CHN1 (chimerin 1)

2004-03-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
ARHGAP2,CHN,DURS2,NC,RHOGAP2
FUSION GENES

Other Information

Locus ID:

NCBI: 1123
MIM: 118423
HGNC: 1943
Ensembl: ENSG00000128656

Variants:

dbSNP: 1123
ClinVar: 1123
TCGA: ENSG00000128656
COSMIC: CHN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128656ENST00000295497P15882
ENSG00000128656ENST00000409089F8W6K2
ENSG00000128656ENST00000409156P15882
ENSG00000128656ENST00000409597B8ZZ96
ENSG00000128656ENST00000409900P15882
ENSG00000128656ENST00000413882C9J3V9
ENSG00000128656ENST00000425395F8WAY4
ENSG00000128656ENST00000443238C9JR98
ENSG00000128656ENST00000444394C9J3G1
ENSG00000128656ENST00000444573C9J1N1
ENSG00000128656ENST00000451799F8WCQ9
ENSG00000128656ENST00000469597A0A494C072
ENSG00000128656ENST00000481174A0A494C158
ENSG00000128656ENST00000490654A0A494BZY1
ENSG00000128656ENST00000650731A0A494C1R0
ENSG00000128656ENST00000650734A0A494C0V1
ENSG00000128656ENST00000650770A0A494C1D3
ENSG00000128656ENST00000650938A0A494C047
ENSG00000128656ENST00000651246A0A494C0C9
ENSG00000128656ENST00000651315A0A494C0R6
ENSG00000128656ENST00000651373A0A494C1Q9
ENSG00000128656ENST00000651501F8WAY4
ENSG00000128656ENST00000651580A0A494C0I4
ENSG00000128656ENST00000651599A0A494C0I4
ENSG00000128656ENST00000651717A0A494C1P5
ENSG00000128656ENST00000651803A0A494C1D3
ENSG00000128656ENST00000651971A0A494C1H3
ENSG00000128656ENST00000652036A0A494C1M7
ENSG00000128656ENST00000652208F8WCQ9
ENSG00000128656ENST00000652434A0A494C0I5
ENSG00000128656ENST00000652674A0A494C0L5
ENSG00000128656ENST00000652756F8WCQ9

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
186538472008Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.56
171975332007Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.40
204680712010Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.17
188269462008Identification of an autoinhibitory mechanism that restricts C1 domain-mediated activation of the Rac-GAP alpha2-chimaerin.15
182490952008Role of chimaerins, a group of Rac-specific GTPase activating proteins, in T-cell receptor signaling.14
281605562017Prognostic significance of serum chemerin levels in patients with non-small cell lung cancer.14
171975322007Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.13
195412632009Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.8
200340952010CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.7

Citation

Dessen P

CHN1 (chimerin 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-03-01

Online version: http://atlasgeneticsoncology.org/gene/40078/chn1