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Ank2 Gene Detail
Summary
  • Symbol
    Ank2
  • Name
    ankyrin 2, brain
  • Synonyms
    Ank-2, Ankyrin-2, ankyrin B, Ankyrin-B, Gm4392
  • Feature Type
    protein coding gene
  • IDs
    MGI:88025
    NCBI Gene: 109676
  • Alliance
    gene page
  • Transcription Start Sites
    48 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:126715261-127292999 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 56.07 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    18993 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88025
 protein coding gene Chr3:126715256-127293996 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027859
 protein coding gene Chr3:129355185-129985186 (-)
A/J MGP_AJ_G0027818
 protein coding gene Chr3:124953367-125539551 (-)
AKR/J MGP_AKRJ_G0027783
 protein coding gene Chr3:128179761-128781522 (-)
BALB/cJ MGP_BALBcJ_G0027830
 protein coding gene Chr3:124812759-125401392 (-)
C3H/HeJ MGP_C3HHeJ_G0027560
 protein coding gene Chr3:128562846-129164279 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028275
 protein coding gene Chr3:134046904-134673765 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025612
 protein coding gene Chr3:120210115-120793631 (-)
CAST/EiJ MGP_CASTEiJ_G0027016
 protein coding gene Chr3:128065884-128700778 (-)
CBA/J MGP_CBAJ_G0027535
 protein coding gene Chr3:138532919-139223724 (-)
DBA/2J MGP_DBA2J_G0027676
 protein coding gene Chr3:124171452-124760252 (-)
FVB/NJ MGP_FVBNJ_G0027644
 protein coding gene Chr3:121735464-122327363 (-)
LP/J MGP_LPJ_G0027786
 protein coding gene Chr3:130915555-131538154 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027674
 protein coding gene Chr3:146526012-147156698 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028331
 protein coding gene Chr3:127814083-128418833 (-)
PWK/PhJ MGP_PWKPhJ_G0026741
 protein coding gene Chr3:123886231-124477568 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026565
 protein coding gene Chr3:125880699-126506771 (-)
WSB/EiJ MGP_WSBEiJ_G0027095
 protein coding gene Chr3:128529762-129134435 (-)



Homology
more
  • Human Ortholog
    ANK2, ankyrin 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ANK2, ankyrin 2
  • Synonyms
    ANK-2, brank-2, CFAP87, FAP87, LQT4
  • Links
    NCBI Gene ID: 287
    neXtProt AC: NX_Q01484
    UniProt: Q01484

  • Chr Location
    4q25-q26; chr4:112705622-113384221 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ank2 mouse models; 4 with human ANK2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 6 alleles in 8 genetic backgrounds
    5 images
    56 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 mutation of this gene results in death by postnatal day 8, although some animals survive to P20. Mutant animals display reduced body size, impaired balance and locomotion, brain structure dysmorphologies, abnormal lens, and optic nerve degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    111
  • GO References
    24
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
    786
  • Tissues
    51
  • cDNA Data
    23
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032826 Ensembl Gene Model | MGI Sequence Detail 577739 C57BL/6J ±  kb
    transcript ENSMUST00000182064 Ensembl | MGI Sequence Detail 12413 Not Applicable  
    polypeptide ENSMUSP00000138620 Ensembl | MGI Sequence Detail 3926 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      18 Sequences
    • InterPro Domains
      IPR002110 Ankyrin repeat
      IPR036770 Ankyrin repeat-containing domain superfamily
      IPR040745 Ankyrin, UPA domain
      IPR000488 Death domain
      IPR011029 Death-like domain superfamily
      IPR052391 E3 Ligase Complex Components and Neurotoxins
      IPR051165 Multifunctional Ankyrin Repeat Domain-Containing Protein
      IPR000906 ZU5 domain
    • GlyGen
      Q8C8R3 16 sites, 5 N-linked glycans (5 sites), 1 O-linked glycan (11 sites)
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 24
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1325, MGD-MRK-1328, MGI:2139799, MGI:2139987, MGI:3782577
    References
    more
    • Summaries
      All 116
      Developmental Gene Expression 22
      Diseases 4
      Gene Ontology 24
      Phenotypes 56
    • Earliest
      J:11441 Peters LL, et al., Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol. 1991 Sep;114(6):1233-41
    • Latest
      J:354224 Van Wauwe J, et al., PRDM16 determines specification of ventricular cardiomyocytes by suppressing alternative cell fates. Life Sci Alliance. 2024 Dec;7(12)
    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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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory