EXOC3L2 exocyst complex component 3 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EXOC3L2provided by HGNC
Official Full Name: exocyst complex component 3 like 2provided by HGNC
Primary source: HGNC:HGNC:30162
See related: Ensembl:ENSG00000283632 MIM:616927; AllianceGenome:HGNC:30162
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BMRS; XTP7
Summary: The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]
Expression: Broad expression in kidney (RPKM 8.1), spleen (RPKM 4.9) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45212370..45245407, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48039015..48072079, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45715628..45748665, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow.
Title: Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
EXOC3L2 rs597668 variant is associated with Alzheimer's disease susceptibility.
Title: EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population.
This meta-analysis assesses an association between rs597668 polymorphism in EXOC3L2 and Alzheimer's disease.
Title: Association between EXOC3L2 rs597668 polymorphism and Alzheimer's disease.
This study suggests that the rs597668 polymorphism near EXOC3L2 may not play a major role in the susceptibility to late-onset Alzheimer's disease in the Northern Han Chinese population.
Title: Lack of association between rs597668 polymorphism near EXOC3L2 and late-onset Alzheimer's disease in Han Chinese.
exoc3l2 silencing inhibits VEGF receptor 2 phosphorylation and VEGFA-directed migration of cultured endothelial cells.
Title: Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells.
Observational study, meta-analysis, and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Genome-wide analysis of genetic loci associated with Alzheimer disease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102539 (e-PCR)
- UniSTS:96873

SHGC-67307 (e-PCR)
- UniSTS:89991

NoName (e-PCR)
- UniSTS:485848

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in exocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of exocyst	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: exocyst complex component 3-like protein 2

Names: HBV X-transactivated gene 7 protein; HBV XAg-transactivated protein 7; protein 7 transactivated by hepatitis B virus X antigen (HBxAg)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_054912.2 RefSeqGene

Range

5001..38038

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001382422.1 → NP_001369351.1 exocyst complex component 3-like protein 2

Status: REVIEWED

Source sequence(s)

AC006126

Consensus CDS

CCDS92642.1

UniProtKB/TrEMBL

A0A1C7CYX0

Related

ENSP00000400713.2, ENST00000413988.3

Conserved Domains (1) summary

cl19885
Location:226 → 756

Sec6; Exocyst complex component Sec6