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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
95
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Pathogenic rs1750416123 RCV004584436
Smith-McCort dysplasia 2 Pathogenic; Likely pathogenic rs1750416123, rs2111067418, rs2111087458, rs1187861686, rs1085307128, rs1085307130, rs1085307131, rs1561002040, rs587776958, rs886044716 RCV001352912
RCV001420351
RCV001420350
RCV001420352
RCV000488447
RCV000488443
RCV000488449
RCV000735865
RCV000043483
RCV000043484
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RAB33B-related disorder Conflicting classifications of pathogenicity rs140381459 RCV003938511
Smith-McCort dysplasia Uncertain significance; Benign; Likely benign rs886059072, rs13126617, rs886059075, rs190790812, rs10604111, rs886059071, rs886059073, rs886059074, rs774087744, rs535498698, rs76593161, rs886059076 RCV000290565
RCV000315111
RCV000369743
RCV000399338
RCV000271917
RCV000339748
RCV000345423
RCV000396529
RCV000261851
RCV000394880
RCV000311411
RCV000356865
Associations from Text MiningDisease associations identified through Pubtator
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