Tissue expression of ANKH - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	ANKH
Gene description	ANKH inorganic pyrophosphate transport regulator
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	ANKH (HGNC Symbol)
Synonyms	ANK, CCAL2, CMDJ, CPPDD, HANK
Description	ANKH inorganic pyrophosphate transport regulator (HGNC Symbol)
Entrez gene summary	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]
Chromosome	5
Cytoband	p15.2
Chromosome location (bp)	14704804 - 14871778
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000154122 (version 83.38)
Entrez gene	56172
UniProt	Q9HCJ1 (UniProt - Evidence at protein level)
neXtProt	NX_Q9HCJ1
Antibodypedia	ANKH antibodies

PROTEIN BROWSER

ANKH-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ANKH-001 ENSP00000284268 ENST00000284268	Q9HCJ1 [Direct mapping] Progressive ankylosis protein homolog Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005315 [inorganic phosphate transmembrane transporter activity] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0007626 [locomotory behavior] GO:0015114 [phosphate ion transmembrane transporter activity] GO:0016021 [integral component of membrane] GO:0019867 [outer membrane] GO:0030500 [regulation of bone mineralization] GO:0030504 [inorganic diphosphate transmembrane transporter activity] GO:0030505 [inorganic diphosphate transport] GO:0035435 [phosphate ion transmembrane transport] GO:0055085 [transmembrane transport] Show all	492 aa 54.2 kDa	No	9