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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:95499042-95618091 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 42.69 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    191 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1332240
 protein coding gene ChrX:95498965-95618091 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035926
 protein coding gene ChrX:92847543-92971540 (+)
A/J MGP_AJ_G0035912
 protein coding gene ChrX:92980499-93108716 (+)
AKR/J MGP_AKRJ_G0035828
 protein coding gene ChrX:95482055-95632622 (+)
BALB/cJ MGP_BALBcJ_G0035895
 protein coding gene ChrX:91738169-91850312 (+)
C3H/HeJ MGP_C3HHeJ_G0035603
 protein coding gene ChrX:93307467-93427203 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036424
 protein coding gene ChrX:95760920-95878780 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033253
 protein coding gene ChrX:90936534-91034523 (+)
CAST/EiJ MGP_CASTEiJ_G0034890
 protein coding gene ChrX:77783125-77891780 (+)
CBA/J MGP_CBAJ_G0035579
 protein coding gene ChrX:98651811-98773395 (+)
DBA/2J MGP_DBA2J_G0035733
 protein coding gene ChrX:92193692-92313914 (+)
FVB/NJ MGP_FVBNJ_G0035671
 protein coding gene ChrX:91599324-91714294 (+)
LP/J MGP_LPJ_G0035823
 protein coding gene ChrX:93827003-93942890 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035706
 protein coding gene ChrX:102985537-103124236 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036451
 protein coding gene ChrX:92536620-92658209 (+)
PWK/PhJ MGP_PWKPhJ_G0034589
 protein coding gene ChrX:75462853-75571908 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034418
 protein coding gene ChrX:78621670-78724025 (+)
WSB/EiJ MGP_WSBEiJ_G0035029
 protein coding gene ChrX:91374658-91492475 (+)



Homology
more
  • Human Ortholog
    HEPH, hephaestin
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEPH, hephaestin
  • Synonyms
    CPL
  • Links
    NCBI Gene ID: 9843
    neXtProt AC: NX_Q9BQS7
    UniProt: Q9BQS7

  • Chr Location
    Xq12; chrX:66162671-66268867 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    32 phenotypes from 5 alleles in 8 genetic backgrounds
    21 phenotypes from multigenic genotypes
    3 images
    42 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.
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
less
  • All GO Annotations
    17
  • GO References
    8
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
non-membrane-bounded 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
    706
  • cDNA Data
    47
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15203 NCBI Gene Model | MGI Sequence Detail 119050 C57BL/6J ±  kb
    transcript NM_010417 RefSeq | MGI Sequence Detail 4693 ZRU/MplStud  
    polypeptide Q9Z0Z4 UniProt | EBI | MGI Sequence Detail 1157 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 1
      cDNA 48

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14436, MGI:2445196, MGI:98315
    References
    more
    • Summaries
      All 72
      Diseases 2
      Gene Ontology 8
      Phenotypes 42
    • Earliest
      J:14 Falconer DS, et al., The genetics of sex-linked anaemia in the mouse. Genet Res. 1962;3(2):248-50
    • Latest
      J:324683 Zhang KR, et al., Conditional knockout of hephaestin in the neural retina disrupts retinal iron homeostasis. Exp Eye Res. 2022 May;218:109028
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory