RAB11B (RAB11B, member RAS oncogene family)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9230
Gene name Gene Name - the full gene name approved by the HGNC.
RAB11B, member RAS oncogene family
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAB11B
Synonyms (NCBI Gene) Gene synonyms aliases
H-YPT3, NDAGSCW
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NDAGSCW
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs1555690779 G>A Likely-pathogenic Coding sequence variant, missense variant
rs1555690804 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(539)
miRTarBase ID miRNA Experiments Reference
MIRT718443 hsa-miR-3940-3p HITS-CLIP 19536157
MIRT718442 hsa-miR-4532 HITS-CLIP 19536157
MIRT718441 hsa-miR-4485-5p HITS-CLIP 19536157
MIRT718440 hsa-miR-1913 HITS-CLIP 19536157
MIRT718439 hsa-miR-324-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0001881 Process Receptor recycling ISS
GO:0003924 Function GTPase activity IDA 16545962
GO:0005515 Function Protein binding IPI 20717956, 21976701, 22613832, 23572552, 25556234, 26005850, 28514442, 30661770, 32296183, 32814053
GO:0005525 Function GTP binding IDA 16545962
GO:0005768 Component Endosome IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604198 9761 ENSG00000185236
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15907
Protein name Ras-related protein Rab-11B (EC 3.6.5.2) (GTP-binding protein YPT3)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r
PDB 2F9L , 2F9M , 4OJK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 13 → 174 Ras family Domain
Sequence
Sequence length 218
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Endocytosis
AMPK signaling pathway
Vasopressin-regulated water reabsorption
Influenza A 		  TBC/RABGAPs
RAB geranylgeranylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 29106825
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER rs1555690779, rs1555690804 29106825
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 24373285
Arsenic Poisoning Associate 36436256
Carcinoma Hepatocellular Associate 35596159
Carcinoma Hepatocellular Inhibit 36359911
COVID 19 Associate 35657140, 35840993
Endometrial Neoplasms Associate 33534780, 36525280
Epilepsy Associate 29106825
Intellectual Disability Associate 29106825
Long Qt Syndrome 2 Associate 23864605
Microcephaly Associate 29106825