SLC34A3 - solute carrier family 34 member 3 Gene

Homo sapiens

Also known as HHRH; NPTIIc

Gene ID: 142680 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13194	SLC34A3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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