NLR Family, Caspase Recruitment Domain-Containing 3

Alternative Names

  • NLRC33
  • NLR Family, Card-Containing 3
  • Caterpiller 16.2
  • CLR16.2
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OMIM Number

615648

NCBI Gene ID

197358

Uniprot ID

Q7RTR2

Length

38,750 bases

No. of Exons

26

No. of isoforms

4

Protein Name

NLR family CARD domain-containing protein 3

Molecular Mass

114658 Da

Amino Acid Count

1065

Genomic Location

chr16:3,539,032-3,577,781

Gene Map Locus
16p13.3

Description

This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NG_033123.1:g.3166G>AUnited Arab EmiratesNC_000016.10:g.3579226C>TAssociationType 2 Diabetes Mellitus; ObesityNG_033123.1:g.3166G>A2077235
NM_178844.3:c.2401G>ALebanonNC_000016.10:g.3550448C>TUncertain SignificanceFamilial Mediterranean FeverNG_033123.1:g.31944G>A; NM_178844.3:c.2401G>A; NP_849172.2:p.Ala801Thr767176921
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