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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	142680
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 34 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC34A3
Synonyms (NCBI Gene) Gene synonyms aliases	HHRH, NPT2C, NPTIIc
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HHRH
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenanc

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121918234	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs121918235	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121918236	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs121918237	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121918238	C>A,T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, synonymous variant, stop gained, coding sequence variant, missense variant
rs121918239	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs140869490	G>C	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant
rs144666114	T>C	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, downstream transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs146097023	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150841256	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs199536442	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199690076	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs201293634	T>C	Pathogenic	Splice donor variant
rs746082077	TGGGGCTGCAGTGGCAGCCCCAGCCCGGGC>-	Likely-pathogenic	Intron variant
rs762610288	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs765816079	->C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs768893184	G>A	Likely-pathogenic	Intron variant
rs777986863	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant, stop gained
rs794729658	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794729659	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044633	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1060499697	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796402	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796955	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs1554784044	AAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCC>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554784508	AGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCC>-	Pathogenic	Intron variant
rs1554785333	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1554785389	CGCTCCTGGGCCTG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005436	Function	Sodium:phosphate symporter activity	IBA	21873635
GO:0005436	Function	Sodium:phosphate symporter activity	IDA	11880379
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IBA	21873635
GO:0006814	Process	Sodium ion transport	IDA	11880379
GO:0006817	Process	Phosphate ion transport	IDA	11880379
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	ISS	11880379
GO:0030643	Process	Cellular phosphate ion homeostasis	IBA	21873635
GO:0030643	Process	Cellular phosphate ion homeostasis	IDA	16358214
GO:0031526	Component	Brush border membrane	IEA
GO:0031982	Component	Vesicle	IBA	21873635
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0044341	Process	Sodium-dependent phosphate transport	IBA	21873635

MIM	HGNC	e!Ensembl
609826	20305	ENSG00000198569

Protein

UniProt ID

Q8N130

Protein name

Sodium-dependent phosphate transport protein 2C (Sodium-phosphate transport protein 2C) (Na(+)-dependent phosphate cotransporter 2C) (Sodium/inorganic phosphate cotransporter IIC) (Sodium/phosphate cotransporter 2C) (Na(+)/Pi cotransporter 2C) (NaPi-2c) (

Protein function

Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:11880379). The cotransport has a Na(+):Pi stoichiometry of 2:1 and is electroneutral (By similarity). {ECO:0000250|UniProtKB:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02690	Na_Pi_cotrans	85 → 230	Na+/Pi-cotransporter	Family
PF02690	Na_Pi_cotrans	333 → 529	Na+/Pi-cotransporter	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed only in the kidney. {ECO:0000269|PubMed:11880379}.

Sequence

MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKEL
RVAGRLRRVAGSVLKACGLLGSLYFFICSLDVLSSAFQLLGSKVAGDIFKDNVVLSNPVA
GLVIGVLVTALVQSSSTSSSIVVSMVAAKLLTVRVSVPIIMGVNVGTSITSTLVSMAQSG
DRDEFQRAFSGSAVHGIFNWLTVLVLLPLESATALLERLSELALGAASLTPRAQAPDILK
VLTKPLTHLIVQLDSDMIMSSATGNATNSSLIKHWCGTTGQPTQENSSCGAFGPCTEKNS
TAPADRLPCRHLFAGTELTDLAVGCILLAGSLLVLCGCLVLIVKLLNSVLRGRVAQVVRT
VINADFPFPLGWLGGYLAVLAGAGLTFALQSSSVFTAAVVPLMGVGVISLDRAYPLLLGS
NIGTTTTALLAALASPADRMLSALQVALIHFFFNLAGILLWYLVPALRLPIPLARHFGVV
TARYRWVAGVYLLLGFLLLPLAAFGLSLAGGMELAAVGGPLVGLVLLVILVTVLQRRRPA
WLPVRLRSWAWLPVWLHSLEPWDRLVTRCCPCNVCSPPKATTKEAYCYENPEILASQQL

Sequence length

599

Interactions

View interactions

	KEGG		Reactome
	Parathyroid hormone synthesis, secretion and action Mineral absorption		Type II Na+/Pi cotransporters Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Hypophosphatemic rickets	Hypophosphatemic Rickets	rs104894347, rs28937882, rs587776696, rs587776697, rs587776698, rs121908248, rs587776797, rs121908249, rs193922701, rs193922702, rs886041227, rs886041363, rs886041296, rs886041369, rs866429868 View all (6 more)

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text Mining
Barakat syndrome	Associate	32155322
Bone Diseases	Associate	29809158
Bone Diseases Metabolic	Associate	39461557
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30798342
Familial Hypophosphatemic Rickets	Associate	18996815, 20074341, 29809158
Femoral Fractures	Associate	18996815
Flank Pain	Associate	18996815
Fractures Multiple	Associate	27939817
Genetic Diseases Inborn	Associate	37414395
Glycosuria Renal	Associate	30798342
Growth Disorders	Associate	29809158
Hypercalcemia Infantile	Associate	34125233
Hypercalciuria	Associate	16358214, 18523928, 18996815, 19820004, 20074341, 22387237, 22806288, 29809158, 32155322, 32311027, 39461557
Hypercalciuria Absorptive 2	Associate	22387237
Hypophosphatemia	Associate	22387237, 34721296, 37432176, 39461557
Hypophosphatemia Renal with Intracerebral Calcifications	Associate	18523928, 30798342
Hypophosphatemic Rickets Autosomal Dominant	Associate	32311027
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Associate	16358214, 18523928, 19820004, 20074341, 21344632, 22387237, 22672866, 22806288, 23246670, 24176905, 27939817, 29809158, 30798342, 32311027, 35689455, 38364990 View all (1 more)
Kidney Calculi	Associate	22387237, 29809158, 30798342, 32155322, 37432176, 39461557
Kidney Diseases	Associate	34721296
Lithiasis	Associate	34721296
Metabolic Diseases	Associate	18996815
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	35689455
Neoplastic Syndromes Hereditary	Associate	29505567
Nephrocalcinosis	Associate	18523928, 20074341, 22387237, 30798342, 34721296, 35689455, 39461557
Nephrolithiasis	Associate	18996815, 19820004, 21344632, 27939817
Nephrolithiasis Osteoporosis Hypophosphatemic 1	Associate	32311027
Osteomalacia	Associate	22387237, 39461557
Osteoporosis	Associate	29809158, 39461557
Rare Diseases	Associate	26789268
Renal Insufficiency Chronic	Associate	39461557
Rickets	Associate	22387237, 23246670, 39461557
Rickets Hypophosphatemic	Associate	18523928, 22695891, 26107949, 32155322, 32311027
Urinary Calculi	Associate	37414395
Vitamin D Deficiency	Associate	18523928, 29809158
Wasting Syndrome	Associate	22387237, 30798342, 32311027, 34721296, 39461557

SLC34A3 (solute carrier family 34 member 3)