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Aff4 Gene Detail
Summary
  • Symbol
    Aff4
  • Name
    AF4/FMR2 family, member 4
  • Synonyms
    Alf4, Laf4l
  • Feature Type
    protein coding gene
  • IDs
    MGI:2136171
    NCBI Gene: 93736
Location & Maps
more
  • Sequence Map
    Chr11:53350833-53421830 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      70998 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 31.93 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    AFF4, AF4/FMR2 family member 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AFF4, AF4/FMR2 family member 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AF5Q31, CHOPS, MCEF
  • Links
    NCBI Gene ID: 27125
    neXtProt AC: NX_Q9UHB7

  • Chr Location
    5q31.1; chr5:132875379-132963662 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 8683
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: AFF4
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human AFF4 associations

Human Disease Mouse Models
       Chops Syndrome; CHOPS   OMIM: 616368
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    9 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
    46
  • Chemically induced (other)
    1
  • Gene trapped
    44
  • Targeted
    1
  • Genomic Mutations
    1 involving Aff4
  • Incidental Mutations
Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities.
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 OTTMUSG00000000053 VEGA Gene Model | MGI Sequence Detail 70998 C57BL/6J ±  kb
transcript OTTMUST00000012525 VEGA | MGI Sequence Detail 10099 Not Applicable  
polypeptide OTTMUSP00000005807 VEGA | MGI Sequence Detail 1160 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    195 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 267
    Genomic 1
    cDNA 261
    Primer pair 5

    Microarray probesets 6
References
more
  • Summaries
    All 33
    Developmental Gene Expression 5
    Gene Ontology 5
    Phenotypes 9
  • Earliest
    J:60872 Wenderfer SE, et al., Identification of 40 genes on a 1-Mb contig around the IL-4 cytokine family gene cluster on mouse chromosome 11. Genomics. 2000 Feb 1;63(3):354-73
  • Latest
    J:190435 Lin C, et al., The RNA Pol II Elongation Factor Ell3 Marks Enhancers in ES Cells and Primes Future Gene Activation. Cell. 2012 Dec 25;

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
11/29/2016
MGI 6.06
The Jackson Laboratory