HFE2 Gene

Aliases
for HFE2 gene

Previous GC identifers: GC01U990224 GC01P143161 GC01P142902 GC01P144124 GC01P119377

Summaries
for HFE2 gene

Genomic Views
for HFE2 gene

RefSeq DNA sequence:

NC_000001.10  NC_018912.1  NT_167185.1  

SwitchGear Promoter luciferase reporter plasmid: HFE2 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HFE2

HFE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P145413:  view genomic region     (about GC identifiers)

Proteins
for HFE2 gene

Explore the universe of human proteins at neXtProt for HFE2: NX_Q6ZVN8

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for HFE2 (RGM-C/Hemojuvelin)
	Enzo Life Sciences proteins for HFE2
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate (see all 3): HFE2 OriGene Custom Protein Services for HFE2
	GenScript Custom Purified and Recombinant Proteins Services for HFE2
	Novus Biologicals HFE2 Protein Novus Biologicals HFE2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for HFE2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for HFE2 (RGM-C/Hemojuvelin)
	Browse OriGene Antibodies OriGene Custom Antibody Services for HFE2
	GenScript Custom Superior Antibodies Services for HFE2
	Novus Biologicals HFE2 Antibodies
	Search for Antibodies for HFE2 at Abcam
	Uscn Antibodies for HFE2
	ThermoFisher Antibodies for HFE2

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HFE2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HFE2

Protein Domains /
Families
for HFE2 gene

ProtoNet protein and cluster: Q6ZVN8

Function
for HFE2 gene

miRNA Products:		OriGene 3'-UTR Clone (see all 2): HFE2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HFE2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate HFE2:
		hsa-miR-1288
		SwitchGear 3'UTR luciferase reporter plasmid: HFE2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HFE2 (see all 7) OriGene shRNA RFP: HFE2 OriGene siRNA: HFE2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HFE2

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for HFE2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HFE2 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HFE2 (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): HFE2 (NM_213653)
		Sino Biological Human cDNA Clone for HFE2
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HFE2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HFE2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HFE2
		Search LifeMap BioReagents cell lines for HFE2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HFE2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

(inferred from 3 alleles) (MGI details for Hfe2)

Pathways & Interactions
for HFE2 gene

	Super-pathway	contained gene-specific pathways
1	Axon guidance	Axon guidance 1.00 Developmental Biology 0.69
2	Netrin-1 signaling	Netrin-1 signaling 1.00
3	Signaling by BMP	BMP receptor signaling 0.31

1 BioSystems Pathway for HFE2

BMP receptor signaling

3        Reactome Pathways for HFE2

	Developmental Biology
	Netrin-1 signaling
	Axon guidance

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

Drugs & Compounds
for HFE2 gene

Transcripts
for HFE2 gene

Expression
for HFE2 gene

HFE2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCATTAGCC

1 LifeMap In Vivo Development Anatomical Compartment/Cell
	Tissue Anatomical Compartment Cell			Category (developmental path)
	AdiposeInterscapular Brown Adipose Depot			Adipose
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HFE2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HFE2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HFE2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HFE2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HFE2

Orthologs
for HFE2 gene

Paralogs
for HFE2 gene

Paralogs for HFE2 gene

RGMA²  RGMB²  

2 SIMAP similar genes for HFE2 using alignment to 3 protein entries:     RGMC_HUMAN (see all proteins):

RGMB    RGMA

HFE2 for paralogs           About GeneDecksing

Genomic Variants
for HFE2 gene

10/111 NCBI SNPs in HFE2 are shown (see all 111)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs743153271,2	C	pathogenic	145415483(+)	GGACCC/TCGCCT	10	P L	int1 ut51 mis1		0	--	--	--	--
rs743153241,2	C	pathogenic	145416631(+)	GTCAGC/TGACTC	16	R *	stg1		0	--	--	--	--
rs1422023221,2		--	145411254(+)	TATATA/TTGACA	4	--	us2k1		0	--	--	--	--
rs8638501,2	C,F,H,	--	145411294(+)	GAGTGC/TTATGA	4	--	us2k1		20		NA EA NS WA	2524
rs1875705201,2		--	145411311(+)	CTAGAC/TTCTGT	4	--	us2k1		0	--	--	--	--
rs120647881,2		--	145411401(+)	gatacA/Gaagta	4	--	us2k1		2		NA	4
rs1401253671,2		--	145411443(+)	CAAAAG/TAAATT	4	--	us2k1		0	--	--	--	--
rs18308221,2	C	--	145411556(+)	aatatG/Aaaagg	4	--	us2k1 tfbs3 trp3		1		NA	2
rs18308231,2	C,F,A,	--	145411572(+)	CTGGCC/ATAGCC	4	--	us2k1		3		NA	6
rs18308241,2	C,	--	145411715(+)	GTGATC/TGTGTA	4	--	us2k1		6		NA CSA WA EA	363

HapMap Linkage Disequilibrium report for HFE2 (145413095 - 145417545 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for HFE2
     5 CNVs: 2324 5199 53561 4252 3310
Human Gene Mutation Database (HGMD): HFE2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HFE2

DNA2.0 Custom Variant and Variant Library Synthesis for HFE2

Disorders / Diseases
for HFE2 gene

20/23 diseases for HFE2

10/12 Novoseek disease relationships for HFE2 gene (see all 12)    About this table

Publications
for HFE2 gene

PubMed articles for HFE2 gene, integrated from 9 sources (see all 164): (articles sorted by number of sources associating them with HFE2)

Utopia: connect your pdf to the dynamic world of online information

1. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. (PubMed id 14647275)^{1, 2, 3, 9} Papanikolaou G....Goldberg Y.P. (2004)
2. Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. (PubMed id 15461631)^{1, 2, 9} Lee P.L.... Beutler E. (2004)
3. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. (PubMed id 14982867)^{1, 2, 9} Lee P.L.... Barton J.C. (2004)
4. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. (PubMed id 15254010)^{1, 4, 9} Le Gac G....Ferec C. (2004)
5. Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. (PubMed id 15610558)^{1, 4, 9} Barton J.C....Acton R.T. (2004)
6. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. (PubMed id 14982873)^{1, 2, 9} Lanzara C.... Camaschella C. (2004)
7. Molecular mechanisms of the defective hepcidin inhibi tion in TMPRSS6 mutations associated with iron-refractory iron deficiency anemi a. (PubMed id 19357398)^{1, 2, 9} Silvestri L....Grandchamp B. (2009)
8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
9. Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. (PubMed id 15194541)^{1, 4} Pissia M....Papanikolaou G. (2004)
10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

External Searches for HFE2 gene

Genome Databases showing HFE2 gene

Other Databases showing HFE2 gene

Specialized Databases showing HFE2 gene

Products
for HFE2 gene