RAB10

protein-coding

RAB10, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009]

MANE transcript

NM_016131.5

Inheritance

—

ClinVar variants

U:13B:1

Top phenotype

CIC-rearranged sarcoma

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr2:26,034,084-26,137,454

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~103.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RAB10 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 7
not providedTotal: 3
CIC-rearranged sarcomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016131.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
2
missense
9
clinvar
9
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
3
clinvar
3
Total00130114
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_016131.5RefSeqNP_057215.36MANE Select
ENST00000264710.5EnsemblENSP00000264710.46MANE Select
ENST00000906079.1EnsemblENSP00000576138.16Standard
ENST00000906079.2EnsemblENSP00000576138.16Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
rab10Danio rerio

Structure: cranial nerve II

Quality: decreased width

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Endocytosis - Homo sapiens (human)
  • AMPK signaling pathway - Homo sapiens (human)
  • Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
  • Neutrophil degranulation
  • Vesicle-mediated transport

Biological Process

  • intracellular protein transport
  • Golgi to plasma membrane transport
  • vesicle docking involved in exocytosis
  • axonogenesis
  • protein secretion

Molecular Function

  • GTPase activity
  • protein binding
  • GTP binding
  • GDP binding
  • myosin V binding

Cellular Component

  • Golgi membrane
  • exocyst
  • endosome
  • endoplasmic reticulum membrane
  • Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000264710
Coding exons
6
Length
103348
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.63321090.2920.000005311338
Missense (PolyPhen)245.880.043592560
Synonymous0.7653541.30.8480.00000234355
Loss of Function3.08011.10.006.14e-7128

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
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 recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane. Regulates, for instance, SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane. In parallel, it regulates the transport of TLR4, a toll-like receptor to the plasma membrane and therefore may be important for innate immune response. Plays also a specific role in asymmetric protein transport to the plasma membrane within the polarized neuron and epithelial cells. In neurons, it is involved in axonogenesis through regulation of vesicular membrane trafficking toward the axonal plasma membrane while in epithelial cells, it regulates transport from the Golgi to the basolateral membrane. Moreover, may play a role in the basolateral recycling pathway and in phagosome maturation. According to PubMed:23263280, may play a role in endoplasmic reticulum dynamics and morphology controlling tubulation along microtubules and tubules fusion. {ECO:0000250, ECO:0000269|PubMed:16641372, ECO:0000269|PubMed:21248164, ECO:0000269|PubMed:23263280}.;

Intolerance Scores

RVIS EVS
0.01
RVIS percentile EVS
54.63

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.881

Gene Damage Prediction

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyLowLowLow
CancerLowLowLow
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