1. Gene
  2. CALR3 - calreticulin 3 Gene

CALR3 - calreticulin 3 Gene

中文名称:钙网蛋白 3

种属: Homo sapiens

同用名: CRT2; CT93; CMH19

基因 ID: 125972 | 基因类型: protein coding

关于 CALR3

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,479,061-16,496,167 (from NCBI)

This gene has 3 transcripts (splice variants), 117 orthologues, 3 paralogues and is associated with 1 phenotype. Restricted expression toward testis (RPKM 33.9).

功能概要

该基因编码的蛋白质属于钙网蛋白家族,其成员是主要定位于内质网的钙结合分子伴侣。这种蛋白质也定位于内质网腔,但是,其钙结合能力可能不存在或远低于其他家族成员。该基因在睾丸中特异性表达,可能是精子生育所必需的。该基因的突变与家族性肥厚性心肌病有关。[RefSeq 提供,2011 年 12 月]

The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]

CALR3 基因产物(1)

mRNA Protein Name
NM_145046.5 NP_659483.2 calreticulin-3 precursor

CALR3 蛋白结构

Calreticulin

Calreticulin: Calreticulin family (21 - 318)

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

calreticulin-3

calreticulin-2

重组 CALR3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7712 Calreticulin-3/CALR3 Protein, Human Q96L12 (T20-L384) ≥95%

关联疾病

疾病名称 别名
Cardiomyopathy, Familial Hypertrophic, 14

Hypertrophic Cardiomyopathy 14

CMH14

Cardiomyopathy, Hypertrophic, 14

Cardiomyopathy Familial Hypertrophic 14

Cardiomyopathy, Familial Hypertrophic 14

Cardiomyopathy, Hypertrophic, Familial, Type 14

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Pulmonary Adenocarcinoma In Situ

Bronchioalveolar Carcinoma

Lung Carcinoma In Situ
Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

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
Canis familiaris CALR3 VGNC VGNC:38675
Macaca mulatta CALR3 VGNC VGNC:108487
Rattus norvegicus CALR3 RGD RGD:1309243
Mus musculus CALR3 MGD MGI:1920566
Felis catus CALR3 VGNC VGNC:69364
Bos taurus CALR3 VGNC VGNC:26716
Others CALR3 NCBI