Gene Gene information from NCBI Gene database.
Entrez ID 83452
Gene name RAB33B, member RAS oncogene family
Gene symbol RAB33B
Synonyms (NCBI Gene)
SMC2
Chromosome 4
Chromosome location 4q31.1
Summary 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.
3
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.
516
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 23202584
GO:0000045 Process Autophagosome assembly IEA
GO:0000045 Process Autophagosome assembly IMP 30778222
GO:0000139 Component Golgi membrane IDA 32960676
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605950 16075 ENSG00000172007
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
Smith-McCort dysplasia 2 Pathogenic; Likely pathogenic rs1750416123, rs2111067418, rs2111087458, rs1187861686, rs1085307128, rs1085307130, rs1085307131, rs1561002040, rs587776958, rs886044716 RCV001352912
RCV001420351
RCV001420350
RCV001420352
RCV000488447
View all (5 more)
★★★★★
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
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RAB33B-related disorder Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Smith-McCort dysplasia Uncertain significance; Benign; Likely benign ClinVar
Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 38102665 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36281130 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27432226
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 30372866
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 31262291 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Diseases Colonic disease Pubtator 38102665 Associate
★☆☆☆☆
Found in Text Mining only