Gene Gene information from NCBI Gene database.
Entrez ID 9909
Gene name DENN domain containing 4B
Gene symbol DENND4B
Synonyms (NCBI Gene)
KIAA0476
Chromosome 1
Chromosome location 1q21.3
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1557853919 G>A Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
213
miRTarBase ID miRNA Experiments Reference
MIRT051981 hsa-let-7b-5p CLASH 23622248
MIRT050007 hsa-miR-28-5p CLASH 23622248
MIRT049787 hsa-miR-92a-3p CLASH 23622248
MIRT044839 hsa-miR-320a CLASH 23622248
MIRT043613 hsa-miR-151a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005654 Component Nucleoplasm IDA
GO:0005794 Component Golgi apparatus IDA 20937701
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619843 29044 ENSG00000198837
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75064
Protein name DENN domain-containing protein 4B
Protein function Guanine nucleotide exchange factor (GEF) which may activate RAB10. 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 213 278 uDENN domain Domain
PF02141 DENN 313 497 DENN (AEX-3) domain Family
PF03455 dDENN 603 652 dDENN domain Domain
Sequence
MAEERPPRLVDYFVVAGLAGNGAPIPEETWVPEPSGPLRPPRPAEPITDVAVIARALGEE
VPQGYTCIQASAGGHPLELSAGLLGGTQPVICYRRGRDKPPLVELGVLYEGKERPKPGFQ
VLDTTPYSHSANLAPPGPGHPRTYLTYRRAAEGAGLHALGITDLCLVLPSKGEGTPHTYC
RLPRNLNPGMWGPAVYLCYKVGLAKANTLVYEAELLGRYPEEDNEAFPLPESVPVFCLPM
GATIECWPAQTKYPVPVFSTFVLTGAAGDKVYGAALQF
YEAFPRARLSERQARALGLLSA
VERGRALGGRAVRSRRAIAVLSRWPAFPAFRAFLTFLYRYSVSGPHRLPLEAHISHFIHN
VPFPSPQRPRILVQMSPYDNLLLCQPVSSPLPLSGASFLQLLQSLGPELAITLLLAVLTE
HKLLVHSLRPDLLTSVCEALVSMIFPLHWQCPYIPLCPLVLADVLSAPVPFIVGIHSSYF
DLHDPPADVICVDLDTN
TLFQTEEKKLLSPRTLPRRPYKVLLATLTNLYQQLDQTYTGPE
EEASLEFLLTDYEAVCGRRARLEREVQGAFLRFMACLLKGYRVFLRPLTQAPSEGARDVD
NLFFLQGFLKSRERSSHKLYSQLLHTQMFSQFIEECSFGSARHAALEFFDSCVEKVHPEQ
EKPEPTPLVELEELSGSELTVFITPPEEPALPEGSESTPQYCYDGFPELRAELFESLQEQ
PGALPVPGPSRSAPSSPAPRRTKQEMKVAQRMAQKSAAVPELWARCLLGHCYGLWFLCLP
AYVRSAPSRVQALHTAYHVLRQMESGKVVLPDEVCYRVLMQLCSHYGQPVLSVRVMLEMR
QAGIVPNTITYGYYNKAVLESKWPSGTPGGRLRWAKLRNVVLGAAQFRQPLRERQQQQQQ
QQQQQQQQQQEQVSAHQEAGSSQAEPYLERPSPTRPLQRQTTWAGRSLRDPASPPGRLVK
SGSLGSARGAQPTVEAGVAHMIEALGVLEPRGSPVPWHDGSLSDLSLTGEEPLPGGSPGG
SGSALSAQSTEALEGLSGRGPKAGGRQDEAGTPRRGLGARLQQLLTPSRHSPASRIPPPE
LPPDLPPPARRSPMDSLLHPRERPGSTASESSASLGSEWDLSESSLSNLSLRRSSERLSD
TPGSFQSPSLEILLSSCSLCRACDSLVYDEEIMAGWAPDDSNLNTTCPFCACPFVPLLSV
QTLDSRPSVPSPKSAGASGSKDAPVPGGPGPVLSDRRLCLALDEPQLCNGHMGGASRRVE
SGAWAYLSPLVLRKELESLVENEGSEVLALPELPSAHPIIFWNLLWYFQRLRLPSILPGL
VLASCDGPSHSQAPSPWLTPDPASVQVRLLWDVLTPDPNSCPPLYVLWRVHSQIPQRVVW
PGPVPASLSLALLESVLRHVGLNEVHKAVGLLLETLGPPPTGLHLQRGIYREILFLTMAA
LGKDHVDIVAFDKKYKSAFNKLASSMGKEELRHRRAQMPTPKAIDCRKCFGAPPEC
Sequence length 1496
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Likely pathogenic rs1557853919 RCV000736142
★★★★☆
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 Evidence Score
CLEFT PALATE, ISOLATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENND4B-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Prostate cancer, familial Prostate cancer CTD_human_DG 29892016
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1 Prostate Cancer, Hereditary CTD_human_DG 29892016
★☆☆☆☆
Found in Text Mining only