Description

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

Synonyms

haemojuvelin, HFE2A, RGMC, JH, hemojuvelin, HJV

Location

Chromosome 1: 146,017,468-146,021,918 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 6 transcripts (splice variants), 59 orthologues, 2 paralogues, is a member of 2 Ensembl protein families and is associated with 5 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HFE2-001ENST000003367512234426aaENSP00000337014
 
Protein coding
CCDS72879A0A024R4F5 Q6ZVN8 NM_213653
NP_998818
TSL:2GENCODE basicAPPRIS P1
HFE2-002ENST000003578362123313aaENSP00000350495
 
Protein coding
CCDS72878A8K466 Q6ZVN8 NM_145277
NP_660320
TSL:1GENCODE basic
HFE2-003ENST000004973651419200aaENSP00000421820
 
Protein coding
CCDS72877Q6ZVN8 NM_202004
NP_973733
TSL:1GENCODE basic
HFE2-004ENST000004757971381200aaENSP00000425716
 
Protein coding
CCDS72877Q6ZVN8 NM_213652
NP_998817
TSL:2GENCODE basic
HFE2-005ENST0000042182253693aaENSP00000411863
 
Protein coding
-F8W6J7 -CDS 3' incompleteTSL:4
HFE2-006ENST0000063492750670aaENSP00000489347
 
Protein coding
---GENCODE basic

Gene-based displays