CSMD3 - CUB and Sushi multiple domains 3 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 114788

About 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.

Summary

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 Products (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 Protein Structure

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.
Protein Preferred Names Protein Names

CUB and sushi domain-containing protein 3

  • CUB and sushi multiple domains protein 3

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others CSMD3 NCBI