EXOC3L4 Gene

Exocyst Complex Component 3 Like 4

Gene Information Card

Symbol EXOC3L4
Full Name Exocyst Complex Component 3 Like 4
Gene Type Protein coding
Chromosomal Location 14q32.12
NCBI Gene ID 285203 ncbi.nlm.nih.gov/gene/285203
Ensembl ID ENSG00000100804
UniProt ID Q8N8Q1
OMIM ID 615891
HGNC ID 26258
Aliases FLJ22624, SEC6L4

Description

EXOC3L4 encodes a protein that is a member of the exocyst complex, which is involved in targeting and docking of exocytic vesicles to the plasma membrane. The exocyst complex is essential for polarized exocytosis and cell growth.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association reported N/A No direct evidence from ClinVar, OMIM, or COSMIC as of current data.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.2 Low
Lung 6.1 Low
Kidney 5.3 Low
Liver 3.7 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.1 Moderate expression
HeLa 7.8 Low expression
K562 5.4 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No pathogenic mutations reported N/A N/A N/A
Mutation functional classification

Loss of Function (LOF)

No data available

Gain of Function (GOF)

No data available

Dominant Negative (DN)

No data available

Pathways

Exocyst pathway (Reactome: R-HSA-5620912)

Protein Summary

The EXOC3L4 protein is a component of the exocyst complex, which mediates tethering of secretory vesicles to the plasma membrane prior to fusion. It is involved in polarized exocytosis and cell polarity.

Related Products

Product name Cat.No. Species Gene ID
EXOC3L4 Knockout HEK293 Cell Line EDJ-KQ10795 Human 91828 Details Get a Quote
EXOC3L4 Knockout A-549 Cell Line EDJ-KQ38436 Human 91828 Details Get a Quote
EXOC3L4 Knockout HeLa Cell Line EDJ-KQ38437 Human 91828 Details Get a Quote
EXOC3L4 Knockout HCT 116 Cell Line EDJ-KQ74733 Human 91828 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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