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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
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:53241660-53312657 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 31.93 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    194 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2136171
 protein coding gene Chr11:53240807-53312657 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018289
 protein coding gene Chr11:52729632-52803230 (+)
A/J MGP_AJ_G0018258
 protein coding gene Chr11:50751086-50822707 (+)
AKR/J MGP_AKRJ_G0018228
 protein coding gene Chr11:52404686-52478052 (+)
BALB/cJ MGP_BALBcJ_G0018229
 protein coding gene Chr11:51106611-51180476 (+)
C3H/HeJ MGP_C3HHeJ_G0018040
 protein coding gene Chr11:52373384-52450343 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018681
 protein coding gene Chr11:54319664-54397748 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016331
 protein coding gene Chr11:48282793-48360865 (+)
CAST/EiJ MGP_CASTEiJ_G0017605
 protein coding gene Chr11:52419882-52495631 (+)
CBA/J MGP_CBAJ_G0018015
 protein coding gene Chr11:56881933-56968083 (+)
DBA/2J MGP_DBA2J_G0018125
 protein coding gene Chr11:50499102-50571471 (+)
FVB/NJ MGP_FVBNJ_G0018117
 protein coding gene Chr11:50137517-50209804 (+)
LP/J MGP_LPJ_G0018199
 protein coding gene Chr11:53173023-53256825 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018141
 protein coding gene Chr11:58209295-58296651 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018723
 protein coding gene Chr11:52434176-52508204 (+)
PWK/PhJ MGP_PWKPhJ_G0017380
 protein coding gene Chr11:51011044-51085243 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017175
 protein coding gene Chr11:52243889-52328233 (+)
WSB/EiJ MGP_WSBEiJ_G0017652
 protein coding gene Chr11:52067811-52149840 (+)



Homology
more
  • Human Ortholog
    AFF4, ALF transcription elongation factor 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AFF4, ALF transcription elongation factor 4
  • Synonyms
    AF5Q31, CHOPS, MCEF
  • Links
    NCBI Gene ID: 27125
    neXtProt AC: NX_Q9UHB7
    UniProt: Q9UHB7

  • Chr Location
    5q31.1; chr5:132875395-132963634 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 2 alleles in 2 genetic backgrounds
    16 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.
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
less
  • All GO Annotations
    12
  • GO References
    7
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
    1002
  • Tissues
    175
  • cDNA Data
    261
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000049470 Ensembl Gene Model | MGI Sequence Detail 70998 C57BL/6J ±  kb
    transcript ENSMUST00000060945 Ensembl | MGI Sequence Detail 10099 Not Applicable  
    polypeptide ENSMUSP00000051479 Ensembl | MGI Sequence Detail 1160 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 268
      Genomic 1
      cDNA 261
      Primer pair 5
      Other 1

      Microarray probesets 6
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 6
      Gene Ontology 7
      Phenotypes 16
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:330041 Chen Y, et al., AFF4 regulates cellular adipogenic differentiation via targeting autophagy. PLoS Genet. 2022 Sep;18(9):e1010425
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory