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Aliases for ANKH Gene

Aliases for ANKH Gene

  • ANKH Inorganic Pyrophosphate Transport Regulator 2 3 5
  • ANK 3 4
  • Craniometaphyseal Dysplasia, Jackson Type (Dominant) 2
  • Ankylosis, Progressive (Mouse) Homolog 2
  • Ankylosis, Progressive Homolog (Mouse) 2
  • Ankylosis, Progressive Homolog 3
  • KIAA1581 4
  • CPPDD 3
  • CCAL2 3
  • HANK 3
  • MANK 3
  • CMDJ 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 craniometaphyseal dysplasia and chondrocalcinosis 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. 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

Promoters for ANKH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKH on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKH Gene

Chromosome:
5
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

Genes around ANKH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families 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 :
  • Belongs to the ANKH family.
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.
genes like me logo Genes that share phenotypes with ANKH: view

Human Phenotype Ontology for ANKH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANKH Gene

MGI Knock Outs for ANKH:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
extracellular 2
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for ANKH Gene

Pathways & Interactions for ANKH Gene

genes like me logo Genes that share pathways with ANKH: view

Pathways by source for ANKH Gene

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:0030505 inorganic diphosphate transport IDA,TAS --
GO:0035435 phosphate ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with ANKH: view

No data available for SIGNOR curated interactions for ANKH Gene

Drugs & Compounds for ANKH Gene

(2) Drugs for ANKH Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for ANKH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Inhibitory RNA 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

Protein differential expression in normal tissues from HIPED for ANKH Gene

This gene is overexpressed in Heart (50.3), Retina (9.4), and Frontal cortex (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with ANKH: view

Protein tissue co-expression partners for ANKH Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia ANKH 35
  • 99.46 (n)
  • 99.8 (a)
ANKH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankh 35
  • 89.57 (n)
  • 97.76 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKH 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKH 36
  • 94 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia ankh 35
  • 77.71 (n)
  • 91.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11973 35
zebrafish
(Danio rerio)
Actinopterygii ankh 35
ankhb 35
  • 75.47 (n)
  • 83.54 (a)
ankha 36
  • 76 (a)
OneToMany
ankhb 36
  • 82 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4440 35
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
VAR_012192 Craniometaphyseal dysplasia, autosomal dominant (CMDD)
VAR_012193 Craniometaphyseal dysplasia, autosomal dominant (CMDD)
VAR_012198 Craniometaphyseal dysplasia, autosomal dominant (CMDD)
VAR_017556 Chondrocalcinosis 2 (CCAL2)
VAR_022606 Chondrocalcinosis 2 (CCAL2)

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

Variation tolerance for ANKH Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.24% of all genes are more intolerant (likely to be disease-causing)

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

(17) MalaCards diseases for ANKH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
craniometaphyseal dysplasia
  • craniometaphyseal dysplasia, autosomal dominant
chondrocalcinosis 2
  • calcium gout
familial calcium pyrophosphate deposition
  • calcium pyrophosphate deposition disease
ankylosis
chondrocalcinosis
  • calcium pyrophosphate deposition disease
- elite association - COSMIC cancer census association via MalaCards
Search ANKH in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ANKH

Genetic Association Database (GAD)
ANKH
Human Genome Epidemiology (HuGE) Navigator
ANKH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKH
genes like me logo Genes that share disorders with ANKH: view

No data available for Genatlas for ANKH Gene

Publications for ANKH Gene

  1. 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 67
  2. 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 23
  3. Oxygen tension regulates the expression of ANK (progressive ankylosis) in an HIF-1-dependent manner in growth plate chondrocytes. (PMID: 19419319) Zaka R. … Williams C.J. (J. Bone Miner. Res. 2009) 3 23
  4. Cuff tear arthropathy: evidence of functional variation in pyrophosphate metabolism genes. (PMID: 17563703) Peach C.A. … Carr A.J. (Clin. Orthop. Relat. Res. 2007) 3 23
  5. Contribution of the putative genetic factors and ANKH gene polymorphisms to variation of circulating calciotropic molecules, PTH and BGP. (PMID: 17403715) Vistoropsky Y. … Livshits G. (Hum. Mol. Genet. 2007) 3 23

Products for ANKH Gene

Sources for ANKH Gene

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