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Asxl2 Gene Detail
Summary
  • Symbol
    Asxl2
  • Name
    ASXL transcriptional regulator 2
  • Synonyms
    4930556B16Rik, mKIAA1685
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922552
    NCBI Gene: 75302
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:3476857-3556852 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 1.81 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1551 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922552
 protein coding gene Chr12:3476857-3560811 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019557
 protein coding gene Chr12:222429-306773 (+)
A/J MGP_AJ_G0019524
 protein coding gene Chr12:294160-375911 (+)
AKR/J MGP_AKRJ_G0019494
 protein coding gene Chr12:414792-500611 (+)
BALB/cJ MGP_BALBcJ_G0019499
 protein coding gene Chr12:292724-383762 (+)
C3H/HeJ MGP_C3HHeJ_G0019305
 protein coding gene Chr12:195661-281892 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019949
 protein coding gene Chr12:232710-315401 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017573
 protein coding gene Chr12:232710-316800 (+)
CAST/EiJ MGP_CASTEiJ_G0018860
 protein coding gene Chr12:252570-336002 (+)
CBA/J MGP_CBAJ_G0019276
 protein coding gene Chr12:443546-536998 (+)
DBA/2J MGP_DBA2J_G0019389
 protein coding gene Chr12:247628-329363 (+)
FVB/NJ MGP_FVBNJ_G0019380
 protein coding gene Chr12:261618-342792 (+)
LP/J MGP_LPJ_G0019460
 protein coding gene Chr12:241732-338901 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019413
 protein coding gene Chr12:267872-360722 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019987
 protein coding gene Chr12:192577-281873 (+)
PWK/PhJ MGP_PWKPhJ_G0018626
 protein coding gene Chr12:253035-334880 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018417
 protein coding gene Chr12:262552-341827 (+)
WSB/EiJ MGP_WSBEiJ_G0018912
 protein coding gene Chr12:236102-318274 (+)



Homology
more
  • Human Ortholog
    ASXL2, ASXL transcriptional regulator 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASXL2, ASXL transcriptional regulator 2
  • Synonyms
    ASXH2, SHAPNS
  • Links
    NCBI Gene ID: 55252
    neXtProt AC: NX_Q76L83
    UniProt: Q76L83

  • Chr Location
    2p23.3; chr2:25733753-25878487 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 2 alleles in 2 genetic backgrounds
    2 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.
Mice homozygous for a severe hypomorphic allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    12
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
    774
  • Tissues
    38
  • cDNA Data
    95
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037486 Ensembl Gene Model | MGI Sequence Detail 79996 C57BL/6J ±  kb
    transcript ENSMUST00000153102 Ensembl | MGI Sequence Detail 4462 Not Applicable  
    polypeptide ENSMUSP00000117384 Ensembl | MGI Sequence Detail 1370 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 100
      cDNA 96
      Primer pair 3
      Other 1

      Microarray probesets 10
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 6
      Gene Ontology 12
      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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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