Cell atlas - HFE2 - The Human Protein Atlas

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HFE2

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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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
Summary
RNA cell category	Cell line enhanced (K-562)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (K-562) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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

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The Project

The Human Protein Atlas

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