SH2B Adaptor Protein 3

Alternative Names

  • SH2B3
  • Lymphocyte Adaptor Protein
  • LNK
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OMIM Number

605093

NCBI Gene ID

10019

Uniprot ID

Q9UQQ2

Length

46,517 bases

No. of Exons

12

No. of isoforms

1

Protein Name

SH2B adapter protein 3

Molecular Mass

63225 Da

Amino Acid Count

575

Genomic Location

chr12:111,405,106-111,451,622

Gene Map Locus
12q24.12

Description

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002973.4:c.252-14033G>CLebanonNC_000012.12:g.111569952C>GBenignNG_011572.3:g.34725G>C; NM_002973.4:c.252-14033G>C653178
NM_005475.3:c.784T>ALebanonNC_000012.12:g.111446804T>ABenignNG_021216.1:g.45857T>A; NM_005475.3:c.784T>A; NP_001278353.1:p.Trp60Arg3184504
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