Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83452
Gene name Gene Name - the full gene name approved by the HGNC.
RAB33B, member RAS oncogene family
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAB33B
Synonyms (NCBI Gene) Gene synonyms aliases
SMC2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SMC2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs886044716 T>A Pathogenic Coding sequence variant, missense variant
rs1085307129 T>C Pathogenic Coding sequence variant, missense variant
rs1085307131 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048429 hsa-miR-100-5p CLASH 23622248
MIRT700383 hsa-miR-490-3p HITS-CLIP 23313552
MIRT700382 hsa-miR-7851-3p HITS-CLIP 23313552
MIRT700381 hsa-miR-3614-5p HITS-CLIP 23313552
MIRT700380 hsa-miR-6500-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001558 Process Regulation of cell growth IMP 20163571
GO:0003924 Function GTPase activity IMP 21808068
GO:0005515 Function Protein binding IPI 21808068, 23091056, 32296183
GO:0005525 Function GTP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605950 16075 ENSG00000172007
Protein
UniProt ID Q9H082
Protein name Ras-related protein Rab-33B (EC 3.6.5.2)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:20163571, PubMed:21808068). Rabs cycle between an inactive GDP-bound form and an acti
PDB 6Y09 , 6ZAY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 35 201 Ras family Domain
Sequence
Sequence length 229
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Autophagy - animal   Intra-Golgi traffic
TBC/RABGAPs
RAB geranylgeranylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Smith-mccort dysplasia SMITH-MCCORT DYSPLASIA, SMITH-MCCORT DYSPLASIA 2, Smith-McCort dysplasia rs120074164, rs120074165, rs587776958, rs886044716, rs775414124, rs1085307128, rs1085307130, rs1085307131, rs1561002040 22652534, 23042644, 28127940
Unknown
Disease term Disease name Evidence References Source
Smith-McCort Dysplasia Smith-McCort dysplasia GenCC
Associations from Text Mining
Disease Name Relationship Type References
Coxa Vara Associate 34284742
Growth Disorders Associate 34284742
HEM dysplasia Associate 34284742
Lung Neoplasms Associate 29576497
Osteosarcoma Associate 34335109
Pectus Carinatum Associate 34284742
Smith McCort Dysplasia Associate 23042644
Spinal Diseases Associate 34284742