RAB14
protein-codingRAB14, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases
Gene summary
RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~44.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0700092
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0700092
Submitter: G2P
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to RAB14 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016322.4. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 15 | 0 | 2 | 17 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057406.2 | 7 | MANE Select | |
| Ensembl | ENSP00000362946.4 | 7 | MANE Select | |
| Ensembl | ENSP00000400107.1 | 7 | Standard | |
| Ensembl | ENSP00000515610.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- AMPK signaling pathway - Homo sapiens (human)
- Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
- Neutrophil degranulation
- Vesicle-mediated transport
- Membrane Trafficking
Biological Process
- phosphatidylinositol biosynthetic process
- intracellular protein transport
- Golgi to endosome transport
- fibroblast growth factor receptor signaling pathway
- vesicle-mediated transport
Molecular Function
- GTPase activity
- protein binding
- GTP binding
- GDP binding
- myosin V binding
Cellular Component
- Golgi membrane
- lysosome
- lysosomal membrane
- early endosome
- late endosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000373840
- Coding exons
- 7
- Length
- 44878
- Individuals with no LoFs
- 120788
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 9
- Defined
- 120797
- p
- 0.0000373
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.85 | 30 | 117 | 0.257 | 0.00000586 | 1408 |
| Missense (PolyPhen) | 3 | 46.053 | 0.065142 | 543 | ||
| Synonymous | 1.45 | 27 | 38.4 | 0.702 | 0.00000195 | 380 |
| Loss of Function | 3.46 | 0 | 14.0 | 0.00 | 7.67e-7 | 161 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000093 | 0.000093 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.000049 | 0.000049 | rare |
| European (Non-Finnish) | 0.000036 | 0.000036 | rare |
| South Asian | 0.000034 | 0.000034 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N- cadherin/CDH2 shedding and cell-cell adhesion. {ECO:0000250, ECO:0000269|PubMed:22595670}.;
Recessive Scores
- pRec
- 0.163
Intolerance Scores
- RVIS EVS
- -0.01
- RVIS percentile EVS
- 52.85
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.988
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |