• Gene id: 1123

Gene Summary

• Gene Symbol: CHN1   Gene   UCSC   Ensembl
• Aliases: ARHGAP2, CHN, DURS2, NC, RHOGAP2
• Gene name: chimerin 1
• Alternate names: N-chimaerin, A-chimaerin, Rho GTPase-activating protein 2, a2-chimaerin, alpha-chimerin, chimaerin 1, chimerin (chimaerin) 1, n-chimerin,
• Gene location: 2q31.1 (175005380: 174798808)     Exons: 15     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 118423

Protein Summary

• Protein general information: P15882  
  • Name: N chimaerin (A chimaerin) (Alpha chimerin) (N chimerin) (NC) (Rho GTPase activating protein 2)
  • Length: 459  
  • Mass: 53172
  • Tissue specificity: In neurons in brain regions that are involved in learning and memory processes.
• Sequence:

  MALTLFDTDEYRPPVWKSYLYQLQQEAPHPRRITCTCEVENRPKYYGREFHGMISREAADQLLIVAEGSYLIRES
  QRQPGTYTLALRFGSQTRNFRLYYDGKHFVGEKRFESIHDLVTDGLITLYIETKAAEYIAKMTINPIYEHVGYTT
  LNREPAYKKHMPVLKETHDERDSTGQDGVSEKRLTSLVRRATLKENEQIPKYEKIHNFKVHTFRGPHWCEYCANF
  MWGLIAQGVKCADCGLNVHKQCSKMVPNDCKPDLKHVKKVYSCDLTTLVKAHTTKRPMVVDMCIREIESRGLNSE
  GLYRVSGFSDLIEDVKMAFDRDGEKADISVNMYEDINIITGALKLYFRDLPIPLITYDAYPKFIESAKIMDPDEQ
  LETLHEALKLLPPAHCETLRYLMAHLKRVTLHEKENLMNAENLGIVFGPTLMRSPELDAMAALNDIRYQRLVVEL
  LIKNEDILF

• Structural information:
  • Protein Domains: (49..13-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (268..45-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR035840  IPR017356  IPR020454  IPR002219  IPR008936   IPR037860  IPR000198  IPR000980  IPR036860  
  • Prosite: PS50238 PS50001 PS00479 PS50081
  • CDD: cd00029 cd04372 cd10352
  • PDB: 2OSA 3CXL
  • PDBsum: 2OSA 3CXL
  • DIP: 42177
  • STRING: ENSP00000386741
• Other Databases: GeneCards:  CHN1  Malacards:  CHN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046875	ephrin receptor binding	IBA	molecular function
GO:0048013	ephrin receptor signaling pathway	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0043087	regulation of GTPase activity	IBA	biological process
GO:0050770	regulation of axonogenesis	ISS	biological process
GO:0048013	ephrin receptor signaling pathway	ISS	biological process
GO:0008045	motor neuron axon guidance	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050770	regulation of axonogenesis	IEA	biological process
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0008045	motor neuron axon guidance	IEA	biological process

Diseases

Associated diseases	References
Duane retraction syndrome	KEGG:H00633
Duane retraction syndrome	KEGG:H00633
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray