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Hjv Gene Detail
Summary
  • Symbol
    Hjv
  • Name
    hemojuvelin BMP co-receptor
  • Synonyms
    2310035L15Rik, 5230400G09Rik, DL-M, hemojuvelin, Hfe2, HJV, Rgmc
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916835
    NCBI Gene: 69585
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:96432488-96436526 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 41.91 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    143 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916835
 protein coding gene Chr3:96432479-96436532 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027618
 protein coding gene Chr3:97399661-97404989 (+)
A/J MGP_AJ_G0027580
 protein coding gene Chr3:94286602-94290602 (+)
AKR/J MGP_AKRJ_G0027547
 protein coding gene Chr3:96507311-96512329 (+)
BALB/cJ MGP_BALBcJ_G0027590
 protein coding gene Chr3:94097325-94101368 (+)
C3H/HeJ MGP_C3HHeJ_G0027322
 protein coding gene Chr3:96808165-96812199 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028036
 protein coding gene Chr3:100953662-100959314 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025377
 protein coding gene Chr3:90559061-90563034 (+)
CAST/EiJ MGP_CASTEiJ_G0026777
 protein coding gene Chr3:96066977-96071635 (+)
CBA/J MGP_CBAJ_G0027297
 protein coding gene Chr3:104642112-104646144 (+)
DBA/2J MGP_DBA2J_G0027440
 protein coding gene Chr3:93620077-93624119 (+)
FVB/NJ MGP_FVBNJ_G0027409
 protein coding gene Chr3:91629747-91633748 (+)
LP/J MGP_LPJ_G0027545
 protein coding gene Chr3:98685340-98689343 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027435
 protein coding gene Chr3:110725170-110729261 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028090
 protein coding gene Chr3:96124375-96129462 (+)
PWK/PhJ MGP_PWKPhJ_G0026502
 protein coding gene Chr3:93451774-93456360 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026324
 protein coding gene Chr3:94426732-94431718 (+)
WSB/EiJ MGP_WSBEiJ_G0026855
 protein coding gene Chr3:96565898-96569914 (+)



Homology
more
  • Human Ortholog
    HJV, hemojuvelin BMP co-receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HJV, hemojuvelin BMP co-receptor
  • Synonyms
    HFE2, HFE2A, JH, RGMC
  • Links
    NCBI Gene ID: 148738
    neXtProt AC: NX_Q6ZVN8
    UniProt: Q6ZVN8

  • Chr Location
    1q21.1; chr1:146017468-146036746 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hjv mouse models; 2 with human HJV associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 5 alleles in 8 genetic backgrounds
    17 phenotypes from multigenic genotypes
    2 images
    49 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit lack of hepcidin expression, severe iron overload and male sterility. Mice homozygous for a different knock-out allele display systemic iron overload, a severe deficit in hepcidin production, overexpression of ferroportin but normal male fertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    15
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    780
  • Tissues
    51
  • cDNA Data
    20
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038403 Ensembl Gene Model | MGI Sequence Detail 4039 C57BL/6J ±  kb
    transcript ENSMUST00000049208 Ensembl | MGI Sequence Detail 2028 Not Applicable  
    polypeptide ENSMUSP00000046659 Ensembl | MGI Sequence Detail 420 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 20
      Primer pair 2
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1914041, MGI:2139694, MGI:2139795, MGI:6276239
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 13
      Diseases 3
      Gene Ontology 15
      Phenotypes 49
    • Earliest
      J:18891 Ramamoorthy S, et al., Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. Biochem J. 1994 Jun 15;300(Pt 3):893-900
    • Latest
      J:349512 Wang XF, et al., The liver and muscle secreted HFE2-protein maintains central nervous system blood vessel integrity. Nat Commun. 2024 Feb 3;15(1):1037
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory