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

Gene ID: 80731, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in fat (RPKM 1.4), thyroid (RPKM 0.5) and 11 other tissues See more
Orthologs
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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 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)

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

  • 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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