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Afdn Gene Detail
Summary
  • Symbol
    Afdn
  • Name
    afadin, adherens junction formation factor
  • Synonyms
    5033403D15Rik, AF6, Afadin, I-afadin, Mllt4, S-afadin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1314653
    NCBI Gene: 17356
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:13980735-14126059 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 8.95 cM, cytoband A2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    253 from dbSNP Build 142
  • Strain Annotations
    12
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1314653
 protein coding gene Chr17:13980735-14126412 (+)
129S1/SvImJ no annotation
A/J MGP_AJ_G0023128
 protein coding gene Chr17:11344714-11646881 (+)
AKR/J MGP_AKRJ_G0023098
 protein coding gene Chr17:11240921-11387146 (+)
BALB/cJ MGP_BALBcJ_G0023129
 protein coding gene Chr17:11108855-11450655 (+)
C3H/HeJ MGP_C3HHeJ_G0022891
 protein coding gene Chr17:11368556-11537109 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023571
 protein coding gene Chr17:12051352-12223966 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021083
 protein coding gene Chr17:9430918-9575166 (+)
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ MGP_FVBNJ_G0022966
 protein coding gene Chr17:10878744-11024920 (+)
LP/J MGP_LPJ_G0023072
 protein coding gene Chr17:11457451-11778024 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022987
 protein coding gene Chr17:12077157-12255090 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023606
 protein coding gene Chr17:11421411-11584836 (+)
PWK/PhJ no annotation
SPRET/EiJ MGP_SPRETEiJ_G0021984
 protein coding gene Chr17:10497891-10669220 (+)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    AFDN, afadin, adherens junction formation factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AFDN, afadin, adherens junction formation factor
  • Synonyms
    AF6, l-afadin, MLL-AF6, MLLT4
  • Links
    NCBI Gene ID: 4301
    neXtProt AC: NX_P55196
    UniProt: P55196

  • Chr Location
    6q27; chr6:167826872-167972023 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 6 alleles in 6 genetic backgrounds
    39 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    56
  • GO References
    19
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    764
  • Tissues
    46
  • cDNA Data
    20
  • Literature Summary
    42
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17356 NCBI Gene Model | MGI Sequence Detail 145325 C57BL/6J ±  kb
    transcript NR_151731 RefSeq | MGI Sequence Detail 7441 C57BL/6  
    polypeptide Q9QZQ1 UniProt | EBI | MGI Sequence Detail 1820 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 3
      cDNA 23
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2685160
    References
    more
    • Summaries
      All 123
      Developmental Gene Expression 42
      Gene Ontology 19
      Phenotypes 39
    • Earliest
      J:49560 Hock B, et al., PDZ-domain-mediated interaction of the Eph-related receptor tyrosine kinase EphB3 and the ras-binding protein AF6 depends on the kinase activity of the receptor. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9779-84
    • Latest
      J:330604 Akturk A, et al., RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells. Sci Adv. 2022 Oct 21;8(42):eabq2826
    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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    11/22/2022
    MGI 6.22     		The Jackson Laboratory