Disintegrin and Metalloprotease 10 (ADAM10) Interact via Their Extracellular Regions: EVIDENCE FOR DISTINCT BINDING MECHANISMS FOR DIFFERENT TspanC8 PROTEINS.
    2. genetic alterations of TSPAN14, SLC2A13 and PHF20 could play a role in non-small-cell lung cancer promotion
      Title: Identification of genes associated with non-small-cell lung cancer promotion and progression.
    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

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC11352

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in tetraspanin-enriched microdomain IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tetraspanin-14
    Names
    tetraspanin similar to TM4SF9
    transmembrane 4 superfamily member 14

    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_001128309.3 → NP_001121781.1  tetraspanin-14 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001121781.1

      Status: VALIDATED

      Source sequence(s)
      AC021028, BM991301, BQ923322, DC300676
      Consensus CDS
      CCDS44448.1
      UniProtKB/Swiss-Prot
      Q8NG11
      Related
      ENSP00000418195.1, ENST00000481124.5
      Conserved Domains (1) summary
      cl02781
      Location:23 → 110
      tetraspanin_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL). Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans the ...

    2. NM_001351266.2 → NP_001338195.1  tetraspanin-14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC021028, AL136638, BC002920, BM991301, BQ923322
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    3. NM_001351267.4 → NP_001338196.1  tetraspanin-14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC021028
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Related
      ENSP00000361231.1, ENST00000372158.6
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    4. NM_001351268.2 → NP_001338197.1  tetraspanin-14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC021028, AL136638, AL519790, BC002920, BM991301, BQ923322
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    5. NM_001351269.2 → NP_001338198.1  tetraspanin-14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC021028, BC002920, BM991301, DN998010
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    6. NM_001351270.2 → NP_001338199.1  tetraspanin-14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC021028, AL136638, BC002920, BM991301, BQ923322
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Related
      ENSP00000361229.1, ENST00000372156.5
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    7. NM_001351271.2 → NP_001338200.1  tetraspanin-14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC021028, AL136638, BC002920, BM991301, BQ923322
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    8. NM_001351272.2 → NP_001338201.1  tetraspanin-14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC021028, AL136638, BC002920, BM991301, BQ923322
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    9. NM_030927.4 → NP_112189.2  tetraspanin-14 isoform 1

      See identical proteins and their annotated locations for NP_112189.2

      Status: VALIDATED

      Source sequence(s)
      AC021028, AL136638, BC002920, BM991301, BQ923322
      Consensus CDS
      CCDS7369.1
      UniProtKB/Swiss-Prot
      A6NHE1, B4DHY6, D3DWD7, D3DWD8, Q567U7, Q8NG11, Q9BU34, Q9H0U1
      Related
      ENSP00000396270.2, ENST00000429989.8
      Conserved Domains (1) summary
      cd03159
      Location:113 → 233
      TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      80454310..80522631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      81323409..81391729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_120662.1: Suppressed sequence

      Description
      NR_120662.1: This RefSeq was removed because the gene was discontinued.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NG11.1 GenPept UniProtKB/Swiss-Prot:Q8NG11

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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