U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    TSPAN32 tetraspanin 32 [ Homo sapiens (human) ]

    Gene ID: 10077, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    • D11S1318 (e-PCR), detects polymorphism

    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

    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)

    NEW Try the new Transcript table

    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_139022.3NP_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:113195
      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:11223
      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_011519822.2XP_011518124.1  tetraspanin-32 isoform X11

      Related
      ENSP00000370513.3, ENST00000381121.7
      Conserved Domains (2) summary
      cd03153
      Location:148230
      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:46258
      Tetraspannin; Tetraspanin family
    2. XM_011519818.4XP_011518120.4  tetraspanin-32 isoform X6

      UniProtKB/TrEMBL
      G3XAG6
      Related
      ENSP00000482901.1, ENST00000612299.4
    3. XM_005252719.5XP_005252776.1  tetraspanin-32 isoform X2

      Conserved Domains (2) summary
      cd03153
      Location:148230
      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:46258
      Tetraspannin; Tetraspanin family
    4. XM_011519815.4XP_011518117.4  tetraspanin-32 isoform X5

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

      UniProtKB/TrEMBL
      B4DQ90
      Conserved Domains (2) summary
      cd03153
      Location:148217
      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:46196
      Tetraspannin; Tetraspanin family
    6. XM_047426215.1XP_047282171.1  tetraspanin-32 isoform X16

      Related
      ENST00000461200.5
    7. XM_047426212.1XP_047282168.1  tetraspanin-32 isoform X14

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

      UniProtKB/TrEMBL
      D3YTD1
    9. XM_011519819.2XP_011518121.1  tetraspanin-32 isoform X7

      UniProtKB/TrEMBL
      D3YTD1
      Conserved Domains (2) summary
      cd03153
      Location:83165
      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:36193
      Tetraspannin; Tetraspanin family
    10. XM_017017065.2XP_016872554.1  tetraspanin-32 isoform X3

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

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

      Conserved Domains (1) summary
      cd03153
      Location:171248
      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_017017066.2XP_016872555.1  tetraspanin-32 isoform X4

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

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

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

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

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

    19. XM_047426214.1XP_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_054367406.1XP_054223381.1  tetraspanin-32 isoform X11

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

      UniProtKB/TrEMBL
      G3XAG6
    3. XM_054367396.1XP_054223371.1  tetraspanin-32 isoform X2

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

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

      UniProtKB/TrEMBL
      B4DQ90
    6. XM_054367413.1XP_054223388.1  tetraspanin-32 isoform X16

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

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

      UniProtKB/TrEMBL
      D3YTD1
    9. XM_054367402.1XP_054223377.1  tetraspanin-32 isoform X7

      UniProtKB/TrEMBL
      D3YTD1
    10. XM_054367397.1XP_054223372.1  tetraspanin-32 isoform X3

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

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

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

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

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

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

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

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

    19. XM_054367412.1XP_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.