SLC34A3 - solute carrier family 34 member 3 Gene

Also Known as HHRH; NPTIIc

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 142680

About SLC34A3

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,229,730-137,236,555 (from NCBI)

This gene has 5 transcripts (splice variants), 95 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 9.9) and small intestine (RPKM 2.9).

Summary

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 maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

SLC34A3 Products (3)

mRNA	Protein	Name
NM_001177316.2	NP_001170787.2	sodium-dependent phosphate transport protein 2C
NM_001177317.2	NP_001170788.2	sodium-dependent phosphate transport protein 2C
NM_080877.3	NP_543153.2	sodium-dependent phosphate transport protein 2C

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sodium:phosphate symporter activity	IDA IDA: Inferred from direct assay	11880379	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in intracellular phosphate ion homeostasis	IDA IDA: Inferred from direct assay	16358214	GOA
involved in phosphate ion transport	IDA IDA: Inferred from direct assay	11880379	GOA
involved in sodium ion transport	IDA IDA: Inferred from direct assay	11880379	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC34A3 Protein Structure

Na_Pi_cotrans

0
100
200
300
400
500
599 a.a.

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

SLC34A3 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SLC34A3	Q8N130	GPX8	Homo sapiens	Q8TED1	Y2H Array	32296183
Intra	SLC34A3	Q8N130	GPX8	Homo sapiens	Q8TED1	Y2H Prey Pooling	32296183
Intra	SLC34A3	Q8N130	GPX8	Homo sapiens	Q8TED1	Validated Y2H	32296183
Intra	SLC34A3	Q8N130	CLRN1	Homo sapiens	P58418	Y2H Array	32296183
Intra	SLC34A3	Q8N130	CLRN1	Homo sapiens	P58418	Y2H Prey Pooling	32296183
Intra	SLC34A3	Q8N130	TMEM167B	Homo sapiens	Q9NRX6	Y2H Array	32296183
Intra	SLC34A3	Q8N130	TMEM167B	Homo sapiens	Q9NRX6	Y2H Prey Pooling	32296183
Intra	SLC34A3	Q8N130	TMEM167B	Homo sapiens	Q9NRX6	Validated Y2H	32296183
Intra	SLC34A3	Q8N130	TMEM234	Homo sapiens	Q8WY98	Validated Y2H	32296183
Intra	SLC34A3	Q8N130	TMEM234	Homo sapiens	Q8WY98	Y2H Prey Pooling	32296183
Intra	SLC34A3	Q8N130	TMEM234	Homo sapiens	Q8WY98	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hereditary Hypophosphatemic Rickets With Hypercalciuria HHRH Hypophosphatemic Rickets With Hypercalciuria Hypercalciuric Rickets
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemic Nephrolithiasis/Osteoporosis 1 NPHLOP1 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
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
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
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
Fanconi Renotubular Syndrome 2	FRTS2 Fanconi Renotubular Syndrome, Type 2
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
Osteomalacia	Adult Rickets
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Hypercalciuria, Absorptive, 2	HCA2 Hypercalciuria, Absorptive, Susceptibility To Hypercalciuria, Absorptive Familial Idiopathic Hypercalciuria Hypercalciuria, Familial Idiopathic Hypercalciuria Absorptive 2 Hypercalciuria Familial Idiopathic Hypercalciuria, Absorptive, Type 2 Hypercalciuria
Hypophosphatemic Nephrolithiasis/Osteoporosis	Nephrolithiasis/Osteoporosis, Hypophosphatemic
Nephrocalcinosis	Hypercalcemic Nephropathy
Hypophosphatemic Rickets, Autosomal Dominant	Autosomal Dominant Hypophosphatemic Rickets ADHR Autosomal Dominant Hypophosphatemia Vitamin D-Resistant Rickets, Autosomal Dominant Hypophosphatemia, Autosomal Dominant Autosomal Dominant Vitamin D-Resistant Rickets Rickets, Hypophosphatemic, Autosomal Dominant
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
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemic Familial Tumoral Calcinosis Hftc Hyperostosis-Hyperphosphatemia Syndrome Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome Tumoral Calcinosis, Hyperphosphatemic, Familial Phptc Lipocalcinogranulomatosis Morbus Teutschlaender Hhs Hyperostosis With Hyperphosphatemia Cortical Hyperostosis With Hyperphosphatemia Primary Hyperphosphatemic Tumoral Calcinosis Familial Tumoral Calcinosis HFTC1 Hypercalcemic Tumoral Calcinosis Hyperphosphatemia Hyperostosis Hyperphosphatemia Hyperostosis Syndrome Hyperphosphatemia Tumoral Calcinosis Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Tumoral Calcinosis, Primary Hyperphosphatemic Teutschlaender Disease, Familial Familial Teutschlaender Disease Tumoral Calcinosis With Hyperphosphatemia Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome Ftc/Hhs Familial Tumoral Calcinosis With Hyperphosphatemia Teutschlaender Disease Tumoral Calcinosis Primary Hyperphosphatemic Calcinosis, Tumoral, Hyperphosphatemic, Familial
Dental Abscess
Chondrodysplasia, Blomstrand Type	Chondrodysplasia Blomstrand Type BOCD Blomstrand Lethal Chondrodysplasia Blomstrand Lethal Osteochondrodysplasia Blomstrand'S Lethal Chondrodysplasia Blc Blomstrand Chondrodysplasia Blomstrand Osteochondrodysplasia
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
Serous Labyrinthitis	Acute Serous Labyrinthitis
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
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
Blount'S Disease	Blount Disease Tibia Vara Osteochondrosis Deformans Tibiae Osteochondrosis Deformans Tibiae, Familial Infantile Type Familial Infantile Type Osteochondrosis Deformans Tibiae Blount-Barber Syndrome Erlacher-Blount Syndrome Infantile Tibia Vara Tibia Vara Blount Blount Disease, Infantile
Osteoglophonic Dysplasia	Osteoglophonic Dwarfism OGD Fairbank-Keats Syndrome Osteoglosphonic Dysplasia Dysplasia, Osteoglophonic
Vitamin D-Dependent Rickets	Vddr
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
Enthesopathy	Rheumatism
Arterial Calcification Of Infancy	Idiopathic Infantile Arterial Calcification Generalized Arterial Calcification Of Infancy Iiac Occlusive Infantile Arteriopathy Infantile Arteriosclerosis Gaci Idiopathic Obliterative Arteriopathy Generalized Arterial Calcification In Infancy Arteriopathia Calcificans Infantum Diffuse Arterial Calcifying Elastopathy Of Infancy Infantile Calcifying Arteriopathy Medial Coronary Sclerosis Of Infancy Coronary Sclerosis, Medial, Of Infancy Calcification, Arterial, Generalized, Infancy
Schimmelpenning-Feuerstein-Mims Syndrome	Nevus Sebaceus Of Jadassohn Organoid Nevus Phakomatosis Linear Nevus Sebaceous Syndrome Sfm Syndrome Jadassohn Nevus Phakomatosis Jnp Schimmelpenning Syndrome Solomon Syndrome SFM Linear Sebaceous Nevus Syndrome Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic Nevus Sebaceus Syndrome Organoid Nevus Syndrome Schimmelpenning Feuerstein Mims Syndrome Sebaceous Nevus Syndrome, Linear Epidermal Nevus Syndrome, Formerly Sebaceous Nevus Syndrome Linear Linear Nevus Sebaceus Syndrome Epidermal Nevus Syndrome Ss Nevus Sebaceous
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Vitamin D-Dependent Rickets, Type 2a	Hvdrr Generalized Resistance To 1,25-Dihydroxyvitamin D Hypocalcemic Vitamin D-Resistant Rickets VDDR2A Rickets, Hereditary Vitamin D-Resistant Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Pddr Iia Rickets-Alopecia Syndrome Rickets, Vitamin D-Resistant, Type Iia Vitamin D-Dependent Rickets Type 2a Vitamin D-Dependent Rickets, Type 2 Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia Generalized 1,25-Dihydroxyvitamin D Pseudovitamin D-Deficiency, Type Iia Hereditary Vitamin D-Resistant Rickets Vddr Ii Vdrr Ii Vitamin D-Dependent Rickets Type Ii Vitamin D-Resistant Rickets Type Ii Rickets Vitamin D-Dependent 2a Pseudovitamin D-Deficiency Type Iia Rickets Hereditary Vitamin D-Resistant Type Iia Rickets Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia Vitamin D-Dependent Rickets, Type Ii Familial Hypophosphatemic Rickets Hypophosphatemic Rickets, X-Linked Dominant

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13194	SLC34A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	SLC34A3	MGD	MGI:2159410
Rattus norvegicus	SLC34A3	RGD	RGD:708551
Canis familiaris	SLC34A3	VGNC	VGNC:49753
Felis catus	SLC34A3	VGNC	VGNC:65318
Bos taurus	SLC34A3	VGNC	VGNC:58411
Others	SLC34A3	NCBI