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Mad2l2 Gene Detail
Summary
  • Symbol
    Mad2l2
  • Name
    MAD2 mitotic arrest deficient-like 2
  • Synonyms
    2310033C13Rik, G1-453-4, MAD2B, repro22, REV7
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919140
    NCBI Gene: 71890
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:148214841-148230156 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 78.67 cM, cytoband E1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    228 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919140
 protein coding gene Chr4:148214615-148230161 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029118
 protein coding gene Chr4:151818384-151835619 (+)
A/J MGP_AJ_G0029083
 protein coding gene Chr4:145548539-145564750 (+)
AKR/J MGP_AKRJ_G0029031
 protein coding gene Chr4:149516206-149531463 (+)
BALB/cJ MGP_BALBcJ_G0029099
 protein coding gene Chr4:146059453-146074733 (+)
C3H/HeJ MGP_C3HHeJ_G0028820
 protein coding gene Chr4:150072544-150088771 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029548
 protein coding gene Chr4:157355134-157375671 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026794
 protein coding gene Chr4:137971267-137987794 (+)
CAST/EiJ MGP_CASTEiJ_G0028233
 protein coding gene Chr4:147266496-147283071 (+)
CBA/J MGP_CBAJ_G0028782
 protein coding gene Chr4:161883708-161902872 (+)
DBA/2J MGP_DBA2J_G0028930
 protein coding gene Chr4:145657609-145672858 (+)
FVB/NJ MGP_FVBNJ_G0028895
 protein coding gene Chr4:144745997-144762476 (+)
LP/J MGP_LPJ_G0029021
 protein coding gene Chr4:151782923-151802234 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028922
 protein coding gene Chr4:165253124-165269643 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029580
 protein coding gene Chr4:149993492-150011118 (+)
PWK/PhJ MGP_PWKPhJ_G0027953
 protein coding gene Chr4:141642765-141658937 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027787
 protein coding gene Chr4:144258701-144273627 (+)
WSB/EiJ MGP_WSBEiJ_G0028313
 protein coding gene Chr4:150148682-150167524 (+)



Homology
more
  • Human Ortholog
    MAD2L2, mitotic arrest deficient 2 like 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAD2L2, mitotic arrest deficient 2 like 2
  • Synonyms
    FANCV, MAD2B, POLZ2, REV7
  • Links
    NCBI Gene ID: 10459
    neXtProt AC: NX_Q9UI95
    UniProt: Q9UI95

  • Chr Location
    1p36.22; chr1:11658918-11691830 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MAD2L2 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
    49 phenotypes from 4 alleles in 5 genetic backgrounds
    9 images
    23 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 disruption of this gene causes partial lethality between E13.5 and weaning, reduced body size, small testes and ovaries, infertility, and abnormal primordial germ cell apoptosis. Homozygotes for a null allele show increased neuroblast apoptosis and accumulation of double strand breaks.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    59
  • GO References
    8
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
    886
  • Tissues
    48
  • cDNA Data
    48
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029003 Ensembl Gene Model | MGI Sequence Detail 15316 C57BL/6J ±  kb
    transcript ENSMUST00000084129 Ensembl | MGI Sequence Detail 1162 Not Applicable  
    polypeptide ENSMUSP00000081146 Ensembl | MGI Sequence Detail 211 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 48
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:3512803
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 6
      Gene Ontology 8
      Phenotypes 23
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory