Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10568
Gene name	Solute carrier family 34 member 2
Gene symbol	SLC34A2
Synonyms (NCBI Gene)	NAPI-3BNAPI-IIbNPTIIbNaPi2bPULAM
Chromosome	4
Chromosome location	4p15.2
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 i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137853141	C>T	Pathogenic	Stop gained, coding sequence variant
rs137853142	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs796065044	ACCTACCCACTCT>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (96)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017160	hsa-miR-335-5p	Microarray	18185580
MIRT029102	hsa-miR-26b-5p	Microarray	19088304
MIRT1360018	hsa-miR-1254	CLIP-seq
MIRT1360019	hsa-miR-1261	CLIP-seq
MIRT1360020	hsa-miR-140-5p	CLIP-seq
MIRT1360021	hsa-miR-3065-3p	CLIP-seq
MIRT1360022	hsa-miR-3116	CLIP-seq
MIRT1360023	hsa-miR-3122	CLIP-seq
MIRT1360024	hsa-miR-3689a-3p	CLIP-seq
MIRT1360025	hsa-miR-3689c	CLIP-seq
MIRT1360026	hsa-miR-3913-5p	CLIP-seq
MIRT1360027	hsa-miR-3929	CLIP-seq
MIRT1360028	hsa-miR-4419b	CLIP-seq
MIRT1360029	hsa-miR-4478	CLIP-seq
MIRT1360030	hsa-miR-4679	CLIP-seq
MIRT1360031	hsa-miR-4695-3p	CLIP-seq
MIRT1360032	hsa-miR-4728-5p	CLIP-seq
MIRT1360033	hsa-miR-4796-3p	CLIP-seq
MIRT1360034	hsa-miR-485-5p	CLIP-seq
MIRT1360035	hsa-miR-1273d	CLIP-seq
MIRT1360036	hsa-miR-1298	CLIP-seq
MIRT1360037	hsa-miR-299-5p	CLIP-seq
MIRT1360038	hsa-miR-4258	CLIP-seq
MIRT1360039	hsa-miR-4670-3p	CLIP-seq
MIRT1360040	hsa-miR-4684-5p	CLIP-seq
MIRT1360041	hsa-miR-4735-5p	CLIP-seq
MIRT1360042	hsa-miR-659	CLIP-seq
MIRT1360043	hsa-miR-9	CLIP-seq
MIRT1360044	hsa-miR-103a	CLIP-seq
MIRT1360045	hsa-miR-107	CLIP-seq
MIRT1360046	hsa-miR-3120-5p	CLIP-seq
MIRT1360047	hsa-miR-4476	CLIP-seq
MIRT1360048	hsa-miR-4639-3p	CLIP-seq
MIRT1360049	hsa-miR-4761-5p	CLIP-seq
MIRT1360050	hsa-miR-593	CLIP-seq
MIRT1360051	hsa-miR-7	CLIP-seq
MIRT1360052	hsa-miR-885-3p	CLIP-seq
MIRT1360036	hsa-miR-1298	CLIP-seq
MIRT1360023	hsa-miR-3122	CLIP-seq
MIRT2330835	hsa-miR-3169	CLIP-seq
MIRT1360024	hsa-miR-3689a-3p	CLIP-seq
MIRT1360025	hsa-miR-3689c	CLIP-seq
MIRT1360026	hsa-miR-3913-5p	CLIP-seq
MIRT1360027	hsa-miR-3929	CLIP-seq
MIRT1360028	hsa-miR-4419b	CLIP-seq
MIRT1360029	hsa-miR-4478	CLIP-seq
MIRT1360030	hsa-miR-4679	CLIP-seq
MIRT1360031	hsa-miR-4695-3p	CLIP-seq
MIRT2330836	hsa-miR-4723-5p	CLIP-seq
MIRT1360032	hsa-miR-4728-5p	CLIP-seq
MIRT1360034	hsa-miR-485-5p	CLIP-seq
MIRT2330837	hsa-miR-541	CLIP-seq
MIRT2330838	hsa-miR-654-5p	CLIP-seq
MIRT1360036	hsa-miR-1298	CLIP-seq
MIRT1360021	hsa-miR-3065-3p	CLIP-seq
MIRT1360023	hsa-miR-3122	CLIP-seq
MIRT2394726	hsa-miR-3688-3p	CLIP-seq
MIRT1360024	hsa-miR-3689a-3p	CLIP-seq
MIRT1360025	hsa-miR-3689c	CLIP-seq
MIRT1360026	hsa-miR-3913-5p	CLIP-seq
MIRT1360038	hsa-miR-4258	CLIP-seq
MIRT1360030	hsa-miR-4679	CLIP-seq
MIRT1360040	hsa-miR-4684-5p	CLIP-seq
MIRT1360031	hsa-miR-4695-3p	CLIP-seq
MIRT1360041	hsa-miR-4735-5p	CLIP-seq
MIRT1360021	hsa-miR-3065-3p	CLIP-seq
MIRT1360023	hsa-miR-3122	CLIP-seq
MIRT1360024	hsa-miR-3689a-3p	CLIP-seq
MIRT1360025	hsa-miR-3689c	CLIP-seq
MIRT1360026	hsa-miR-3913-5p	CLIP-seq
MIRT1360027	hsa-miR-3929	CLIP-seq
MIRT1360028	hsa-miR-4419b	CLIP-seq
MIRT1360029	hsa-miR-4478	CLIP-seq
MIRT1360030	hsa-miR-4679	CLIP-seq
MIRT1360031	hsa-miR-4695-3p	CLIP-seq
MIRT1360032	hsa-miR-4728-5p	CLIP-seq
MIRT1360034	hsa-miR-485-5p	CLIP-seq
MIRT2330837	hsa-miR-541	CLIP-seq
MIRT2330838	hsa-miR-654-5p	CLIP-seq
MIRT1360020	hsa-miR-140-5p	CLIP-seq
MIRT1360021	hsa-miR-3065-3p	CLIP-seq
MIRT1360023	hsa-miR-3122	CLIP-seq
MIRT1360024	hsa-miR-3689a-3p	CLIP-seq
MIRT1360025	hsa-miR-3689c	CLIP-seq
MIRT2691128	hsa-miR-376a	CLIP-seq
MIRT2691129	hsa-miR-376b	CLIP-seq
MIRT1360026	hsa-miR-3913-5p	CLIP-seq
MIRT1360027	hsa-miR-3929	CLIP-seq
MIRT1360028	hsa-miR-4419b	CLIP-seq
MIRT1360029	hsa-miR-4478	CLIP-seq
MIRT1360030	hsa-miR-4679	CLIP-seq
MIRT1360031	hsa-miR-4695-3p	CLIP-seq
MIRT1360032	hsa-miR-4728-5p	CLIP-seq
MIRT1360034	hsa-miR-485-5p	CLIP-seq
MIRT2330837	hsa-miR-541	CLIP-seq
MIRT2330838	hsa-miR-654-5p	CLIP-seq

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Transcription factor	Regulation	Reference
NFIC	Activation	15458926

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	IBA
GO:0005436	Function	Sodium:phosphate symporter activity	IDA	10329428, 10610722, 12488042
GO:0005436	Function	Sodium:phosphate symporter activity	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	10329428
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IBA
GO:0005903	Component	Brush border	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006817	Process	Phosphate ion transport	IDA	10329428, 10610722, 12488042
GO:0006817	Process	Phosphate ion transport	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0016020	Component	Membrane	IDA	10329428
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10610722
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	15970207
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030643	Process	Intracellular phosphate ion homeostasis	IBA
GO:0030643	Process	Intracellular phosphate ion homeostasis	IDA	10610722
GO:0031402	Function	Sodium ion binding	IDA	12488042
GO:0031526	Component	Brush border membrane	ISS
GO:0031982	Component	Vesicle	HDA	19190083
GO:0031982	Component	Vesicle	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042301	Function	Phosphate ion binding	IDA	12488042
GO:0043627	Process	Response to estrogen	IEP	12893629
GO:0044341	Process	Sodium-dependent phosphate transport	IBA
GO:0044341	Process	Sodium-dependent phosphate transport	IEA
GO:0055085	Process	Transmembrane transport	IEA

MIM	HGNC	e!Ensembl
604217	11020	ENSG00000157765

O95436

Protein name

Sodium-dependent phosphate transport protein 2B (Sodium-phosphate transport protein 2B) (Na(+)-dependent phosphate cotransporter 2B) (NaPi3b) (Sodium/phosphate cotransporter 2B) (Na(+)/Pi cotransporter 2B) (NaPi-2b) (Solute carrier family 34 member 2)

Protein function

Involved in actively transporting phosphate into cells via Na(+) cotransport.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02690	Na_Pi_cotrans	110 → 249	Na+/Pi-cotransporter	Family
PF02690	Na_Pi_cotrans	374 → 576	Na+/Pi-cotransporter	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in lung. Also detected in pancreas, kidney, small intestine, ovary, testis, prostate and mammary gland. In lung, it is found in alveolar type II cells but not in bronchiolar epithelium. {ECO:0000269|PubMed:10329428, EC

Sequence

MAPWPELGDAQPNPDKYLEGAAGQQPTAPDKSKETNKTDNTEAPVTKIELLPSYSTATLI
DEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSS
AFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSSTSTSIVVSMVSSSLLTVRA
AIPIIMGANIGTSITNTIVALMQVGDRSEFRRAFAGATVHDFFNWLSVLVLLPVEVATHY
LEIITQLIVESFHFKNGEDAPDLLKVITKPFTKLIVQLDKKVISQIAMNDEKAKNKSLVK
IWCKTFTNKTQINVTVPSTANCTSPSLCWTDGIQNWTMKNVTYKENIAKCQHIFVNFHLP
DLAVGTILLILSLLVLCGCLIMIVKILGSVLKGQVATVIKKTINTDFPFPFAWLTGYLAI
LVGAGMTFIVQSSSVFTSALTPLIGIGVITIERAYPLTLGSNIGTTTTAILAALASPGNA
LRSSLQIALCHFFFNISGILLWYPIPFTRLPIRMAKGLGNISAKYRWFAVFYLIIFFFLI
PLTVFGLSLAGWRVLVGVGVPVVFIIILVLCLRLLQSRCPRVLPKKLQNWNFLPLWMRSL
KPWDAVVSKFTGCFQMRCCCCCRVCCRACCLLCDCPKCCRCSKCCEDLEEAQEGQDVPVK
APETFDNITISREAQGEVPASDSKTECTAL

Sequence length

690

Interactions

View interactions

	KEGG		Reactome
	Parathyroid hormone synthesis, secretion and action Mineral absorption		Type II Na+/Pi cotransporters Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) Surfactant metabolism Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs1714268814	RCV001374511
PULMONARY ALVEOLAR MICROLITHIASIS	Likely pathogenic; Pathogenic	rs777320214, rs796065044, rs2474744592, rs2474755725, rs137853141, rs137853142, rs2474777637	RCV004760311 RCV000190366 RCV000006068 RCV000006069 RCV000006070 RCV000006071 RCV003989368

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Lung cancer	Conflicting classifications of pathogenicity	rs191211377	RCV005928726
SLC34A2-related disorder	Benign; Likely benign; Uncertain significance	rs34723230, rs202236441, rs114389632, rs141191689, rs777027111, rs2474755926, rs769110830, rs79937695, rs76404281	RCV003923448 RCV003943521 RCV003926472 RCV003901297 RCV003907149 RCV003949475 RCV003959864 RCV003905963 RCV003962886

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	25017204, 26156586
Adenocarcinoma of Lung	Associate	28720066
Breast Neoplasms	Associate	34944522
Cancer Pain	Associate	34944522
Carcinogenesis	Associate	26156586
Carcinoma Hepatocellular	Associate	28281971
Carcinoma Non Small Cell Lung	Associate	22617245, 25384172, 28720066, 31118036, 38070598
Carcinoma Non Small Cell Lung	Inhibit	26156586
Carcinoma Renal Cell	Associate	22430804, 23887297
Death	Associate	23400546
Hereditary Breast and Ovarian Cancer Syndrome	Associate	33326660
Lung Diseases	Associate	35443721
Lung Neoplasms	Associate	25017204, 25691052, 31585300
Neoplasm Metastasis	Inhibit	26156586
Neoplasms	Associate	22430804, 26992220, 28151475, 28281971, 28720066, 30868061, 32164602, 33326660, 34336552, 34944522, 35437317
Neoplasms	Inhibit	25017204, 26156586
Neuroblastoma	Associate	30868061
Ovarian Neoplasms	Stimulate	34944522
Pulmonary Alveolar Microlithiasis	Associate	16960801, 30904891, 31831582, 34581165, 35443721
Testicular Microlithiasis	Associate	16960801
Thyroid Cancer Papillary	Associate	21179278, 34336552
Thyroid Neoplasms	Associate	32164602
Thyroid Nodule	Associate	32164602
Urinary Bladder Neoplasms	Associate	28151475

SLC34A2 (solute carrier family 34 member 2)