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

Gene ID: 80731, updated on 7-Jun-2020

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
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
Expression
Biased expression in fat (RPKM 1.4), thyroid (RPKM 0.5) and 11 other tissues See more
Orthologs

Genomic context

See THSD7B in Genome Data Viewer
Location:
2q22.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (136765545..137677718)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (137639718..138435287)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 141 Neighboring gene uncharacterized LOC105373633 Neighboring gene structural maintenance of chromosomes 4 pseudogene 1 Neighboring gene uncharacterized LOC105373634 Neighboring gene RNA, 5S ribosomal pseudogene 105 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
  • 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

NHGRI GWAS Catalog

Description
A genome-wide association study of third molar agenesis in Japanese and Korean populations.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study of liver enzymes in korean children.
NHGRI GWA Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
NHGRI GWA 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.
NHGRI GWA Catalog
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1679

Gene Ontology Provided by GOA

Process Evidence Code Pubs
actin cytoskeleton reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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/TrEMBL
    E7EM75
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017005049.1XP_016860538.1  thrombospondin type-1 domain-containing protein 7B isoform X1

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.
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