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

Show/Hide all (3)

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)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs1714268814	RCV001374511	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PULMONARY ALVEOLAR MICROLITHIASIS	Likely pathogenic; Pathogenic	rs777320214, rs796065044, rs2474744592, rs2474755725, rs137853141, rs137853142, rs2474777637	RCV004760311 RCV000190366 RCV000006068 RCV000006069 RCV000006070 RCV000006071 RCV003989368 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC34A2-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25017204, 26156586, 28720066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28151475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21036732, 26546432, 28381172, 29415049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34944522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	34944522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26156586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28281971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28281971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28151475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25017204, 26910912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22430804, 23887297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29653487, 30038060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22430804, 28256713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30592329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	33326660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	23666413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	23666413		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	BEFREE	31585300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28281971, 31585300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35443721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25017204, 25691052, 31585300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21036732, 26546432, 28381172, 29415049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25017204, 26910912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23400546, 28114937, 29178392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28151475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22430804, 25017204, 26156586, 28151475, 28256713, 28720066, 29653487, 30592329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30868061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	30868061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	22617245, 22919003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25384172, 26156586, 26910912, 28720066, 29738763, 30755199, 31118036, 31585300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28777670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34944522	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Microlithiasis	Pulmonary Alveolar Microlithiasis	GENOMICS_ENGLAND_DG	15331184		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Alveolar Microlithiasis	Pulmonary Alveolar Microlithiasis	BEFREE	16960801, 17095743, 19329736, 22941890, 23164546, 29375690, 30542787, 31831582		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Alveolar Microlithiasis	Pulmonary Alveolar Microlithiasis	UNIPROT_DG	16960801		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Alveolar Microlithiasis	Pulmonary Alveolar Microlithiasis	ORPHANET_DG	20046000, 23164546		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary alveolar microlithiasis	Pulmonary Alveolar Microlithiasis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Alveolar Microlithiasis	Pulmonary Alveolar Microlithiasis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Alveolar Microlithiasis	Pulmonary Alveolar Microlithiasis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22430804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23400546, 28114937, 29178392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21179278, 34336552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32164602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28151475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC34A2 (solute carrier family 34 member 2)