SLC20A2 - solute carrier family 20 member 2 Gene

Also Known as PIT2; RAM1; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR; PIT-2; Ram-1; GLVR-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6575

About SLC20A2

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,416,475-42,541,954 (from NCBI)

This gene has 14 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 23.3), heart (RPKM 12.0) and 24 other tissues.

Summary

This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral Infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

SLC20A2 Products (3)

mRNA Protein Name
NM_001257180.2 NP_001244109.1 sodium-dependent phosphate transporter 2
NM_001257181.2 NP_001244110.1 sodium-dependent phosphate transporter 2
NM_006749.5 NP_006740.1 sodium-dependent phosphate transporter 2
Molecular Function GO Annotation Evidence References Source
enables sodium:phosphate symporter activity IDA
IDA: Inferred from direct assay
17494632 GOA
enables sodium:phosphate symporter activity IMP
IMP: Inferred from mutant phenotype
12205090 GOA
enables virus receptor activity IMP
IMP: Inferred from mutant phenotype
12205090 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
28722801 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

SLC20A2 Protein Structure

PHO4

PHO4: Phosphate transporter family (24 - 637)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 652 a.a.
Protein Preferred Names Protein Names

sodium-dependent phosphate transporter 2

  • epididymis secretory sperm binding protein

Related Diseases

Diseases Alias
Basal Ganglia Calcification, Idiopathic, 1
  • Primary Familial Brain Calcification

  • Pfbc

  • Bspdc

  • Bilateral Striopallidodentate Calcinosis

  • Cerebrovascular Ferrocalcinosis

  • IBGC1

  • Familial Idiopathic Basal Ganglia Calcification

  • Idiopathic Basal Ganglia Calcification 1

  • Striopallidodentate Calcinosis, Bilateral

  • Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset

  • Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset

  • Ferrocalcinosis, Cerebrovascular

  • Fahr Disease, Familial, Formerly

  • Basal Ganglia Calcification, Idiopathic, 3, Formerly

  • Ibgc3, Formerly

  • Basal Ganglia Calcification, Idiopathic, 2, Formerly

  • Ibgc2, Formerly

  • Fibgc

  • Striopallidodentate Calcinosis

  • Idiopathic Basal Ganglia Calcification

  • Ferrocalcinosis Cerebro Vascular

  • Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis

  • Familial Fahr Disease

  • Ibgc2

  • Ibgc3

  • Idiopathic Basal Ganglia Calcification 2

  • Idiopathic Basal Ganglia Calcification 3

  • Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification

  • Basal Ganglia Calcification, Idiopathic

  • Calcification, Basal Ganglia, Idiopathic

  • Calcification, Basal Ganglia, Idiopathic, Type 1

  • Fahr'S Syndrome

Basal Ganglia Calcification
  • Fahr'S Syndrome

  • Fahr'S Disease

  • Fahr Disease

Leukemia
  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos

Basal Ganglia Disease
  • Basal Ganglia Diseases

  • Basal Ganglia Disorders

  • Abnormality Of The Basal Ganglia

Kenny-Caffey Syndrome, Type 1
  • KCS1

  • Kenny-Caffey Syndrome Type 1

  • Autosomal Recessive Kenny-Caffey Syndrome

  • Kcs

  • Kenny-Caffey Syndrome, Autosomal Recessive

  • Kenny-Caffey Syndrome 1

  • Kenny-Caffey Syndrome Autosomal Recessive

  • Kenny-Caffey Syndrome-1

Lingual-Facial-Buccal Dyskinesia
  • Orofacial Dyskinesia

  • Oro-Facial Dyskinesia

  • Dyskinesias

Pulmonary Alveolar Microlithiasis
  • PULAM

  • Pam

Hypophosphatemic Rickets With Hypercalciuria, Hereditary
  • Hereditary Hypophosphatemic Rickets With Hypercalciuria

  • HHRH

  • Hypophosphatemic Rickets With Hypercalciuria

  • Hypercalciuric Rickets

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Aphasia
Glossopharyngeal Neuralgia
  • Glossopharyngeal Nerve Diseases

Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

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

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Hypophosphatemic Rickets, X-Linked Dominant
  • X-Linked Hypophosphatemia

  • Xlh

  • Vitamin D-Resistant Rickets, X-Linked

  • X-Linked Hypophosphatemic Rickets

  • XLHR

  • Hyp

  • Hypophosphatemic Vitamin D-Resistant Rickets

  • Hpdr

  • X-Linked Dominant Hypophosphatemic Rickets

  • Familial Hypophosphatemic Rickets

  • Hypophosphatemia, X-Linked

  • Hypophosphatemia, Vitamin D-Resistant Rickets

  • Hypophosphatemic Rickets X-Linked Dominant

  • X-Linked Vitamin D-Resistant Rickets

  • Hypophophatemia, X-Linked

  • Hypophophatemic Vitamin D-Resistant Rickets

  • Hypophosphatemia X-Linked

  • Vitamin D-Resistant Rickets X-Linked

  • Vitamin D-Resistant Rickets

  • Rickets, X-Linked Hypophosphatemic

Choreatic Disease
  • Chorea

  • Hereditary Chorea

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SLC20A2 RGD RGD:3699
Mus musculus SLC20A2 MGD MGI:97851
Felis catus SLC20A2 VGNC VGNC:65237
Macaca mulatta SLC20A2 VGNC VGNC:77416
Canis familiaris SLC20A2 VGNC VGNC:46269
Bos taurus SLC20A2 VGNC VGNC:34718
Others SLC20A2 NCBI