Hepatocyte Nuclear Factor 4-Alpha

Alternative Names

  • HNF4A
  • HNF4-Alpha
  • Hepatocyte Nuclear Factor 4
  • HNF4
  • Transcription Factor 14, Hepatic Nuclear Factor
  • TCF14

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

600281

NCBI Gene ID

3172

Uniprot ID

P41235

Length

78,898 bases

No. of Exons

15

No. of isoforms

7

Protein Name

Hepatocyte nuclear factor 4-alpha

Molecular Mass

52785 Da

Amino Acid Count

474

Genomic Location

chr20:44,355,699-44,434,596

Gene Map Locus
20q13.12

Description

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_175914.5:c.1012C>GQatarNC_000020.11:g.44424203C>GUncertain SignificanceType 2 Diabetes MellitusNG_009818.1:g.73403C>G; NM_175914.5:c.1012C>G; NP_787110.2:p.Leu338Val776656815
NM_175914.5:c.1144G>AQatarNC_000020.11:g.44428415G>AUncertain SignificanceUncertain SignificanceType 2 Diabetes MellitusNG_009818.1:g.77615G>A; NM_175914.5:c.1144G>A; NP_787110.2:p.Val382Ile3771510671338590
NM_175914.5:c.644T>CQatarNC_000020.11:g.44418486T>CUncertain SignificanceType 2 Diabetes MellitusNG_009818.1:g.67686T>C; NM_175914.5:c.644T>C; NP_787110.2:p.Met215Thr
NM_175914.5:c.863G>AQatarNC_000020.11:g.44424054G>AUncertain SignificanceUncertain SignificanceType 2 Diabetes MellitusNG_009818.1:g.73254G>A; NM_175914.5:c.863G>A; NP_787110.2:p.Arg288Gln371124358632373
NM_175914.5:c.868C>TQatarNC_000020.11:g.44424059C>TLikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicType 2 Diabetes MellitusNG_009818.1:g.73259C>T; NM_175914.5:c.868C>T; NP_787110.2:p.Arg290Cys1555817727447524
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