1. Gene
  2. CSMD3 - CUB and Sushi multiple domains 3 Gene

CSMD3 - CUB and Sushi multiple domains 3 Gene

中文名称:CUB 和 Sushi 多个域 3

种属: Homo sapiens

基因 ID: 114788 | 基因类型: protein coding

关于 CSMD3

Cytogenetic location: 8q23.3 Genomic coordinates (GRCh38): 8:112,222,928-113,436,939 (from NCBI)

This gene has 10 transcripts (splice variants), 230 orthologues, 39 paralogues and is associated with 151 phenotypes. Biased expression in brain (RPKM 1.9), testis (RPKM 0.7) and 1 other tissue.

功能概要

预计参与树突发育的调节。预测位于质膜中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in regulation of dendrite development. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

CSMD3 基因产物(4)

mRNA Protein Name
NM_001363185.1 NP_001350114.1 CUB and sushi domain-containing protein 3 isoform 4
NM_052900.3 NP_443132.3 CUB and sushi domain-containing protein 3 isoform 3
NM_198123.2 NP_937756.1 CUB and sushi domain-containing protein 3 isoform 1
NM_198124.2 NP_937757.1 CUB and sushi domain-containing protein 3 isoform 2

CSMD3 蛋白结构

CUB

CUB: CUB domain (65 - 170)

Sushi

Sushi: Sushi repeat (SCR repeat) (178 - 235)

CUB

CUB: CUB domain (241 - 342)

Sushi

Sushi: Sushi repeat (SCR repeat) (486 - 543)

CUB

CUB: CUB domain (548 - 656)

Sushi

Sushi: Sushi repeat (SCR repeat) (664 - 717)

CUB

CUB: CUB domain (721 - 826)

Sushi

Sushi: Sushi repeat (SCR repeat) (834 - 891)

CUB

CUB: CUB domain (895 - 1000)

Sushi

Sushi: Sushi repeat (SCR repeat) (1010 - 1063)

CUB

CUB: CUB domain (1067 - 1174)

Sushi

Sushi: Sushi repeat (SCR repeat) (1182 - 1237)

CUB

CUB: CUB domain (1241 - 1346)

Sushi

Sushi: Sushi repeat (SCR repeat) (1354 - 1410)

CUB

CUB: CUB domain (1414 - 1520)

Sushi

Sushi: Sushi repeat (SCR repeat) (1528 - 1584)

CUB

CUB: CUB domain (1588 - 1693)

Sushi

Sushi: Sushi repeat (SCR repeat) (1701 - 1758)

CUB

CUB: CUB domain (1762 - 1867)

Sushi

Sushi: Sushi repeat (SCR repeat) (1884 - 1935)

CUB

CUB: CUB domain (1939 - 2044)

Sushi

Sushi: Sushi repeat (SCR repeat) (2052 - 2107)

CUB

CUB: CUB domain (2111 - 2216)

Sushi

Sushi: Sushi repeat (SCR repeat) (2224 - 2279)

CUB

CUB: CUB domain (2283 - 2379)

Sushi

Sushi: Sushi repeat (SCR repeat) (2395 - 2452)

CUB

CUB: CUB domain (2464 - 2564)

Sushi

Sushi: Sushi repeat (SCR repeat) (2569 - 2627)

Sushi

Sushi: Sushi repeat (SCR repeat) (2632 - 2689)

Sushi

Sushi: Sushi repeat (SCR repeat) (2694 - 2748)

Sushi

Sushi: Sushi repeat (SCR repeat) (2759 - 2812)

Sushi

Sushi: Sushi repeat (SCR repeat) (2817 - 2870)

Sushi

Sushi: Sushi repeat (SCR repeat) (2875 - 2928)

Sushi

Sushi: Sushi repeat (SCR repeat) (2933 - 2990)

Sushi

Sushi: Sushi repeat (SCR repeat) (2995 - 3048)

Sushi

Sushi: Sushi repeat (SCR repeat) (3056 - 3109)

Sushi

Sushi: Sushi repeat (SCR repeat) (3114 - 3168)

Sushi

Sushi: Sushi repeat (SCR repeat) (3173 - 3228)

Sushi

Sushi: Sushi repeat (SCR repeat) (3233 - 3286)

Sushi

Sushi: Sushi repeat (SCR repeat) (3291 - 3344)

Sushi

Sushi: Sushi repeat (SCR repeat) (3352 - 3406)

Sushi

Sushi: Sushi repeat (SCR repeat) (3411 - 3466)

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  • 3707 a.a.
蛋白主名 其他名称

CUB and sushi domain-containing protein 3

CUB and sushi multiple domains protein 3

关联疾病

疾病名称 别名
Uterine Corpus Endometrial Carcinoma
Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome

Lgs

Trichorhinophalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome Type 2

TRPS2

Monosomy 8q24.1

Chromosome 8q24.1 Deletion Syndrome

Deletion 8q24.1

Giedion-Langer Syndrome

Trichorhinophalangeal Dysplasia Type Ii

Langer Giedion Syndrome

Trps 2

Tricho-Rhino-Phalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome With Exostosis

Trps Ii

Tricho-Rhino-Phalangeal Syndrome 2

8q24.1 Microdeletion Syndrome

8q24.1 Deletion Syndrome

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 CSMD3 VGNC VGNC:61224
Macaca mulatta CSMD3 VGNC VGNC:71442
Mus musculus CSMD3 MGD MGI:2386403
Canis familiaris CSMD3 VGNC VGNC:39663
Rattus norvegicus CSMD3 RGD RGD:1594530