Transforming Growth Factor-Beta Receptor, Type III

Alternative Names

  • TGFBR3
  • Beta-Glycan
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OMIM Number

600742

NCBI Gene ID

7049

Uniprot ID

Q03167

Length

225,660 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Transforming growth factor beta receptor type 3

Molecular Mass

93499 Da

Amino Acid Count

851

Genomic Location

chr1:91,680,342-91,906,001

Gene Map Locus
1p22.1

Description

This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003243.5:c.247-13603_247-13586dupUnited Arab EmiratesNC_000001.11:g.91772339_91772356dupNG_027757.1:g.138650_138667dup; NM_003243.5:c.247-13603_247-13586dup; NP_003234.2:p.?17878444
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