HFE2

GENERAL INFORMATION

? »

Gene name

HFE2

Gene description

Hemochromatosis type 2 (juvenile)

Protein class

Disease related genes
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Membrane,Secreted

Number of transcripts

5
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Group enriched (heart muscle, liver, skeletal muscle)
GTEx:Tissue enhanced (liver, skeletal muscle)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

? »

Data reliability

Pending normal tissue annotation.
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

? »
Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Group enriched (heart muscle, liver, skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (liver, skeletal muscle)

Organ

Expression



GENE INFORMATION

? »

Gene name

HFE2 (HGNC Symbol)

Synonyms

haemojuvelin, hemojuvelin, HFE2A, HJV, JH, RGMC

Description

Hemochromatosis type 2 (juvenile) (HGNC Symbol)

Entrez gene summary

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

q21.1

Chromosome location (bp)

146017468 - 146021918

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000168509 (version 78.38)

Entrez gene

148738

UniProt

Q6ZVN8 (UniProt - Evidence at protein level)

neXtProt

NX_Q6ZVN8

Antibodypedia

HFE2 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000336751
 
ENST00000357836
 
ENST00000421822
 
ENST00000475797
 
ENST00000497365
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HFE2-001 ENSP00000337014
ENST00000336751
Q6ZVN8
Show all »
Show » Show » 426 45.1 Yes 1
HFE2-002 ENSP00000350495
ENST00000357836
Q6ZVN8
Show all »
Show » Show » 313 33.7 No 1
HFE2-003 ENSP00000421820
ENST00000497365
Q6ZVN8
Show all »
Show » Show » 200 21.5 No 1
HFE2-004 ENSP00000425716
ENST00000475797
Q6ZVN8
Show all »
Show » Show » 200 21.5 No 1
HFE2-005 ENSP00000411863
ENST00000421822
F8W6J7
Show all »
Show » 93 9.3 Yes 0