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Aliases for ANKH Gene

Aliases for ANKH Gene

  • ANKH Inorganic Pyrophosphate Transport Regulator 2 3
  • ANK 3 4 6
  • CPPDD 3 6
  • CCAL2 3 6
  • HANK 3 6
  • CMDJ 3 6
  • Craniometaphyseal Dysplasia, Jackson Type (Dominant) 2
  • Ankylosis, Progressive (Mouse) Homolog 2
  • Ankylosis, Progressive Homolog (Mouse) 2
  • Progressive Ankylosis Protein Homolog 3
  • Ankylosis, Progressive Homolog 3
  • KIAA1581 4
  • MANK 3

External Ids for ANKH Gene

Previous HGNC Symbols for ANKH Gene

  • CCAL2
  • CMDJ

Previous GeneCards Identifiers for ANKH Gene

  • GC05M014695
  • GC05M014982
  • GC05M014757
  • GC05M014761
  • GC05M014762
  • GC05M014705

Summaries for ANKH Gene

Entrez Gene Summary for ANKH Gene

  • This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

GeneCards Summary for ANKH Gene

ANKH (ANKH Inorganic Pyrophosphate Transport Regulator) is a Protein Coding gene. Diseases associated with ANKH include chondrocalcinosis 2 and craniometaphyseal dysplasia. GO annotations related to this gene include inorganic phosphate transmembrane transporter activity and inorganic diphosphate transmembrane transporter activity.

UniProtKB/Swiss-Prot for ANKH Gene

  • Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter

Gene Wiki entry for ANKH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKH Gene

Genomics for ANKH Gene

Regulatory Elements for ANKH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ANKH Gene

Start:
14,704,800 bp from pter
End:
14,871,778 bp from pter
Size:
166,979 bases
Orientation:
Minus strand

Genomic View for ANKH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANKH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKH Gene

Proteins for ANKH Gene

  • Protein details for ANKH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCJ1-ANKH_HUMAN
    Recommended name:
    Progressive ankylosis protein homolog
    Protein Accession:
    Q9HCJ1
    Secondary Accessions:
    • B2RCA7
    • B3KMG4
    • D3DTD4
    • Q9NQW2

    Protein attributes for ANKH Gene

    Size:
    492 amino acids
    Molecular mass:
    54241 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB13407.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKH Gene

Proteomics data for ANKH Gene at MOPED

Post-translational modifications for ANKH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKH Gene

Domains for ANKH Gene

Protein Domains for ANKH Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9HCJ1

UniProtKB/Swiss-Prot:

ANKH_HUMAN :
  • Q9HCJ1
Family:
  • Belongs to the ANKH family.
genes like me logo Genes that share domains with ANKH: view

No data available for Gene Families for ANKH Gene

Function for ANKH Gene

Molecular function for ANKH Gene

UniProtKB/Swiss-Prot Function: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter

Gene Ontology (GO) - Molecular Function for ANKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005315 inorganic phosphate transmembrane transporter activity IDA 11326272
GO:0015114 phosphate ion transmembrane transporter activity IEA --
GO:0030504 inorganic diphosphate transmembrane transporter activity IDA 11326272
genes like me logo Genes that share ontologies with ANKH: view
genes like me logo Genes that share phenotypes with ANKH: view

Animal Models for ANKH Gene

MGI Knock Outs for ANKH:

Animal Model Products

CRISPR Products

miRNA for ANKH Gene

miRTarBase miRNAs that target ANKH

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANKH

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ANKH Gene

Localization for ANKH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKH Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKH Gene COMPARTMENTS Subcellular localization image for ANKH gene
Compartment Confidence
plasma membrane 4
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ANKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016021 integral component of membrane IDA 11326272
GO:0019867 outer membrane TAS 11326272
genes like me logo Genes that share ontologies with ANKH: view

Pathways for ANKH Gene

SuperPathways for ANKH Gene

No Data Available

Interacting Proteins for ANKH Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000284268%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000346067%0d%0a9606.ENSP00000243077%0d%0a9606.ENSP00000252486%0d%0a
Selected Interacting proteins: ENSP00000284268 for ANKH Gene via STRING

Gene Ontology (GO) - Biological Process for ANKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 10894769
GO:0007626 locomotory behavior NAS 10894769
GO:0030500 regulation of bone mineralization TAS 11326272
GO:0030505 inorganic diphosphate transport IEA --
GO:0035435 phosphate ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with ANKH: view

No data available for Pathways by source for ANKH Gene

Compounds for ANKH Gene

(1) HMDB Compounds for ANKH Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(3) Novoseek inferred chemical compound relationships for ANKH Gene

Compound -log(P) Hits PubMed IDs
pyrophosphate 91.2 39
hydroxyapatite 58.9 2
calcium 6.7 2
genes like me logo Genes that share compounds with ANKH: view

Transcripts for ANKH Gene

Unigene Clusters for ANKH Gene

Ankylosis, progressive homolog (mouse):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANKH

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKH Gene

No ASD Table

Relevant External Links for ANKH Gene

GeneLoc Exon Structure for
ANKH
ECgene alternative splicing isoforms for
ANKH

Expression for ANKH Gene

mRNA expression in normal human tissues for ANKH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKH Gene

SOURCE GeneReport for Unigene cluster for ANKH Gene Hs.156727

mRNA Expression by UniProt/SwissProt for ANKH Gene

Q9HCJ1-ANKH_HUMAN
Tissue specificity: Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells
genes like me logo Genes that share expressions with ANKH: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ANKH Gene

Orthologs for ANKH Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKH 35
  • 99.46 (n)
  • 99.8 (a)
ANKH 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKH 35
  • 90.51 (n)
  • 98.37 (a)
ANKH 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKH 35
  • 90.33 (n)
  • 98.9 (a)
ANKH 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ank 35
  • 89.57 (n)
  • 98.37 (a)
Ank 16
Ank 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKH 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKH 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankh 35
  • 89.57 (n)
  • 97.76 (a)
chicken
(Gallus gallus)
Aves ANKH 35
  • 83.4 (n)
  • 95.73 (a)
ANKH 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKH 36
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11973 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ankh 35
  • 77.71 (n)
  • 91.67 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4440 35
zebrafish
(Danio rerio)
Actinopterygii ankh 35
ankha 36
  • 76 (a)
OneToMany
ankhb 35
  • 75.47 (n)
  • 83.54 (a)
ankhb 36
  • 82 (a)
OneToMany
Species with no ortholog for ANKH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKH Gene

ENSEMBL:
Gene Tree for ANKH (if available)
TreeFam:
Gene Tree for ANKH (if available)

Paralogs for ANKH Gene

No data available for Paralogs for ANKH Gene

Variants for ANKH Gene

Sequence variations from dbSNP and Humsavar for ANKH Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs10570 -- 14,709,997(-) TTTTT(C/T)CTTTA utr-variant-3-prime
rs12493 -- 14,768,340(+) CACGA(C/T)GGAAG intron-variant
rs25946 -- 14,786,955(+) ggtTC(A/C)TCCAG intron-variant
rs25957 -- 14,783,123(+) GATCT(C/G)GTTGT intron-variant
rs25983 -- 14,726,849(+) GCATA(C/G)CTGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKH Gene

Variant ID Type Subtype PubMed ID
nsv4728 CNV Insertion 18451855
nsv4729 CNV Insertion 18451855
nsv830212 CNV Loss 17160897
esv28799 CNV Loss 19812545

Relevant External Links for ANKH Gene

HapMap Linkage Disequilibrium report
ANKH
Human Gene Mutation Database (HGMD)
ANKH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKH Gene

Disorders for ANKH Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for ANKH Gene including...

Search for ANKH Gene in MalaCards »

(2) OMIM Diseases for ANKH Gene (605145)

UniProtKB/Swiss-Prot

ANKH_HUMAN
  • Chondrocalcinosis 2 (CCAL2) [MIM:118600]: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. {ECO:0000269 PubMed:12297987, ECO:0000269 PubMed:12297989, ECO:0000269 PubMed:13130483}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. {ECO:0000269 PubMed:11326272, ECO:0000269 PubMed:11326338}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ANKH Gene

(13) Novoseek inferred disease relationships for ANKH Gene

Disease -log(P) Hits PubMed IDs
calcium pyrophosphate dihydrate deposition disease 94.7 9
chondrocalcinosis 92.5 15
calcium pyrophosphate dihydrate deposition 91.1 1
calcium pyrophosphate dihydrate crystal deposition disease 83.5 4
arthrodesis 79 16

Relevant External Links for ANKH

GeneTests
ANKH
GeneReviews
ANKH
Genetic Association Database (GAD)
ANKH
Human Genome Epidemiology (HuGE) Navigator
ANKH
genes like me logo Genes that share disorders with ANKH: view

Publications for ANKH Gene

  1. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. (PMID: 11326338) Reichenberger E. … Olsen B.R. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. (PMID: 12297989) Williams C.J. … Brown M.A. (Am. J. Hum. Genet. 2002) 2 3 4 23
  3. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. (PMID: 11326272) Nuernberg P. … Tinschert S. (Nat. Genet. 2001) 3 4 23
  4. Mutations in ANKH cause chondrocalcinosis. (PMID: 12297987) Pendleton A. … Kingsley D.M. (Am. J. Hum. Genet. 2002) 3 4 23
  5. Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. (PMID: 13130483) Williams C.J. … Ryan L.M. (Arthritis Rheum. 2003) 3 4 23

Products for ANKH Gene

Sources for ANKH Gene

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