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DENND6B (DENN domain containing 6B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
414918
Gene nameGene Name - the full gene name approved by the HGNC.
DENN domain containing 6B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DENND6B
SynonymsGene synonyms aliases
AFI1B, FAM116B
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018860 hsa-miR-335-5p Microarray 18185580
MIRT631217 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT631216 hsa-miR-6850-3p HITS-CLIP 23824327
MIRT631215 hsa-miR-6499-5p HITS-CLIP 23824327
MIRT631214 hsa-miR-214-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 22595670
GO:0005829 Component Cytosol TAS
GO:0050790 Process Regulation of catalytic activity IEA
GO:0055037 Component Recycling endosome IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8NEG7
Protein name Protein DENND6B (DENN domain-containing protein 6B)
Protein function Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08616 SPA
248 358
Family
Sequence
MDALLGTGPRRARGCLGAAGPTSSGRAARTPAAPWARFSAWLECVCVVTFDLELGQALEL
VYPNDFRLTDKEKSSICYLSFPDSHSGCLGDTQFSFRMRQCGGQRSPWHADDRHYNSRAP
VALQREPAHYFGYVYFRQVKDSSVKRGYFQKSLVLVSRLPFVRLFQALLSLIAPEYFDKL
APCLEAVCSEIDQWPAPAPGQTLNLPVMGVVVQVRIPSRVDKSESSPPKQFDQENLLPAP
VVLASVHELDLFRCFRPVLTHMQTLWELMLLGEPLLVLAPSPDVSSEMVLALTSCLQPLR
FCCDFRPYFTIHDSEFKEFTTRTQAPPNVVLGVTNPFFIKTLQHWPHILRVGEPKMSG
DL
PKQVKLKKPSRLKTLDTKPGLYTAYTAHLHRDKALLKRLLKGVQKKRPSDVQSALLRRHL
LELTQSFIIPLEHYMASLMPLQKSITPWKTPPQIQPFSQDDFLRSLEHAGPQLTCILKGD
WLGLYRRFFKSPHFDGWYRQRHKEMALKLEALHLEAICEANIETWMKDKSEVEVVDLVLK
LREKLVRAQGHQLPVKEATLQRAQLYIETVIGSLPKDLQAVLCPP
Sequence length 585
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.
 
Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases
Causal
Disease name Disease term dbSNP ID References
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 31374203

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