RAPGEF6 (Rap guanine nucleotide exchange factor 6)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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51735 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Rap guanine nucleotide exchange factor 6 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RAPGEF6 |
SynonymsGene synonyms aliases
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KIA001LB, PDZ-GEF2, PDZGEF2, RA-GEF-2, RAGEF2 |
ChromosomeChromosome number
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5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q31.1 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q8TEU7 |
Protein name |
Rap guanine nucleotide exchange factor 6 (PDZ domain-containing guanine nucleotide exchange factor 2) (PDZ-GEF2) (RA-GEF-2) |
Protein function |
Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP. |
PDB |
2D93
,
3LNY
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00027 |
cNMP_binding |
300 → 382 |
Cyclic nucleotide-binding domain |
Domain |
PF00618 |
RasGEF_N |
415 → 502 |
RasGEF N-terminal motif |
Domain |
PF00595 |
PDZ |
530 → 609 |
PDZ domain |
Domain |
PF00788 |
RA |
749 → 835 |
Ras association (RalGDS/AF-6) domain |
Domain |
PF00617 |
RasGEF |
863 → 1041 |
RasGEF domain |
Family |
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Sequence |
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Sequence length |
1601 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 |
25778476 |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
25918132 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
17030554, 18718982 |
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