Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55770
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Exocyst complex component 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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EXOC2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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NEDFACH, SEC5, SEC5L1, Sec5p |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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NEDFACH |
Chromosome
Chromosome number
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6 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p25.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Glaucoma |
Glaucoma, Glaucoma, Open-Angle |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 View all (29 more) |
30054594, 29891935 |
Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
23143594, 25574825 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Cerebellar Hypoplasia |
neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |
|
|
GenCC |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
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GenCC |
Alopecia Areata |
Alopecia Areata |
|
|
GWAS |
Rheumatoid arthritis |
Rheumatoid arthritis |
|
|
GWAS |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
Carcinoma |
Carcinoma |
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|
GWAS |
Lymphocytic Leukemia |
Lymphocytic Leukemia |
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|
GWAS |
Central Nervous System Lymphoma |
Central Nervous System Lymphoma |
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|
GWAS |
Strabismus |
Strabismus |
|
|
GWAS |
Dental caries |
Dental caries |
|
|
GWAS |
Melanoma |
Melanoma |
SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. |
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GWAS, CBGDA |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Dermatitis |
Dermatitis |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
Renal Carcinoma |
Renal Carcinoma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Alzheimer Disease |
Associate
|
26949549, 36776048 |
Body Dysmorphic Disorders |
Associate
|
32639540 |
Brain Diseases |
Associate
|
32639540 |
Carcinogenesis |
Associate
|
20145037 |
Carcinoma Basal Cell |
Associate
|
21700618 |
Color Vision Defects |
Associate
|
18483556 |
Colorectal Neoplasms |
Associate
|
31502714 |
Developmental Disabilities |
Associate
|
32639540 |
Epilepsy |
Associate
|
32639540 |
Gastrointestinal Stromal Tumors |
Associate
|
32736695 |
Lymphoma |
Associate
|
30305637 |
Motor Skills Disorders |
Associate
|
32639540 |
Neurologic Manifestations |
Associate
|
32639540 |
Skin Neoplasms |
Associate
|
23548203 |
Waldenstrom Macroglobulinemia |
Associate
|
30305637 |
|