2. Gene
  3. SLC20A2 - solute carrier family 20 member 2 Gene

SLC20A2 - solute carrier family 20 member 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 20 成员 2

种属: Homo sapiens

同用名: PIT2; RAM1; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR; PIT-2; Ram-1; GLVR-2

基因 ID: 6575 | 基因类型: protein coding

关于 SLC20A2

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,416,475-42,541,954 (from NCBI)

This gene has 14 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 23.3), heart (RPKM 12.0) and 24 other tissues.

功能概要

该基因编码无机磷酸盐转运蛋白家族的一个成员。编码的蛋白质是一种 3 型钠依赖性磷酸盐同向转运体，通过介导细胞磷酸盐摄取在磷酸盐稳态中发挥重要作用。编码的蛋白质还赋予对病毒感染的易感性作为伽马逆转录病毒受体。该基因的突变可能在家族性特发性基底神经节钙化中起作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 3 月]

This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral Infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

SLC20A2 基因产物(3)

mRNA Protein Name
NM_001257180.2 NP_001244109.1 sodium-dependent phosphate transporter 2
NM_001257181.2 NP_001244110.1 sodium-dependent phosphate transporter 2
NM_006749.5 NP_006740.1 sodium-dependent phosphate transporter 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sodium:phosphate symporter activity IDA
IDA: 通过直接分析推断
17494632 GOA
enables sodium:phosphate symporter activity IMP
IMP: 通过突变表型推断
12205090 GOA
enables virus receptor activity IMP
IMP: 通过突变表型推断
12205090 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IMP
IMP: 通过突变表型推断
28722801 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

SLC20A2 蛋白结构

PHO4

PHO4: Phosphate transporter family (24 - 637)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 652 a.a.
蛋白主名 其他名称

sodium-dependent phosphate transporter 2

epididymis secretory sperm binding protein

关联疾病

疾病名称 别名
Basal Ganglia Calcification, Idiopathic, 1

Primary Familial Brain Calcification

Pfbc

Bspdc

Bilateral Striopallidodentate Calcinosis

Cerebrovascular Ferrocalcinosis

IBGC1

Familial Idiopathic Basal Ganglia Calcification

Idiopathic Basal Ganglia Calcification 1

Striopallidodentate Calcinosis, Bilateral

Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset

Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset

Ferrocalcinosis, Cerebrovascular

Fahr Disease, Familial, Formerly

Basal Ganglia Calcification, Idiopathic, 3, Formerly

Ibgc3, Formerly

Basal Ganglia Calcification, Idiopathic, 2, Formerly

Ibgc2, Formerly

Fibgc

Striopallidodentate Calcinosis

Idiopathic Basal Ganglia Calcification

Ferrocalcinosis Cerebro Vascular

Autosomal Dominant Adult-Onset Striopallidodentate Calcinosis

Familial Fahr Disease

Ibgc2

Ibgc3

Idiopathic Basal Ganglia Calcification 2

Idiopathic Basal Ganglia Calcification 3

Non-Arteriosclerotic, Idiopathic, Adult-Onset Cerebral Calcification

Basal Ganglia Calcification, Idiopathic

Calcification, Basal Ganglia, Idiopathic

Calcification, Basal Ganglia, Idiopathic, Type 1

Fahr'S Syndrome
Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos
Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia
Kenny-Caffey Syndrome, Type 1

KCS1

Kenny-Caffey Syndrome Type 1

Autosomal Recessive Kenny-Caffey Syndrome

Kcs

Kenny-Caffey Syndrome, Autosomal Recessive

Kenny-Caffey Syndrome 1

Kenny-Caffey Syndrome Autosomal Recessive

Kenny-Caffey Syndrome-1
Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia

Oro-Facial Dyskinesia

Dyskinesias
Pulmonary Alveolar Microlithiasis

PULAM

Pam
Hypophosphatemic Rickets With Hypercalciuria, Hereditary

Hereditary Hypophosphatemic Rickets With Hypercalciuria

HHRH

Hypophosphatemic Rickets With Hypercalciuria

Hypercalciuric Rickets
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Aphasia
Glossopharyngeal Neuralgia

Glossopharyngeal Nerve Diseases
Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders

Disorder Of Phosphorus Metabolism

Phosphorus Disorder

Phosphorus Metabolism Disorder
Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis
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
Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism
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
Choreatic Disease

Chorea

Hereditary Chorea
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13060 SLC20A2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC20A2 RGD RGD:3699
Mus musculus SLC20A2 MGD MGI:97851
Felis catus SLC20A2 VGNC VGNC:65237
Macaca mulatta SLC20A2 VGNC VGNC:77416
Canis familiaris SLC20A2 VGNC VGNC:46269
Bos taurus SLC20A2 VGNC VGNC:34718
Others SLC20A2 NCBI
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