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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
Location & Maps
more
  • Sequence Map
    Chr3:126921612-127499350 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      577739 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 56.07 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    ANK2, ankyrin 2
  • Human Ortholog
    ANK2, ankyrin 2
    Orthology source: HGNC
  • Synonyms
    ANK-2, brank-2, LQT4
  • Links
    NCBI Gene ID: 287
    neXtProt AC: NX_Q01484

  • Chr Location
    4q25-q26; chr4:112818083-113383740 (+)  GRCh38.p2

  • HCOP
    human homology predictions: ANK2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human ANK2 associations

Human Disease Mouse Models
       Cardiac Arrhythmia, Ankyrin-B-Related   OMIM: 600919
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 3 alleles in 4 genetic backgrounds
    5 images
    34 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
    69
  • Chemically induced (other)
    1
  • Gene trapped
    62
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Ank2
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000043348 VEGA Gene Model | MGI Sequence Detail 577739 C57BL/6J ±  kb
transcript OTTMUST00000150565 VEGA | MGI Sequence Detail 12413 Not Applicable  
polypeptide OTTMUSP00000078065 VEGA | MGI Sequence Detail 3926 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    8169 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 23
    cDNA 22
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-1325, MGD-MRK-1328, MGI:2139799, MGI:2139987, MGI:3782577
References
more
  • Summaries
    All 76
    Developmental Gene Expression 8
    Gene Ontology 22
    Phenotypes 34
  • 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:234134 Smith SA, et al., Dysfunction in the betaII spectrin-dependent cytoskeleton underlies human arrhythmia. Circulation. 2015 Feb 24;131(8):695-708

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory