Gene: HFE2 ENSG00000168509

Description

hemochromatosis type 2 (juvenile) [Source:HGNC Symbol;Acc:4887]

Gene Synonyms

HFE2A, HJV, JH, RGMC, haemojuvelin, hemojuvelin

Location

GRCh37:CM000663.1

View alleles of this gene on alternative sequences

About this gene

This gene has 5 transcripts (splice variants), 1 gene allele, 2 paralogues and is associated with 3 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000336751.5	HFE2-001	2128	426aa	ENSP00000337014.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS910	A8K466 F8W6J7 Q6ZVN8	NM_213653.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000357836.5	HFE2-002	2123	313aa	ENSP00000350495.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS911	A8K466 Q6ZVN8	NM_145277.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000497365.1	HFE2-003	1419	200aa	ENSP00000421820.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS912	Q6ZVN8	NM_202004.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475797.1	HFE2-004	1381	200aa	ENSP00000425716.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS912	Q6ZVN8	NM_213652.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000421822.2	HFE2-005	536	93aa	ENSP00000411863.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8W6J7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Summary