Gene Gene information from NCBI Gene database.
Entrez ID 83871
Gene name RAB34, member RAS oncogene family
Gene symbol RAB34
Synonyms (NCBI Gene)
NARROFD20RAB39RAH
Chromosome 17
Chromosome location 17q11.2
Summary This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the acti
miRNA miRNA information provided by mirtarbase database.
179
miRTarBase ID miRNA Experiments Reference
MIRT001202 hsa-miR-9-5p Luciferase reporter assayWestern blot 19531230
MIRT001202 hsa-miR-9-5p Luciferase reporter assayWestern blot 19531230
MIRT001511 hsa-miR-155-5p pSILAC 18668040
MIRT020139 hsa-miR-130b-3p Sequencing 20371350
MIRT001511 hsa-miR-155-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 16138900, 25910212
GO:0005525 Function GTP binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610917 16519 ENSG00000109113
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DI83
Protein name Ras-related protein Rab-34, isoform NARR (Nine amino-acid residue-repeats)
Family and domains
Sequence
MVGQPQPRDDVGSPRPRVIVGTIRPRVIVGTIRPRVIVGSARARPPPDGTPRPQLAAEES
PRPRVIFGTPRARVILGSPRPRVIVSSPWPAVVVASPRPRTPVGSPWPRVVVGTPRPRVI
VGSPRARVADADPASAPSQGALQGRRQDEHSGTRAEGSRPGGAAPVPEEGGRFARAQRLP
PPRHLRLPGAPDRHRGQI
Sequence length 198
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZG1
Protein name Ras-related protein Rab-34 (EC 3.6.5.2) (Ras-related protein Rab-39) (Ras-related protein Rah)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 54 218 Ras family Domain
Sequence
Sequence length 259
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB geranylgeranylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Jeune thoracic dystrophy Likely pathogenic rs750408092, rs757465924 RCV003237334
RCV003237335
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome 20 Likely pathogenic; Pathogenic rs750408092, rs757465924, rs2544303152, rs910197266 RCV003761642
RCV003761643
RCV003764496
RCV003764497
★★★★☆
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
OROFACIODIGITAL SYNDROME XX Disgenet, HPO
Disgenet, HPO
★★☆☆☆
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
Breast Carcinoma Breast Carcinoma BEFREE 29622794
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38159835 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 25501506
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 25501506, 36222286 Associate
★☆☆☆☆
Found in Text Mining only
Hereditary hemochromatosis Hereditary Hemochromatosis BEFREE 31465935
★☆☆☆☆
Found in Text Mining only
Hypertension Diastolic Resistance to Resistant hypertension Pubtator 36222286 Stimulate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29048615
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms BEFREE 28912048
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29622794
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29622794
★☆☆☆☆
Found in Text Mining only