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    THSD7B thrombospondin type 1 domain containing 7B [ Homo sapiens (human) ]

    Gene ID: 80731, updated on 17-Sep-2024

    Summary

    Official Symbol
    THSD7Bprovided by HGNC
    Official Full Name
    thrombospondin type 1 domain containing 7Bprovided by HGNC
    Primary source
    HGNC:HGNC:29348
    See related
    Ensembl:ENSG00000144229 AllianceGenome:HGNC:29348
    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
    Summary
    Predicted to be involved in actin cytoskeleton reorganization. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in fat (RPKM 1.4), thyroid (RPKM 0.5) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See THSD7B in Genome Data Viewer
    Location:
    2q22.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (136765545..137677718)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (137211511..138123604)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (137523115..138435288)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:137165304-137165804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:137165805-137166305 Neighboring gene RN7SK pseudogene 141 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:137240685-137240943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16591 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:137267551-137268375 Neighboring gene NANOG hESC enhancer GRCh37_chr2:137275190-137275696 Neighboring gene MPRA-validated peak3883 silencer Neighboring gene uncharacterized LOC105373633 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:137303752-137303922 Neighboring gene structural maintenance of chromosomes 4 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:137523097-137523598 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:137605714-137605949 Neighboring gene Sharpr-MPRA regulatory region 1885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:138072328-138072828 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:138155943-138156474 Neighboring gene uncharacterized LOC105373634 Neighboring gene RNA, 5S ribosomal pseudogene 105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:138464785-138465284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:138465941-138466440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16592 Neighboring gene uncharacterized LOC101928273 Neighboring gene uncharacterized LOC107985948 Neighboring gene histamine N-methyltransferase

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of third molar agenesis in Japanese and Korean populations.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study of liver enzymes in korean children.
    EBI GWAS Catalog
    Genome-wide association study of pancreatic cancer in Japanese population.
    EBI GWAS Catalog
    Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.
    EBI GWAS Catalog
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1679

    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 actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    thrombospondin type-1 domain-containing protein 7B
    Names
    thrombospondin, type I, domain containing 7B

    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_001316349.2NP_001303278.1  thrombospondin type-1 domain-containing protein 7B precursor

      Status: VALIDATED

      Source sequence(s)
      AC010100, AC010873, AC011231, AC012000, AC016679, AC017082, AC019067
      Consensus CDS
      CCDS82515.1
      UniProtKB/Swiss-Prot
      E7EM75, Q9C0I4
      Related
      ENSP00000387145.1, ENST00000409968.6
      Conserved Domains (2) summary
      smart00209
      Location:12511301
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:340388
      TSP_1; Thrombospondin type 1 domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      136765545..137677718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445935.1XP_047301891.1  thrombospondin type-1 domain-containing protein 7B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      137211511..138123604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344075.1XP_054200050.1  thrombospondin type-1 domain-containing protein 7B isoform X1

    2. XM_054344076.1XP_054200051.1  thrombospondin type-1 domain-containing protein 7B isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080427.1: Suppressed sequence

      Description
      NM_001080427.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.