1. Gene
  2. SLC34A3 - solute carrier family 34 member 3 Gene

SLC34A3 - solute carrier family 34 member 3 Gene

中文名称:溶质载体家族 34 成员 3

种属: Homo sapiens

同用名: HHRH; NPTIIc

基因 ID: 142680 | 基因类型: protein coding

关于 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).

功能概要

该基因编码 SLC34A 转运蛋白家族的成员,主要在肾脏中表达。它参与通过肾刷状缘膜中的钠共转运将磷酸盐转运到细胞中,并有助于维持肾脏中的无机磷酸盐浓度。该基因的突变与伴有高钙尿症的遗传性低血磷性佝偻病有关。已发现该基因的 5' UTR 可变剪接转录本变体。[RefSeq 提供,2010 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sodium:phosphate symporter activity IDA
IDA: 通过直接分析推断
11880379 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular phosphate ion homeostasis IDA
IDA: 通过直接分析推断
16358214 GOA
involved in phosphate ion transport IDA
IDA: 通过直接分析推断
11880379 GOA
involved in sodium ion transport IDA
IDA: 通过直接分析推断
11880379 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC34A3 蛋白结构

Na_Pi_cotrans

Na_Pi_cotrans: Na+/Pi-cotransporter (85 - 211)

Na_Pi_cotrans

Na_Pi_cotrans: Na+/Pi-cotransporter (340 - 463)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 599 a.a.
蛋白主名 其他名称

sodium-dependent phosphate transport protein 2C

Na(+)-dependent phosphate cotransporter 2C

SLC34A3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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