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Ank Gene Detail
Summary
  • Symbol
    Ank
  • Name
    progressive ankylosis
  • Synonyms
    D15Ertd221e, mKIAA1581
  • Feature Type
    protein coding gene
  • IDs
    MGI:3045421
    NCBI Gene: 11732
  • Gene Overview
    MyGene.info: ANKH
Location & Maps
more
  • Sequence Map
    Chr15:27466677-27594909 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      128233 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ANKH, ANKH inorganic pyrophosphate transport regulator
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ANKH, ANKH inorganic pyrophosphate transport regulator
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ANK, CCAL2, CMDJ, CPPDD, HANK, MANK
  • Links
    NCBI Gene ID: 56172
    neXtProt AC: NX_Q9HCJ1

  • Chr Location
    5p15.1; chr5:14704800-14871778 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 10664
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ANKH
  • Gene Tree
    Ank
Human Diseases
more
  • Diseases
    1 with Ank mouse models; 2 with human ANKH associations

Human Disease Mouse Models
       Craniometaphyseal Dysplasia, Autosomal Dominant; CMDD   OMIM: 123000 View 1 model
       Chondrocalcinosis 2; CCAL2   OMIM: 118600
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 7 alleles in 6 genetic backgrounds
    1 images
    39 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    4
  • Transgenic
    3
  • Genomic Mutations
    2 involving Ank
  • Incidental Mutations
Homozygous mutant animals exhibit joint stiffness due to increased calcium deposits in calcified cartilages and die prematurely. Hyperostosis of craniofacial bones and the mandible has been reported in other mutants as well.
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 OTTMUSG00000026300 VEGA Gene Model | MGI Sequence Detail 128233 C57BL/6J ±  kb
transcript OTTMUST00000065059 VEGA | MGI Sequence Detail 3498 Not Applicable  
polypeptide OTTMUSP00000032371 VEGA | MGI Sequence Detail 492 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1295 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004036 progressive ankylosis protein
  • InterPro Domains
    IPR009887 Progressive ankylosis
Molecular
Reagents
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  • All nucleic 138
    Genomic 1
    cDNA 134
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1323, MGI:1098556, MGI:88023
References
more
  • Summaries
    All 67
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 6
    Phenotypes 39
  • Earliest
    J:6580 Sweet HO, et al., Progressive ankylosis, a new skeletal mutation in the mouse. J Hered. 1981 Mar-Apr;72(2):87-93
  • Latest
    J:226662 Chen IP, et al., Dental Anomalies Associated with Craniometaphyseal Dysplasia. J Dent Res. 2014 Mar 24;93(6):553-558

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
04/26/2016
MGI 6.03
The Jackson Laboratory