RAN
RAN, member RAS oncogene family, the group of RAN family GTPases
Basic information
Region (hg38): 12:130872037-130877678
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAN gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 1 |
Variants in RAN
This is a list of pathogenic ClinVar variants found in the RAN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-130873046-C-T | Benign (Dec 31, 2019) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAN | protein_coding | protein_coding | ENST00000543796 | 6 | 5800 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.976 | 0.0242 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.42 | 13 | 117 | 0.111 | 0.00000561 | 1423 |
| Missense in Polyphen | 1 | 34.419 | 0.029054 | 484 | ||
| Synonymous | -3.06 | 71 | 44.9 | 1.58 | 0.00000244 | 402 |
| Loss of Function | 3.13 | 0 | 11.4 | 0.00 | 6.64e-7 | 134 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: GTPase involved in nucleocytoplasmic transport, participating both to the import and the export from the nucleus of proteins and RNAs (PubMed:10400640, PubMed:8276887, PubMed:8896452, PubMed:8636225, PubMed:8692944, PubMed:9351834, PubMed:9428644, PubMed:9822603, PubMed:26272610). Switches between a cytoplasmic GDP- and a nuclear GTP-bound state by nucleotide exchange and GTP hydrolysis (PubMed:7819259, PubMed:8896452, PubMed:8636225, PubMed:8692944, PubMed:9351834, PubMed:9428644, PubMed:9822603, PubMed:29040603, PubMed:11336674, PubMed:26272610). Nuclear import receptors such as importin beta bind their substrates only in the absence of GTP-bound RAN and release them upon direct interaction with GTP-bound RAN, while export receptors behave in the opposite way. Thereby, RAN controls cargo loading and release by transport receptors in the proper compartment and ensures the directionality of the transport (PubMed:8896452, PubMed:9351834, PubMed:9428644). Interaction with RANBP1 induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). RAN (GTP-bound form) triggers microtubule assembly at mitotic chromosomes and is required for normal mitotic spindle assembly and chromosome segregation (PubMed:10408446, PubMed:29040603). Required for normal progress through mitosis (PubMed:8421051, PubMed:12194828, PubMed:29040603). The complex with BIRC5/survivin plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). Acts as a negative regulator of the kinase activity of VRK1 and VRK2 (PubMed:18617507). Enhances AR-mediated transactivation. Transactivation decreases as the poly-Gln length within AR increases (PubMed:10400640). {ECO:0000269|PubMed:10400640, ECO:0000269|PubMed:10408446, ECO:0000269|PubMed:11336674, ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:18591255, ECO:0000269|PubMed:18617507, ECO:0000269|PubMed:20485264, ECO:0000269|PubMed:29040603, ECO:0000269|PubMed:7819259, ECO:0000269|PubMed:8276887, ECO:0000269|PubMed:8421051, ECO:0000269|PubMed:8636225, ECO:0000269|PubMed:8692944, ECO:0000269|PubMed:8896452, ECO:0000269|PubMed:9351834, ECO:0000269|PubMed:9428644, ECO:0000269|PubMed:9822603, ECO:0000305|PubMed:26272610}.;
- Pathway
- Ribosome biogenesis in eukaryotes - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);RNA transport - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Androgen receptor signaling pathway;miRNA Biogenesis;tRNA processing;Disease;Gene expression (Transcription);role of ran in mitotic spindle regulation;sumoylation by ranbp2 regulates transcriptional repression;cycling of ran in nucleocytoplasmic transport;Metabolism of lipids;Rev-mediated nuclear export of HIV RNA;Late Phase of HIV Life Cycle;HIV Life Cycle;Interactions of Rev with host cellular proteins;Host Interactions of HIV factors;HIV Infection;Export of Viral Ribonucleoproteins from Nucleus;NEP/NS2 Interacts with the Cellular Export Machinery;Influenza Life Cycle;Influenza Infection;Regulation of cholesterol biosynthesis by SREBP (SREBF);Metabolism of RNA;TCR;Infectious disease;Metabolism;Fibroblast growth factor-1;Metabolism of steroids;AndrogenReceptor;Aurora A signaling;tRNA processing in the nucleus;mechanism of protein import into the nucleus;Signaling events mediated by HDAC Class II;Nuclear import of Rev protein;Transcriptional regulation by small RNAs;Canonical NF-kappaB pathway;MicroRNA (miRNA) biogenesis;Sumoylation by RanBP2 regulates transcriptional repression;FoxO family signaling;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Signaling events mediated by HDAC Class I;Gene Silencing by RNA
(Consensus)
Recessive Scores
- pRec
- 0.260
Intolerance Scores
- loftool
- rvis_EVS
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.737
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.951
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ran
- Phenotype
Zebrafish Information Network
- Gene name
- ran
- Affected structure
- post-vent region
- Phenotype tag
- abnormal
- Phenotype quality
- bent
Gene ontology
- Biological process
- ribosomal large subunit export from nucleus;ribosomal small subunit export from nucleus;obsolete protein import into nucleus, translocation;mitotic sister chromatid segregation;mitotic cell cycle;DNA metabolic process;tRNA export from nucleus;protein import into nucleus;protein export from nucleus;mitotic spindle organization;spermatid development;miRNA metabolic process;viral process;hippocampus development;actin cytoskeleton organization;androgen receptor signaling pathway;positive regulation of protein binding;cellular protein-containing complex localization;pre-miRNA export from nucleus;regulation of cholesterol biosynthetic process;positive regulation of transcription, DNA-templated;GTP metabolic process;cell division;snRNA import into nucleus;cellular response to mineralocorticoid stimulus;intracellular transport of virus;protein localization to nucleolus
- Cellular component
- chromatin;male germ cell nucleus;manchette;nucleus;nuclear envelope;nuclear pore;nucleoplasm;nucleolus;cytoplasm;centriole;cytosol;membrane;midbody;protein-containing complex;sperm flagellum;melanosome;RNA nuclear export complex;host cell;recycling endosome;extracellular exosome;Flemming body
- Molecular function
- magnesium ion binding;chromatin binding;transcription coactivator activity;RNA binding;GTPase activity;nuclear export signal receptor activity;protein binding;GTP binding;GDP binding;protein domain specific binding;protein-containing complex binding;cadherin binding;dynein intermediate chain binding;protein heterodimerization activity;androgen receptor binding;importin-alpha family protein binding;pre-miRNA binding