Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10411
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Rap guanine nucleotide exchange factor 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
RAPGEF3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CAMP-GEFI, EPAC, EPAC1, HSU79275, bcm910 |
Chromosome
Chromosome number
|
12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q13.11 |
UniProt ID |
O95398
|
Protein name |
Rap guanine nucleotide exchange factor 3 (Exchange factor directly activated by cAMP 1) (Exchange protein directly activated by cAMP 1) (EPAC 1) (Rap1 guanine-nucleotide-exchange factor directly activated by cAMP) (cAMP-regulated guanine nucleotide exchan |
Protein function |
Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma co |
PDB |
6H7E
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00610
|
DEP |
114 → 184 |
Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) |
Domain |
PF00027
|
cNMP_binding |
265 → 348 |
Cyclic nucleotide-binding domain |
Domain |
PF00618
|
RasGEF_N |
387 → 493 |
RasGEF N-terminal motif |
Domain |
PF00617
|
RasGEF |
665 → 843 |
RasGEF domain |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed with highest levels in adult kidney, heart, thyroid and brain, and fetal kidney. {ECO:0000269|PubMed:9856955}. |
Sequence |
|
Sequence length |
923 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
29273807 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
22363678 |
ClinVar |
Hypothyroidism |
Hypothyroidism |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acidosis |
Associate
|
22110680 |
Adenocarcinoma of Lung |
Associate
|
32998690 |
Airway Remodeling |
Associate
|
21426315 |
Anxiety |
Associate
|
19475578 |
Asthma |
Associate
|
21426315, 31932625 |
Breast Neoplasms |
Stimulate
|
28755423 |
Breast Neoplasms |
Associate
|
39270542 |
C9 Deficiency |
Inhibit
|
33362237 |
Carcinogenesis |
Associate
|
24316969 |
Carcinoma Hepatocellular |
Associate
|
31514484 |
Cardiovascular Diseases |
Associate
|
31316160, 31726720 |
Congenital heart block |
Associate
|
28626076 |
Depressive Disorder |
Associate
|
19475578 |
Diabetes Mellitus |
Associate
|
31726720 |
Esophageal Neoplasms |
Associate
|
28771997 |
Frontotemporal Dementia |
Associate
|
33362237 |
Hearing Loss |
Associate
|
36656851 |
Inflammation |
Associate
|
22363678, 23646189 |
Inflammation |
Inhibit
|
30395484 |
Leukemia Biphenotypic Acute |
Associate
|
34257610 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
14615375 |
Lung Neoplasms |
Associate
|
23523631, 27534532, 28232663, 29528086 |
Lymphatic Metastasis |
Associate
|
29528086 |
Melanoma |
Associate
|
24725364 |
Metabolic Diseases |
Associate
|
38195707 |
Neoplasm Metastasis |
Inhibit
|
29528086 |
Neoplasms |
Associate
|
29528086, 29982410, 30809467, 34257610, 39270542 |
Obesity |
Inhibit
|
38195707 |
Pemphigus |
Associate
|
31681304 |
Prostatic Neoplasms |
Associate
|
19725049, 23646189 |
Pulmonary Disease Chronic Obstructive |
Inhibit
|
22363678 |
Pulmonary Disease Chronic Obstructive |
Associate
|
30395484, 30988604 |
Rectal Neoplasms |
Associate
|
30809467 |
Stomach Neoplasms |
Associate
|
28260059 |
Triple Negative Breast Neoplasms |
Associate
|
29982410 |
Vascular Remodeling |
Associate
|
31316160 |
|