CHN1 - chimerin 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1123

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHN1 Protein Structure

SH2

C1_1

RhoGAP

0
100
200
300
400
459 a.a.

Protein Preferred Names	Protein Names
N-chimaerin	A-chimaerin

CHN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHN1	P15882	HEMK1	Homo sapiens	Q9Y5R4	Validated Y2H	32296183
Intra	CHN1	P15882	HEMK1	Homo sapiens	Q9Y5R4	Y2H Array	31515488
Intra	CHN1	P15882	HEMK1	Homo sapiens	Q9Y5R4	Y2H Prey Pooling	25416956
Intra	CHN1	P15882	ANKK1	Homo sapiens	Q8NFD2	Validated Y2H	32296183
Intra	CHN1	P15882	NCK2	Homo sapiens	O43639	Y2H Bait-Prey Pool	25910212
Intra	CHN1	P15882	NCK2	Homo sapiens	O43639	Validated Y2H	25910212
Intra	CHN1	P15882	NCK2	Homo sapiens	O43639	Y2H Array	25910212
Intra	CHN1	P15882	NCK2	Homo sapiens	O43639	Y2H Prey Pooling	32296183
Intra	CHN1	P15882	NCK2	Homo sapiens	O43639	Y2H Array	32296183
Intra	CHN1	P15882	NCK2	Homo sapiens	O43639	Y2H Array	25416956
Intra	CHN1	P15882	MAPK1	Homo sapiens	P28482	Y2H Array	32296183
Intra	CHN1	P15882	MAPK1	Homo sapiens	P28482	Y2H Prey Pooling	32296183
Intra	CHN1	P15882	MAPK1	Homo sapiens	P28482	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CHN1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75673	CHN1 Protein, Human (sf9)	P15882 (A2-F459)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P75674	CHN1 Protein, Human (sf9, His-GST)	P15882 (A2-F459)	≥ 90%, as determined by reducing SDS-PAGE.

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02649	CHN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20259	Chn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26767	Chn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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