SLC20A2 solute carrier family 20 (phosphate transporter), member 2 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: SLC20A2provided by HGNC
Official Full Name: solute carrier family 20 (phosphate transporter), member 2provided by HGNC
Primary source: HGNC:10947
See related: Ensembl:ENSG00000168575; HPRD:08865; MIM:158378; Vega:OTTHUMG00000164169
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIT2; RAM1; GLVR2; IBGC3; MLVAR; PIT-2; GLVR-2
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]

Genomic context

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Location :: 8p11.21

Sequence :: Chromosome: 8; NC_000008.10 (42273980..42397356, complement)

See SLC20A2 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification.
Title: Genetics in arterial calcification: lessons learned from rare diseases.
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Title: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
the human PiT2 histidine, H(502), and the human PiT1 glutamate, E(70),--both conserved in eukaryotic PiT family members--are critical for P(i) transport function
Title: Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Analysis of kinetics and substrate specificity of SLC20A2.
Title: Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements.
forms assemblies at cell surface
Title: Pit2 assemblies at the cell surface are modulated by extracellular inorganic phosphate concentration.
Two highly conserved glutamate residues critical for sodium-dependent phosphate transport are revealed by uncoupling transport function from retroviral receptor function.
Title: Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function.
the presence of an aspartic acid in either of the PiT family signature sequences is critical for the Na+-dependent P(i) transport function of human PiT2
Title: Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2.
Results describe the characterization of transport mechanisms and determinants critical for sodium-dependent phosphate symport of the PiT family paralogs human PiT1 and PiT2.
Title: Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2.
structure activity relationship of deletion mutants of Pit2 retroviral receptor [Pit2]
Title: The central half of Pit2 is not required for its function as a retroviral receptor.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Basal ganglia calcification, idiopathic, 3

MIM: 614540

Genetic Testing Registry

Summary from GeneReviews: Basal Ganglia Calcification, Familial Idiopathic

Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the third to fifth decade with gradually progressive neuropsychiatric and movement disorders. The first manifestations often include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Seizures of various types occur frequently. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.

Diagnosis Testing

The diagnosis of FIBGC relies on visualization of bilateral calcification of the basal ganglia on neuroimaging; presence of progressive neurologic dysfunction; absence of metabolic, infectious, toxic, or traumatic cause; and a family history consistent with autosomal dominant inheritance. The gene or genes in which mutation is responsible for FIBGC are unknown. Linkage to chromosome 14q has been established in one family.

Genetic Counseling

Familial idiopathic basal ganglia calcification is inherited in an autosomal dominant manner. The proportion of cases caused by de novo gene mutations is unknown. Offspring of an affected individual have a 50% risk of being affected. Prenatal testing is not available.

References

PMID: 20301594

Fahr's syndrome

MIM: 213600

Genetic Testing Registry

Summary from GeneReviews: Basal Ganglia Calcification, Familial Idiopathic

Disease Characteristics

Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the third to fifth decade with gradually progressive neuropsychiatric and movement disorders. The first manifestations often include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Seizures of various types occur frequently. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.

Diagnosis Testing

The diagnosis of FIBGC relies on visualization of bilateral calcification of the basal ganglia on neuroimaging; presence of progressive neurologic dysfunction; absence of metabolic, infectious, toxic, or traumatic cause; and a family history consistent with autosomal dominant inheritance. The gene or genes in which mutation is responsible for FIBGC are unknown. Linkage to chromosome 14q has been established in one family.

Genetic Counseling

Familial idiopathic basal ganglia calcification is inherited in an autosomal dominant manner. The proportion of cases caused by de novo gene mutations is unknown. Offspring of an affected individual have a 50% risk of being affected. Prenatal testing is not available.

References

PMID: 20301594

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:112463	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
Sodium-coupled phosphate cotransporters, organism-specific biosystem (from REACTOME)
Sodium-coupled phosphate cotransporters, organism-specific biosystemPhosphorus is an essential element that is critical for structural and metabolic roles in all living organisms. Cells obtain phosphorus in the form of negatively-charged inorganic phosphate (Pi). Two...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

General gene information

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Markers

D8S1915 (e-PCR)
- UniSTS:19973

RH79257 (e-PCR)
- UniSTS:86798

D19S1068 (e-PCR)
- UniSTS:38691

RH99123 (e-PCR)
- UniSTS:89894

RH40591 (e-PCR)
- UniSTS:86312

D8S2042 (e-PCR)
- UniSTS:48

RH79839 (e-PCR)
- UniSTS:88403

D8S291E (e-PCR)
- UniSTS:81242

D8S1500 (e-PCR)
- UniSTS:57696

SHGC-37178 (e-PCR)
- UniSTS:5519

A005T02 (e-PCR)
- UniSTS:22683

D8S291E (e-PCR)
- UniSTS:147403

SLC20A2_1432 (e-PCR)
- UniSTS:277728

SLC20A2_v478 (e-PCR)
- UniSTS:277728

RH80329 (e-PCR)
- UniSTS:83696

Genotypes

Homology

Homologs of the SLC20A2 gene: The SLC20A2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, S.cerevisiae, K.lactis, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
inorganic phosphate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
receptor activity	TAS Traceable Author Statement more info	PubMed
sodium:phosphate symporter activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
ion transport	TAS Traceable Author Statement more info
transmembrane transport	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed
virus-host interaction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium-dependent phosphate transporter 2

Names: sodium-dependent phosphate transporter 2; gibbon ape leukemia virus receptor 2; murine leukemia virus, amphotropic, receptor for

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032161.1 RefSeqGene

Range

5001..128377

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001257180.1 → NP_001244109.1 sodium-dependent phosphate transporter 2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK291202, BC028600, H10927

Consensus CDS

CCDS6132.1

UniProtKB/Swiss-Prot

Q08357

Conserved Domains (1) summary

pfam01384
Location:483 – 637
Blast Score: 505

PHO4; Phosphate transporter family
NM_001257181.1 → NP_001244110.1 sodium-dependent phosphate transporter 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK295952, AK314774, BC028600, H10927

Consensus CDS

CCDS6132.1

UniProtKB/TrEMBL

B2RBR4

UniProtKB/TrEMBL

B4DJ71

UniProtKB/Swiss-Prot

Q08357

Conserved Domains (1) summary

pfam01384
Location:483 – 637
Blast Score: 505

PHO4; Phosphate transporter family
NM_006749.4 → NP_006740.1 sodium-dependent phosphate transporter 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

BC028600, DA418477, H10927, L20852

Consensus CDS

CCDS6132.1

UniProtKB/Swiss-Prot

Q08357

Related

ENSP00000340465, OTTHUMP00000226062, ENST00000342228, OTTHUMT00000377578

Conserved Domains (1) summary

pfam01384
Location:483 – 637
Blast Score: 505

PHO4; Phosphate transporter family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p10 Primary Assembly

Range

42273980..42397356, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

40797207..40919889, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018919.1 Alternate CHM1_1.0

Range

42343769..42467428, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01021155.1 (58125..59950)	None
genomic	ABBA01021156.1	None
genomic	ABBA01021157.1	None
genomic	ABBA01021158.1	None
genomic	ABBA01021159.1	None
genomic	AC090739.13 (158079..170579)	None
genomic	AC093367.9 (4632..63412)	None
genomic	AC107885.5 (111505..163298)	None
genomic	AMYH01018681.1 (29088..55914)	None
genomic	AMYH01018682.1	None
genomic	AMYH01018683.1	None
genomic	AMYH01018684.1	None
genomic	AMYH01018685.1	None
genomic	CH471080.2	EAW63213.1
		EAW63214.1
		EAW63215.1
mRNA	AK291202.1	BAF83891.1
mRNA	AK295952.1	BAG58733.1
mRNA	AK314774.1	BAG37311.1
mRNA	BC028600.2	AAH28600.1
mRNA	DA418477.1	None
mRNA	H10927.1	None
mRNA	L20852.1	AAA18018.1
other-genetic	DQ891538.2	ABM82464.1
other-genetic	DQ894727.2	ABM85653.1