Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1123
Gene name	Chimerin 1
Gene symbol	CHN1
Synonyms (NCBI Gene)	ARHGAP2CHNDURS2NCRHOGAP2
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

Show/Hide all (11)

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

Show/Hide all (79)

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

Show/Hide all (20)

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

MIM	HGNC	e!Ensembl
118423	1943	ENSG00000128656

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

Interactions

View interactions

	Reactome
			Rho GTPase cycle

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant Robinow syndrome 2	Pathogenic	rs1684730153	RCV001290089
Duane retraction syndrome 2	Pathogenic	rs121912792, rs121912793, rs121912794, rs121912795, rs121912796, rs121912797, rs121912798, rs387906599, rs1553475005	RCV000019105 RCV000019106 RCV000019107 RCV000019108 RCV000019109 RCV000019110 RCV000019111 RCV000022463 RCV000677620
Oromandibular-limb hypogenesis spectrum	Likely pathogenic	rs2468987994	RCV003236922

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CHN1-related disorder	Uncertain significance; Benign; Likely benign	rs375782530, rs13398834, rs200043744	RCV003406077 RCV003950589 RCV003903127
Duane retraction syndrome	Uncertain significance; Likely benign	rs574270883, rs375494218, rs886055152, rs547068631, rs66480716	RCV000259681 RCV000294976 RCV000309225 RCV000344841 RCV000272957
Duane syndrome type 1	not provided	rs552090021	RCV000709802

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Lymphatic Metastasis	Associate	33109127
Lymphoma	Associate	33883344
Lymphoma B Cell	Associate	33883344
Neoplasms	Associate	32859265
Neurologic Manifestations	Associate	21715346
Nystagmus Pathologic	Associate	19541263
Paroxysmal Tonic Upgaze Benign Childhood With Ataxia	Associate	19541263
Precancerous Conditions	Associate	34152250
Retinal Dysplasia	Associate	27072986
Stomach Neoplasms	Stimulate	34152250
Strabismus	Associate	21715346
Trochlear Nerve Diseases	Associate	21715346
Uterine Cervical Neoplasms	Associate	33109127

CHN1 (chimerin 1)