Shroom Family Member 3

Alternative Names

  • SHROOM3
  • Shroom, Mouse, Homolog of
  • SHRM
  • KIAA1481
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OMIM Number

604570

NCBI Gene ID

57619

Uniprot ID

Q8TF72

Length

348,025 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Protein Shroom3

Molecular Mass

216857 Da

Amino Acid Count

1996

Genomic Location

chr4:76,435,228-76,783,252

Gene Map Locus
4q21.1

Description

This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020859.3:c.168+40642A>GUnited Arab EmiratesNC_000004.12:g.76476862A>GNG_028077.1:g.46763A>G; NM_020859.3:c.168+40642A>G; NP_065910.3:p.?10032549
NM_020859.3:c.168+52945C>AUnited Arab EmiratesNC_000004.12:g.76489165C>AAssociationMicrovascular Complications of Diabetes, Susceptibility to, 1NG_028077.1:g.59066C>A; NM_020859.3:c.168+52945C>A; NP_065910.3:p.?4859682
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