ANKH Chromosome 5

ANKH inorganic pyrophosphate transport regulator

30 variants 30 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"MicroRNA protein coding host genes|Solute carrier family 62"

Locus Type

gene with protein product

Location

5p15.2

Ensembl

ENSG00000154122

Associated Conditions (7)

Chondrocalcinosis 2

ANKH-related disorder

Craniometaphyseal dysplasia

autosomal dominant

Inborn genetic diseases

CHONDROCALCINOSIS 2

SPORADIC

Key Variants

RS121908410

Conflicting classifications of pathogenicity

Chondrocalcinosis 2, ANKH-related disorder, Chondrocalcinosis 2

Health Risk

RS139013878

Conflicting classifications of pathogenicity

Health Risk

RS140150501

Conflicting classifications of pathogenicity

Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2

Health Risk

RS1407969814

Conflicting classifications of pathogenicity

Health Risk

RS148228793

Conflicting classifications of pathogenicity

Health Risk

RS148526515

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS187972211

Conflicting classifications of pathogenicity

Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant

Health Risk

RS199583793

Conflicting classifications of pathogenicity

Health Risk

RS199664007

Conflicting classifications of pathogenicity

Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant

Health Risk

RS199961741

Conflicting classifications of pathogenicity

Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2

Health Risk

RS200216941

Conflicting classifications of pathogenicity

Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant

Health Risk

RS544848340

Conflicting classifications of pathogenicity

Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant

Health Risk

All Variants (30)

RSID	Category	Clinical Significance	Conditions
RS121908410	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, ANKH-related disorder, Chondrocalcinosis 2
RS139013878	Health Risk	Conflicting classifications of pathogenicity	—
RS140150501	Health Risk	Conflicting classifications of pathogenicity	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2
RS1407969814	Health Risk	Conflicting classifications of pathogenicity	—
RS148228793	Health Risk	Conflicting classifications of pathogenicity	ANKH-related disorder, ANKH-related disorder
RS148526515	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS187972211	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS199583793	Health Risk	Conflicting classifications of pathogenicity	—
RS199664007	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS199961741	Health Risk	Conflicting classifications of pathogenicity	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2
RS200216941	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS544848340	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS550672520	Health Risk	Conflicting classifications of pathogenicity	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2
RS576051028	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS745669233	Health Risk	Conflicting classifications of pathogenicity	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2
RS761349696	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS761698657	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS777229764	Health Risk	Conflicting classifications of pathogenicity	—
RS886060088	Health Risk	Conflicting classifications of pathogenicity	Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant
RS121908409	Health Risk	Likely pathogenic	Chondrocalcinosis 2, Chondrocalcinosis 2
RS2477420066	Health Risk	Likely pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Craniometaphyseal dysplasia
RS28939080	Health Risk	Likely pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2
RS121908405	Health Risk	Pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2
RS121908407	Health Risk	Pathogenic	Chondrocalcinosis 2, Chondrocalcinosis 2
RS121908408	Health Risk	Pathogenic	CHONDROCALCINOSIS 2, SPORADIC, CHONDROCALCINOSIS 2
RS267606656	Health Risk	Pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Craniometaphyseal dysplasia
RS267606657	Health Risk	Pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Craniometaphyseal dysplasia
RS267606658	Health Risk	Pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Craniometaphyseal dysplasia
RS121908406	Health Risk	Pathogenic/Likely pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Craniometaphyseal dysplasia
RS1579998709	Health Risk	Pathogenic/Likely pathogenic	Craniometaphyseal dysplasia, autosomal dominant, Craniometaphyseal dysplasia