CHN1 - chimerin 1 Gene

Homo sapiens

Also known as NC; CHN; DURS2; ARHGAP2; RHOGAP2

Gene ID: 1123 | Gene type: protein coding

About CHN1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:174,798,809-175,005,381 (from NCBI)

This gene has 42 transcripts (splice variants), 171 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 113.6), placenta (RPKM 8.8) and 1 other tissue.

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 Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

CHN1 Products(5)

mRNA	Protein	Name
NM_001025201.4	NP_001020372.2	N-chimaerin isoform 2
NM_001206602.2	NP_001193531.1	N-chimaerin isoform 3
NM_001371513.1	NP_001358442.1	N-chimaerin isoform 1
NM_001371514.1	NP_001358443.1	N-chimaerin isoform 4
NM_001822.7	NP_001813.1	N-chimaerin isoform 1

CHN1 Protein Structure

SH2

C1_1

RhoGAP

0
100
200
300
400
459 a.a.

Protein Preferred Names

Protein Names

N-chimaerin

A-chimaerin

Recombinant CHN1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75673	CHN1 Protein, Human (sf9)	P15882 (A2-F459)	≥95%
HY-P75674	CHN1 Protein, Human (sf9, His-GST)	P15882 (A2-F459)	≥95%

Related Diseases

Diseases

Alias

Duane Retraction Syndrome 2

DURS2

Duane Retraction Syndrome, Type 2

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Robinow Syndrome, Autosomal Dominant 2

Autosomal Dominant Robinow Syndrome 2	DRS2
Robinow, Autosomal Dominant Syndrome, Type 2

Diaphragm Disease

Abnormality Of The Diaphragm	Disease Of Diaphragm
Diaphragmatic Disorder	Disorder Of Diaphragm

Duane Retraction Syndrome 1

Duane Syndrome	Duane Retraction Syndrome
Drs	Duane Anomaly
Stilling-Turk-Duane Syndrome	DURS1
Dus	Retraction Syndrome
Duane Anomaly, Isolated	Type 1 Duane Retraction Syndrome

Diaphragmatic Eventration

Laryngomalacia

Congenital Laryngomalacia	Congenital Laryngeal Stridor
Laryngomalacia Congenital	Floppy Epiglottis

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Dandy-Walker Syndrome

Dandy-Walker Malformation	DWS
Atresia Of Foramina Of Magendie And Luschka	Dandy-Walker Complex
Dandy-Walker Cyst	Dandy-Walker Deformity
Dandy Walker Cyst	Dw Complex
Dandy-Walker Syndrome Or Malformation	Dandy-Walker Variant
Mega Cisterna Magna	Dwm
Hydrocephalus, Internal, Dandy-Walker Type	Hydrocephalus, Noncommunicating, Dandy-Walker Type
Luschka-Magendie Foramina Atresia	Isolated Dandy-Walker Malformation
Mega-Cisterna Magna	Dandy Walker Variant
Atresia Of Foramen Of Luschka	Atresia Of Foramen Of Magendie
Congenital Blockage Of Foramen Magendie

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Night Blindness

Nyctalopia

Amblyopia

Lazy Eye

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Robinow Syndrome, Autosomal Dominant 3

Autosomal Dominant Robinow Syndrome 3	DRS3
Robinow, Autosomal Dominant Syndrome, Type 3

Hypotropia

Accommodative Esotropia

Esotropia With Accommodative Compensation

Paralytic Squint

Paralytic Strabismus

Incomitant Dissociation

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Hypertropia

Partial Third-Nerve Palsy

Partial Third Nerve Palsy	Third Nerve Palsy With Pupil Sparing
Third Or Oculomotor Nerve Palsy, Partial	Oculomotor Nerve Diseases
Oculomotor Nerve Paralysis

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Abducens Palsy

Sixth Nerve Palsy	Abducens Nerve Palsy
Abducens Nerve Disease	Abducens Nerve Weakness
Lateral Rectus Muscle Denervation Paresis	Lateral Rectus Muscle Innervation Disorder
Sixth Cranial Nerve Disorder	6th Nerve Palsy
Abducens Nerve Diseases	Vith Nerve Disorder
Vith Nerve Paralysis	Cranial Mononeuropathy Vi
Cranial Nerve Vi Palsy	Sixth Cranial Nerve Palsy
Vi Nerve Palsy	Abducens Nerve Disorder
Abducens Sixth Nerve Palsy	Abducens Nerve Paralysis
Disease Or Disorder Of Abducent Nerve	Sixth Cranial Nerve Disease
Sixth Cranial Nerve Weakness	Disorder Of Sixth Cranial Nerve
Isolated Abducent Nerve Palsy	Atrophy Of Sixth Cranial Nerve
Paralysis Of Sixth Cranial Nerve

Duane-Radial Ray Syndrome

Okihiro Syndrome	DRRS
Dr Syndrome	Duane Anomaly With Radial Ray Abnormalities And Deafness
Acrorenoocular Syndrome	Acrorenocular Syndrome
Duane Anomaly With Radial Abnormalities And Deafness	Acro-Renal-Ocular Syndrome

Abnormal Retinal Correspondence

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Exotropia

Divergent Concomitant Strabismus	Divergent Strabismus
Divergent Squint	External Strabismus
Xt - [Exotropia]

Refractive Amblyopia

Ametropic Amblyopia

Strabismic Amblyopia

Suppression Amblyopia	Amblyopia
Amblyopia, Suppression

Nonaka Myopathy

Gne Myopathy	Hibm
Distal Myopathy With Rimmed Vacuoles	Hereditary Inclusion Body Myopathy
Ibm2	Inclusion Body Myopathy, Quadriceps-Sparing
Qsm	Dmrv
Distal Myopathy, Nonaka Type	Inclusion Body Myopathy 2
Inclusion Body Myopathy, Autosomal Recessive	NM
Nonaka Distal Myopathy	Myopathy, Distal, With Or Without Rimmed Vacuoles
Inclusion Body Myopathy, Hereditary, Autosomal Recessive	Inclusion Body Myopathy Type 2
Quadriceps-Sparing Myopathy	Quadriceps Sparing Myopathy
Rimmed Vacuole Myopathy	Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
Ibm2, Formerly	Hibm2
Hereditary Inclusion Body Myopathy Type 2	Inclusion Body Myopathy 2, Autosomal Recessive
Myopathy, Distal, With Rimmed Vacuoles	Inclusion Body Myopathy Autosomal Recessive
Myopathy, Inclusion Body, Type 2	Myopathy, Nonaka

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

Refractive Error

Refractive Errors

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02649	CHN1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CHN1	VGNC	VGNC:56135
Bos taurus	CHN1	VGNC	VGNC:27307
Macaca mulatta	CHN1	VGNC	VGNC:71041
Mus musculus	CHN1	MGD	MGI:1915674
Felis catus	CHN1	VGNC	VGNC:107509
Rattus norvegicus	CHN1	RGD	RGD:620139
Others	CHN1	NCBI