Description

hemochromatosis type 2 (juvenile) [Source:HGNC Symbol;Acc:HGNC:4887]

Synonyms

haemojuvelin, hemojuvelin, HFE2A, HJV, JH, RGMC

INSDC coordinates

chromosome:GRCh38:CM000663.2:146017468:146021918:1

About this gene

This gene has 5 transcripts (splice variants), 58 orthologues, 2 paralogues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HFE2-001ENST000003367512128426aaENSP00000337014
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS72879A0A024R4F5 Q6ZVN8 NM_213653
NP_998818
TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

HFE2-002ENST000003578362123313aaENSP00000350495
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS72878A8K466 Q6ZVN8 NM_145277
NP_660320
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE2-003ENST000004973651419200aaENSP00000421820
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS72877Q6ZVN8 NM_202004
NP_973733
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE2-004ENST000004757971381200aaENSP00000425716
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS72877Q6ZVN8 NM_213652
NP_998817
TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HFE2-005ENST0000042182253693aaENSP00000411863
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-F8W6J7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

Transcript Support Level 4, for transcripts supported by an EST flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays