2. Gene
  3. CA12 - carbonic anhydrase 12 Gene

CA12 - carbonic anhydrase 12 Gene

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

中文名称：碳酸酐酶 12

种属: Homo sapiens

同用名: CAXII; CA-XII; T18816; HsT18816

基因 ID: 771 | 基因类型: protein coding

关于 CA12

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:63,321,378-63,381,846 (from NCBI)

This gene has 6 transcripts (splice variants), 215 orthologues, 14 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 105.5), skin (RPKM 54.4) and 6 other tissues.

功能概要

碳酸酐酶 (CA) 是一大类锌金属酶，可催化二氧化碳的可逆水合。它们参与多种生物过程，包括呼吸、钙化、酸碱平衡、骨吸收以及房水、脑脊液、唾液和胃酸的形成。该基因产物是一种 I 型膜蛋白，在肾脏、结肠和胰腺等正常组织中高度表达，并且已发现在 10% 的透明细胞肾癌中过度表达。已经为该基因鉴定了编码不同亚型的三种转录物变体。[RefSeq 提供，2014 年 6 月]

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]

CA12 基因产物(4)

mRNA Protein Name
NM_206925.3 NP_996808.1 carbonic anhydrase 12 isoform 2 precursor
NM_001218.5 NP_001209.1 carbonic anhydrase 12 isoform 1 precursor
NM_001293642.2 NP_001280571.1 carbonic anhydrase 12 isoform 3 precursor
NR_135511.2

CA12 蛋白结构

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (32 - 289)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
蛋白主名 其他名称

carbonic anhydrase 12

carbonate dehydratase XII

carbonic anhydrase XII

carbonic dehydratase

tumor antigen HOM-RCC-3.1.3

重组 CA12 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71720 CA12/Carbonic Anhydrase 12 Protein, Human (P.pastoris, His) O43570 (25A-301S) ≥95%
HY-P72866 CA12/Carbonic Anhydrase 12 Protein, Human (HEK293, His) O43570 (A25-Q291) ≥95%

关联疾病

疾病名称 别名
Lung Leiomyoma

Pulmonary Leiomyoma

Leiomyoma Of Lung
Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence
Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive
Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis

Marble Brain Disease

OPTB3

Guibaud-Vainsel Syndrome

Carbonic Anhydrase Ii Deficiency

Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

Autosomal Recessive Osteopetrosis 3

Carbonic Anhydrase 2 Deficiency

Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

Osteopetrosis Autosomal Recessive 3

Autosomal Recessive Osteopetrosis Type 3

Guibaud Vainsel Syndrome

Mixed Rta

Mixed Renal Tubular Acidosis

Renal Tubular Acidosis Type 3

Carbonic Anhydrase Ii Deficiency Syndrome

Carbonic Anhydrase Ii Variant

Osteopetrosis, Autosomal Recessive, Type 3

Carbonic Anhydrase 2
Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary
Hyperchlorhidrosis, Isolated

Isolated Hyperchlorhidrosis

HYCHL

Carbonic Anhydrase Xii Deficiency
Non-Proliferative Fibrocystic Change Of The Breast

Non-Proliferative Fibrocystic Change

Breast Fibrocystic Change, Non-Proliferative Type
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-RS01765 CA12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CA12 VGNC VGNC:60242
Canis familiaris CA12 VGNC VGNC:38607
Macaca mulatta CA12 VGNC VGNC:70488
Mus musculus CA12 MGD MGI:1923709
Bos taurus CA12 VGNC VGNC:26650
Rattus norvegicus CA12 RGD RGD:1306612
Others CA12 NCBI
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