ANKH - ANKH inorganic pyrophosphate transport regulator Gene

Also Known as ANK; CMDJ; HANK; MANK; CCAL2; CPPDD; SLC62A1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56172

About ANKH

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:14,704,800-14,871,778 (from NCBI)

This gene has 9 transcripts (splice variants), 222 orthologues and is associated with 6 phenotypes. Ubiquitous expression in prostate (RPKM 21.9), brain (RPKM 17.0) and 25 other tissues.

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]

ANKH Products (1)

mRNA	Protein	Name
NM_054027.6	NP_473368.1	progressive ankylosis protein homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP transmembrane transporter activity	IDA IDA: Inferred from direct assay	32639996	GOA
enables inorganic diphosphate transmembrane transporter activity	IDA IDA: Inferred from direct assay	11326272	GOA
enables phosphate transmembrane transporter activity	IDA IDA: Inferred from direct assay	11326272	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ATP export	IMP IMP: Inferred from mutant phenotype	32639996	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	11326272	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20943778	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKH Protein Structure

ANKH

0
100
200
300
400
492 a.a.

Protein Preferred Names	Protein Names
progressive ankylosis protein homolog	ankylosis, progressive homolog

Related Diseases

Diseases	Alias
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
Chondrocalcinosis 2	Calcium Pyrophosphate Arthropathy CCAL2 Calcium Gout Calcium Pyrophosphate Dihydrate Deposition Disease Cppdd Calcium Pyrophosphate Dihydrate Deposition Disease 2 Cppdd2 Chondrocalcinosis, Familial Articular Chondrocalcinosis Familial Articular Familial Articular Chondrocalcinosis Calcium Pyrophosphate Dihydrate Deposition Calcium Gout, Familial Calcium Pyrophosphate Arthropathy, Familial Familial Calcium Pyrophosphate Dihydrate Deposition Disease Pseudogout, Familial Chondrocalcinosis, Type 2
Familial Calcium Pyrophosphate Deposition	Calcium Pyrophosphate Dihydrate Crystal Deposition Disease Familial Cc Familial Cppd Familial Articular Chondrocalcinosis Hereditary Cc Hereditary Articular Chondrocalcinosis Hereditary Calcium Pyrophosphate Deposition Calcium Pyrophosphate Deposition Disease Calcium Pyrophosphate Arthropathy
Ankylosis
Chondrocalcinosis	Pseudogout Calcium Pyrophosphate Deposition Disease Familial Chondrocalcinosis Chondrocalcinosis Nos Cppd - [Calcium Pyrophosphate Deposition Disease] Cpdd - [Calcium Pyrophosphate Deposition Disease] Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site Chondrocalcinosis, Cause Unspecified Chondrocalcinosis Due To Pyrophosphate Crystals Chondrocalcinosis Articularis Calcium Pyrophosphate Arthritis And Periarthritis
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Calcinosis	Pathologic Calcification Pathologically Calcified Structure
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Craniodiaphyseal Dysplasia	CDD Schaefer Stein Oshman Syndrome Craniodiaphyseal Dysplasia, Dominant Dominantly Inherited Craniodiaphyseal Dysplasia
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Spondyloarthropathy 1	Ankylosing Spondylitis Spondyloarthropathy, Susceptibility To, 1 SPDA1 Marie-Strumpell Spondylitis Bechterew Syndrome Spa Spondylarthritis Ankylopoietica Reiter Syndrome Ankylosing Spondylitis, Susceptibility To Bekhterev Syndrome Bekhterev'S Disease Marie-Strumpell Disease Axial Spondylarthritis Bechterew Disease Marie-Struempell Disease Spondylitis Ankylopoietica Spondyloarthritis Spondyloarthritis Ankylopoietica Spas Ankylosing Spondylarthritis Psoriatic Arthritis Reactive Arthritis Rheumatoid Spondylitis Spondylitis Ankylosans Spondylitis Ankylosing Spondylitis, Ankylosing Spondylarthropathies Arthritis, Psoriatic Arthritis, Reactive
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Arterial Calcification Of Infancy	Idiopathic Infantile Arterial Calcification Generalized Arterial Calcification Of Infancy Iiac Occlusive Infantile Arteriopathy Infantile Arteriosclerosis Gaci Idiopathic Obliterative Arteriopathy Generalized Arterial Calcification In Infancy Arteriopathia Calcificans Infantum Diffuse Arterial Calcifying Elastopathy Of Infancy Infantile Calcifying Arteriopathy Medial Coronary Sclerosis Of Infancy Coronary Sclerosis, Medial, Of Infancy Calcification, Arterial, Generalized, Infancy
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Hypophosphatasia, Adult	Adult Hypophosphatasia Odontohypophosphatasia Hypophosphatasia, Mild HPPA Hypophosphatasia Mild Hypophosphatasia Adult Rathbun Disease Adult Phosphoethanolaminuria HOPS
Calcification Of Joints And Arteries	Hereditary Arterial And Articular Multiple Calcification Syndrome CALJA Arterial Calcification Due To Cd73 Deficiency Arterial Calcification Due To Deficiency Of Cd73 Acdc Arterial Calcification And Distal Joint Calcification Arterial Calcification Due To Deficiency Of Cd73:Acdc Calcification Of Joints And Arteries Calja
Camurati-Engelmann Disease	Progressive Diaphyseal Dysplasia Ced Engelmann Disease Diaphyseal Dysplasia 1, Progressive Pdd Diaphyseal Dysplasia Dpd1 Camurati-Engelmann Syndrome CAEND Engelman'S Disease Diaphyseal Hyperostosis Diaphyseal Osteosclerosis
Syndactyly, Type Iii	Syndactyly Type 3 SDTY3 Ring And Little Finger Syndactyly Syndactyly Of Fingers Iv And V Syndactyly Of Fingers 4 And 5 Ringand Little Finger Syndactyly Syndactyly Of Fingers Four And Five Syndactyly Of The Ring And Little Finger Sd3 Syndactyly 3 Syndactyly Type Iii 4-5 Finger Syndactyly Syndactyly, Type 3
Hypophosphatasia	Phosphoethanolaminuria Childhood Hypophosphatasia Deficiency Of Alkaline Phosphatase Hypophospatasia, Childhood Hypophosphatasia Mild Phosphoethanol-Aminuria Rathburn Disease Hpp Rathbun Disease Hypophosphatasia, Childhood Infantile Hypophosphatasia
Facial Paralysis	Facial Palsy Bell Palsy
Facial Nerve Disease	Facial Nerve Disorder Facial Nerve Diseases Neuropathy Of Facial Nerve Disorders Of 7th Cranial Nerve Disorders Of The Seventh Cranial Nerve

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00706	ANKH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24706	Ankh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ANKH	VGNC	VGNC:25901
Rattus norvegicus	ANKH	RGD	RGD:619925
Felis catus	ANKH	VGNC	VGNC:102158
Macaca mulatta	ANKH	VGNC	VGNC:69612
Canis familiaris	ANKH	VGNC	VGNC:50869
Mus musculus	ANKH	MGD	MGI:3045421
Others	ANKH	NCBI