SLC34A1 - solute carrier family 34 member 1 Gene

Also Known as NPT2; FRTS2; SLC11; HCINF2; NAPI-3; NPTIIa; NPHLOP1; SLC17A2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6569

About SLC34A1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,384,434-177,412,021 (from NCBI)

This gene has 5 transcripts (splice variants), 238 orthologues, 2 paralogues and is associated with 7 phenotypes. Restricted expression toward kidney (RPKM 54.1).

Summary

This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SLC34A1 Products (2)

mRNA	Protein	Name
NM_001167579.2	NP_001161051.1	sodium-dependent phosphate transport protein 2A isoform 2
NM_003052.5	NP_003043.3	sodium-dependent phosphate transport protein 2A isoform 1

SLC34A1 Protein Structure

Na_Pi_cotrans

0
100
200
300
400
500
600
639 a.a.

Protein Preferred Names	Protein Names
sodium-dependent phosphate transport protein 2A	Na(+)-dependent phosphate cotransporter 2A

Related Diseases

Diseases	Alias
Hypercalcemia, Infantile, 2	HCINF2 Hypercalcemia, Infantile, Type 2
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemic Nephrolithiasis/Osteoporosis 1 NPHLOP1 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
Fanconi Renotubular Syndrome 2	FRTS2 Fanconi Renotubular Syndrome, Type 2
Idiopathic Infantile Hypercalcemia	Autosomal Recessive Infantile Hypercalcemia Iih Vitamin D Hypersensitivity Familial Infantile Hypercalcemia With Suppressed Intact Parathyroid Hormone
Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis
Angioedema, Hereditary, 3	Angioedema, Hereditary, Type Iii Hereditary Angioedema Type Iii Hereditary Angioedema Type 3 HAE3 Estrogen-Related Hae Estrogen-Sensitive Hae Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function Hae With Normal C1 Inhibitor Concentration And Function Hereditary Angioedema With Normal C1 Inhibitor Activity F12-Related Hereditary Angioedema With Normal C1inh F12-Related Hae With Normal C1 Inhibitor Hae 3 Hae-Iii Hereditary Angioneurotic Edema Type 3 Inherited Estrogen-Associated Angioedema Inherited Estrogen-Associated Angioneurotic Edema Inherited Estrogen-Dependent Angioedema Inherited Estrogen-Dependent Angioneurotic Edema Angioneurotic Edema Hereditary With Normal C1 Inhibitor Concentration And Function Hereditary Angioedema With Normal C1 Esterase Inhibitor Activity
Urticaria	Nettle Rash Hives Wheal Urticaria Nos
Angioedema	Angioneurotic Oedema Quincke'S Edema Angioneurotic Edema Giant Urticaria
Factor Xii Deficiency	Hageman Factor Deficiency Haf Deficiency Factor Xii Deficiency Disease F12 Deficiency Deficiency, Hageman Coagulation Factor 12 Deficiency Factor 12 Deficiency Congenital Factor Xii Deficiency Congenital Hageman Factor Deficiency FA12D Factor Xii Deficiency, Factor Xii
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hereditary Hypophosphatemic Rickets With Hypercalciuria HHRH Hypophosphatemic Rickets With Hypercalciuria Hypercalciuric Rickets
Angioedema, Hereditary, 1	Hereditary Angioedema Type I Hereditary Angioneurotic Edema Hane C1 Esterase Inhibitor Deficiency Angioedema, Hereditary, 1 And 2 HAE1 Angioneurotic Edema, Hereditary Angioedema, Hereditary, Type I Hereditary Angioedema Type 2 Hae 2 Hae-Ii Hereditary Angioneurotic Edema Type 2 Angioedema, Hereditary HAE Angioedema, Hereditary, Types I And Ii Hereditary Angioedema, Type Ii Angioedema, Hereditary, Type 1 Angioedemas, Hereditary Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor Hereditary Angioedema Types I And Ii
Hereditary Angioedema	Hereditary Angioneurotic Edema Hereditary Angioedema Type 1 Hane Angioedema, Hereditary Hae Angioedemas, Hereditary Deficiency Of C1 Esterase Inhibitor C1 Esterase Inhibitor Deficiency C1 Inhibitor Deficiency Familial Angioneurotic Edema Hereditary Bradykinine-Induced Angioedema Hereditary Non Histamine-Induced Angioedema Hae 1 Hae-I Hereditary Angioneurotic Edema Type 1 Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor Hereditary Angioedema Types I And Ii Hereditary Angioneurotic Oedema Familial Angioedema Hae - [Hereditary Angioneurotic Oedema] Bannister Disease, Hereditary Quincke Disease Or Oedema Hereditary Quincke Oedema
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Nephrocalcinosis	Hypercalcemic Nephropathy
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Hypercalcemia, Infantile, 1	HCINF1 Infantile Hypercalcemia Hypercalcemia Hypercalcemia, Idiopathic, Of Infancy Hypercalcemia Infantile Idiopathic Hypercalcemia Of Infancy Hypercalcemia, Infantile Hypercalcemia, Infantile, Type 1
Hyperphosphatemia
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Hypophosphatemic Nephrolithiasis/Osteoporosis	Nephrolithiasis/Osteoporosis, Hypophosphatemic
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Rickets X-Linked Recessive Hypophosphatemic Rickets XLRHR Hypophosphatemic Rickets Disorders Rickets Hypophosphatemic Rickets, Hypophosphatemic, X-Linked Recessive Familial Hypophosphatemic Rickets
Pulmonary Alveolar Microlithiasis	PULAM Pam
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Fanconi Renotubular Syndrome 1	Renal Fanconi Syndrome Adult Fanconi Syndrome FRTS1 Fanconi Renotubular Syndrome Frts Rfs Fanconi Syndrome Without Cystinosis Luder-Sheldon Syndrome
Osteomalacia	Adult Rickets
Nephrolithiasis, Calcium Oxalate	Kidney Stones Calculus Of Kidney Kidney Calculi Nephrolithiasis Renal Calculi Calcium Oxalate Urolithiasis CAON Urolithiasis, Calcium Oxalate Calcium Oxalate Nephrolithiasis Kidney Stone Nephrolith Renal Calculus Urinary Stones Renal Stone Calculus, Kidney Calculus, Renal Renal Lithiasis Renal Stones Urolithiasis Renal Calculus Or Stone Stone In Kidney Nephritic Calculus Multiple Kidney Calculi Multiple Kidney Calculus Nephrolithiasis Nos Pelvic Nephrolithiasis Pelviolithiasis Pelvis Nephrolithiasis
Vitamin D Hydroxylation-Deficient Rickets, Type 1b	VDDR1B Vitamin D-Dependent Rickets Type 1b Vitamin D-Dependent Rickets, Type 1b 25-Hydroxyvitamin D3 Deficiency, Selective Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency Rickets Vitamin D-Dependent 1b 25-Hydroxyvitamimn D3 Deficiency Selective 25-Hydroxyvitamin D(3) Deficiency Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency Selective 25-Hydroxyvitamin D(3) Deficiency Rickets Due To Defect In Vitamin D 25-Hydroxylation
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Vitamin D-Dependent Rickets	Vddr
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type Jansen'S Metaphyseal Chondrodysplasia MCDJ Murk Jansen Type Metaphyseal Chondrodysplasia Jansen Type Metaphyseal Chondrodysplasia Jansen Disease Jansen Metaphyseal Chondrodysplasia Jansen Metaphyseal Dysostosis Metaphyseal Chondrodysplasia Murk Jansen Type Chondrodysplasia, Metaphyseal, Murk Jansen Type
Aminoaciduria
Hypophosphatemic Rickets, X-Linked Dominant	X-Linked Hypophosphatemia Xlh Vitamin D-Resistant Rickets, X-Linked X-Linked Hypophosphatemic Rickets XLHR Hyp Hypophosphatemic Vitamin D-Resistant Rickets Hpdr X-Linked Dominant Hypophosphatemic Rickets Familial Hypophosphatemic Rickets Hypophosphatemia, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets Hypophosphatemic Rickets X-Linked Dominant X-Linked Vitamin D-Resistant Rickets Hypophophatemia, X-Linked Hypophophatemic Vitamin D-Resistant Rickets Hypophosphatemia X-Linked Vitamin D-Resistant Rickets X-Linked Vitamin D-Resistant Rickets Rickets, X-Linked Hypophosphatemic
Autosomal Recessive Hypophosphatemic Rickets	Arhr Hypophosphatemic Rickets, Autosomal Recessive Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
Dental Abscess
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112065	PF-06869206	Inhibitor	99.88%	Unkown
HY-RS13192	SLC34A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC34A1	MGD	MGI:1345284
Canis familiaris	SLC34A1	VGNC	VGNC:46358
Felis catus	SLC34A1	VGNC	VGNC:65316
Bos taurus	SLC34A1	VGNC	VGNC:34817
Macaca mulatta	SLC34A1	VGNC	VGNC:77458
Rattus norvegicus	SLC34A1	RGD	RGD:3708
Others	SLC34A1	NCBI