Human Gene ANKH (ENST00000284268.8_8) from GENCODE V47lift37
  Description: ANKH inorganic pyrophosphate transport regulator (from RefSeq NM_054027.6)
Gencode Transcript: ENST00000284268.8_8
Gencode Gene: ENSG00000154122.14_11
Transcript (Including UTRs)
   Position: hg19 chr5:14,704,909-14,871,887 Size: 166,979 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr5:14,711,306-14,871,556 Size: 160,251 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:14,704,909-14,871,887)mRNA (may differ from genome)Protein (492 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANKH_HUMAN
DESCRIPTION: RecName: Full=Progressive ankylosis protein homolog; Short=ANK;
FUNCTION: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.
DISEASE: Defects in ANKH are the cause of 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.
DISEASE: Defects in ANKH are the cause of craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]. CMDJ is a rare autosomal dominant skeletal disorder characterized by abnormal bone formation and mineralization in membranous as well as endochondral bones. Progressive thickening of the bones can cause narrowing of cranial foramina and can lead to severe visual and neurological impairment, such as facial palsy and deafness.
SIMILARITY: Belongs to the ANKH family.
SEQUENCE CAUTION: Sequence=BAB13407.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ANKH";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ANKH
Diseases sorted by gene-association score: craniometaphyseal dysplasia* (1721), chondrocalcinosis 2* (1351), familial calcium pyrophosphate deposition* (370), ankylosis (79), chondrocalcinosis (68), arthropathy (14), short-rib thoracic dysplasia 5 with or without polydactyly (9), hyperostosis (8), spondyloarthropathy 1 (8), periarthritis (7), calcinosis (7), osteochondrodysplasia (6), arthritis (6), pseudoxanthoma elasticum (6), facial nerve disease (5), facial paralysis (5), autosomal recessive non-syndromic intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.41 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 494.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.30331-0.415 Picture PostScript Text
3' UTR -1891.306397-0.296 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009887 - ANKH

Pfam Domains:
PF07260 - Progressive ankylosis protein (ANKH)

ModBase Predicted Comparative 3D Structure on Q9HCJ1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005315 inorganic phosphate transmembrane transporter activity
GO:0015114 phosphate ion transmembrane transporter activity
GO:0030504 inorganic diphosphate transmembrane transporter activity

Biological Process:
GO:0001501 skeletal system development
GO:0006817 phosphate ion transport
GO:0007626 locomotory behavior
GO:0030500 regulation of bone mineralization
GO:0030505 inorganic diphosphate transport
GO:0035435 phosphate ion transmembrane transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019867 outer membrane


-  Descriptions from all associated GenBank mRNAs
  AB046801 - Homo sapiens KIAA1581 mRNA for KIAA1581 protein.
BC014526 - Homo sapiens ankylosis, progressive homolog (mouse), mRNA (cDNA clone MGC:11142 IMAGE:3837372), complete cds.
AY358503 - Homo sapiens clone DNA39987 ANKH (UNQ241) mRNA, complete cds.
BC009835 - Homo sapiens ankylosis, progressive homolog (mouse), mRNA (cDNA clone MGC:15102 IMAGE:3927236), complete cds.
AF274753 - Homo sapiens progressive ankylosis-like protein (ANK) mRNA, complete cds.
AK315012 - Homo sapiens cDNA, FLJ95944, highly similar to Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), transcript variant 1, mRNA.
AB384242 - Synthetic construct DNA, clone: pF1KSDA1581, Homo sapiens ANKH gene for progressive ankylosis protein homolog, complete cds, without stop codon, in Flexi system.
DQ892588 - Synthetic construct clone IMAGE:100005218; FLH187815.01X; RZPDo839D05150D ankylosis, progressive homolog (mouse) (ANKH) gene, encodes complete protein.
DQ895806 - Synthetic construct Homo sapiens clone IMAGE:100010266; FLH187811.01L; RZPDo839D05149D ankylosis, progressive homolog (mouse) (ANKH) gene, encodes complete protein.
AK222631 - Homo sapiens mRNA for ankylosis, progressive homolog, clone: CBL03846.
AK054966 - Homo sapiens cDNA FLJ30404 fis, clone BRACE2008481.
AK001799 - Homo sapiens cDNA FLJ10937 fis, clone OVARC1001034, highly similar to Progressive ankylosis protein homolog.
JD531909 - Sequence 512933 from Patent EP1572962.
JD420975 - Sequence 401999 from Patent EP1572962.
JD340943 - Sequence 321967 from Patent EP1572962.
JD533107 - Sequence 514131 from Patent EP1572962.
JD327235 - Sequence 308259 from Patent EP1572962.
JD551554 - Sequence 532578 from Patent EP1572962.
JD543883 - Sequence 524907 from Patent EP1572962.
JD523408 - Sequence 504432 from Patent EP1572962.
JD351728 - Sequence 332752 from Patent EP1572962.
JD448326 - Sequence 429350 from Patent EP1572962.
JD332343 - Sequence 313367 from Patent EP1572962.
JD175909 - Sequence 156933 from Patent EP1572962.
JD138300 - Sequence 119324 from Patent EP1572962.
JD308907 - Sequence 289931 from Patent EP1572962.
JD332342 - Sequence 313366 from Patent EP1572962.
JD180224 - Sequence 161248 from Patent EP1572962.
JD223320 - Sequence 204344 from Patent EP1572962.
JD426386 - Sequence 407410 from Patent EP1572962.
JD225092 - Sequence 206116 from Patent EP1572962.
JD544449 - Sequence 525473 from Patent EP1572962.
JD051958 - Sequence 32982 from Patent EP1572962.
JD532943 - Sequence 513967 from Patent EP1572962.
JD361814 - Sequence 342838 from Patent EP1572962.
JD220441 - Sequence 201465 from Patent EP1572962.
JD380876 - Sequence 361900 from Patent EP1572962.
JD481205 - Sequence 462229 from Patent EP1572962.
JD038201 - Sequence 19225 from Patent EP1572962.
JD424598 - Sequence 405622 from Patent EP1572962.
JD284898 - Sequence 265922 from Patent EP1572962.
JD224433 - Sequence 205457 from Patent EP1572962.
JD547826 - Sequence 528850 from Patent EP1572962.
JD450236 - Sequence 431260 from Patent EP1572962.
JD206052 - Sequence 187076 from Patent EP1572962.
JD541130 - Sequence 522154 from Patent EP1572962.
JD478408 - Sequence 459432 from Patent EP1572962.
JD405015 - Sequence 386039 from Patent EP1572962.
AK130676 - Homo sapiens cDNA FLJ27166 fis, clone SYN01530, highly similar to Homo sapiens progressive ankylosis-like protein (ANK) mRNA.
JD511202 - Sequence 492226 from Patent EP1572962.
JD356783 - Sequence 337807 from Patent EP1572962.
JD227528 - Sequence 208552 from Patent EP1572962.
JD419979 - Sequence 401003 from Patent EP1572962.
JD323259 - Sequence 304283 from Patent EP1572962.
JD126256 - Sequence 107280 from Patent EP1572962.
JD180598 - Sequence 161622 from Patent EP1572962.
JD104649 - Sequence 85673 from Patent EP1572962.
JD452315 - Sequence 433339 from Patent EP1572962.
JD406353 - Sequence 387377 from Patent EP1572962.
JD461687 - Sequence 442711 from Patent EP1572962.
JD038872 - Sequence 19896 from Patent EP1572962.
JD547415 - Sequence 528439 from Patent EP1572962.
JD558044 - Sequence 539068 from Patent EP1572962.
JD390916 - Sequence 371940 from Patent EP1572962.
JD289262 - Sequence 270286 from Patent EP1572962.
JD214966 - Sequence 195990 from Patent EP1572962.
JD100788 - Sequence 81812 from Patent EP1572962.
AL833238 - Homo sapiens mRNA; cDNA DKFZp761J1919 (from clone DKFZp761J1919).
JD406965 - Sequence 387989 from Patent EP1572962.
JD448908 - Sequence 429932 from Patent EP1572962.
JD458517 - Sequence 439541 from Patent EP1572962.
JD057274 - Sequence 38298 from Patent EP1572962.
JD406801 - Sequence 387825 from Patent EP1572962.
JD461601 - Sequence 442625 from Patent EP1572962.
JD056228 - Sequence 37252 from Patent EP1572962.
JD458513 - Sequence 439537 from Patent EP1572962.
JD458514 - Sequence 439538 from Patent EP1572962.
JD271292 - Sequence 252316 from Patent EP1572962.
JD458511 - Sequence 439535 from Patent EP1572962.
JD458512 - Sequence 439536 from Patent EP1572962.
JD406055 - Sequence 387079 from Patent EP1572962.
JD458510 - Sequence 439534 from Patent EP1572962.
JD049002 - Sequence 30026 from Patent EP1572962.
JD271291 - Sequence 252315 from Patent EP1572962.
JD200352 - Sequence 181376 from Patent EP1572962.
JD272537 - Sequence 253561 from Patent EP1572962.
JD271290 - Sequence 252314 from Patent EP1572962.
JD200351 - Sequence 181375 from Patent EP1572962.
JD272536 - Sequence 253560 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HCJ1 (Reactome details) participates in the following event(s):

R-HSA-5226964 ANKH transports PPi from cytosol to extracellular region
R-HSA-5223345 Miscellaneous transport and binding events
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ANKH , ANKH_HUMAN, B2RCA7, B3KMG4, D3DTD4, ENST00000284268.1, ENST00000284268.2, ENST00000284268.3, ENST00000284268.4, ENST00000284268.5, ENST00000284268.6, ENST00000284268.7, KIAA1581, NM_054027, Q9HCJ1, Q9NQW2, uc317kel.1, uc317kel.2, UNQ241/PRO274
UCSC ID: ENST00000284268.8_8
RefSeq Accession: NM_054027.6
Protein: Q9HCJ1 (aka ANKH_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ANKH:
cranio-md (Craniometaphyseal Dysplasia, Autosomal Dominant)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.