Ank
Gene Detail

Symbol Name ID

Ank progressive ankylosis MGI:3045421

Synonyms

D15Ertd221e, mKIAA1581

Feature Type

protein coding gene

Genetic Map

Chromosome 15

10.23 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)

Sequence Map

Chr15:27466677-27594909 bp, + strand From VEGA annotation of GRCm38   128233 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:10664  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ank

Human homologs

Human Homolog		ANKH, ankylosis, progressive homolog (mouse)
NCBI Gene ID		56172
neXtProt AC		NX_Q9HCJ1
Human Synonyms		ANK, CCAL2, CMDJ, CPPDD, HANK, MANK
Human Chr (Location)		5p15.1; chr5:14704909-14871887 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ANKH

Alleles and phenotypes

All alleles(6) : Targeted(4) Gene trapped(1) Spontaneous(1)
 

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.

 
Human Diseases Modeled Using Mouse Ank (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	inorganic diphosphate transport, ion transmembrane transport, ...
Component	integral to membrane, integral to plasma membrane, ...
Function	inorganic diphosphate transmembrane transporter activity, inorganic phosphate transmembrane transporter activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
cDNA source data(133)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(136) Genomic(1) cDNA(134) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000026300 (Evidence)
Ensembl Gene Model	ENSMUSG00000022265 (Evidence)
Entrez Gene	11732 (Evidence)
UniGene	265264
DFCI	TC1573067
DoTS	DT.489949
NIA Mouse Gene Index	U016123
Consensus CDS Project	CCDS27402.1
International Mouse Knockout Project Status	Ank

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026300	VEGA Gene Model | MGI Sequence Detail	128233	C57BL/6J
transcript	OTTMUST00000065059	VEGA | MGI Sequence Detail	3498	Not Applicable
polypeptide	OTTMUSP00000032371	VEGA | MGI Sequence Detail	492	Not Applicable

All sequences(28) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(802 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009887	Progressive ankylosis
Protein Ontology	PR:000004036	progressive ankylosis protein

References

(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:187846 Foster BL, et al., Central role of pyrophosphate in acellular cementum formation. PLoS One. 2012;7(6):e38393
All references(68)

Other accession IDs

MGD-MRK-1323, MGI:1098556, MGI:88023