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    TSPAN32 tetraspanin 32 [ Homo sapiens (human) ]

    Gene ID: 10077, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TSPAN32provided by HGNC
    Official Full Name
    tetraspanin 32provided by HGNC
    Primary source
    HGNC:HGNC:13410
    See related
    Ensembl:ENSG00000064201 MIM:603853; AllianceGenome:HGNC:13410
    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
    ART1; PHMX; PHEMX; TSSC6
    Summary
    This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in bone marrow (RPKM 10.4), spleen (RPKM 4.1) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSPAN32 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2302013..2318204)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2391457..2407521)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2323243..2339434)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2198066-2198912 Neighboring gene microRNA 4686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2225905-2226503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2233643-2234213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2235935-2236495 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:2244593-2245167 Neighboring gene achaete-scute family bHLH transcription factor 2 Neighboring gene Sharpr-MPRA regulatory region 3604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2327147-2327814 Neighboring gene chromosome 11 open reading frame 21 Neighboring gene uncharacterized LOC124902612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2333788-2334393 Neighboring gene NANOG hESC enhancer GRCh37_chr11:2349809-2350310 Neighboring gene RNA, U6 small nuclear 878, pseudogene Neighboring gene CD81 antisense RNA 1 Neighboring gene ribosomal protein L26 pseudogene 30

    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 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. Altered Expression of TSPAN32 during B Cell Activation and Systemic Lupus Erythematosus. Fagone P, et al. Genes (Basel), 2021 Jun 18. PMID 34207245, Free PMC Article
    2. Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11. Koi M, et al. Science, 1993 Apr 16. PMID 8469989
    3. Modulation of Tetraspanin 32 (TSPAN32) Expression in T Cell-Mediated Immune Responses and in Multiple Sclerosis. Lombardo SD, et al. Int J Mol Sci, 2019 Sep 4. PMID 31487788, Free PMC Article
    4. Molecular characterisation of mouse and human TSSC6: evidence that TSSC6 is a genuine member of the tetraspanin superfamily and is expressed specifically in haematopoietic organs. Robb L, et al. Biochim Biophys Acta, 2001 Nov 11. PMID 11718897
    5. Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting. Lee MP, et al. Hum Mol Genet, 1999 Apr. PMID 10072438

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Altered Expression of TSPAN32 during B Cell Activation and Systemic Lupus Erythematosus.
      Title: Altered Expression of TSPAN32 during B Cell Activation and Systemic Lupus Erythematosus.
    2. TSPAN32 mRNA level is significantly reduced in CD4 T cells of multiple sclerosis patients.
      Title: Modulation of Tetraspanin 32 (TSPAN32) Expression in T Cell-Mediated Immune Responses and in Multiple Sclerosis.
    3. In the absence of both CD37 and Tssc6, immune function is further altered when compared with CD37- or Tssc6-deficient transgenic mice, demonstrating a complementary role for these two molecules in cellular immunity.
      Title: A complementary role for the tetraspanins CD37 and Tssc6 in cellular immunity.
    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
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    • D11S1318 (e-PCR), detects polymorphism

    Homology

    Clone Names

    • FLJ17158, FLJ97586, MGC22455

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of myeloid dendritic cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in platelet aggregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of vascular endothelial growth factor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of integrin alphaIIb-beta3 complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tetraspanin-32
    Names
    pan-hematopoietic expression protein
    protein Phemx
    tumor-suppressing STF cDNA 6
    tumor-suppressing subchromosomal transferable fragment cDNA 6
    tumor-suppressing subtransferable candidate 6

    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_139022.3 → NP_620591.3  tetraspanin-32

      See identical proteins and their annotated locations for NP_620591.3

      Status: REVIEWED

      Source sequence(s)
      AA701395, AC129929, AY039001, BG506933
      Consensus CDS
      CCDS7733.1
      UniProtKB/Swiss-Prot
      Q96KX4, Q96QS1, Q9HC50, Q9HC51, Q9Y5U1
      UniProtKB/TrEMBL
      D3YTD1
      Related
      ENSP00000182290.5, ENST00000182290.9
      Conserved Domains (2) summary
      cd03153
      Location:113 → 195
      PHEMX_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), PHEMX_like family. 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 ...
      pfam00335
      Location:11 → 223
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2302013..2318204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519822.2 → XP_011518124.1  tetraspanin-32 isoform X11

      Related
      ENSP00000370513.3, ENST00000381121.7
      Conserved Domains (2) summary
      cd03153
      Location:148 → 230
      PHEMX_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), PHEMX_like family. 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 ...
      pfam00335
      Location:46 → 258
      Tetraspannin; Tetraspanin family

    2. XM_011519818.4 → XP_011518120.4  tetraspanin-32 isoform X6

      Related
      ENSP00000482901.1, ENST00000612299.4

    3. XM_005252719.5 → XP_005252776.1  tetraspanin-32 isoform X2

      Conserved Domains (2) summary
      cd03153
      Location:148 → 230
      PHEMX_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), PHEMX_like family. 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 ...
      pfam00335
      Location:46 → 258
      Tetraspannin; Tetraspanin family

    4. XM_011519815.4 → XP_011518117.4  tetraspanin-32 isoform X5

    5. XM_005252720.5 → XP_005252777.1  tetraspanin-32 isoform X12

      UniProtKB/TrEMBL
      B4DQ90
      Conserved Domains (2) summary
      cd03153
      Location:148 → 217
      PHEMX_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), PHEMX_like family. 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 ...
      pfam00335
      Location:46 → 196
      Tetraspannin; Tetraspanin family

    6. XM_047426215.1 → XP_047282171.1  tetraspanin-32 isoform X16

      Related
      ENST00000461200.5

    7. XM_047426212.1 → XP_047282168.1  tetraspanin-32 isoform X14

    8. XM_047426209.1 → XP_047282165.1  tetraspanin-32 isoform X7

    9. XM_011519819.2 → XP_011518121.1  tetraspanin-32 isoform X7

      UniProtKB/TrEMBL
      D3YTD1
      Conserved Domains (2) summary
      cd03153
      Location:83 → 165
      PHEMX_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), PHEMX_like family. 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 ...
      pfam00335
      Location:36 → 193
      Tetraspannin; Tetraspanin family

    10. XM_017017065.2 → XP_016872554.1  tetraspanin-32 isoform X3

    11. XM_017017068.2 → XP_016872557.1  tetraspanin-32 isoform X8

    12. XM_017017064.2 → XP_016872553.1  tetraspanin-32 isoform X1

      Conserved Domains (1) summary
      cd03153
      Location:171 → 248
      PHEMX_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), PHEMX_like family. 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 ...

    13. XM_017017066.2 → XP_016872555.1  tetraspanin-32 isoform X4

    14. XM_047426210.1 → XP_047282166.1  tetraspanin-32 isoform X9

    15. XM_017017069.2 → XP_016872558.1  tetraspanin-32 isoform X10

    16. XM_047426213.1 → XP_047282169.1  tetraspanin-32 isoform X15

    17. XM_017017071.2 → XP_016872560.1  tetraspanin-32 isoform X15

    18. XM_047426211.1 → XP_047282167.1  tetraspanin-32 isoform X13

    19. XM_047426214.1 → XP_047282170.1  tetraspanin-32 isoform X15

    RNA

    1. XR_001747716.1 RNA Sequence

    2. XR_001747715.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2391457..2407521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367406.1 → XP_054223381.1  tetraspanin-32 isoform X11

    2. XM_054367400.1 → XP_054223375.1  tetraspanin-32 isoform X6

    3. XM_054367396.1 → XP_054223371.1  tetraspanin-32 isoform X2

    4. XM_054367399.1 → XP_054223374.1  tetraspanin-32 isoform X5

    5. XM_054367407.1 → XP_054223382.1  tetraspanin-32 isoform X12

    6. XM_054367413.1 → XP_054223388.1  tetraspanin-32 isoform X16

    7. XM_054367409.1 → XP_054223384.1  tetraspanin-32 isoform X14

    8. XM_054367401.1 → XP_054223376.1  tetraspanin-32 isoform X7

    9. XM_054367402.1 → XP_054223377.1  tetraspanin-32 isoform X7

    10. XM_054367397.1 → XP_054223372.1  tetraspanin-32 isoform X3

    11. XM_054367403.1 → XP_054223378.1  tetraspanin-32 isoform X8

    12. XM_054367395.1 → XP_054223370.1  tetraspanin-32 isoform X1

    13. XM_054367398.1 → XP_054223373.1  tetraspanin-32 isoform X4

    14. XM_054367404.1 → XP_054223379.1  tetraspanin-32 isoform X9

    15. XM_054367405.1 → XP_054223380.1  tetraspanin-32 isoform X10

    16. XM_054367410.1 → XP_054223385.1  tetraspanin-32 isoform X15

    17. XM_054367411.1 → XP_054223386.1  tetraspanin-32 isoform X15

    18. XM_054367408.1 → XP_054223383.1  tetraspanin-32 isoform X13

    19. XM_054367412.1 → XP_054223387.1  tetraspanin-32 isoform X15

    RNA

    1. XR_008488324.1 RNA Sequence

    2. XR_008488325.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005705.4: Suppressed sequence

      Description
      NM_005705.4: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NM_139024.3: Suppressed sequence

      Description
      NM_139024.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QS1.1 GenPept UniProtKB/Swiss-Prot:Q96QS1

    Gene LinkOut

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

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