EXOC6B - exocyst complex component 6B Gene

Also Known as SEC15B; SEC15L2; SEMDJL3

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 23233

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	27173435	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EXOC6B Protein Structure

Sec15

0
200
400
600
811 a.a.

Protein Preferred Names	Protein Names
exocyst complex component 6B	SEC15 homolog B

EXOC6B Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	EXOC6B	Q9Y2D4	SHTN1	Homo sapiens	A0MZ66-4	Y2H Prey Pooling	32296183
Intra	EXOC6B	Q9Y2D4	SHTN1	Homo sapiens	A0MZ66-4	Y2H Array	32296183
Intra	EXOC6B	Q9Y2D4	EXOC5	Homo sapiens	O00471	Anti Tag CoIP	33961781
Intra	EXOC6B	Q9Y2D4	EXOC5	Homo sapiens	O00471	TAP	27173435

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04592	EXOC6B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	EXOC6B	NCBI