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

    Gene ID: 80731, updated on 10-Dec-2024

    Summary

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    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 organization. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in fat (RPKM 1.4), thyroid (RPKM 0.5) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    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

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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. THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients. Yao Z, et al. Drug Des Devel Ther, 2022. PMID 35685767, Free PMC Article
    2. A genome-wide association study of third molar agenesis in Japanese and Korean populations. Haga S, et al. J Hum Genet, 2013 Dec. PMID 24172245
    3. A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. Wang KS, et al. J Psychiatr Res, 2011 Nov. PMID 21703634
    4. 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. Yazar S, et al. Mol Vis, 2013. PMID 23761726, Free PMC Article
    5. Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. Lee Y, et al. Carcinogenesis, 2013 Feb. PMID 23144319

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients.
      Title: THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients.
    2. Several flanking SNPs of the top hits in the meta-analysis demonstrated borderline associations with alcohol dependence in the family sample for KIAA0040, NRD1 and THSD7B, respectively.
      Title: A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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 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

    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

    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

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

    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_001316349.2 → NP_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:1251 → 1301
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:340 → 388
      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_047445935.1 → XP_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_054344075.1 → XP_054200050.1  thrombospondin type-1 domain-containing protein 7B isoform X1

    2. XM_054344076.1 → XP_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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0I4.3 GenPept UniProtKB/Swiss-Prot:Q9C0I4

    Gene LinkOut

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

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