Set Domain-Containing Protein 5

Alternative Names

  • SETD5
  • KIAA1757
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OMIM Number

615743

NCBI Gene ID

55209

Uniprot ID

Q9C0A6

Length

80,540 bases

No. of Exons

36

No. of isoforms

3

Protein Name

Histone-lysine N-methyltransferase SETD5

Molecular Mass

157515 Da

Amino Acid Count

1442

Genomic Location

chr3:9,397,614-9,478,153

Gene Map Locus
3p25.3

Description

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001080517.2:c.2347-7A>GUnited Arab EmiratesNC_000003.12:g.9453732A>GPathogenicPathogenicMental Retardation, Autosomal Dominant 23NG_034132.1:g.61033A>G; NM_001080517.2:c.2347-7A>G; NP_001073986.1:p.?886041593280376
NM_001080517.3:c.3196-64G>AUnited Arab EmiratesNC_000003.12:g.9473172G>ABenignNG_034132.1:g.80473G>A; NM_001080517.3:c.3196-64G>A; NP_001073986.1:p.?39158441282931
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