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 associa... See more...

Aliases for ANKH Gene

Aliases for ANKH Gene

  • ANKH Inorganic Pyrophosphate Transport Regulator 2 3 5
  • ANK 2 3 4
  • Progressive Ankylosis Protein Homolog 3 4
  • SLC62A1 2 3
  • CPPDD 2 3
  • HANK 2 3
  • Craniometaphyseal Dysplasia, Jackson Type (Dominant) 2
  • Ankylosis, Progressive (Mouse) Homolog 2
  • Ankylosis, Progressive Homolog (Mouse) 2
  • Ankylosis, Progressive Homolog 3
  • KIAA1581 4
  • CCAL2 3
  • CMDJ 3
  • MANK 3
  • ANKH 5

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, Autosomal Dominant 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. Gene Ontology (GO) annotations related to this gene include inorganic phosphate transmembrane transporter activity and inorganic diphosphate transmembrane transporter activity.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKH Gene

Genomics for ANKH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J014868 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 615.8 +1.0 994 5.5 RNF2 PRDM10 ZNF629 ZNF512 RFX1 CTCF ZNF692 ZIC2 RBFOX2 PATZ1 ANKH ENSG00000272057 piR-38537-041 OTULIN
GH05J014850 Enhancer 0.8 Ensembl ENCODE 24.8 +20.7 20677 4.6 PRDM10 ZNF600 KLF9 ZXDB OSR2 ZNF384 VEZF1 GLIS1 HLF ZNF362 ANKH piR-38537-041 OTULIN
GH05J014727 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 +143.6 143577 4.4 HNRNPL GATAD2A CTCF REST TFE3 SOX13 IKZF1 RCOR2 JUND ZNF143 ENSG00000286970 ANKH OTULIN TRIO FJ601678-007
GH05J014809 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11 +61.4 61371 2.3 SP1 BACH1 JUND STAT3 ZNF143 RELA TCF12 IKZF2 RCOR1 TRIM22 piR-39858-513 ANKH OTULIN OTULINL piR-48759-240
GH05J014684 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.7 +185.9 185874 3 CTCF ZNF143 REST RAD21 SP1 TRIM22 SCRT2 ARID3A RUNX3 YY1 ANKH OTULIN piR-47204 ENSG00000261360 LOC728178
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKH

Top Transcription factor binding sites by QIAGEN in the ANKH gene promoter:
  • AML1a
  • ATF6
  • CUTL1
  • E47
  • Egr-2
  • FOXO4
  • GR
  • GR-alpha
  • NF-1
  • NF-1/L

Genomic Locations for ANKH Gene

Genomic Locations for ANKH Gene
chr5:14,704,800-14,871,778
(GRCh38/hg38)
Size:
166,979 bases
Orientation:
Minus strand
chr5:14,704,909-14,871,887
(GRCh37/hg19)
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

Post-translational modifications for ANKH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKH Gene

No data available for DME Specific Peptides for ANKH Gene

Domains & Families for ANKH Gene

Gene Families for ANKH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ANKH Gene

InterPro:
Blocks:
  • Progressive ankylosis
ProtoNet:

Suggested Antigen Peptide Sequences for ANKH Gene

GenScript: Design optimal peptide antigens:
  • Progressive ankylosis protein homolog (ANKH_HUMAN)
  • cDNA FLJ10937 fis, clone OVARC1001034, highly similar to Progressive ankylosis protein homolog (B3KMG4_HUMAN)

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

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.

Phenotypes From GWAS Catalog for ANKH Gene

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 TAS --
genes like me logo Genes that share ontologies with ANKH: view
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:
  • Ank Ank<tm1.1Kng>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKH

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKH gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 11326272
GO:0019867 outer membrane TAS 11326272
genes like me logo Genes that share ontologies with ANKH: view

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

SIGNOR curated interactions for ANKH Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ANKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 10894769
GO:0006817 phosphate ion transport IEA --
GO:0007626 locomotory behavior NAS 10894769
GO:0030500 regulation of bone mineralization IEA,TAS 11326272
GO:0030505 inorganic diphosphate transport IEA --
genes like me logo Genes that share ontologies with ANKH: view

Drugs & Compounds for ANKH Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556

(2) 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

mRNA/cDNA for ANKH Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKH

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

No ASD Table

Relevant External Links for ANKH Gene

GeneLoc Exon Structure for
ANKH

Expression for ANKH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ANKH Gene



Protein tissue co-expression partners for ANKH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKH

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.

Evidence on tissue expression from TISSUES for ANKH Gene

  • Nervous system(4.9)
  • Muscle(2.5)
  • Eye(2.5)
  • Heart(2.3)
  • Liver(2.3)
  • Skin(2.2)
  • Kidney(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ANKH: view

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 30 31
  • 99.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKH 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ANKH 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ANKH 30 31
  • 90.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKH 30 31
  • 90.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ank 30 17 31
  • 89.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ankh 30
  • 89.57 (n)
Chicken
(Gallus gallus)
Aves ANKH 30 31
  • 83.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANKH 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ankh 30
  • 77.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11973 30
Zebrafish
(Danio rerio)
Actinopterygii ankha 31
  • 76 (a)
OneToMany
ankhb 30 31
  • 75.47 (n)
OneToMany
ankh 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4440 30
Species where no ortholog for ANKH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKH: view image

Paralogs for ANKH Gene

No data available for Paralogs for ANKH Gene

Variants for ANKH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKH Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
5193 Pathogenic: Craniometaphyseal dysplasia, autosomal dominant 14,713,671(-) T/C NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
743006 Benign: not provided 14,712,979(-) G/A NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
756003 Likely Benign: not provided 14,745,903(-) C/T SYNONYMOUS_VARIANT
764162 Likely Benign: not provided 14,716,776(-) G/T SYNONYMOUS_VARIANT
769645 Benign: Familial calcium pyrophosphate deposition; Craniometaphyseal dysplasia, autosomal dominant; not provided 14,758,543(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ANKH Gene

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

Variant ID Type Subtype PubMed ID
esv28799 CNV loss 19812545
esv3570001 CNV loss 25503493
esv3604098 CNV loss 21293372
nsv1018187 CNV gain 25217958
nsv1026914 CNV gain 25217958
nsv1112869 CNV deletion 24896259
nsv1148187 OTHER inversion 26484159
nsv4728 CNV insertion 18451855
nsv4729 CNV insertion 18451855
nsv597257 CNV gain 21841781
nsv597258 CNV gain 21841781
nsv830212 CNV loss 17160897
nsv968141 CNV duplication 23825009

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)

Additional Variant Information for ANKH Gene

Human Gene Mutation Database (HGMD)
ANKH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKH

SNP Genotyping and Copy Number Assay Products

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

Disorders for ANKH Gene

MalaCards: The human disease database

(23) MalaCards diseases for ANKH Gene - From: UniProtKB/Swiss-Prot, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
craniometaphyseal dysplasia, autosomal dominant
  • cmdd
chondrocalcinosis 2
  • ccal2
familial calcium pyrophosphate deposition
  • calcium pyrophosphate arthropathy
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.

Additional Disease Information for ANKH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 CJ … Brown MA (American journal of human genetics 2002) 2 3 4 23
  2. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. (PMID: 11326338) Reichenberger E … Olsen BR (American journal of human genetics 2001) 2 3 4 23
  3. Cuff tear arthropathy: evidence of functional variation in pyrophosphate metabolism genes. (PMID: 17563703) Peach CA … Carr AJ (Clinical orthopaedics and related research 2007) 3 23 41
  4. 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 (Human molecular genetics 2007) 3 23 41
  5. Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. (PMID: 15818664) Zhang Y … Brown MA (Arthritis and rheumatism 2005) 3 23 41

Products for ANKH Gene

Sources for ANKH Gene