GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

SLC34A2 (solute carrier family 34 member 2)

Gene

10568

Solute carrier family 34 member 2

SLC34A2

NAPI-3B, NAPI-IIb, NPTIIb, NaPi2b, PULAM

4p15.2

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

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
NFIC	Activation	15458926

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	IBA	21873635
GO:0005436	Function	Sodium:phosphate symporter activity	IDA	10329428, 10610722, 12488042
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	10329428
GO:0005903	Component	Brush border	IBA	21873635
GO:0006817	Process	Phosphate ion transport	IDA	10329428, 10610722, 12488042
GO:0016021	Component	Integral component of membrane	IDA	10329428
GO:0016021	Component	Integral component of membrane	NAS	10610722
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	15970207
GO:0030643	Process	Cellular phosphate ion homeostasis	IBA	21873635
GO:0030643	Process	Cellular 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	21873635
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:0044267	Process	Cellular protein metabolic process	TAS
GO:0044341	Process	Sodium-dependent phosphate transport	IBA	21873635

MIM	HGNC	e!Ensembl
604217	11020	ENSG00000157765

Protein

UniProt ID

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

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)

Associated diseases

Show/Hide Causal Diseases (2)

Causal
Disease name	Disease term	dbSNP ID	References
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	22617245, 22919003
Pulmonary alveolar microlithiasis	Pulmonary Alveolar Microlithiasis	rs137853141, rs137853142, rs796065044	16960801, 15331184, 23164546, 20046000

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412