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HNF4A (NM_000457) - hepatocyte nuclear factor 4 alpha

Hepatocyte Nuclear Factor 4-Alpha Isoform 2

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of HNF4A protein. View all 10 isoforms
HNF4A: hepatocyte nuclear factor 4-alpha isoform 2
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. [provided by RefSeq, Apr 2012].

Strand
+
Chromosome
20
Protein
474 residues
All mutations
139
PTM sites
37
CDS
43,030,012 - 43,058,305
Transcription
43,029,895 - 43,061,485
43.25% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 3172
UniProt
Ensembl