Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1123
Gene name Gene Name - the full gene name approved by the HGNC.
Chimerin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHN1
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGAP2, CHN, DURS2, NC, RHOGAP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DURS2, NC
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121912792 T>A,C Pathogenic Non coding transcript variant, coding sequence variant, missense variant, intron variant, synonymous variant, genic upstream transcript variant
rs121912793 A>C Pathogenic Intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912794 A>G Pathogenic Intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912795 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121912796 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049652 hsa-miR-92a-3p CLASH 23622248
MIRT036041 hsa-miR-1301-3p CLASH 23622248
MIRT890922 hsa-miR-3921 CLIP-seq
MIRT890923 hsa-miR-4539 CLIP-seq
MIRT890924 hsa-miR-4653-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005515 Function Protein binding IPI 21516116, 25416956, 25910212, 31515488, 32296183
GO:0005829 Component Cytosol TAS
GO:0008045 Process Motor neuron axon guidance ISS
GO:0035556 Process Intracellular signal transduction IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
118423 1943 ENSG00000128656
Protein
UniProt ID P15882
Protein name N-chimaerin (A-chimaerin) (Alpha-chimerin) (N-chimerin) (NC) (Rho GTPase-activating protein 2)
Protein function GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.
PDB 2OSA , 3CXL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 50 119 SH2 domain Domain
PF00130 C1_1 206 258 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00620 RhoGAP 282 435 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: In neurons in brain regions that are involved in learning and memory processes.
Sequence
Sequence length 459
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aniridia Aniridia rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979
View all (159 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Duane syndrome Duane Retraction Syndrome, Type 2, Duane Retraction Syndrome, Type 3 rs121912792, rs121912793, rs121912794, rs121912795, rs121912796, rs121912797, rs121912798, rs387906599 18653847
Unknown
Disease term Disease name Evidence References Source
Duane retraction syndrome Duane Retraction Syndrome, Type 1 Duane Retraction Syndrome, Duane retraction syndrome 18653847 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Duane Retraction Syndrome Duane retraction syndrome 2, Duane retraction syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 17197533
Adducted Thumbs Syndrome Associate 19541263
Congenital Cranial Dysinnervation Disorders Associate 17197533, 36494820
congenital fibrosis of the extraocular muscles Associate 36494820
Conotruncal cardiac defects Associate 32710738
Duane Retraction Syndrome Associate 17197532, 17197533, 18055799, 19541263, 21555619, 21715346, 33004823, 36494820
Esophageal Squamous Cell Carcinoma Associate 27072986
Fibrosis of Extraocular Muscles Congenital 3B Associate 29110737
Heart Defects Congenital Associate 32710738
Hypertension Associate 32710738