Gene: HFE ENSG00000010704

Description

hemochromatosis [Source:HGNC Symbol;Acc:4886]

Gene Synonyms

HFE1, HH, HLA-H, HLAH, MVCD7, TFQTL2

Location

Chromosome 6: 26,087,509-26,098,571 forward strand.

GRCh37:CM000668.1

About this gene

This gene has 14 transcripts (splice variants), 9 paralogues and is associated with 10 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000357618.5	HFE-001	5286	348aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4578	F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 I1VA72 Q30201 Q86WL1 Q8MH46 Q9BXI5 Q9UK37	NM_139006.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000317896.7	HFE-006	1922	256aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4579	F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 Q30201 Q8MH46 Q9BXI5 Q9UK37	NM_139004.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000349999.4	HFE-004	1704	260aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4580	G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA60 I1VA63 I1VA66 I1VA72 Q30201 Q8MH46 Q9BXI5 Q9UK37	NM_139008.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000397022.3	HFE-005	1280	325aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47387	G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 I1VA72 Q30201 Q86WL1 Q8MH46 Q9BXI5 Q9UK37	NM_139009.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000309234.6	HFE-019	1158	337aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5B2M9 F8W7W8 G3LGQ6 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 I1VA72 Q8MH46 Q9BXI5 Q9UK37	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000470149.1	HFE-011	1123	345aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA72 Q6B0J5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000461397.1	HFE-014	1045	334aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54974	F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA72 Q30201	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000353147.5	HFE-007	809	168aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4581	G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA60 I1VA63 I1VA66 Q30201 Q8MH46 Q9BXI5 Q9UK37	NM_139010.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000336625.8	HFE-012	804	242aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47386	F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 Q30201	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000488199.1	HFE-015	781	246aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54975	G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA72 Q30201	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000485729.1	HFE-024	777	55aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H7C4K4	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000352392.4	HFE-003	653	76aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4582	H2E8T5 Q30201	NM_139011.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000483782.1	HFE-017	1245	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000486147.1	HFE-013	987	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

HFE (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q30201

CCDS

This gene is a member of the Human CCDS set: CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1

Ensembl version

ENSG00000010704.14

Other assemblies

This gene maps to 26,087,281-26,098,343 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000016348 (version 3)

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Gene: HFE ENSG00000010704

Summary