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
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000357618.5 | HFE-001 | 5286 | 348aa | ENSP00000417404.1 | 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 | ENSP00000313776.7 | 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 | ENSP00000259699.6 | 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 | ENSP00000380217.3 | 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 | ENSP00000311698.6 | 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 | ENSP00000419725.1 | 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 | ENSP00000420802.1 | 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 | ENSP00000312342.5 | 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 | ENSP00000337819.8 | 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 | ENSP00000420559.1 | 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 | ENSP00000417534.1 | 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 | ENSP00000315936.4 | 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 | - | - | - |
