1. Gene
  2. CSMD2 - CUB and Sushi multiple domains 2 Gene

CSMD2 - CUB and Sushi multiple domains 2 Gene

中文名称:CUB 和 Sushi 多个域 2

种属: Homo sapiens

同用名: dJ947L8.1; dJ1007G16.1; dJ1007G16.2

基因 ID: 114784 | 基因类型: protein coding

关于 CSMD2

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:33,513,998-34,165,842 (from NCBI)

This gene has 9 transcripts (splice variants), 138 orthologues and 39 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质被认为参与了免疫系统补体级联的控制。该基因的缺陷与精神分裂症有关。该基因可能作为结直肠癌的肿瘤抑制因子。[RefSeq 提供,2020 年 1 月]

The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal Cancer. [provided by RefSeq, Jan 2020]

CSMD2 基因产物(2)

mRNA Protein Name
NM_001281956.2 NP_001268885.1 CUB and sushi domain-containing protein 2 isoform 1
NM_052896.5 NP_443128.2 CUB and sushi domain-containing protein 2 isoform 2

CSMD2 蛋白结构

CUB

CUB: CUB domain (26 - 131)

Sushi

Sushi: Sushi repeat (SCR repeat) (139 - 196)

CUB

CUB: CUB domain (202 - 303)

Sushi

Sushi: Sushi repeat (SCR repeat) (343 - 400)

CUB

CUB: CUB domain (405 - 513)

Sushi

Sushi: Sushi repeat (SCR repeat) (521 - 574)

CUB

CUB: CUB domain (578 - 683)

Sushi

Sushi: Sushi repeat (SCR repeat) (691 - 748)

CUB

CUB: CUB domain (752 - 857)

Sushi

Sushi: Sushi repeat (SCR repeat) (867 - 920)

CUB

CUB: CUB domain (924 - 1031)

Sushi

Sushi: Sushi repeat (SCR repeat) (1039 - 1094)

CUB

CUB: CUB domain (1098 - 1203)

Sushi

Sushi: Sushi repeat (SCR repeat) (1211 - 1267)

CUB

CUB: CUB domain (1271 - 1377)

Sushi

Sushi: Sushi repeat (SCR repeat) (1385 - 1441)

CUB

CUB: CUB domain (1445 - 1550)

Sushi

Sushi: Sushi repeat (SCR repeat) (1558 - 1615)

CUB

CUB: CUB domain (1619 - 1724)

Sushi

Sushi: Sushi repeat (SCR repeat) (1742 - 1792)

CUB

CUB: CUB domain (1796 - 1901)

Sushi

Sushi: Sushi repeat (SCR repeat) (1909 - 1964)

CUB

CUB: CUB domain (1968 - 2073)

Sushi

Sushi: Sushi repeat (SCR repeat) (2123 - 2178)

CUB

CUB: CUB domain (2182 - 2277)

Sushi

Sushi: Sushi repeat (SCR repeat) (2294 - 2351)

CUB

CUB: CUB domain (2358 - 2463)

Sushi

Sushi: Sushi repeat (SCR repeat) (2468 - 2526)

Sushi

Sushi: Sushi repeat (SCR repeat) (2531 - 2588)

Sushi

Sushi: Sushi repeat (SCR repeat) (2594 - 2653)

Sushi

Sushi: Sushi repeat (SCR repeat) (2658 - 2711)

Sushi

Sushi: Sushi repeat (SCR repeat) (2716 - 2769)

Sushi

Sushi: Sushi repeat (SCR repeat) (2774 - 2827)

Sushi

Sushi: Sushi repeat (SCR repeat) (2835 - 2888)

Sushi

Sushi: Sushi repeat (SCR repeat) (2893 - 2947)

Sushi

Sushi: Sushi repeat (SCR repeat) (2952 - 3007)

Sushi

Sushi: Sushi repeat (SCR repeat) (3012 - 3065)

Sushi

Sushi: Sushi repeat (SCR repeat) (3070 - 3123)

Sushi

Sushi: Sushi repeat (SCR repeat) (3131 - 3185)

Sushi

Sushi: Sushi repeat (SCR repeat) (3190 - 3245)

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  • 3487 a.a.
蛋白主名 其他名称

CUB and sushi domain-containing protein 2

CUB and Sushi (SCR repeat) domain

关联疾病

疾病名称 别名
Neuronitis
Epilepsy, Familial Adult Myoclonic, 1

FAME1

Benign Adult Familial Myoclonic Epilepsy 1

Bafme1

Fcmte1

Cortical Myoclonic Tremor With Epilepsy, Familial, 1

Familial Adult Myoclonic Epilepsy 1

Familial Cortical Myoclonic Tremor And Epilepsy 1

Epilepsy, Myoclonic, Familial Adult, Type 1

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Head And Neck Cancer

Head And Neck Neoplasm

Head And Neck Tumours

Head/Neck Neoplasm

Tumor Of Head And Neck

Head And Neck Neoplasms

Hnc

Cancer, Head/Neck

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
Rattus norvegicus CSMD2 RGD RGD:1565728
Mus musculus CSMD2 MGD MGI:2386401
Felis catus CSMD2 VGNC VGNC:61223
Macaca mulatta CSMD2 VGNC VGNC:71441
Bos taurus CSMD2 VGNC VGNC:27762