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Heph Gene Detail
Summary
  • Symbol
    Heph
  • Name
    hephaestin
  • Synonyms
    C130006F04Rik, Cpl, mKIAA0698, sex linked anemia, sla
  • Feature Type
    protein coding gene
  • IDs
    MGI:1332240
    NCBI Gene: 15203
Location & Maps
more
  • Sequence Map
    ChrX:96455359-96574485 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      119127 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 42.69 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    HEPH, hephaestin
  • Vertebrate Orthologs
    8
  • Human Ortholog
    HEPH, hephaestin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CPL
  • Links
    NCBI Gene ID: 9843
    neXtProt AC: NX_Q9BQS7

  • Chr Location
    Xq11-q12; chrX:66162519-66267389 (+)  GRCh38.p2

Human Diseases
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  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 4 alleles in 7 genetic backgrounds
    20 phenotypes from multigenic genotypes
    3 images
    29 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.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Radiation induced
    1
  • Targeted
    4
  • Incidental Mutations
Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018531 VEGA Gene Model | MGI Sequence Detail 119127 C57BL/6J ±  kb
transcript OTTMUST00000044663 VEGA | MGI Sequence Detail 4743 Not Applicable  
polypeptide OTTMUSP00000020087 VEGA | MGI Sequence Detail 1157 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    191 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 48
    Genomic 1
    cDNA 47

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-14436, MGI:2445196, MGI:98315
References
more
  • Summaries
    All 57
    Diseases 2
    Gene Ontology 7
    Phenotypes 29
  • Earliest
    J:14 Falconer DS, et al., The genetics of sex-linked anaemia in the mouse. Genet Res. 1962;3:248-50
  • Latest
    J:230844 Theurl M, et al., Mice with hepcidin-resistant ferroportin accumulate iron in the retina. FASEB J. 2016 Feb;30(2):813-23

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory