Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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163486 |
Gene nameGene Name - the full gene name approved by the HGNC.
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DENN domain containing 1B |
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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DENND1B |
SynonymsGene synonyms aliases
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C1ORF18, C1orf218, FAM31B |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q31.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase |
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 |
Q6P3S1 |
Protein name |
DENN domain-containing protein 1B (Connecdenn 2) (Protein FAM31B) |
Protein function |
Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells (PubMed:20154091, PubMed:20937701, PubMed:24520163, PubMed:26774822). Acts by promoting the exchange of GDP to GTP, |
PDB |
3TW8
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03456 |
uDENN |
29 → 88 |
uDENN domain |
Domain |
PF02141 |
DENN |
92 → 291 |
DENN (AEX-3) domain |
Family |
PF03455 |
dDENN |
355 → 405 |
dDENN domain |
Domain |
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Sequence |
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Sequence length |
775 |
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 |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
21907864 |
Inflammatory bowel disease |
Inflammatory Bowel Diseases |
rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 |
26192919, 23128233, 28067908 |
Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
26974007 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Ankylosing spondylitis |
Ankylosing spondylitis |
|
26974007 |
Anxiety disorder |
Anxiety |
|
29942085 |
Biliary cirrhosis |
Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis |
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21399635, 22961000, 21399635, 26394269 |
Cholangitis |
Cholangitis, Sclerosing |
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26974007 |
Crohn disease |
Crohn Disease, Regional enteritis |
rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438 |
21102463, 26974007, 28067908, 26192919, 21102463 |
Crohn`s disease of large bowel |
Crohn`s disease of large bowel |
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21102463 |
Crohn`s disease of the ileum |
Crohn`s disease of the ileum |
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21102463 |
Ileocolitis |
IIeocolitis |
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21102463 |
Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
30718901, 29662059, 27479909 |
Biliary cholangitis |
Secondary Biliary Cholangitis |
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21399635 |
Ulcerative colitis |
Ulcerative Colitis |
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26192919, 26974007 |
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