Seroatlas · Human Serome Atlas

ANKH

Mineralization regulator ANKH

Also known as: ANK, ANKH_HUMAN, CCAL2, CMDJ, CPPDD, HANK, SLC62A1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9HCJ1
Gene
ANKH
Ensembl
ENSG00000154122
Chromosome
5
Canonical length
492 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

492 residues, UniProt reviewed canonical sequence.

>Q9HCJ1|ANKH
     1  MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA SYGLAYSLMK
    61  FFTGPMSDFK NVGLVFVNSK RDRTKAVLCM VVAGAIAAVF HTLIAYSDLG YYIINKLHHV
   121  DESVGSKTRR AFLYLAAFPF MDAMAWTHAG ILLKHKYSFL VGCASISDVI AQVVFVAILL
   181  HSHLECREPL LIPILSLYMG ALVRCTTLCL GYYKNIHDII PDRSGPELGG DATIRKMLSF
   241  WWPLALILAT QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY
   301  PAFDKNNPSN KLVSTSNTVT AAHIKKFTFV CMALSLTLCF VMFWTPNVSE KILIDIIGVD
   361  FAFAELCVVP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL APSSVLRIIV LIASLVVLPY
   421  LGVHGATLGV GSLLAGFVGE STMVAIAACY VYRKQKKKME NESATEGEDS AMTDMPPTEE
   481  VTDIVEMREE NE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANKH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
8
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 38 nTPM
  • blood vessel: 35 nTPM
  • tongue: 35 nTPM
  • cerebellum: 31 nTPM
  • prostate: 31 nTPM
  • heart muscle: 30 nTPM

Single-cell type

  • hofbauer cells: 1,155 nCPM
  • somatotrophs: 847 nCPM
  • thyrotrophs: 670 nCPM
  • lactotrophs: 614 nCPM
  • oocytes: 603 nCPM
  • prostatic glandular cells: 534 nCPM

Immune cell

  • T-reg: 4.6 nTPM
  • naive CD4 T-cell: 3.3 nTPM
  • memory CD4 T-cell: 2.9 nTPM
  • MAIT T-cell: 2.3 nTPM
  • memory CD8 T-cell: 2.3 nTPM
  • naive B-cell: 1.6 nTPM

Brain region

  • cerebellum: 68 nTPM
  • midbrain: 58 nTPM
  • cerebral cortex: 58 nTPM
  • white matter: 56 nTPM
  • choroid plexus: 54 nTPM
  • thalamus: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANKH.

Disease | AllUniProt

Conditions ANKH is implicated in, by any mechanism.

  • Chondrocalcinosis 2 (CCAL2) MIM:118600
  • Craniometaphyseal dysplasia, autosomal dominant (CMDD) MIM:123000

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 536 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Craniometaphyseal dysplasia, autosomal dominant
  • Chondrocalcinosis 2
  • CHONDROCALCINOSIS 2, SPORADIC
  • ANKH-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.5
gnomAD pLI
0.28
gnomAD missense Z
2.35
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Progressive ankylosis
  • Progressive ankylosis protein (ANKH)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ANKH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ANKH as an antibody target. Whether an autoantibody or antibody against ANKH could matter depends on whether native ANKH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ANKH is annotated at the cell surface, where native ANKH is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ANKH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ANKH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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