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Eif4h Gene Detail
Summary
  • Symbol
    Eif4h
  • Name
    eukaryotic translation initiation factor 4H
  • Synonyms
    D5Ertd355e, E430026L18Rik, Eif4h, Wbscr1, Wscr1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341822
    NCBI Gene: 22384
  • Gene Overview
    MyGene.info: EIF4H
Location & Maps
more
  • Sequence Map
    Chr5:134619721-134639490 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19770 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    EIF4H, eukaryotic translation initiation factor 4H
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EIF4H, eukaryotic translation initiation factor 4H
    Orthology source: HGNC, HomoloGene
  • Synonyms
    eIF-4H, WBSCR1, WSCR1
  • Links
    NCBI Gene ID: 7458
    neXtProt AC: NX_Q15056

  • Chr Location
    7q11.23; chr7:74174376-74197101 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 32536
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: EIF4H
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Eif4h mouse models

Human Disease Mouse Models
       Williams-Beuren Syndrome; WBS   OMIM: 194050 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 1 allele in 1 genetic background
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    51
  • Gene trapped
    46
  • Targeted
    5
  • Genomic Mutations
    2 involving Eif4h
  • Incidental Mutations
Mice homozygous for a gene trap allele exhibit growth defects and impaired cognitive behaviors.
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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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055761 VEGA Gene Model | MGI Sequence Detail 19770 C57BL/6J ±  kb
transcript OTTMUST00000137997 VEGA | MGI Sequence Detail 2726 Not Applicable  
polypeptide OTTMUSP00000072604 VEGA | MGI Sequence Detail 248 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    144 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000007001 eukaryotic translation initiation factor 4H
  • PDB
  • InterPro Domains
    IPR012677 Nucleotide-binding alpha-beta plait domain
    IPR000504 RNA recognition motif domain
Molecular
Reagents
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  • All nucleic 28
    Genomic 4
    cDNA 21
    Primer pair 3

    Microarray probesets 6
Other
Accession IDs
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MGI:1196428, MGI:2141045, MGI:2444028
References
more
  • Summaries
    All 46
    Developmental Gene Expression 4
    Diseases 4
    Gene Ontology 5
    Phenotypes 16
  • Earliest
    J:55324 DeSilva U, et al., Comparative mapping of the region of human chromosome 7 deleted in williams syndrome. Genome Res. 1999 May;9(5):428-36
  • Latest
    J:181945 Capossela S, et al., Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region. Am J Pathol. 2012 Mar;180(3):1121-35

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory