2. Gene
  3. CAPN12 - calpain 12 Gene

CAPN12 - calpain 12 Gene

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

中文名称：钙蛋白酶 12

种属: Homo sapiens

基因 ID: 147968 | 基因类型: protein coding

关于 CAPN12

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:38,730,192-38,744,693 (from NCBI)

This gene has 12 transcripts (splice variants), 110 orthologues and 20 paralogues. Ubiquitous expression in gall bladder (RPKM 14.2), spleen (RPKM 9.8) and 25 other tissues.

功能概要

钙蛋白酶是钙激活的中性蛋白酶，是非溶酶体细胞内半胱氨酸蛋白酶。哺乳动物钙蛋白酶包括普遍存在的胃特异性和肌肉特异性蛋白质。无处不在的酶由异二聚体组成，这些异二聚体具有与共同的小调节亚基相关联的独特的大催化亚基。该基因编码钙蛋白酶大亚基家族的一个成员。[RefSeq 提供，2012 年 6 月]

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous Enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

CAPN12 基因产物(1)

mRNA Protein Name
NM_144691.4 NP_653292.2 calpain-12

CAPN12 蛋白结构

Peptidase_C2

Peptidase_C2: Calpain family cysteine protease (45 - 340)

Calpain_III

Calpain_III: Calpain large subunit, domain III (354 - 526)

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

calpain-12

CANP 12

关联疾病

疾病名称 别名
Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal
Temtamy Syndrome

TEMTYS

Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation

Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome

Dysmorphism, Corpus Callosum Agenesis And Colobomas

Temtamy-Shalash Syndrome

Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma
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-RS01886 CAPN12 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CAPN12 VGNC VGNC:103643
Macaca mulatta CAPN12 VGNC VGNC:70473
Bos taurus CAPN12 VGNC VGNC:26743
Rattus norvegicus CAPN12 RGD RGD:1307341
Felis catus CAPN12 VGNC VGNC:82319
Mus musculus CAPN12 MGD MGI:1891369
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z