CHN1 (chimerin 1)

Gene

• Entrez ID: 1123
• Gene name: Chimerin 1
• Gene symbol: CHN1
• Synonyms (NCBI Gene): ARHGAP2, CHN, DURS2, NC, RHOGAP2
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: 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 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
rs121912797	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912798	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906599	G>A	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs387906600	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1553475005	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558939623	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

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
MIRT890925	hsa-miR-4768-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT2200276	hsa-miR-376c	CLIP-seq
MIRT2503134	hsa-miR-1202	CLIP-seq
MIRT2503135	hsa-miR-1287	CLIP-seq
MIRT2503136	hsa-miR-1912	CLIP-seq
MIRT2503137	hsa-miR-224	CLIP-seq
MIRT2503138	hsa-miR-2467-3p	CLIP-seq
MIRT2503139	hsa-miR-3130-5p	CLIP-seq
MIRT2503140	hsa-miR-3135b	CLIP-seq
MIRT2503141	hsa-miR-3170	CLIP-seq
MIRT2503142	hsa-miR-3182	CLIP-seq
MIRT2503143	hsa-miR-3664-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT2503144	hsa-miR-3686	CLIP-seq
MIRT2200276	hsa-miR-376c	CLIP-seq
MIRT890922	hsa-miR-3921	CLIP-seq
MIRT2503145	hsa-miR-3972	CLIP-seq
MIRT2503146	hsa-miR-4278	CLIP-seq
MIRT2503147	hsa-miR-4438	CLIP-seq
MIRT2503148	hsa-miR-4453	CLIP-seq
MIRT2503149	hsa-miR-4464	CLIP-seq
MIRT2503150	hsa-miR-4482	CLIP-seq
MIRT2503151	hsa-miR-4489	CLIP-seq
MIRT2503152	hsa-miR-4538	CLIP-seq
MIRT890923	hsa-miR-4539	CLIP-seq
MIRT890924	hsa-miR-4653-5p	CLIP-seq
MIRT2503153	hsa-miR-4659a-3p	CLIP-seq
MIRT2503154	hsa-miR-4659b-3p	CLIP-seq
MIRT2503155	hsa-miR-4714-5p	CLIP-seq
MIRT2503156	hsa-miR-4716-3p	CLIP-seq
MIRT2503157	hsa-miR-4742-3p	CLIP-seq
MIRT2503158	hsa-miR-4746-3p	CLIP-seq
MIRT2503159	hsa-miR-4748	CLIP-seq
MIRT890925	hsa-miR-4768-5p	CLIP-seq
MIRT2503160	hsa-miR-494	CLIP-seq
MIRT2503161	hsa-miR-502-5p	CLIP-seq
MIRT2503162	hsa-miR-550b	CLIP-seq
MIRT2503163	hsa-miR-657	CLIP-seq
MIRT2503160	hsa-miR-494	CLIP-seq
MIRT2503134	hsa-miR-1202	CLIP-seq
MIRT2503135	hsa-miR-1287	CLIP-seq
MIRT2503136	hsa-miR-1912	CLIP-seq
MIRT2503137	hsa-miR-224	CLIP-seq
MIRT2503138	hsa-miR-2467-3p	CLIP-seq
MIRT2503139	hsa-miR-3130-5p	CLIP-seq
MIRT2503140	hsa-miR-3135b	CLIP-seq
MIRT2503141	hsa-miR-3170	CLIP-seq
MIRT2503142	hsa-miR-3182	CLIP-seq
MIRT2503143	hsa-miR-3664-5p	CLIP-seq
MIRT1964120	hsa-miR-3675-5p	CLIP-seq
MIRT2503144	hsa-miR-3686	CLIP-seq
MIRT2200276	hsa-miR-376c	CLIP-seq
MIRT2503145	hsa-miR-3972	CLIP-seq
MIRT2503146	hsa-miR-4278	CLIP-seq
MIRT2503147	hsa-miR-4438	CLIP-seq
MIRT2503148	hsa-miR-4453	CLIP-seq
MIRT2503149	hsa-miR-4464	CLIP-seq
MIRT2503150	hsa-miR-4482	CLIP-seq
MIRT2503151	hsa-miR-4489	CLIP-seq
MIRT2503152	hsa-miR-4538	CLIP-seq
MIRT2503153	hsa-miR-4659a-3p	CLIP-seq
MIRT2503154	hsa-miR-4659b-3p	CLIP-seq
MIRT2503155	hsa-miR-4714-5p	CLIP-seq
MIRT2503156	hsa-miR-4716-3p	CLIP-seq
MIRT2503157	hsa-miR-4742-3p	CLIP-seq
MIRT2503158	hsa-miR-4746-3p	CLIP-seq
MIRT2503159	hsa-miR-4748	CLIP-seq
MIRT890925	hsa-miR-4768-5p	CLIP-seq
MIRT2503160	hsa-miR-494	CLIP-seq
MIRT2503161	hsa-miR-502-5p	CLIP-seq
MIRT2503162	hsa-miR-550b	CLIP-seq
MIRT2503163	hsa-miR-657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 25910212, 31515488, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008045	Process	Motor neuron axon guidance	IBA
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008045	Process	Motor neuron axon guidance	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046875	Function	Ephrin receptor binding	IBA
GO:0046875	Function	Ephrin receptor binding	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	ISS
GO:0050770	Process	Regulation of axonogenesis	IEA
GO:0050770	Process	Regulation of axonogenesis	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 118423
• HGNC: 1943
• e!Ensembl: 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:

  MALTLFDTDEYRPPVWKSYLYQLQQEAPHPRRITCTCEVENRPKYYGREFHGMISREAAD
  QLLIVAEGSYLIRESQRQPGTYTLALRFGSQTRNFRLYYDGKHFVGEKRFESIHDLVTDG
  LITLYIETKAAEYIAKMTINPIYEHVGYTTLNREPAYKKHMPVLKETHDERDSTGQDGVS
  EKRLTSLVRRATLKENEQIPKYEKIHNFKVHTFRGPHWCEYCANFMWGLIAQGVKCADCG
  LNVHKQCSKMVPNDCKPDLKHVKKVYSCDLTTLVKAHTTKRPMVVDMCIREIESRGLNSE
  GLYRVSGFSDLIEDVKMAFDRDGEKADISVNMYEDINIITGALKLYFRDLPIPLITYDAY
  PKFIESAKIMDPDEQLETLHEALKLLPPAHCETLRYLMAHLKRVTLHEKENLMNAENLGI
  VFGPTLMRSPELDAMAALNDIRYQRLVVELLIKNEDILF

• Sequence length: 459

Pathways

Reactome:

Rho GTPase cycle

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant Robinow syndrome 2	Pathogenic	rs1684730153	RCV001290089	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duane retraction syndrome 2	Pathogenic	rs121912792, rs121912793, rs121912794, rs121912795, rs121912796, rs121912797, rs121912798, rs387906599, rs1553475005	RCV000019105 RCV000019106 RCV000019107 RCV000019108 RCV000019109 RCV000019110 RCV000019111 RCV000022463 RCV000677620	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oromandibular-limb hypogenesis spectrum	Likely pathogenic	rs2468987994	RCV003236922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIAC ARREST	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHN1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Uncertain significance; Likely benign	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet CTD, ClinVar, Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DUANE RETRACTION SYNDROME, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane syndrome type 1	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOBIUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28165388		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10602519, 18587326		★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	36494820	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	32710738	Associate	★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	17197532, 17197533, 18055799, 18653847, 19541263, 20535495, 21555619, 21715346, 28346224, 29031989		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	17197532, 17197533, 18055799, 19541263, 21555619, 21715346, 33004823, 36494820	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane Retraction Syndrome	Duane Retraction Syndrome	LHGDN	17197533, 18653847		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane Retraction Syndrome	Duane Retraction Syndrome	ORPHANET_DG	18653847		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane retraction syndrome	Duane Retraction Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane Retraction Syndrome	Duane Retraction Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Duane Retraction Syndrome, Type 2	Duane syndrome	BEFREE	17197532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 2	Duane syndrome	UNIPROT_DG	18653847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 2	Duane syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 2	Duane syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 3	Duane syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27072986	Associate	★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	10410173, 10602520, 10895826, 11679947, 12378528, 15188455, 9781944		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32710738	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32710738	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21926414		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	23053518		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33109127	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28165388		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8756665		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	19541263	Associate	★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Okihiro Syndrome	Duane-radial ray syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34152250	Stimulate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	21715346		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	21715346	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Type 1 Duane Retraction Syndrome	Duane Retraction Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33109127	Associate	★☆☆☆☆ Found in Text Mining only