EXOC6B - exocyst complex component 6B Gene

Homo sapiens

Also known as SEC15B; SEC15L2; SEMDJL3

Gene ID: 23233 | Gene type: protein coding

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	Reference	Source
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04592	EXOC6B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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