1. Gene
  2. SLC34A2 - solute carrier family 34 member 2 Gene

SLC34A2 - solute carrier family 34 member 2 Gene

中文名称:溶质载体家族 34 成员 2

种属: Homo sapiens

同用名: PULAM; NPTIIb; NAPI-3B; NAPI-IIb

基因 ID: 10568 | 基因类型: protein coding

关于 SLC34A2

Cytogenetic location: 4p15.2 Genomic coordinates (GRCh38): 4:25,655,851-25,678,748 (from NCBI)

This gene has 7 transcripts (splice variants), 296 orthologues, 2 paralogues and is associated with 75 phenotypes. Restricted expression toward lung (RPKM 380.9).

功能概要

该基因编码的蛋白质是一种 pH 敏感的钠依赖性磷酸盐转运蛋白。在较低的 pH 值下磷酸盐吸收增加。该基因的缺陷是肺泡微石症的一个原因。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供,2010 年 5 月]

The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]

SLC34A2 基因产物(3)

mRNA Protein Name
NM_001177998.2 NP_001171469.2 sodium-dependent phosphate transport protein 2B isoform b
NM_001177999.2 NP_001171470.2 sodium-dependent phosphate transport protein 2B isoform b
NM_006424.3 NP_006415.3 sodium-dependent phosphate transport protein 2B isoform a

SLC34A2 蛋白结构

Na_Pi_cotrans

Na_Pi_cotrans: Na+/Pi-cotransporter (110 - 233)

Na_Pi_cotrans

Na_Pi_cotrans: Na+/Pi-cotransporter (380 - 505)

  • 0
  • 200
  • 400
  • 600
  • 690 a.a.
蛋白主名 其他名称

sodium-dependent phosphate transport protein 2B

sodium/phosphate cotransporter 2B

关联疾病

疾病名称 别名
Pulmonary Alveolar Microlithiasis

PULAM

Pam

Testicular Microlithiasis
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Baritosis

Deposition Of Barium In The Lungs

Inhalation Of Barytes

Pulmonary Hemosiderosis

Idiopathic Pulmonary Hemosiderosis

Alveolar Hypoventilation Syndrome

Brown Induration

Brown Lung

Siderosis

Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin

Byssinosis

Hypophosphatemic Rickets With Hypercalciuria, Hereditary

Hereditary Hypophosphatemic Rickets With Hypercalciuria

HHRH

Hypophosphatemic Rickets With Hypercalciuria

Hypercalciuric Rickets

Chronic Congestive Splenomegaly
Secondary Hypertrophic Osteoarthropathy

Osteoarthropathy, Secondary Hypertrophic

Bamberger-Marie Disease

Hpoa - Hypertrophic Pulmonary Osteoarthropathy

Hypertrophic Pulmonary Osteoarthropathy

Marie Bamberger Disease

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders

Disorder Of Phosphorus Metabolism

Phosphorus Disorder

Phosphorus Metabolism Disorder

Hyperlipoproteinemia, Type V

Hyperlipoproteinemia Type V

Hyperchylomicronemia, Late-Onset

Familial Type 5 Hyperlipoproteinemia

Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial

Hyperlipidemia, Type V

Hyperlipemia, Mixed

Hyperlipemia, Combined Fat And Carbohydrate-Induced

Familial Hyperlipoproteinemia Type V

Fredrickson Type V Lipaemia

Hyperlipoproteinemia Type 5

Hyperchylomicronemia Late Onset

Hyperlipemia Combined Fat And Carbohydrate-Induced

Hyperlipemia Mixed

Hyperlipidemia Type V

Mixed Hyperlipemia

Type V Hyperlipoproteinemia

Hyperlipoproteinemia 5

HLPP5

Hyperlipidemia, Familial Combined

Mixed Hyperlipidemia

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
Bos taurus SLC34A2 VGNC VGNC:34818
Felis catus SLC34A2 VGNC VGNC:65317
Macaca mulatta SLC34A2 VGNC VGNC:77459
Mus musculus SLC34A2 MGD MGI:1342284
Rattus norvegicus SLC34A2 RGD RGD:620889
Canis familiaris SLC34A2 VGNC VGNC:46359