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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

 6
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (heart muscle, liver, skeletal muscle)
GTEx:Group enriched (liver, skeletal muscle)
FANTOM5:Group enriched (liver, skeletal muscle)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
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
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, liver, skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, skeletal muscle)

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. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. 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, Oct 2015]

Chromosome

 1

Cytoband

 q21.1

Chromosome location (bp)

 146017468 - 146021918

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000168509 (version 83.38)

Entrez gene

 148738

UniProt

 Q6ZVN8 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6ZVN8

Antibodypedia

 HFE2 antibodies

PROTEIN BROWSER
HFE2-001
HFE2-002
HFE2-003
HFE2-004
HFE2-005
HFE2-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HFE2-001
ENSP00000337014
ENST00000336751
Q6ZVN8 [Direct mapping]
Hemojuvelin
A0A024R4F5 [Target identity:100%; Query identity:100%]
Hemochromatosis type 2 (Juvenile), isoform CRA_b
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001948 [glycoprotein binding]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005886 [plasma membrane]
GO:0006879 [cellular iron ion homeostasis]
GO:0007411 [axon guidance]
GO:0009986 [cell surface]
GO:0015026 [coreceptor activity]
GO:0016323 [basolateral plasma membrane]
GO:0016540 [protein autoprocessing]
GO:0030509 [BMP signaling pathway]
GO:0030514 [negative regulation of BMP signaling pathway]
GO:0031225 [anchored component of membrane]
GO:0032924 [activin receptor signaling pathway]
GO:0036122 [BMP binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0055072 [iron ion homeostasis]
GO:0070724 [BMP receptor complex]
GO:0071773 [cellular response to BMP stimulus]
GO:0098797 [plasma membrane protein complex]
GO:0098821 [BMP receptor activity]
GO:1990459 [transferrin receptor binding]
GO:1990712 [HFE-transferrin receptor complex]
Show all
 426 aa
45.1 kDa 		Yes 1
HFE2-002
ENSP00000350495
ENST00000357836
Q6ZVN8 [Direct mapping]
Hemojuvelin
A8K466 [Target identity:100%; Query identity:100%]
Hemochromatosis type 2 (Juvenile); cDNA FLJ75358, highly similar to Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant b, mRNA; cDNA, FLJ79501, highly similar to Hemojuvelin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001948 [glycoprotein binding]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005886 [plasma membrane]
GO:0006879 [cellular iron ion homeostasis]
GO:0007411 [axon guidance]
GO:0015026 [coreceptor activity]
GO:0016540 [protein autoprocessing]
GO:0030509 [BMP signaling pathway]
GO:0031225 [anchored component of membrane]
GO:0032924 [activin receptor signaling pathway]
GO:0036122 [BMP binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0055072 [iron ion homeostasis]
GO:0070724 [BMP receptor complex]
GO:0071773 [cellular response to BMP stimulus]
GO:0098797 [plasma membrane protein complex]
GO:0098821 [BMP receptor activity]
GO:1990459 [transferrin receptor binding]
GO:1990712 [HFE-transferrin receptor complex]
Show all
 313 aa
33.7 kDa 		No 1
HFE2-003
ENSP00000421820
ENST00000497365
Q6ZVN8 [Direct mapping]
Hemojuvelin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001948 [glycoprotein binding]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005886 [plasma membrane]
GO:0006879 [cellular iron ion homeostasis]
GO:0007411 [axon guidance]
GO:0015026 [coreceptor activity]
GO:0016540 [protein autoprocessing]
GO:0030509 [BMP signaling pathway]
GO:0031225 [anchored component of membrane]
GO:0032924 [activin receptor signaling pathway]
GO:0036122 [BMP binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0055072 [iron ion homeostasis]
GO:0070724 [BMP receptor complex]
GO:0071773 [cellular response to BMP stimulus]
GO:0098797 [plasma membrane protein complex]
GO:0098821 [BMP receptor activity]
GO:1990459 [transferrin receptor binding]
GO:1990712 [HFE-transferrin receptor complex]
Show all
 200 aa
21.5 kDa 		No 1
HFE2-004
ENSP00000425716
ENST00000475797
Q6ZVN8 [Direct mapping]
Hemojuvelin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001948 [glycoprotein binding]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005886 [plasma membrane]
GO:0006879 [cellular iron ion homeostasis]
GO:0007411 [axon guidance]
GO:0015026 [coreceptor activity]
GO:0016540 [protein autoprocessing]
GO:0030509 [BMP signaling pathway]
GO:0031225 [anchored component of membrane]
GO:0032924 [activin receptor signaling pathway]
GO:0036122 [BMP binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0055072 [iron ion homeostasis]
GO:0070724 [BMP receptor complex]
GO:0071773 [cellular response to BMP stimulus]
GO:0098797 [plasma membrane protein complex]
GO:0098821 [BMP receptor activity]
GO:1990459 [transferrin receptor binding]
GO:1990712 [HFE-transferrin receptor complex]
Show all
 200 aa
21.5 kDa 		No 1
HFE2-005
ENSP00000411863
ENST00000421822
F8W6J7 [Direct mapping]
Hemojuvelin
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Show all
GO:0015026 [coreceptor activity]
GO:0030509 [BMP signaling pathway]
Show all
 93 aa
9.3 kDa 		Yes 0
HFE2-006
ENSP00000489347
ENST00000634927
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Show all
 70 aa
7.8 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.