1. Gene
  2. C2 - complement C2 Gene

C2 - complement C2 Gene

中文名称:补体 C2

种属: Homo sapiens

同用名: CO2; ARMD14

基因 ID: 717 | 基因类型: protein coding

关于 C2

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,897,783-31,945,672 (from NCBI)

This gene has 24 transcripts (splice variants), 1 gene allele, 85 orthologues, 39 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 95.8), lung (RPKM 36.7) and 11 other tissues.

功能概要

组分 C2 是一种血清糖蛋白,作为补体系统经典途径的一部分发挥作用。激活的 C1 将 C2 切割成 C2a 和 C2b。然后丝氨酸蛋白酶 C2a 与补体因子 4b 结合产生 C3 或 C5 转化酶。据报道,C2 缺陷与某些自身免疫性疾病有关,并且该基因中的 SNP 与年龄相关性黄斑变性的易感性改变有关。该基因定位于 6 号染色体短臂上 MHC 的 III 类区域。可变剪接导致编码不同亚型的多个转录变体。已在出版物中描述了其他转录变体,但尚未确定其全长序列。[RefSeq 提供,2009 年 3 月]

Component C2 is a serum glycoprotein that functions as part of the classical pathway of the Complement System. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]

C2 基因产物(6)

mRNA Protein Name
NM_000063.6 NP_000054.2 complement C2 isoform 1 preproprotein
NM_001145903.3 NP_001139375.1 complement C2 isoform 2 precursor
NM_001178063.3 NP_001171534.1 complement C2 isoform 3
NM_001282457.2 NP_001269386.1 complement C2 isoform 4
NM_001282458.2 NP_001269387.1 complement C2 isoform 5
NM_001282459.2 NP_001269388.1 complement C2 isoform 6 precursor

C2 蛋白结构

Sushi

Sushi: Sushi repeat (SCR repeat) (89 - 144)

Sushi

Sushi: Sushi repeat (SCR repeat) (151 - 204)

VWA

VWA: von Willebrand factor type A domain (254 - 452)

Trypsin

Trypsin: Trypsin (473 - 703)

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

complement C2

C3/C5 convertase

重组 C2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74375 C2/Complement C2 Protein, Human (HEK293, His) P06681 (A21-L752) ≥95%
HY-P74376 C2/Complement C2 Protein, Human (HEK293, Fc) P06681 (A21-L752) ≥95%

关联疾病

疾病名称 别名
Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2

Macular Degeneration, Age-Related, 14

Age Related Macular Degeneration 14

ARMD14

Macular Degeneration, Age-Related, 14, Reduced Risk Of

Macular Degeneration, Age-Related, Type 14

Immunodeficiency Due To A Classical Component Pathway Complement Deficiency

Immunodeficiency Due To C1, C4, Or C2 Component Complement Deficiency

Immunodeficiency Due To An Early Component Of Complement Deficiency

Retinal Drusen
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina

Degeneration Of Macula Or Posterior Pole

Macular Degeneration Nos

Degenerative Disorder Of Macula

Drusen Macular Degeneration

Posterior Pole Macular Degeneration Of Eye

Macular Eye Degeneration

Macular Degeneration Of Retina, Unspecified

Pseudohole Degeneration Of Macula Of Retina

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

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
Felis catus C2 VGNC VGNC:102387
Bos taurus C2 VGNC VGNC:53959
Mus musculus C2 MGD MGI:88226
Canis familiaris C2 VGNC VGNC:103663
Rattus norvegicus C2 RGD RGD:2231
Macaca fascicularis C2 NCBI NCBI:102137096
Macaca mulatta C2 NCBI NCBI:106997899
Others C2 NCBI