Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
160518
Gene name Gene Name - the full gene name approved by the HGNC.
DENN domain containing 5B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DENND5B
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p11.21
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT618495 hsa-miR-1306-5p HITS-CLIP 19536157
MIRT618494 hsa-miR-6890-3p HITS-CLIP 19536157
MIRT618493 hsa-miR-660-3p HITS-CLIP 19536157
MIRT618492 hsa-miR-1914-5p HITS-CLIP 19536157
MIRT618491 hsa-miR-6741-3p HITS-CLIP 19536157
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 TAS
GO:0016021 Component Integral component of membrane IEA
GO:0050790 Process Regulation of catalytic activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617279 28338 ENSG00000170456
Protein
UniProt ID Q6ZUT9
Protein name DENN domain-containing protein 5B (Rab6IP1-like protein)
Protein function Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03456 uDENN 57 119 uDENN domain Domain
PF02141 DENN 187 375 DENN (AEX-3) domain Family
PF03455 dDENN 541 592 dDENN domain Domain
PF02759 RUN 780 929 RUN domain Family
PF01477 PLAT 938 1043 PLAT/LH2 domain Domain
PF02759 RUN 1126 1267 RUN domain Family
Sequence
MSGSCAAPGPGSGSSPAACRFAHYFVLCGIDADSGLEPDELAGENFDQSPLRRTFKSKVL
AHYPQNIEWNPFDQDAVNMLCMPKGLSFRTQTDNKDPQFHSFIITREDGSRTYGFVLTF
Y
EEVTSKQICTAMQTLYQMHNAEHYSSVYASSSCSMDSLASSLDEGDTTSLLKLQRYNSYD
ISRDTLYVSKSICLITPLPFMQACKKFLIQLYKAVTSQQPPPLPLESYIHNILYEVPLPP
PGRSLKFYGVYEPVICQRPGPSELPLSDYPLREAFELLGLENLVQVFTCVLLEMQILLYS
QDYQRLMTVAEGITTLLFPFQWQHVYVPILPASLLHFLDAPVPYLMGLQSKEGTDRSKLE
LPQEANLCFVDIDNH
FIELPEEFPQFPNKVDFIQELSEVLVQFGIPPEGSLHCSESTSKL
KNMVLKDLVNDKKNGNVCTNNISMYELLKGNETIARLQALAKRTGVAVEKMDLSASLGEK
DKDLKLHCEEAELRDYQLNVQLREVFANRFTQMFADYEAFVIQTAQDMESWLTNREQMQN
FDKASFLSDQPEPYLPFLSRFIETQMFATFIDNKIMSQWEEKDPLLRVFDTRIDKIRLYN
VRAPTLRTSIYQKCSTLKEAAQSIEQRLMKMDHTAIHPHLLDMKIGQGKYEQGFFPKLQS
DVLATGPTSNNRWVSRSATAQRRKERLRQHSEHVGLDNDLREKYMQEARSLGKNLRQPKL
SDLSPAVIAQTNCKFVEGLLKECRMKTKRMLVEKMGHEAVELGHGEANITGLEENTLIAS
LCDLLERIWSHGLQVKQGKSALWSHLIQFQDREEKQEHLAESPVALGPERRKSDSGVMLP
TLRVSLIQDMRHIQNMSEIKTDVGRARAWIRLSLEKKLLSQHLKQLLSNQPLTKKLYKRY
AFLRCEEEREQFLYHLLSLNAVDYFCFTS
VFTTIMIPYRSVIIPIKKLSNAIITSNPWIC
VSGELGDTGVMQIPKNLLEMTFECQNLGKLTTVQIGHDNSGLLAKWLVDCVMVRNEITGH
TYRFPCGRWLGKGIDDGSLERIL
IGELMTSASDEDLVKQCRTPPQQKSPTTARRLSITSL
TGKNNKPNAGQIQEGIGEAVNNIVKHFHKPEKERGSLTVLLCGENGLVAALEQVFHHGFK
SARIFHKNVFIWDFIEKVVAYFETTDQILDNEDDVLIQKSSCKTFCHYVNAINTAPRNIG
KDGKFQILVCLGTRDRLLPQWIPLLAECPAITRMYEESALLRDRMTVNSLIRILQTIQDF
TIVLEGS
LIKGVDV
Sequence length 1274
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
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 30529582
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
30529582
Colorectal neoplasms Colorectal Neoplasms, Malignant neoplasm of large intestine rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
30529582
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
31374203
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Hypoplastic Left Heart Syndrome hypoplastic left heart syndrome GenCC
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Associate 31796117, 35751785
Developmental Disabilities Associate 37563198
Kallmann Syndrome Associate 37563198
Neoplasms Inhibit 32149111
Neoplasms Associate 32597194
Peripheral Arterial Disease Associate 39649955
Wilms Tumor Associate 32149111, 32597194