CDC42 (cell division cycle 42) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CDC42 (cell division cycle 42) Homo sapiens
Analyze
Symbol: CDC42
Name: cell division cycle 42
RGD ID: 730976
HGNC Page HGNC:1736
Description: Enables several functions, including GBD domain binding activity; GTP binding activity; and enzyme binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cellular component organization; and regulation of cell cycle process. Located in several cellular components, including dendritic spine; midbody; and spindle. Part of Golgi transport complex. Colocalizes with centrosome. Implicated in fibrosarcoma. Biomarker of Alzheimer's disease; bipolar disorder; pancreatic cancer; and rhinitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDC42Hs; cell division control protein 42 homolog; cell division cycle 42 (GTP binding protein, 25kDa); dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD)); dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD)); G25K; G25K GTP-binding protein; growth-regulating protein; GTP binding protein, 25kDa; GTP-binding protein, 25kD; small GTP binding protein CDC42; TKS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CDC42P1   CDC42P2   CDC42P3   CDC42P4   CDC42P5   CDC42P6   CDC42P7   LOC101409255   LOC101409256  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38122,052,709 - 22,101,360 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl122,052,627 - 22,101,360 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,379,202 - 22,427,853 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,251,707 - 22,292,023 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,124,487 - 22,164,741NCBI
Celera120,702,109 - 20,742,389 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef120,622,960 - 20,663,212 (+)NCBIHuRef
CHM1_1122,491,651 - 22,531,931 (+)NCBICHM1_1
T2T-CHM13v2.0121,876,517 - 21,925,101 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dichlorobenzene  (ISO)
1,8-cineole  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
bazedoxifene  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (EXP)
carboplatin  (ISO)
casticin  (ISO)
cefaloridine  (ISO)
CGP 52608  (EXP)
chrysene  (ISO)
cisplatin  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
disodium selenite  (EXP)
ethanol  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
gallic acid  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
GTP  (EXP,ISO)
haloperidol  (ISO)
hexaconazole  (ISO)
hydralazine  (EXP)
hypochlorous acid  (ISO)
indometacin  (ISO)
ivermectin  (EXP)
kainic acid  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lovastatin  (EXP,ISO)
mercury dichloride  (ISO)
metformin  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
methylseleninic acid  (EXP)
microcystin-LR  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodimethylamine  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
NSC 23766  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
pioglitazone  (EXP)
piroxicam  (EXP)
Propiverine  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
Risedronate sodium  (EXP,ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
simvastatin  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
toosendanin  (EXP)
tremolite asbestos  (EXP)
triadimefon  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
valproic acid  (EXP)
warfarin  (ISO)
zinc oxide  (EXP)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (IBA,IDA)
actin filament branching  (ISO)
actin filament organization  (IMP,ISO)
adherens junction organization  (IEA,ISO)
anatomical structure morphogenesis  (IEA)
cardiac conduction system development  (IEA,ISO)
cardiac neural crest cell migration involved in outflow tract morphogenesis  (IEA)
Cdc42 protein signal transduction  (IBA)
cell differentiation  (IEA)
cell division  (IEA)
cell junction assembly  (IMP)
cellular response to type II interferon  (IEA,ISO)
dendritic cell migration  (IEA,ISO)
dendritic spine morphogenesis  (IEA,ISS)
embryonic heart tube development  (IEA)
endocytosis  (IBA,IEA,ISO)
endothelin receptor signaling pathway involved in heart process  (IEA)
establishment of epithelial cell apical/basal polarity  (IMP)
establishment of Golgi localization  (ISS)
establishment of localization in cell  (IEA,ISO)
establishment or maintenance of apical/basal cell polarity  (IEA,ISO)
establishment or maintenance of cell polarity  (IBA,IEA,TAS)
filopodium assembly  (IEA,ISO)
Golgi organization  (ISS)
heart contraction  (IEA,ISO)
integrin-mediated signaling pathway  (IMP)
macrophage differentiation  (TAS)
modification of synaptic structure  (IBA)
negative regulation of protein-containing complex assembly  (IPI)
nervous system development  (IEA)
neuron fate determination  (IEA,ISO)
neuropilin signaling pathway  (IMP)
nuclear migration  (IEA,ISO)
nucleus localization  (IEA,ISO)
organelle transport along microtubule  (ISS)
phagocytosis, engulfment  (IMP)
positive regulation of catalytic activity  (ISO)
positive regulation of cell growth  (IMP)
positive regulation of cell migration  (IMP)
positive regulation of cellular component organization  (IEA)
positive regulation of cytokinesis  (IMP)
positive regulation of DNA replication  (ISO)
positive regulation of epithelial cell proliferation involved in lung morphogenesis  (IEA)
positive regulation of filopodium assembly  (IEA,IMP,ISS)
positive regulation of intracellular protein transport  (ISO)
positive regulation of JNK cascade  (ISO)
positive regulation of lamellipodium assembly  (IMP)
positive regulation of MAPK cascade  (IEA,ISO)
positive regulation of neuron apoptotic process  (ISO)
positive regulation of phosphatidylinositol 3-kinase activity  (IEA,ISO)
positive regulation of pinocytosis  (IEA,ISS)
positive regulation of pseudopodium assembly  (IDA)
positive regulation of stress fiber assembly  (IMP)
positive regulation of substrate adhesion-dependent cell spreading  (IDA)
positive regulation of synapse structural plasticity  (ISO)
protein localization  (IEA,ISO)
protein phosphorylation  (IEA)
regulation of actin cytoskeleton organization  (IMP)
regulation of attachment of spindle microtubules to kinetochore  (IMP)
regulation of filopodium assembly  (IDA)
regulation of lamellipodium assembly  (IGI)
regulation of mitotic nuclear division  (IEA,ISO)
regulation of modification of postsynaptic structure  (ISO)
regulation of postsynapse organization  (IEA)
regulation of protein binding  (IEA,ISO)
regulation of stress fiber assembly  (IGI)
small GTPase mediated signal transduction  (IEA)
sprouting angiogenesis  (ISO)
submandibular salivary gland formation  (ISO)
substantia nigra development  (HEP)
Wnt signaling pathway, planar cell polarity pathway  (NAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absent speech  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brain imaging abnormality  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clinodactyly  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Dental malocclusion  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Eversion of lateral third of lower eyelids  (IAGP)
Exotropia  (IAGP)
Flared nostrils  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Highly arched eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Immunodeficiency  (IAGP)
Increased mean platelet volume  (IAGP)
Infantile muscular hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lymphedema  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Narrow forehead  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nevus  (IAGP)
Optic atrophy  (IAGP)
Overlapping toe  (IAGP)
Patent ductus arteriosus  (IAGP)
Poor speech  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Progressive microcephaly  (IAGP)
Prominent forehead  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent infections  (IAGP)
Reduced visual acuity  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short philtrum  (IAGP)
Smooth philtrum  (IAGP)
Sparse eyebrow  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tapered finger  (IAGP)
Tented upper lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Thrombocytopenia  (IAGP)
Total anomalous pulmonary venous return  (IAGP)
Unilateral renal agenesis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Webbed neck  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genes regulating molecular and cellular functions in noninfectious nonallergic rhinitis. Cardell LO, etal., Allergy. 2009 Sep;64(9):1301-8. Epub 2009 Apr 27.
2. Mechanisms and functions of p38 MAPK signalling. Cuadrado A and Nebreda AR, Biochem J. 2010 Aug 1;429(3):403-17. doi: 10.1042/BJ20100323.
3. RhoA, RhoB, RhoC, Rac1, Cdc42, and Tc10 mRNA levels in spinal cord, sensory ganglia, and corticospinal tract neurons and long-lasting specific changes following spinal cord injury. Erschbamer MK, etal., J Comp Neurol. 2005 Apr 4;484(2):224-33.
4. MEK kinases are regulated by EGF and selectively interact with Rac/Cdc42. Fanger GR, etal., EMBO J. 1997 Aug 15;16(16):4961-72.
5. Geranylgeranyltransferase type I (GGTase-I) deficiency hyperactivates macrophages and induces erosive arthritis in mice. Khan OM, etal., J Clin Invest. 2011 Feb;121(2):628-39. doi: 10.1172/JCI43758. Epub 2011 Jan 25.
6. An immune escape screen reveals Cdc42 as regulator of cancer susceptibility to lymphocyte-mediated tumor suppression. Marques CA, etal., Blood. 2008 Feb 1;111(3):1413-9. Epub 2007 Oct 30.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. A discriminating messenger RNA signature for bipolar disorder formed by an aberrant expression of inflammatory genes in monocytes. Padmos RC, etal., Arch Gen Psychiatry. 2008 Apr;65(4):395-407.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways. Sharma AK, etal., Toxicol Pathol. 2009 Oct;37(6):776-89. Epub 2009 Aug 21.
15. Signaling from the small GTP-binding proteins Rac1 and Cdc42 to the c-Jun N-terminal kinase/stress-activated protein kinase pathway. A role for mixed lineage kinase 3/protein-tyrosine kinase 1, a novel member of the mixed lineage kinase family. Teramoto H, etal., J Biol Chem. 1996 Nov 1;271(44):27225-8.
16. Mechanisms of biphasic insulin-granule exocytosis - roles of the cytoskeleton, small GTPases and SNARE proteins. Wang Z and Thurmond DC, J Cell Sci. 2009 Apr 1;122(Pt 7):893-903.
17. High Expression of Cell Division Cycle 42 Promotes Pancreatic Cancer Growth and Predicts Poor Outcome of Pancreatic Cancer Patients. Yang D, etal., Dig Dis Sci. 2017 Apr;62(4):958-967. doi: 10.1007/s10620-017-4451-z. Epub 2017 Feb 8.
18. Down-regulation Cdc42 attenuates neuronal apoptosis through inhibiting MLK3/JNK3 cascade during ischemic reperfusion in rat hippocampus. Zhao J, etal., Cell Signal. 2007 Apr;19(4):831-43. Epub 2006 Dec 8.
19. Activation of oncogenic pathways in degenerating neurons in Alzheimer disease. Zhu X, etal., Int J Dev Neurosci. 2000 Jul-Aug;18(4-5):433-7.
Additional References at PubMed
PMID:1898776   PMID:1956381   PMID:2122236   PMID:2124704   PMID:2496687   PMID:7493928   PMID:7512369   PMID:7513047   PMID:7547927   PMID:7629060   PMID:7665558   PMID:7738010  
PMID:7744004   PMID:8034624   PMID:8107774   PMID:8625410   PMID:8643625   PMID:8670801   PMID:8702968   PMID:8755667   PMID:8756646   PMID:8798539   PMID:8889548   PMID:8943016  
PMID:8969170   PMID:8994833   PMID:9032261   PMID:9079650   PMID:9082982   PMID:9113980   PMID:9182573   PMID:9210375   PMID:9220962   PMID:9262406   PMID:9268338   PMID:9338791  
PMID:9381982   PMID:9407060   PMID:9418861   PMID:9422512   PMID:9427749   PMID:9490022   PMID:9535835   PMID:9535855   PMID:9582072   PMID:9642115   PMID:9660763   PMID:9705280  
PMID:9742969   PMID:9748241   PMID:9760238   PMID:9786927   PMID:9799233   PMID:9822598   PMID:9846874   PMID:9860974   PMID:10051605   PMID:10068673   PMID:10211824   PMID:10320322  
PMID:10360578   PMID:10360579   PMID:10366564   PMID:10403766   PMID:10480361   PMID:10490598   PMID:10551883   PMID:10587647   PMID:10676816   PMID:10684602   PMID:10713100   PMID:10713183  
PMID:10724160   PMID:10733591   PMID:10747870   PMID:10749885   PMID:10781580   PMID:10799501   PMID:10799524   PMID:10802735   PMID:10816584   PMID:10818149   PMID:10854437   PMID:10873802  
PMID:10934474   PMID:10954424   PMID:10954711   PMID:10967094   PMID:10975523   PMID:11035016   PMID:11090627   PMID:11130076   PMID:11157984   PMID:11257000   PMID:11260256   PMID:11278572  
PMID:11284700   PMID:11287617   PMID:11331876   PMID:11394904   PMID:11431473   PMID:11432776   PMID:11438723   PMID:11583574   PMID:11584266   PMID:11584276   PMID:11672528   PMID:11696321  
PMID:11756552   PMID:11773441   PMID:11807099   PMID:11822867   PMID:11839748   PMID:11884513   PMID:11889037   PMID:11907271   PMID:11943145   PMID:11948177   PMID:11973651   PMID:11998687  
PMID:12006984   PMID:12032833   PMID:12093730   PMID:12110184   PMID:12115629   PMID:12172552   PMID:12181570   PMID:12235133   PMID:12270144   PMID:12369824   PMID:12376551   PMID:12421766  
PMID:12426222   PMID:12432077   PMID:12446789   PMID:12453877   PMID:12456510   PMID:12477932   PMID:12504591   PMID:12511425   PMID:12538863   PMID:12547822   PMID:12584113   PMID:12595527  
PMID:12606577   PMID:12612085   PMID:12650940   PMID:12745076   PMID:12767056   PMID:12769846   PMID:12819203   PMID:12824775   PMID:12857875   PMID:12860998   PMID:12879077   PMID:12887916  
PMID:12887922   PMID:12887923   PMID:12900413   PMID:12901880   PMID:12915445   PMID:12928366   PMID:12944407   PMID:12960245   PMID:12960248   PMID:12972601   PMID:14505571   PMID:14530271  
PMID:14563854   PMID:14597672   PMID:14656933   PMID:14676191   PMID:14699061   PMID:14701795   PMID:14733946   PMID:14749388   PMID:14970210   PMID:14978216   PMID:15023524   PMID:15075243  
PMID:15085137   PMID:15102814   PMID:15121898   PMID:15123659   PMID:15123662   PMID:15133042   PMID:15147912   PMID:15187089   PMID:15194684   PMID:15260990   PMID:15265891   PMID:15287724  
PMID:15304341   PMID:15306850   PMID:15355962   PMID:15361624   PMID:15451670   PMID:15472119   PMID:15485837   PMID:15489334   PMID:15548653   PMID:15601624   PMID:15616194   PMID:15642749  
PMID:15649357   PMID:15652341   PMID:15652748   PMID:15655247   PMID:15713627   PMID:15723050   PMID:15728253   PMID:15728724   PMID:15735674   PMID:15761153   PMID:15793569   PMID:15803130  
PMID:15821030   PMID:15822942   PMID:15824104   PMID:15833843   PMID:15834156   PMID:15864311   PMID:15901767   PMID:15923648   PMID:16052498   PMID:16169070   PMID:16189514   PMID:16201754  
PMID:16204230   PMID:16228294   PMID:16246732   PMID:16253996   PMID:16293614   PMID:16322481   PMID:16356860   PMID:16380373   PMID:16407834   PMID:16443932   PMID:16678097   PMID:16687395  
PMID:16710414   PMID:16751776   PMID:16849480   PMID:16864657   PMID:16880514   PMID:16930532   PMID:16968699   PMID:16983070   PMID:17038317   PMID:17074883   PMID:17115031   PMID:17145773  
PMID:17254974   PMID:17300218   PMID:17301947   PMID:17346701   PMID:17353931   PMID:17356711   PMID:17430976   PMID:17513457   PMID:17513786   PMID:17517067   PMID:17521326   PMID:17538024  
PMID:17567985   PMID:17664338   PMID:17693642   PMID:17702745   PMID:17976533   PMID:18045877   PMID:18056264   PMID:18056353   PMID:18057010   PMID:18235104   PMID:18245386   PMID:18245474  
PMID:18287089   PMID:18319301   PMID:18325348   PMID:18334926   PMID:18348980   PMID:18363964   PMID:18403635   PMID:18426980   PMID:18432521   PMID:18541383   PMID:18541478   PMID:18541705  
PMID:18552504   PMID:18565850   PMID:18575765   PMID:18586681   PMID:18624398   PMID:18628988   PMID:18656530   PMID:18728402   PMID:18809683   PMID:18835169   PMID:18838868   PMID:18922799  
PMID:18937283   PMID:18974134   PMID:19001128   PMID:19039103   PMID:19056867   PMID:19109421   PMID:19171758   PMID:19199708   PMID:19273597   PMID:19307303   PMID:19322201   PMID:19356586  
PMID:19376974   PMID:19416857   PMID:19435802   PMID:19454477   PMID:19463088   PMID:19473971   PMID:19561083   PMID:19596003   PMID:19622753   PMID:19635823   PMID:19640983   PMID:19641023  
PMID:19667218   PMID:19692568   PMID:19709124   PMID:19710257   PMID:19718053   PMID:19726670   PMID:19752396   PMID:19778949   PMID:19787194   PMID:19798448   PMID:19819966   PMID:19826000  
PMID:19933840   PMID:19934222   PMID:19946888   PMID:20023705   PMID:20056178   PMID:20067638   PMID:20086093   PMID:20130240   PMID:20215637   PMID:20403997   PMID:20458337   PMID:20530489  
PMID:20545942   PMID:20631255   PMID:20696164   PMID:20730103   PMID:20806065   PMID:20849862   PMID:20873783   PMID:20890305   PMID:20936779   PMID:20945370   PMID:21029865   PMID:21036919  
PMID:21048135   PMID:21048939   PMID:21122105   PMID:21165582   PMID:21167153   PMID:21186079   PMID:21221794   PMID:21240187   PMID:21295525   PMID:21302623   PMID:21311754   PMID:21356349  
PMID:21423176   PMID:21435037   PMID:21454543   PMID:21562048   PMID:21566117   PMID:21603851   PMID:21613211   PMID:21618528   PMID:21667996   PMID:21685891   PMID:21866627   PMID:21873635  
PMID:21876773   PMID:21900206   PMID:21952626   PMID:21988832   PMID:21994733   PMID:22023324   PMID:22092654   PMID:22093623   PMID:22126964   PMID:22213037   PMID:22252508   PMID:22266952  
PMID:22318733   PMID:22341450   PMID:22362774   PMID:22385474   PMID:22393238   PMID:22453919   PMID:22589722   PMID:22608513   PMID:22610502   PMID:22653441   PMID:22683270   PMID:22719838  
PMID:22721673   PMID:22770822   PMID:22796473   PMID:22801373   PMID:22821962   PMID:22844345   PMID:22863883   PMID:22891260   PMID:22926577   PMID:22939629   PMID:23022564   PMID:23029280  
PMID:23119100   PMID:23142484   PMID:23148235   PMID:23175184   PMID:23178712   PMID:23197258   PMID:23254359   PMID:23295348   PMID:23337504   PMID:23358418   PMID:23376485   PMID:23420497  
PMID:23439680   PMID:23455922   PMID:23521319   PMID:23533145   PMID:23562274   PMID:23583380   PMID:23606532   PMID:23620790   PMID:23622765   PMID:23625752   PMID:23644655   PMID:23696594  
PMID:23718289   PMID:23834289   PMID:23884297   PMID:23894465   PMID:23936510   PMID:23941980   PMID:24006489   PMID:24025765   PMID:24041540   PMID:24059268   PMID:24074261   PMID:24076653  
PMID:24178298   PMID:24220306   PMID:24276241   PMID:24284073   PMID:24345190   PMID:24352036   PMID:24352656   PMID:24379416   PMID:24393843   PMID:24405483   PMID:24413169   PMID:24431302  
PMID:24584464   PMID:24610809   PMID:24613926   PMID:24713550   PMID:24817781   PMID:24905281   PMID:24970760   PMID:25022753   PMID:25032689   PMID:25057989   PMID:25074804   PMID:25097232  
PMID:25109462   PMID:25160664   PMID:25172658   PMID:25241761   PMID:25264923   PMID:25267295   PMID:25284480   PMID:25365944   PMID:25379703   PMID:25394485   PMID:25400770   PMID:25416956  
PMID:25422375   PMID:25432132   PMID:25490006   PMID:25502805   PMID:25648615   PMID:25662318   PMID:25693804   PMID:25737280   PMID:25768293   PMID:25777055   PMID:25780896   PMID:25945738  
PMID:25963833   PMID:25981171   PMID:25982272   PMID:26004135   PMID:26022159   PMID:26051604   PMID:26051942   PMID:26067270   PMID:26068882   PMID:26071482   PMID:26242911   PMID:26299518  
PMID:26336992   PMID:26344197   PMID:26352279   PMID:26446261   PMID:26450120   PMID:26465210   PMID:26496610   PMID:26526116   PMID:26542736   PMID:26549550   PMID:26558612   PMID:26582347  
PMID:26598554   PMID:26598620   PMID:26631033   PMID:26634649   PMID:26689677   PMID:26704441   PMID:26708094   PMID:26740622   PMID:26760575   PMID:26783207   PMID:26905694   PMID:26911374  
PMID:26926567   PMID:26949251   PMID:26972000   PMID:26986510   PMID:27060895   PMID:27090015   PMID:27093550   PMID:27143109   PMID:27248291   PMID:27320924   PMID:27341132   PMID:27347659  
PMID:27355516   PMID:27463009   PMID:27486972   PMID:27524202   PMID:27540769   PMID:27566402   PMID:27576948   PMID:27659325   PMID:27684187   PMID:27685868   PMID:27730394   PMID:27769041  
PMID:27769693   PMID:27815503   PMID:27863394   PMID:27917469   PMID:28028151   PMID:28029388   PMID:28031525   PMID:28035419   PMID:28089832   PMID:28171565   PMID:28205554   PMID:28302793  
PMID:28317368   PMID:28376260   PMID:28389565   PMID:28393193   PMID:28432079   PMID:28450422   PMID:28451966   PMID:28460460   PMID:28514442   PMID:28539360   PMID:28539409   PMID:28548571  
PMID:28661476   PMID:28712289   PMID:28749339   PMID:28778865   PMID:28852060   PMID:28871124   PMID:29016860   PMID:29024936   PMID:29072916   PMID:29128334   PMID:29180619   PMID:29197552  
PMID:29229926   PMID:29295922   PMID:29298432   PMID:29335451   PMID:29358323   PMID:29376863   PMID:29394990   PMID:29509190   PMID:29511337   PMID:29568061   PMID:29596304   PMID:29659741  
PMID:29734338   PMID:29743604   PMID:29853638   PMID:29955894   PMID:30104412   PMID:30106159   PMID:30158931   PMID:30171198   PMID:30182785   PMID:30194290   PMID:30217970   PMID:30243721  
PMID:30408122   PMID:30427759   PMID:30442762   PMID:30446664   PMID:30489239   PMID:30543848   PMID:30575818   PMID:30581272   PMID:30667325   PMID:30724771   PMID:30781697   PMID:30784249  
PMID:30853411   PMID:30945288   PMID:30948266   PMID:30962261   PMID:31091453   PMID:31262449   PMID:31271789   PMID:31330900   PMID:31355328   PMID:31478661   PMID:31487690   PMID:31515488  
PMID:31527615   PMID:31536960   PMID:31586073   PMID:31690048   PMID:31776046   PMID:31825077   PMID:31871319   PMID:31957805   PMID:31975379   PMID:31980649   PMID:32086369   PMID:32129710  
PMID:32139664   PMID:32139668   PMID:32139877   PMID:32143485   PMID:32203420   PMID:32232899   PMID:32283203   PMID:32296183   PMID:32416067   PMID:32417998   PMID:32424669   PMID:32457219  
PMID:32460013   PMID:32481745   PMID:32595647   PMID:32643295   PMID:32673397   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32755011   PMID:32780723   PMID:32839429   PMID:32843668  
PMID:32901852   PMID:32913203   PMID:32929379   PMID:33023908   PMID:33097698   PMID:33098508   PMID:33171523   PMID:33194618   PMID:33205415   PMID:33279622   PMID:33283961   PMID:33341673  
PMID:33416138   PMID:33545068   PMID:33644029   PMID:33672558   PMID:33679729   PMID:33947818   PMID:33960104   PMID:33961781   PMID:34006635   PMID:34100887   PMID:34110575   PMID:34158849  
PMID:34196668   PMID:34215617   PMID:34225486   PMID:34321041   PMID:34373451   PMID:34373767   PMID:34374417   PMID:34504210   PMID:34520816   PMID:34582616   PMID:34709727   PMID:34717957  
PMID:34745083   PMID:34811660   PMID:34958986   PMID:35012549   PMID:35013218   PMID:35094293   PMID:35110666   PMID:35157921   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35412170  
PMID:35446349   PMID:35562734   PMID:35563538   PMID:35676659   PMID:35751703   PMID:35831314   PMID:35896951   PMID:35944360   PMID:36045593   PMID:36056002   PMID:36064550   PMID:36114006  
PMID:36164754   PMID:36192543   PMID:36215168   PMID:36225252   PMID:36571786   PMID:36598630   PMID:36631800   PMID:36650947   PMID:36883283   PMID:36936942  


Genomics

Comparative Map Data
CDC42
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38122,052,709 - 22,101,360 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl122,052,627 - 22,101,360 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,379,202 - 22,427,853 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,251,707 - 22,292,023 (+)NCBINCBI36Build 36hg18NCBI36
Build 34122,124,487 - 22,164,741NCBI
Celera120,702,109 - 20,742,389 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef120,622,960 - 20,663,212 (+)NCBIHuRef
CHM1_1122,491,651 - 22,531,931 (+)NCBICHM1_1
T2T-CHM13v2.0121,876,517 - 21,925,101 (+)NCBIT2T-CHM13v2.0
Cdc42
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394137,047,007 - 137,085,070 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4137,047,007 - 137,085,031 (-)EnsemblGRCm39 Ensembl
GRCm384137,319,696 - 137,357,759 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4137,319,696 - 137,357,720 (-)EnsemblGRCm38mm10GRCm38
MGSCv374136,875,611 - 136,913,652 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364136,591,779 - 136,608,205 (-)NCBIMGSCv36mm8
Celera4135,540,002 - 135,577,854 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map469.83NCBI
Cdc42
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25149,555,069 - 149,593,239 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5149,553,724 - 149,593,111 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5152,253,400 - 152,289,928 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.05154,027,699 - 154,064,227 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.05154,009,694 - 154,046,226 (-)NCBIRnor_WKY
Rnor_6.05155,690,267 - 155,728,385 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5155,691,390 - 155,728,300 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05159,446,154 - 159,485,163 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45156,106,123 - 156,143,040 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15156,116,164 - 156,153,079 (-)NCBI
Celera5147,953,334 - 147,989,998 (-)NCBICelera
Cytogenetic Map5q36NCBI
Cdc42
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554522,255,117 - 2,299,042 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554522,255,940 - 2,299,042 (+)NCBIChiLan1.0ChiLan1.0
CDC42
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11203,958,664 - 203,998,887 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0121,245,970 - 21,286,210 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1122,188,722 - 22,228,351 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC403934
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1277,153,276 - 77,169,947 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl277,153,095 - 77,199,211 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.044,445,564 - 4,446,293 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.144,457,005 - 4,457,734 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.044,574,515 - 4,575,244 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.044,796,130 - 4,796,859 (+)NCBIUU_Cfam_GSD_1.0
Cdc42
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505841,731,950 - 41,773,901 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364747,556,765 - 7,598,687 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDC42
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl680,035,123 - 80,089,233 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1680,035,034 - 80,089,243 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2674,057,184 - 74,116,824 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDC42
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120110,568,004 - 110,608,318 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20110,569,352 - 110,582,562 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660335,689,907 - 5,730,175 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdc42
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247646,874,453 - 6,891,952 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDC42
70 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001791.4(CDC42):c.346C>G (p.Gln116Glu) single nucleotide variant not provided [RCV000520976] Chr1:22086726 [GRCh38]
Chr1:22413219 [GRCh37]
Chr1:1p36.12		 likely pathogenic
NM_001791.4(CDC42):c.511G>A (p.Glu171Lys) single nucleotide variant Abnormal facial shape [RCV001291162]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV000607619]|Noonan-like syndrome [RCV000577848] Chr1:22091452 [GRCh38]
Chr1:22417945 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12		 pathogenic
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) single nucleotide variant Abnormal facial shape [RCV001291420]|Inborn genetic diseases [RCV000190749]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV002509288]|Neurodevelopmental disorder [RCV001374925]|not provided [RCV001093410] Chr1:22078546 [GRCh38]
Chr1:22405039 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) single nucleotide variant Abnormal facial shape [RCV001291422]|Inborn genetic diseases [RCV000190678]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV000601199] Chr1:22086456 [GRCh38]
Chr1:22412949 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1 copy number loss See cases [RCV000138071] Chr1:21399130..22696747 [GRCh38]
Chr1:21725623..23023240 [GRCh37]
Chr1:21598210..22895827 [NCBI36]
Chr1:1p36.12		 likely pathogenic|uncertain significance
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) single nucleotide variant Abnormal facial shape [RCV001291421]|Inborn genetic diseases [RCV001266021]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV000203307]|not provided [RCV000489915] Chr1:22086451 [GRCh38]
Chr1:22412944 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
chr1:17555508-24706269 complex variant complex Ductal breast carcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11		 uncertain significance
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln) single nucleotide variant Abnormal facial shape [RCV001291423]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV001332038]|not provided [RCV000519757] Chr1:22086463 [GRCh38]
Chr1:22412956 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001791.4(CDC42):c.124G>A (p.Val42Ile) single nucleotide variant not provided [RCV000414468] Chr1:22081740 [GRCh38]
Chr1:22408233 [GRCh37]
Chr1:1p36.12		 likely pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 copy number loss See cases [RCV000447314] Chr1:20067124..22537862 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_001791.4(CDC42):c.62T>C (p.Ile21Thr) single nucleotide variant Abnormal facial shape [RCV001291419]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV000601771]|not provided [RCV000481008] Chr1:22078540 [GRCh38]
Chr1:22405033 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe) single nucleotide variant Abnormal facial shape [RCV001291424]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV000604971]|not provided [RCV000497401] Chr1:22086502 [GRCh38]
Chr1:22412995 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic
NM_001791.4(CDC42):c.476C>T (p.Ala159Val) single nucleotide variant Abnormal facial shape [RCV001291426]|not provided [RCV000577829] Chr1:22086856 [GRCh38]
Chr1:22413349 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro) single nucleotide variant Abnormal facial shape [RCV001291425]|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV000611080]|not provided [RCV000577866] Chr1:22086507 [GRCh38]
Chr1:22413000 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001791.4(CDC42):c.106-109G>A single nucleotide variant not provided [RCV001691853] Chr1:22081613 [GRCh38]
Chr1:22408106 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.276C>T (p.Asn92=) single nucleotide variant not provided [RCV000905626] Chr1:22086536 [GRCh38]
Chr1:22413029 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.462T>C (p.Tyr154=) single nucleotide variant not provided [RCV000973272] Chr1:22086842 [GRCh38]
Chr1:22413335 [GRCh37]
Chr1:1p36.12		 benign
GRCh37/hg19 1p36.12(chr1:22392957-22436441)x3 copy number gain not provided [RCV000845775] Chr1:22392957..22436441 [GRCh37]
Chr1:1p36.12		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p36.12(chr1:22392957-22436247)x3 copy number gain not provided [RCV000845892] Chr1:22392957..22436247 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.137T>C (p.Ile46Thr) single nucleotide variant Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV000824997] Chr1:22081753 [GRCh38]
Chr1:22408246 [GRCh37]
Chr1:1p36.12		 likely pathogenic
GRCh37/hg19 1p36.12(chr1:22392957-22436441)x3 copy number gain not provided [RCV000845856] Chr1:22392957..22436441 [GRCh37]
Chr1:1p36.12		 uncertain significance
GRCh37/hg19 1p36.12(chr1:22392957-22431589)x3 copy number gain not provided [RCV000846980] Chr1:22392957..22431589 [GRCh37]
Chr1:1p36.12		 uncertain significance
NC_000001.10:g.(?_19199339)_(22987879_?)dup duplication Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Deficiency of pyrroline-5-carboxylate reductase [RCV003107740] Chr1:19199339..22987879 [GRCh37]
Chr1:1p36.13-36.12		 uncertain significance
NC_000001.10:g.(?_22403357)_(22418010_?)dup duplication not provided [RCV003107469] Chr1:22403357..22418010 [GRCh37]
Chr1:1p36.12		 likely benign
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
NM_001791.4(CDC42):c.563G>A (p.Cys188Tyr) single nucleotide variant not provided [RCV001570142] Chr1:22091504 [GRCh38]
Chr1:22417997 [GRCh37]
Chr1:1p36.12		 pathogenic
NM_001791.4(CDC42):c.178+178C>T single nucleotide variant not provided [RCV001716353] Chr1:22081972 [GRCh38]
Chr1:22408465 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.487-1465del deletion Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV001262707] Chr1:22089961 [GRCh38]
Chr1:22416454 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.67T>A (p.Tyr23Asn) single nucleotide variant not provided [RCV001268618] Chr1:22078545 [GRCh38]
Chr1:22405038 [GRCh37]
Chr1:1p36.12		 likely pathogenic
GRCh37/hg19 1p36.12(chr1:22396372-22763532)x3 copy number gain not provided [RCV001259564] Chr1:22396372..22763532 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln) single nucleotide variant Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV002245958]|not provided [RCV001312069] Chr1:22078579 [GRCh38]
Chr1:22405072 [GRCh37]
Chr1:1p36.12		 pathogenic|likely pathogenic|uncertain significance
NM_001791.4(CDC42):c.509A>G (p.Asp170Gly) single nucleotide variant See cases [RCV001420290] Chr1:22091450 [GRCh38]
Chr1:22417943 [GRCh37]
Chr1:1p36.12		 likely pathogenic
NM_001791.4(CDC42):c.106-3T>C single nucleotide variant not provided [RCV001516561] Chr1:22081719 [GRCh38]
Chr1:22408212 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.106-9dup duplication not provided [RCV001512652] Chr1:22081706..22081707 [GRCh38]
Chr1:22408199..22408200 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.470G>A (p.Cys157Tyr) single nucleotide variant not provided [RCV001767559] Chr1:22086850 [GRCh38]
Chr1:22413343 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.101C>T (p.Pro34Leu) single nucleotide variant not provided [RCV001765071] Chr1:22078579 [GRCh38]
Chr1:22405072 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.546G>A (p.Pro182=) single nucleotide variant not provided [RCV001934923] Chr1:22091487 [GRCh38]
Chr1:22417980 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.486G>A (p.Gln162=) single nucleotide variant not provided [RCV001989022] Chr1:22086866 [GRCh38]
Chr1:22413359 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.557G>A (p.Arg186His) single nucleotide variant not provided [RCV002019567] Chr1:22091498 [GRCh38]
Chr1:22417991 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.486+5G>A single nucleotide variant not provided [RCV002030616] Chr1:22086871 [GRCh38]
Chr1:22413364 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.294G>A (p.Val98=) single nucleotide variant not provided [RCV002168706] Chr1:22086674 [GRCh38]
Chr1:22413167 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.70A>C (p.Thr24Pro) single nucleotide variant not provided [RCV002211080] Chr1:22078548 [GRCh38]
Chr1:22405041 [GRCh37]
Chr1:1p36.12		 likely pathogenic
NM_001791.4(CDC42):c.510C>T (p.Asp170=) single nucleotide variant Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV002499996]|not provided [RCV002117347] Chr1:22091451 [GRCh38]
Chr1:22417944 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.207G>A (p.Pro69=) single nucleotide variant not provided [RCV002133178] Chr1:22086467 [GRCh38]
Chr1:22412960 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.178+8C>T single nucleotide variant not provided [RCV002174057] Chr1:22081802 [GRCh38]
Chr1:22408295 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.414T>A (p.Thr138=) single nucleotide variant not provided [RCV002116923] Chr1:22086794 [GRCh38]
Chr1:22413287 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.179-4C>A single nucleotide variant not provided [RCV002075029] Chr1:22086435 [GRCh38]
Chr1:22412928 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.179-5T>C single nucleotide variant not provided [RCV002152385] Chr1:22086434 [GRCh38]
Chr1:22412927 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.106-20T>A single nucleotide variant not provided [RCV002140861] Chr1:22081702 [GRCh38]
Chr1:22408195 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.106-15T>A single nucleotide variant not provided [RCV002140041] Chr1:22081707 [GRCh38]
Chr1:22408200 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.357C>T (p.Leu119=) single nucleotide variant not provided [RCV002138885] Chr1:22086737 [GRCh38]
Chr1:22413230 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.529C>T (p.Leu177=) single nucleotide variant Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [RCV002500295]|not provided [RCV002140506] Chr1:22091470 [GRCh38]
Chr1:22417963 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.487-12A>T single nucleotide variant not provided [RCV002161416] Chr1:22091416 [GRCh38]
Chr1:22417909 [GRCh37]
Chr1:1p36.12		 likely benign
NC_000001.10:g.(?_19199339)_(24690861_?)dup duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] Chr1:19199339..24690861 [GRCh37]
Chr1:1p36.13-36.11		 uncertain significance
NM_001791.4(CDC42):c.105+229C>G single nucleotide variant not provided [RCV002262219] Chr1:22078812 [GRCh38]
Chr1:22405305 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.105+126T>A single nucleotide variant not provided [RCV002262218] Chr1:22078709 [GRCh38]
Chr1:22405202 [GRCh37]
Chr1:1p36.12		 benign
NM_001791.4(CDC42):c.487-1486G>T single nucleotide variant not provided [RCV002464766] Chr1:22089942 [GRCh38]
Chr1:22416435 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.184G>C (p.Glu62Gln) single nucleotide variant not provided [RCV002462755] Chr1:22086444 [GRCh38]
Chr1:22412937 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.573A>G (p.Leu191=) single nucleotide variant not provided [RCV003097567] Chr1:22091514 [GRCh38]
Chr1:22418007 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.566T>C (p.Val189Ala) single nucleotide variant not provided [RCV002727082] Chr1:22091507 [GRCh38]
Chr1:22418000 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.261A>G (p.Pro87=) single nucleotide variant not provided [RCV002970831] Chr1:22086521 [GRCh38]
Chr1:22413014 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.468G>A (p.Glu156=) single nucleotide variant not provided [RCV002754963] Chr1:22086848 [GRCh38]
Chr1:22413341 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.288+8G>C single nucleotide variant not provided [RCV003002890] Chr1:22086556 [GRCh38]
Chr1:22413049 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.222A>G (p.Gln74=) single nucleotide variant not provided [RCV002622992] Chr1:22086482 [GRCh38]
Chr1:22412975 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.51A>G (p.Thr17=) single nucleotide variant not provided [RCV003039498] Chr1:22078529 [GRCh38]
Chr1:22405022 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.306T>G (p.Thr102=) single nucleotide variant not provided [RCV002823883] Chr1:22086686 [GRCh38]
Chr1:22413179 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.487-1489G>A single nucleotide variant Inborn genetic diseases [RCV002783467] Chr1:22089939 [GRCh38]
Chr1:22416432 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.369C>T (p.Pro123=) single nucleotide variant not provided [RCV002886228] Chr1:22086749 [GRCh38]
Chr1:22413242 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.486+8T>A single nucleotide variant not provided [RCV003058066] Chr1:22086874 [GRCh38]
Chr1:22413367 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.327T>A (p.Pro109=) single nucleotide variant not provided [RCV002700484] Chr1:22086707 [GRCh38]
Chr1:22413200 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.105+7A>G single nucleotide variant not provided [RCV002790560] Chr1:22078590 [GRCh38]
Chr1:22405083 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.289-19T>C single nucleotide variant not provided [RCV002594818] Chr1:22086650 [GRCh38]
Chr1:22413143 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.537T>A (p.Pro179=) single nucleotide variant not provided [RCV002598170] Chr1:22091478 [GRCh38]
Chr1:22417971 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.300G>A (p.Glu100=) single nucleotide variant not provided [RCV002720576] Chr1:22086680 [GRCh38]
Chr1:22413173 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.409A>G (p.Ile137Val) single nucleotide variant not provided [RCV002770457] Chr1:22086789 [GRCh38]
Chr1:22413282 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.102G>A (p.Pro34=) single nucleotide variant not provided [RCV002942708] Chr1:22078580 [GRCh38]
Chr1:22405073 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.288+17C>T single nucleotide variant not provided [RCV003050176] Chr1:22086565 [GRCh38]
Chr1:22413058 [GRCh37]
Chr1:1p36.12		 likely benign
NM_001791.4(CDC42):c.348A>G (p.Gln116=) single nucleotide variant not provided [RCV002583028] Chr1:22086728 [GRCh38]
Chr1:22413221 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_001791.4(CDC42):c.556C>T (p.Arg186Cys) single nucleotide variant not provided [RCV002613172] Chr1:22091497 [GRCh38]
Chr1:22417990 [GRCh37]
Chr1:1p36.12		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR195hsa-miR-195-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22802111
MIR29Chsa-miR-29c-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19079265
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19079265
MIR29Chsa-miR-29c-3pMirecordsexternal_infoNANA19079265
MIR608hsa-miR-608Mirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//WFunctional MTI21149267
MIR330hsa-miR-330-3pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//WFunctional MTI21149267
MIR330hsa-miR-330-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23337504
MIR330hsa-miR-330-5pOncomiRDBexternal_infoNANA23337504
MIR216Ahsa-miR-216a-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//WFunctional MTI21149267
MIR137hsa-miR-137Mirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20473940
MIR137hsa-miR-137OncomiRDBexternal_infoNANA23178712
MIR137hsa-miR-137OncomiRDBexternal_infoNANA20473940

Predicted Target Of
Summary Value
Count of predictions:1751
Count of miRNA genes:738
Interacting mature miRNAs:819
Transcripts:ENST00000315554, ENST00000344548, ENST00000400259, ENST00000411827, ENST00000421089, ENST00000498236
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
A009S40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,415,171 - 22,415,289UniSTSGRCh37
Build 36122,287,758 - 22,287,876RGDNCBI36
Celera120,738,124 - 20,738,242RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,658,946 - 20,659,064UniSTS
GeneMap99-GB4 RH Map177.56UniSTS
SHGC-57553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,390,591 - 22,390,680UniSTSGRCh37
Build 36122,263,178 - 22,263,267RGDNCBI36
Celera120,713,545 - 20,713,634RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,634,376 - 20,634,465UniSTS
TNG Radiation Hybrid Map19659.0UniSTS
G34846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,416,626 - 22,416,774UniSTSGRCh37
Build 36122,289,213 - 22,289,361RGDNCBI36
Celera120,739,579 - 20,739,727RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,660,401 - 20,660,549UniSTS
G15855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,418,312 - 22,418,525UniSTSGRCh37
Build 36122,290,899 - 22,291,112RGDNCBI36
Celera120,741,265 - 20,741,478RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,662,088 - 20,662,301UniSTS
WI-18965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,416,614 - 22,416,893UniSTSGRCh37
Build 36122,289,201 - 22,289,480RGDNCBI36
Celera120,739,567 - 20,739,846RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,660,389 - 20,660,668UniSTS
GeneMap99-GB4 RH Map177.56UniSTS
Whitehead-RH Map172.4UniSTS
UniSTS:224478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,416,606 - 22,416,764UniSTSGRCh37
Build 36122,289,193 - 22,289,351RGDNCBI36
Celera120,739,559 - 20,739,717RGD
HuRef120,660,381 - 20,660,539UniSTS
CDC42_1530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37755,945,899 - 55,947,030UniSTSGRCh37
GRCh37122,418,049 - 22,418,924UniSTSGRCh37
Build 36122,290,636 - 22,291,511RGDNCBI36
Celera766,999,682 - 67,000,813UniSTS
Celera120,741,002 - 20,741,877RGD
HuRef120,661,824 - 20,662,700UniSTS
HuRef755,760,580 - 55,761,711UniSTS
CRA_TCAGchr7v2755,950,146 - 55,951,277UniSTS
G22163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,419,120 - 22,419,338UniSTSGRCh37
Build 36122,291,707 - 22,291,925RGDNCBI36
Celera120,742,073 - 20,742,291RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,662,896 - 20,663,114UniSTS
RH69132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,416,606 - 22,416,814UniSTSGRCh37
Build 36122,289,193 - 22,289,401RGDNCBI36
Celera120,739,559 - 20,739,767RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,660,381 - 20,660,589UniSTS
GeneMap99-GB4 RH Map177.56UniSTS
SHGC-74349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,417,019 - 22,417,202UniSTSGRCh37
Build 36122,289,606 - 22,289,789RGDNCBI36
Celera120,739,972 - 20,740,155RGD
Cytogenetic Map1p36.1UniSTS
HuRef120,660,794 - 20,660,977UniSTS
TNG Radiation Hybrid Map19676.0UniSTS
GeneMap99-GB4 RH Map177.56UniSTS
Whitehead-RH Map172.3UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
G32824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,415,171 - 22,415,289UniSTSGRCh37
Celera120,738,124 - 20,738,242UniSTS
Cytogenetic Map1p36.1UniSTS
HuRef120,658,946 - 20,659,064UniSTS
GDB:636131  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.1UniSTS
SHGC-12429  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.1UniSTS
Whitehead-YAC Contig Map20 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 23
Medium 2438 2932 1704 602 1578 443 4357 2154 3706 401 1406 1610 175 1 1204 2788 6 2
Low 1 58 17 17 373 17 40 28 17 31 3
Below cutoff 1 5 5 5 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_044472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF498962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX888060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY673602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM684474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP871988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS026525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ596760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000315554   ⟹   ENSP00000314458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,709 - 22,090,807 (+)Ensembl
RefSeq Acc Id: ENST00000344548   ⟹   ENSP00000341072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,627 - 22,092,946 (+)Ensembl
RefSeq Acc Id: ENST00000400259   ⟹   ENSP00000383118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,627 - 22,092,923 (+)Ensembl
RefSeq Acc Id: ENST00000411827   ⟹   ENSP00000398327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,661 - 22,092,943 (+)Ensembl
RefSeq Acc Id: ENST00000498236   ⟹   ENSP00000496911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,707 - 22,090,010 (+)Ensembl
RefSeq Acc Id: ENST00000648594   ⟹   ENSP00000497733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,025,511 - 22,101,360 (+)Ensembl
RefSeq Acc Id: ENST00000651171   ⟹   ENSP00000499132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,710 - 22,086,725 (+)Ensembl
RefSeq Acc Id: ENST00000652582   ⟹   ENSP00000498275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,712 - 22,086,715 (+)Ensembl
RefSeq Acc Id: ENST00000656825   ⟹   ENSP00000499457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,709 - 22,101,360 (+)Ensembl
RefSeq Acc Id: ENST00000662562   ⟹   ENSP00000499612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,053,486 - 22,092,917 (+)Ensembl
RefSeq Acc Id: ENST00000667384   ⟹   ENSP00000499473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,651 - 22,092,273 (+)Ensembl
RefSeq Acc Id: ENST00000695796   ⟹   ENSP00000512176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,865 - 22,092,942 (+)Ensembl
RefSeq Acc Id: ENST00000695797   ⟹   ENSP00000512177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,053,023 - 22,092,942 (+)Ensembl
RefSeq Acc Id: ENST00000695798   ⟹   ENSP00000512178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,055,030 - 22,092,942 (+)Ensembl
RefSeq Acc Id: ENST00000695799   ⟹   ENSP00000512179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,062,125 - 22,092,942 (+)Ensembl
RefSeq Acc Id: ENST00000695800   ⟹   ENSP00000512180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,065,321 - 22,092,942 (+)Ensembl
RefSeq Acc Id: ENST00000695801   ⟹   ENSP00000512181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,072,455 - 22,092,942 (+)Ensembl
RefSeq Acc Id: ENST00000695802   ⟹   ENSP00000512182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,076,334 - 22,092,942 (+)Ensembl
RefSeq Acc Id: ENST00000695857   ⟹   ENSP00000512222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,671 - 22,091,559 (+)Ensembl
RefSeq Acc Id: ENST00000695858   ⟹   ENSP00000512223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,671 - 22,092,946 (+)Ensembl
RefSeq Acc Id: ENST00000695859   ⟹   ENSP00000512224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,679 - 22,092,273 (+)Ensembl
RefSeq Acc Id: ENST00000695860   ⟹   ENSP00000512225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,052,760 - 22,091,559 (+)Ensembl
RefSeq Acc Id: ENST00000695861   ⟹   ENSP00000512226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,077,804 - 22,091,559 (+)Ensembl
RefSeq Acc Id: ENST00000695862   ⟹   ENSP00000512227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,078,438 - 22,092,917 (+)Ensembl
RefSeq Acc Id: ENST00000695863   ⟹   ENSP00000512228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,078,470 - 22,087,263 (+)Ensembl
RefSeq Acc Id: NM_001039802   ⟹   NP_001034891
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,709 - 22,101,360 (+)NCBI
GRCh37122,379,120 - 22,419,439 (+)NCBI
Build 36122,251,707 - 22,292,023 (+)NCBI Archive
HuRef120,622,960 - 20,663,212 (+)ENTREZGENE
CHM1_1122,491,651 - 22,531,931 (+)NCBI
T2T-CHM13v2.0121,876,517 - 21,925,101 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001791   ⟹   NP_001782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,709 - 22,101,360 (+)NCBI
GRCh37122,379,120 - 22,419,439 (+)NCBI
Build 36122,251,707 - 22,292,023 (+)NCBI Archive
HuRef120,622,960 - 20,663,212 (+)ENTREZGENE
CHM1_1122,491,651 - 22,531,931 (+)NCBI
T2T-CHM13v2.0121,876,517 - 21,925,101 (+)NCBI
Sequence:
RefSeq Acc Id: NM_044472   ⟹   NP_426359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,709 - 22,090,807 (+)NCBI
GRCh37122,379,120 - 22,419,439 (+)NCBI
Build 36122,251,707 - 22,289,883 (+)NCBI Archive
HuRef120,622,960 - 20,663,212 (+)ENTREZGENE
CHM1_1122,491,651 - 22,529,791 (+)NCBI
T2T-CHM13v2.0121,876,517 - 21,914,555 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001034891 (Get FASTA)   NCBI Sequence Viewer  
  NP_001782 (Get FASTA)   NCBI Sequence Viewer  
  NP_426359 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52494 (Get FASTA)   NCBI Sequence Viewer  
  AAA52592 (Get FASTA)   NCBI Sequence Viewer  
  AAH02711 (Get FASTA)   NCBI Sequence Viewer  
  AAH03682 (Get FASTA)   NCBI Sequence Viewer  
  AAH18266 (Get FASTA)   NCBI Sequence Viewer  
  AAM21109 (Get FASTA)   NCBI Sequence Viewer  
  AAM21110 (Get FASTA)   NCBI Sequence Viewer  
  AAT70721 (Get FASTA)   NCBI Sequence Viewer  
  BAG59887 (Get FASTA)   NCBI Sequence Viewer  
  BAG64911 (Get FASTA)   NCBI Sequence Viewer  
  BAH14820 (Get FASTA)   NCBI Sequence Viewer  
  CAB57325 (Get FASTA)   NCBI Sequence Viewer  
  CAB57326 (Get FASTA)   NCBI Sequence Viewer  
  CAB57327 (Get FASTA)   NCBI Sequence Viewer  
  CAB57328 (Get FASTA)   NCBI Sequence Viewer  
  CAE93985 (Get FASTA)   NCBI Sequence Viewer  
  CAI61729 (Get FASTA)   NCBI Sequence Viewer  
  EAW95002 (Get FASTA)   NCBI Sequence Viewer  
  EAW95003 (Get FASTA)   NCBI Sequence Viewer  
  EAW95004 (Get FASTA)   NCBI Sequence Viewer  
  EAW95005 (Get FASTA)   NCBI Sequence Viewer  
  EAW95006 (Get FASTA)   NCBI Sequence Viewer  
  EAW95007 (Get FASTA)   NCBI Sequence Viewer  
  EAW95008 (Get FASTA)   NCBI Sequence Viewer  
  EAW95009 (Get FASTA)   NCBI Sequence Viewer  
  P60953 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001034891   ⟸   NM_001039802
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UDI2 (UniProtKB/Swiss-Prot),   P60953 (UniProtKB/Swiss-Prot),   A0A024RAE4 (UniProtKB/TrEMBL),   A0A024RAA5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001782   ⟸   NM_001791
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UDI2 (UniProtKB/Swiss-Prot),   P60953 (UniProtKB/Swiss-Prot),   A0A024RAE4 (UniProtKB/TrEMBL),   A0A024RAA5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_426359   ⟸   NM_044472
- Peptide Label: isoform 2
- UniProtKB: P60953 (UniProtKB/Swiss-Prot),   A0A024RAE6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497733   ⟸   ENST00000648594
RefSeq Acc Id: ENSP00000398327   ⟸   ENST00000411827
RefSeq Acc Id: ENSP00000499612   ⟸   ENST00000662562
RefSeq Acc Id: ENSP00000383118   ⟸   ENST00000400259
RefSeq Acc Id: ENSP00000499132   ⟸   ENST00000651171
RefSeq Acc Id: ENSP00000498275   ⟸   ENST00000652582
RefSeq Acc Id: ENSP00000499473   ⟸   ENST00000667384
RefSeq Acc Id: ENSP00000496911   ⟸   ENST00000498236
RefSeq Acc Id: ENSP00000499457   ⟸   ENST00000656825
RefSeq Acc Id: ENSP00000314458   ⟸   ENST00000315554
RefSeq Acc Id: ENSP00000341072   ⟸   ENST00000344548
RefSeq Acc Id: ENSP00000512225   ⟸   ENST00000695860
RefSeq Acc Id: ENSP00000512176   ⟸   ENST00000695796
RefSeq Acc Id: ENSP00000512228   ⟸   ENST00000695863
RefSeq Acc Id: ENSP00000512178   ⟸   ENST00000695798
RefSeq Acc Id: ENSP00000512227   ⟸   ENST00000695862
RefSeq Acc Id: ENSP00000512224   ⟸   ENST00000695859
RefSeq Acc Id: ENSP00000512222   ⟸   ENST00000695857
RefSeq Acc Id: ENSP00000512181   ⟸   ENST00000695801
RefSeq Acc Id: ENSP00000512226   ⟸   ENST00000695861
RefSeq Acc Id: ENSP00000512223   ⟸   ENST00000695858
RefSeq Acc Id: ENSP00000512179   ⟸   ENST00000695799
RefSeq Acc Id: ENSP00000512177   ⟸   ENST00000695797
RefSeq Acc Id: ENSP00000512180   ⟸   ENST00000695800
RefSeq Acc Id: ENSP00000512182   ⟸   ENST00000695802

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60953-F1-model_v2 AlphaFold P60953 1-191 view protein structure

Promoters
RGD ID:6854434
Promoter ID:EPDNEW_H382
Type:initiation region
Name:CDC42_1
Description:cell division cycle 42
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,052,709 - 22,052,769EPDNEW
RGD ID:6784899
Promoter ID:HG_KWN:1255
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344548,   NM_001791,   OTTHUMT00000008075,   OTTHUMT00000008076,   UC009VQG.1,   UC009VQH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36122,251,534 - 22,252,034 (+)MPROMDB
RGD ID:6784897
Promoter ID:HG_KWN:1256
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000008077
Position:
Human AssemblyChrPosition (strand)Source
Build 36122,251,651 - 22,252,677 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1736 AgrOrtholog
COSMIC CDC42 COSMIC
Ensembl Genes ENSG00000070831 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000314458 ENTREZGENE
  ENSP00000314458.8 UniProtKB/Swiss-Prot
  ENSP00000341072 ENTREZGENE
  ENSP00000341072.3 UniProtKB/Swiss-Prot
  ENSP00000383118.1 UniProtKB/Swiss-Prot
  ENSP00000398327.1 UniProtKB/TrEMBL
  ENSP00000398327.2 UniProtKB/Swiss-Prot
  ENSP00000496911.1 UniProtKB/TrEMBL
  ENSP00000498275.1 UniProtKB/TrEMBL
  ENSP00000499132.1 UniProtKB/TrEMBL
  ENSP00000499457 ENTREZGENE
  ENSP00000499457.1 UniProtKB/Swiss-Prot
  ENSP00000499473.1 UniProtKB/TrEMBL
  ENSP00000499612.1 UniProtKB/Swiss-Prot
  ENSP00000512176.1 UniProtKB/Swiss-Prot
  ENSP00000512177.1 UniProtKB/Swiss-Prot
  ENSP00000512178.1 UniProtKB/Swiss-Prot
  ENSP00000512179.1 UniProtKB/Swiss-Prot
  ENSP00000512180.1 UniProtKB/Swiss-Prot
  ENSP00000512181.1 UniProtKB/TrEMBL
  ENSP00000512182.1 UniProtKB/Swiss-Prot
  ENSP00000512222.1 UniProtKB/Swiss-Prot
  ENSP00000512223.1 UniProtKB/TrEMBL
  ENSP00000512224.1 UniProtKB/TrEMBL
  ENSP00000512225.1 UniProtKB/Swiss-Prot
  ENSP00000512226.1 UniProtKB/TrEMBL
  ENSP00000512227.1 UniProtKB/TrEMBL
  ENSP00000512228.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000315554 ENTREZGENE
  ENST00000315554.15 UniProtKB/Swiss-Prot
  ENST00000344548 ENTREZGENE
  ENST00000344548.8 UniProtKB/Swiss-Prot
  ENST00000400259.5 UniProtKB/Swiss-Prot
  ENST00000411827.1 UniProtKB/TrEMBL
  ENST00000411827.2 UniProtKB/Swiss-Prot
  ENST00000498236.1 UniProtKB/TrEMBL
  ENST00000651171.1 UniProtKB/TrEMBL
  ENST00000652582.1 UniProtKB/TrEMBL
  ENST00000656825 ENTREZGENE
  ENST00000656825.1 UniProtKB/Swiss-Prot
  ENST00000662562.2 UniProtKB/Swiss-Prot
  ENST00000667384.2 UniProtKB/TrEMBL
  ENST00000695796.1 UniProtKB/Swiss-Prot
  ENST00000695797.1 UniProtKB/Swiss-Prot
  ENST00000695798.1 UniProtKB/Swiss-Prot
  ENST00000695799.1 UniProtKB/Swiss-Prot
  ENST00000695800.1 UniProtKB/Swiss-Prot
  ENST00000695801.1 UniProtKB/TrEMBL
  ENST00000695802.1 UniProtKB/Swiss-Prot
  ENST00000695857.1 UniProtKB/Swiss-Prot
  ENST00000695858.1 UniProtKB/TrEMBL
  ENST00000695859.1 UniProtKB/TrEMBL
  ENST00000695860.1 UniProtKB/Swiss-Prot
  ENST00000695861.1 UniProtKB/TrEMBL
  ENST00000695862.1 UniProtKB/TrEMBL
  ENST00000695863.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000070831 GTEx
HGNC ID HGNC:1736 ENTREZGENE
Human Proteome Map CDC42 Human Proteome Map
InterPro Cdc42 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase_Rho UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 998 ENTREZGENE
OMIM 116952 OMIM
PANTHER CDC42 HOMOLOG UniProtKB/TrEMBL
  CELL DIVISION CONTROL PROTEIN 42 HOMOLOG UniProtKB/Swiss-Prot
  CELL DIVISION CONTROL PROTEIN 42 HOMOLOG UniProtKB/TrEMBL
  CELL DIVISION CONTROL PROTEIN 42 HOMOLOG UniProtKB/TrEMBL
  CELL DIVISION CONTROL PROTEIN 42 HOMOLOG UniProtKB/TrEMBL
  PTHR24072 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26266 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAB UniProtKB/TrEMBL
  RAS UniProtKB/TrEMBL
  RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAA5 ENTREZGENE, UniProtKB/TrEMBL
  A0A024RAE4 ENTREZGENE
  A0A024RAE6 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IRV0_HUMAN UniProtKB/TrEMBL
  A0A494BZX6_HUMAN UniProtKB/TrEMBL
  A0A494C1M1_HUMAN UniProtKB/TrEMBL
  A0A590UJK8_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI43_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKT2_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLC5_HUMAN UniProtKB/TrEMBL
  CDC42_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5JYX0_HUMAN UniProtKB/TrEMBL
  Q9UDI2 ENTREZGENE
UniProt Secondary P21181 UniProtKB/Swiss-Prot
  P25763 UniProtKB/Swiss-Prot
  Q7L8R5 UniProtKB/Swiss-Prot
  Q9UDI2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-01-22 CDC42  cell division cycle 42  CDC42  cell division cycle 42 (GTP binding protein, 25kDa)  Symbol and/or name change 5135510 APPROVED