Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	90332
Gene name	Exocyst complex component 3 like 2
Gene symbol	EXOC3L2
Synonyms (NCBI Gene)	BMRSXTP7
Chromosome	19
Chromosome location	19q13.32
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 ge

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SNP ID	Visualize variation	Clinical significance	Consequence
rs886039793	->G	Likely-pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments
MIRT972589	hsa-miR-103b	CLIP-seq
MIRT972590	hsa-miR-122	CLIP-seq
MIRT972591	hsa-miR-1226	CLIP-seq
MIRT972592	hsa-miR-1343	CLIP-seq
MIRT972593	hsa-miR-3199	CLIP-seq
MIRT972594	hsa-miR-329	CLIP-seq
MIRT972595	hsa-miR-3545-3p	CLIP-seq
MIRT972596	hsa-miR-362-3p	CLIP-seq
MIRT972597	hsa-miR-3663-5p	CLIP-seq
MIRT972598	hsa-miR-378g	CLIP-seq
MIRT972599	hsa-miR-4269	CLIP-seq
MIRT972600	hsa-miR-4423-5p	CLIP-seq
MIRT972601	hsa-miR-4437	CLIP-seq
MIRT972602	hsa-miR-4438	CLIP-seq
MIRT972603	hsa-miR-4635	CLIP-seq
MIRT972604	hsa-miR-4674	CLIP-seq
MIRT972605	hsa-miR-4680-5p	CLIP-seq
MIRT972606	hsa-miR-4733-3p	CLIP-seq
MIRT972607	hsa-miR-4781-3p	CLIP-seq
MIRT972608	hsa-miR-5095	CLIP-seq
MIRT972589	hsa-miR-103b	CLIP-seq
MIRT1988139	hsa-miR-1207-5p	CLIP-seq
MIRT972590	hsa-miR-122	CLIP-seq
MIRT972591	hsa-miR-1226	CLIP-seq
MIRT1988140	hsa-miR-147	CLIP-seq
MIRT1988141	hsa-miR-1915	CLIP-seq
MIRT1988142	hsa-miR-3135b	CLIP-seq
MIRT1988143	hsa-miR-3650	CLIP-seq
MIRT1988144	hsa-miR-3652	CLIP-seq
MIRT1988145	hsa-miR-3911	CLIP-seq
MIRT1988146	hsa-miR-4281	CLIP-seq
MIRT1988147	hsa-miR-4430	CLIP-seq
MIRT1988148	hsa-miR-4455	CLIP-seq
MIRT1988149	hsa-miR-4514	CLIP-seq
MIRT1988150	hsa-miR-4645-5p	CLIP-seq
MIRT1988151	hsa-miR-4673	CLIP-seq
MIRT1988152	hsa-miR-4692	CLIP-seq
MIRT1988153	hsa-miR-4726-3p	CLIP-seq
MIRT972606	hsa-miR-4733-3p	CLIP-seq
MIRT1988154	hsa-miR-4763-3p	CLIP-seq
MIRT1988155	hsa-miR-644	CLIP-seq
MIRT1988156	hsa-miR-940	CLIP-seq
MIRT972589	hsa-miR-103b	CLIP-seq
MIRT2222632	hsa-miR-1182	CLIP-seq
MIRT972590	hsa-miR-122	CLIP-seq
MIRT972591	hsa-miR-1226	CLIP-seq
MIRT2222633	hsa-miR-193a-5p	CLIP-seq
MIRT1988142	hsa-miR-3135b	CLIP-seq
MIRT972593	hsa-miR-3199	CLIP-seq
MIRT972594	hsa-miR-329	CLIP-seq
MIRT972595	hsa-miR-3545-3p	CLIP-seq
MIRT972596	hsa-miR-362-3p	CLIP-seq
MIRT1988144	hsa-miR-3652	CLIP-seq
MIRT972597	hsa-miR-3663-5p	CLIP-seq
MIRT972599	hsa-miR-4269	CLIP-seq
MIRT2222634	hsa-miR-431	CLIP-seq
MIRT972600	hsa-miR-4423-5p	CLIP-seq
MIRT1988147	hsa-miR-4430	CLIP-seq
MIRT972602	hsa-miR-4438	CLIP-seq
MIRT972603	hsa-miR-4635	CLIP-seq
MIRT972605	hsa-miR-4680-5p	CLIP-seq
MIRT972606	hsa-miR-4733-3p	CLIP-seq
MIRT2222635	hsa-miR-4736	CLIP-seq
MIRT972607	hsa-miR-4781-3p	CLIP-seq
MIRT2222636	hsa-miR-486-3p	CLIP-seq
MIRT972608	hsa-miR-5095	CLIP-seq
MIRT2222637	hsa-miR-653	CLIP-seq
MIRT2526271	hsa-miR-4735-5p	CLIP-seq
MIRT2526272	hsa-miR-4775	CLIP-seq
MIRT2526273	hsa-miR-590-3p	CLIP-seq
MIRT2526271	hsa-miR-4735-5p	CLIP-seq
MIRT2526272	hsa-miR-4775	CLIP-seq
MIRT2526273	hsa-miR-590-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000145	Component	Exocyst	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0006887	Process	Exocytosis	IEA

MIM	HGNC	e!Ensembl
616927	30162	ENSG00000283632

Q2M3D2

Protein name

Exocyst complex component 3-like protein 2 (HBV X-transactivated gene 7 protein) (HBV XAg-transactivated protein 7)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06046	Sec6	1 → 363	Exocyst complex component Sec6	Family

Sequence

MAALENGELGPLLSPGTLRGLEDECVTDVKAQTRAALLRVLQEDEEHWGSLEDQPSSLAQ
DVCELLEEHTERAPRISQEFGERMAHCCLGGLAEFLQSFQQRVERFHENPAVREMLPDTY
ISKTIALVNCGPPLRALAERLARVGPPESEPAREASASALDHVTRLCHRVVANLLFQELQ
PHFNKLMRRKWLSSPEALDGIVGTLGAQALALRRMQDEPYQALVAELHRRALVEYVRPLL
RGRLRCSSARTRSRVAGRLREDAAQLQRLFRRLESQASWLDAVVPHLAEVMQLEDTPSIQ
VEVGVLVRDYPDIRQKHVAALLDIRGLRNTAARQEILAVARDLELSEEGALSPPRDRAFF
ADIPVPRPSFCLSLPLFLGRLPLSRLARPSLACLPRPRPPSLARPRAQR

Sequence length

409

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Brain malformation renal syndrome	Likely pathogenic; Pathogenic	rs886039793	RCV004719022	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EXOC3L2-related brain malformations and/or renal disease	Likely pathogenic	rs2513866462	RCV004555170	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs886039793	RCV000256481	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-like syndrome	Pathogenic	rs2122975686	RCV001844343	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOC3L2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21220176, 21379329, 28423615	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	21321396, 22381399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	21379329, 24755620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29777097, 30617256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhydramnios	Anhydramnios	GENOMICS_ENGLAND_DG	27894351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhydramnios	Anhydramnios	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32727492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	27894351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dandy-Walker Syndrome	Dandy-Walker Syndrome	GENOMICS_ENGLAND_DG	27894351, 30327448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24603685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24603685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	GENOMICS_ENGLAND_DG	27894351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32727492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16087118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33618707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myocardial Infarction	Myocardial infarction	Pubtator	32727492	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	27894351, 30327448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	GENOMICS_ENGLAND_DG	27894351, 30327448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	GENOMICS_ENGLAND_DG	27894351, 30327448		★★★★★ ★☆☆☆☆ Found in Text Mining only

EXOC3L2 (exocyst complex component 3 like 2)