Gene

hjv

ID
ZDB-GENE-030131-651
Name
hemojuvelin BMP co-receptor
Symbol
hjv Nomenclature History
Previous Names
  • hjv (1)
  • DL-M (1)
  • hemojuvelin (1)
  • HFE2 (1)
  • hfe2
  • id:ibd3464 (1)
  • RGMC (1)
  • wu:fb38f10 (1)
  • zgc:136698 (1)
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Predicted to enable coreceptor activity. Acts upstream of or within notochord development and somite development. Predicted to be located in side of membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including axial chorda mesoderm; liver; muscle; notochord; and telencephalon. Human ortholog(s) of this gene implicated in hemochromatosis and hemochromatosis type 2A. Orthologous to human HJV (hemojuvelin BMP co-receptor).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Gibert et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
la019797TgTransgenic insertionUnknownUnknownDNA
1 - 1 of 1
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-hjvN/AGibert et al., 2011
MO2-hjvN/AGibert et al., 2011
1 - 2 of 2
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Human Disease
Associated With hjv Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hemochromatosis type 2A Alliance Hemochromatosis, type 2A 602390
1 - 1 of 1
Associated With hjv Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR009496 Repulsive guidance molecule, C-terminal
Domain IPR010536 Repulsive guidance molecule, N-terminal
Family IPR040287 Repulsive guidance molecule
1 - 3 of 3
Domain Details Per Protein
Protein Length Repulsive guidance molecule Repulsive guidance molecule, C-terminal Repulsive guidance molecule, N-terminal
UniProtKB:Q1JQE7 410
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 16
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript hjv-202 (1) Ensembl 520 nt
mRNA hjv-201 (1) Ensembl 1,811 nt
1 - 2 of 2
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(hjv:amfra-MYC)
  • hjv
  • Danio rerio
1Chen et al., 2014
Tg(hjv:dnamfra-MYC)
  • hjv
  • Danio rerio
1Chen et al., 2014
Tg(hjv:GFP)
  • hjv
  • Danio rerio
1 (4)
1 - 3 of 3
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-181D19ZFIN Curated Data
EncodesESTfb38f10
EncodesESTibd3464Samad et al., 2004
EncodescDNAMGC:136698ZFIN Curated Data
EncodescDNAMGC:162101ZFIN Curated Data
EncodescDNAMGC:193519ZFIN Curated Data
1 - 6 of 6
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanHJV1
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MouseHjv3
Amino acid sequence comparison (3)
Conserved genome location (synteny) (1)
Citations
1 - 10 of 12
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