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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:27466763-27594995 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 10.23 cM
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4040 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3045421
 protein coding gene Chr15:27466763-27594995 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021755
 protein coding gene Chr15:25534467-25665299 (+)
A/J MGP_AJ_G0021716
 protein coding gene Chr15:24555529-24682998 (+)
AKR/J MGP_AKRJ_G0021694
 protein coding gene Chr15:25124281-25259107 (+)
BALB/cJ MGP_BALBcJ_G0021723
 protein coding gene Chr15:24521387-24650572 (+)
C3H/HeJ MGP_C3HHeJ_G0021498
 protein coding gene Chr15:25178446-25312717 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022162
 protein coding gene Chr15:26579698-26715700 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019701
 protein coding gene Chr15:22869011-22996064 (+)
CAST/EiJ MGP_CASTEiJ_G0021014
 protein coding gene Chr15:25623770-25701705 (+)
CBA/J MGP_CBAJ_G0021467
 protein coding gene Chr15:27360306-27496432 (+)
DBA/2J MGP_DBA2J_G0021591
 protein coding gene Chr15:24306661-24436681 (+)
FVB/NJ MGP_FVBNJ_G0021569
 protein coding gene Chr15:23867469-24001342 (+)
LP/J MGP_LPJ_G0021659
 protein coding gene Chr15:25397087-25531360 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021594
 protein coding gene Chr15:30120990-30257489 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022185
 protein coding gene Chr15:25341287-25475407 (+)
PWK/PhJ no annotation
SPRET/EiJ MGP_SPRETEiJ_G0020595
 protein coding gene Chr15:25152270-25288758 (+)
WSB/EiJ MGP_WSBEiJ_G0021070
 protein coding gene Chr15:25309083-25448811 (+)



Homology
more
  • Human Ortholog
    ANKH, ANKH inorganic pyrophosphate transport regulator
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ANKH, ANKH inorganic pyrophosphate transport regulator
  • Synonyms
    ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1
  • Links
    NCBI Gene ID: 56172
    neXtProt AC: NX_Q9HCJ1
    UniProt: Q9HCJ1

  • Chr Location
    5p15.2; chr5:14704800-14871778 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ank mouse models; 2 with human ANKH associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 7 alleles in 6 genetic backgrounds
    1 images
    51 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 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
less
  • All GO Annotations
    40
  • 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
    751
  • Tissues
    29
  • cDNA Data
    134
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11732 NCBI Gene Model | MGI Sequence Detail 128233 C57BL/6J ±  kb
    transcript NM_020332 RefSeq | MGI Sequence Detail 3511 C57BL/6  
    polypeptide Q9JHZ2 UniProt | EBI | MGI Sequence Detail 492 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 141
      Genomic 1
      cDNA 135
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1323, MGI:1098556, MGI:88023
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 12
      Phenotypes 51
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:340126 Nagasaki A, et al., Ablation of Pyrophosphate Regulators Promotes Periodontal Regeneration. J Dent Res. 2021 Jun;100(6):639-647
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory