SLC34A2 solute carrier family 34 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC34A2provided by HGNC
Official Full Name: solute carrier family 34 member 2provided by HGNC
Primary source: HGNC:HGNC:11020
See related: Ensembl:ENSG00000157765 MIM:604217; AllianceGenome:HGNC:11020
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: PULAM; NPTIIb; NaPi2b; NAPI-3B; NAPI-IIb
Summary: The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Expression: Restricted expression toward lung (RPKM 380.9) See more
Orthologs: mouse all
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Genomic context

Location:: 4p15.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (25655851..25678748)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (25637821..25660720)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (25657473..25680370)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.
Title: New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.
Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis.
Title: Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis.
Characterization of SLC34A2 as a Potential Prognostic Marker of Oncological Diseases.
Title: Characterization of SLC34A2 as a Potential Prognostic Marker of Oncological Diseases.
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.
Title: Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.
SLC34A2 simultaneously promotes papillary thyroid carcinoma growth and invasion through distinct mechanisms.
Title: SLC34A2 simultaneously promotes papillary thyroid carcinoma growth and invasion through distinct mechanisms.
Phase Ia Study of Anti-NaPi2b Antibody-Drug Conjugate Lifastuzumab Vedotin DNIB0600A in Patients with Non-Small Cell Lung Cancer and Platinum-Resistant Ovarian Cancer.
Title: Phase Ia Study of Anti-NaPi2b Antibody-Drug Conjugate Lifastuzumab Vedotin DNIB0600A in Patients with Non-Small Cell Lung Cancer and Platinum-Resistant Ovarian Cancer.
Findings suggest that solute carrier 34 A2 (SLC34A2) might be a potential therapeutic target for the therapy of glioma patients.
Title: Knockdown of SLC34A2 inhibits cell proliferation, metastasis, and elevates chemosensitivity in glioma.
he SLC34A2-ROS-HIF-1-induced overexpression of EZH2 promotes colorectal cancer (CRC) cells proliferation and chemo-resistance to apoptosis. SLC34A2-ROS-HIF-1-EZH2 signaling pathway might serve as a novel therapeutic target against CRC.
Title: The SLC34A2-ROS-HIF-1-induced up-regulation of EZH2 expression promotes proliferation and chemo-resistance to apoptosis in colorectal cancer.
The results demonstrate that miR-25/Gsk3beta-mediated activation of Wnt signaling is responsible for SLC34A2-induced enhancement of neuroblastoma cell stemness.
Title: SLC34A2 promotes neuroblastoma cell stemness via enhancement of miR-25/Gsk3β-mediated activation of Wnt/β-catenin signaling.
SLC34A2 regulated sphere formation and self-renewal properties of CD44(+) gastric cancer stem cell-like cells (GCSCs), in vitro and in vivo. Mechanistic investigations revealed that Gsk3beta was the most strikingly up-regulated gene in response to SLC34A2 knockdown in GCSCs and Wnt/beta-cantenin signaling was required for SLC34A2-mediated sphere formation.
Title: SLC34A2 regulates miR-25-Gsk3β signaling pathway to affect tumor progression in gastric cancer stem cell-like cells.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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

Associated conditions

Description	Tests
PULMONARY ALVEOLAR MICROLITHIASIS MedGen: C0155912 OMIM: 265100 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A001V25 (e-PCR)
- UniSTS:27930

SHGC-51145 (e-PCR)
- UniSTS:47693

D4S1384 (e-PCR)
- UniSTS:17501

G15986 (e-PCR)
- UniSTS:18086

SLC34A2_7976 (e-PCR)
- UniSTS:467892

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphate ion binding	IDA Inferred from Direct Assay more info	PubMed
enables sodium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables sodium:phosphate symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:phosphate symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium:phosphate symporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in intracellular phosphate ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular phosphate ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphate ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein metabolic process	TAS Traceable Author Statement more info
involved_in response to estrogen	IEP Inferred from Expression Pattern more info	PubMed
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium-dependent phosphate transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in brush border	IBA Inferred from Biological aspect of Ancestor more info
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in vesicle	HDA more info	PubMed
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: sodium-dependent phosphate transport protein 2B

Names: sodium/phosphate cotransporter 2B; solute carrier family 34 (sodium phosphate), member 2; solute carrier family 34 (type II sodium/phosphate cotransporter), member 2; type II sodium-dependent phosphate transporter 3b

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_021185.2 RefSeqGene

Range

5002..27899

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001177998.2 → NP_001171469.2 sodium-dependent phosphate transport protein 2B isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).

Source sequence(s)

AC092436

Consensus CDS

CCDS54750.1

UniProtKB/TrEMBL

A8K9G0

Related

ENSP00000425501.1, ENST00000504570.5

Conserved Domains (1) summary

TIGR01013
Location:104 → 603

2a58; Phosphate:Na+ Symporter (PNaS) Family
NM_001177999.2 → NP_001171470.2 sodium-dependent phosphate transport protein 2B isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).

Source sequence(s)

AC092436

Consensus CDS

CCDS54750.1

UniProtKB/TrEMBL

A8K9G0

Related

ENSP00000423021.1, ENST00000503434.5

Conserved Domains (1) summary

TIGR01013
Location:104 → 603

2a58; Phosphate:Na+ Symporter (PNaS) Family
NM_006424.3 → NP_006415.3 sodium-dependent phosphate transport protein 2B isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC092436

Consensus CDS

CCDS3435.1

UniProtKB/Swiss-Prot

A5PL17, O95436, Q8N2K2, Q8WYA9, Q9P0V7

UniProtKB/TrEMBL

A0A0B5E3E9

Related

ENSP00000371483.3, ENST00000382051.8

Conserved Domains (1) summary

TIGR01013
Location:105 → 604

2a58; Phosphate:Na+ Symporter (PNaS) Family