1. Gene
  2. EXOC6B - exocyst complex component 6B Gene

EXOC6B - exocyst complex component 6B Gene

中文名称:exocyst 复杂组件 6B

种属: Homo sapiens

同用名: SEC15B; SEC15L2; SEMDJL3

基因 ID: 23233 | 基因类型: protein coding

关于 EXOC6B

Cytogenetic location: 2p13.2 Genomic coordinates (GRCh38): 2:72,175,984-72,826,033 (from NCBI)

This gene has 9 transcripts (splice variants), 219 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 12.8), brain (RPKM 8.7) and 23 other tissues.

功能概要

该基因编码的蛋白质是进化上保守的胞吐囊的一部分,胞吐囊是一种胞吐作用所必需的多聚体蛋白质复合物,而胞吐作用又对细胞生长、极性和迁移至关重要。该基因的破坏可能与表现出多种症状的表型有关,包括智力障碍和发育迟缓 (DD) 。[RefSeq 提供,2016 年 6 月]

This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]

EXOC6B 基因产物(6)

mRNA Protein Name
NM_001321729.2 NP_001308658.1 exocyst complex component 6B isoform 1
NM_001321730.2 NP_001308659.1 exocyst complex component 6B isoform 3
NM_001321731.2 NP_001308660.1 exocyst complex component 6B isoform 4
NM_001321733.2 NP_001308662.1 exocyst complex component 6B isoform 5
NM_001321734.2 NP_001308663.1 exocyst complex component 6B isoform 6
NM_015189.3 NP_056004.1 exocyst complex component 6B isoform 2

EXOC6B 蛋白结构

Sec15

Sec15: Exocyst complex subunit Sec15-like (465 - 772)

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

exocyst complex component 6B

SEC15 homolog B

关联疾病

疾病名称 别名
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3

SEMDJL3

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 3

Spondyloepimetaphyseal Dysplasia With Joint Laxity, 3

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

Semdjl

Spondyloepimetaphyseal Dysplasia Joint Laxity

Semd-Jl

Semdjl1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Spondyloepimetaphyseal Dysplasia, X-Linked

X-Linked Spondyloepimetaphyseal Dysplasia

SEMDX

Semd, X-Linked

Semd X-Linked

Spondyloepimetaphyseal Dysplasia X-Linked

Spondylo-Epimetaphyseal Dysplasia

Laurin-Sandrow Syndrome

Sandrow Syndrome

Tetramelic Mirror-Image Polydactyly

Mirror-Image Polydactyly

Mirror Hands And Feet With Nasal Defects

Tmip

LSS

Mip

Mirror Hands And Feets-Nasal Defects Syndrome

Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius

Miccor Hands And Feet With Nasal Defects

Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius

Fibula Ulna Duplication Tibia Radius Absence

Laurin Sandrow Syndrome

Duplication Of Fibula And Ulna With Absence Of Tibia And Radius

Segmental Laurin-Sandrow Syndrome

Laurin-Sandrow Syndrome, Segmental

Scoliosis
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 EXOC6B VGNC VGNC:62003
Rattus norvegicus EXOC6B RGD RGD:1560638
Macaca mulatta EXOC6B VGNC VGNC:106160
Bos taurus EXOC6B VGNC VGNC:28651
Canis familiaris EXOC6B VGNC VGNC:40517
Mus musculus EXOC6B MGD MGI:1923164