ANKH (ANKH inorganic pyrophosphate transport regulator)

2003-08-01 Affiliation

Identity

HGNC

ANKH

LOCATION

5p15.2

LOCUSID

56172

ALIAS

ANK,CCAL2,CMDJ,CPPDD,HANK,MANK,SLC62A1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 56172
MIM: 605145
HGNC: 15492
Ensembl: ENSG00000154122

Variants:

dbSNP: 56172
ClinVar: 56172
TCGA: ENSG00000154122
COSMIC: ANKH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000154122	ENST00000284268	Q9HCJ1
ENSG00000154122	ENST00000505140	D6RGI5
ENSG00000154122	ENST00000646501	A0A2R8Y5E7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Miscellaneous transport and binding events	REACTOME	R-HSA-5223345

References

Pubmed ID	Year	Title	Citations
12185249	2002	The program of androgen-responsive genes in neoplastic prostate epithelium.	151
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17186460	2006	Biochemical and genetic analysis of ANK in arthritis and bone disease.	44
12297987	2002	Mutations in ANKH cause chondrocalcinosis.	43
22437419	2012	Activation of nuclear factor-kappa B accelerates vascular calcification by inhibiting ankylosis protein homolog expression.	28
12297989	2002	Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.	20
13130483	2003	Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.	15
15818664	2005	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.	15
15818664	2005	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.	15
21149338	2011	A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).	15

Citation

Dessen P

ANKH (ANKH inorganic pyrophosphate transport regulator)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/643/ankh