Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
163486
Gene name Gene Name - the full gene name approved by the HGNC.
DENN domain containing 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DENND1B
Synonyms (NCBI Gene) Gene synonyms aliases
C1ORF18, C1orf218, FAM31B
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT497954 hsa-miR-365a-3p PAR-CLIP 22291592
MIRT497953 hsa-miR-365b-3p PAR-CLIP 22291592
MIRT497952 hsa-miR-802 PAR-CLIP 22291592
MIRT497951 hsa-miR-532-5p PAR-CLIP 22291592
MIRT497950 hsa-miR-4312 PAR-CLIP 22291592
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 20937701
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
GO:0006897 Process Endocytosis IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613292 28404 ENSG00000213047
Protein
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
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
Tissue specificity TISSUE SPECIFICITY: Highly expressed in dendritic and natural killer cells and at lower levels in other myeloid lineage cells and in pituitary. Significantly up-regulated in effector memory T-cells as compared with naive T-cells. {ECO:0000269|PubMed:20032
Sequence
MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERV
SQNQVGQHFTFVLTDIESKQRFGFCRLT
SGGTICLCILSYLPWFEVYYKLLNTLADYLAK
ELENDLNETLRSLYNHPVPKANTPVNLSVNQEIFIACEQVLKDQPALVPHSYFIAPDVTG
LPTIPESRNLTEYFVAVDVNNMLQLYASMLHERRIVIISSKLSTLTACIHGSAALLYPMY
WQHIYIPVLPPHLLDYCCAPMPYLIGIHSSLIERVKNKSLEDVVMLNVDTN
TLESPFSDL
NNLPSDVVSALKNKLKKQSTATGDGVARAFLRAQAALFGSYRDALRYKPGEPITFCEESF
VKHRSSVMKQFLETAINLQLFKQFIDGRLAKLNAGRGFSDVFEEE
ITSGGFCGGNPRSYQ
QWVHTVKKGGALFNTAMTKATPAVRTAYKFAKNHAKLGLKEVKSKLKHKENEEDYGTCSS
SVQYTPVYKLHNEKGGNSEKRKLAQARLKRPLKSLDGALYDDEDDDDIERASKLSSEDGE
EASAYLYESDDSVETRVKTPYSGEMDLLGEILDTLSTHSSDQGKLAAAKSLDFFRSMDDI
DYKPTNKSNAPSENNLAFLCGGSGDQAEWNLGQDDSALHGKHLPPSPRKRVSSSGLTDSL
FILKEENSNKHLGADNVSDPTSGLDFQLTSPEVSQTDKGKTEKRETLSQISDDLLIPGLG
RHSSTFVPWEKEGKEAKETSEDIGLLHEVVSLCHMTSDFQQSLNISDKNTNGNQT
Sequence length 775
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 26192919, 23128233, 28067908
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 26974007
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 21907864 ClinVar
Crohn disease Crohn Disease, Regional enteritis 21102463, 26974007, 28067908, 26192919 ClinVar
Mental depression Major Depressive Disorder 30718901, 29662059, 27479909 ClinVar
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 20032318, 23517042
Dementia Vascular Associate 39909351
Diabetes Mellitus Type 2 Associate 24455749
Invasive Pulmonary Aspergillosis Associate 24712925
Narcolepsy Associate 37188663
Obesity Associate 24455749
Pancreatic Neoplasms Associate 25945796
Status Asthmaticus Associate 23517042