Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 163259
Gene name DENN domain containing 2C
Gene symbol DENND2C
Synonyms (NCBI Gene)
dJ1156J9.1
Chromosome 1
Chromosome location 1p13.2
miRNA miRNA information provided by mirtarbase database.
153 Show/Hide all (153)
miRTarBase ID miRNA Experiments Reference
MIRT023271 hsa-miR-122-5p Microarray 17612493
MIRT613155 hsa-miR-8485 HITS-CLIP 23824327
MIRT613154 hsa-miR-6768-5p HITS-CLIP 23824327
MIRT613155 hsa-miR-8485 HITS-CLIP 23824327
MIRT613154 hsa-miR-6768-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 20937701
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q68D51
Protein name DENN domain-containing protein 2C
Protein function Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. 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
PF02141 DENN 586 → 770 DENN (AEX-3) domain Family
PF03455 dDENN 847 → 895 dDENN domain Domain
PF03456 uDENN 510 → 578 uDENN domain Domain
Sequence
MDVGFSRTTVQTLSRSHCKNIKQKISQWEGRANGISNPEKWCPKDFGVRYNCHQEIRLKK
NPIAERKSKNLDVTSRENVGLDINENTKSHDQSENENKKHEYDDTHFFKNESESNWVCSR
VKEIESCKEDVLDPETSLPPGNFYTSQILWKKIEALPPDKLLNLALEHCDSSEKELNFRV
LDSSYGITKSLENIYSEPEGQECGPSINPLPKPRRTFRYLSESGVTPYKERNCDKKYCEN
NSCAQSSLASSQEPEPKKYGGKIRGRSKRKSFEFEDIQHFRNRNSQTIREELGRNSGSAL
YYTQSEDNIYEDIIYPTKENPYEDIPVQPLPMWRSPSAWKLPPAKSAFKAPKLPPKPQFL
HRKTMEVKNSQAYLRSKLTKDTTLPVTLTEWKLFRAGEVANTKRKNLPRLVLKIDDIFES
KRGKKKVKLHSYTGKELPPTKGETSGNESDAEYLPKNRHKRLAQLQPSSKRNPHYQTLER
DLIELQEQQLFELFVVVSLQKKPSGISYIPQVIQQFPGKDDHGYKQSKDMEERLKVIPKF
CFPDSKDWMPTSELKSETFSFVLTGEDGSRWFGYCKKL
LPVGKGKRLPEVYCMVSRLGCF
NLFSKILDEVEKRREMSPALVYPFMRSVMEAPFPAPGRTITVKSYLPGAGDESIELCRPL
DSRLEHVDFKCLFKCLSVCHLIRVCASLLLERRVIFVANSLSTLSKCGHAVVATLYPFTW
QHTYIPVLPASMIDIVCSPTPFLIGILSCSLPQLQDLPIEEVLIVDLCAD
KFLQEVSDED
EILPPKLQAALMQILEERNEILTQEQNFSQDVTLNSLVSEAFVRFFVELVGHYSLNMTVT
ERGERVFQREPFRKSHTSRSVRHFLDLFMETQMFAGFIQDRELRKSGVKGLFEIRAIQYL
ETIPESEPSGMNRILRSLGSKMKFLQKK
Sequence length 928
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
TYPE 2 DIABETES MELLITUS — GWAS catalog 30297969
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations