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Afg2b Gene Detail
Summary
  • Symbol
    Afg2b
  • Name
    AFG2 AAA ATPase homolog B
  • Synonyms
    C130039A10Rik, Spata5l1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3036261
    NCBI Gene: 214616
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:122461120-122474750 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 60.64 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    114 from dbSNP Build 142
  • Strain Annotations
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3036261
 protein coding gene Chr2:122461112-122474933 (+)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    AFG2B, AFG2 AAA ATPase homolog B
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AFG2B, AFG2 AAA ATPase homolog B
  • Synonyms
    DFNB119, NEDHLS, SPATA5L1
  • Links
    NCBI Gene ID: 79029
    neXtProt AC: NX_Q9BVQ7
    UniProt: Q9BVQ7

  • Chr Location
    15q21.1; chr15:45402336-45421415 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human AFG2B associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 2 genetic backgrounds
    1 images
    8 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
    6
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    3
  • Radiation induced
    1
  • Genomic Mutations
    2 involving Afg2b
  • Find Mice (IMSR)
    4 strains or lines available
Mice homozygous for a knock-out allele show complete embryonic lethality prior to organogenesis. In vitro, blastocysts fail to hatch from the zona pellucida and die after 3 days in culture.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    5
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
membraneless 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
    6
  • Tissues
    1
  • cDNA Data
    9
  • Literature Summary
    2
  • Other Mouse Links
    GEO
  • Other Vertebrate Links
    Xenbase afg2b
Sequences &
Gene Models
less
  • All Sequences
    17
  • RefSeq
    3
  • UniProt
    2
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000118663 Ensembl Gene Model | MGI Sequence Detail 13631 C57BL/6J ±  kb
transcript ENSMUST00000239506 Ensembl | MGI Sequence Detail 2347 Not Applicable  
polypeptide ENSMUSP00000159384 Ensembl | MGI Sequence Detail 747 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    cDNA 9
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:3052755, MGI:7461482
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
  • Latest
    J:175792 Jelcick AS, et al., Genetic variations strongly influence phenotypic outcome in the mouse retina. PLoS One. 2011;6(7):e21858
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
11/05/2024
MGI 6.24 		The Jackson Laboratory