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 descri... See more...

Aliases for CHN1 Gene

Aliases for CHN1 Gene

  • Chimerin 1 2 3 5
  • N-Chimerin 2 3 4
  • ARHGAP2 2 3 4
  • Rho GTPase-Activating Protein 2 3 4
  • Chimerin (Chimaerin) 1 2 3
  • Alpha-Chimerin 3 4
  • Chimaerin 1 2 3
  • N-Chimaerin 3 4
  • A-Chimaerin 3 4
  • CHN 3 4
  • NC 3 4
  • Chimerin 1 (GTPase-Activating Protein, Rho, 2) 2
  • Duane Retraction Syndrome 2 2
  • A2-Chimaerin 3
  • RHOGAP2 3
  • RhoGAP2 2
  • DURS2 3
  • CHN1 5

External Ids for CHN1 Gene

Previous HGNC Symbols for CHN1 Gene

  • CHN
  • DURS2

Previous GeneCards Identifiers for CHN1 Gene

  • GC02M173716
  • GC02M174325
  • GC02M175628
  • GC02M175866
  • GC02M175489
  • GC02M175372
  • GC02M175664
  • GC02M167544

Summaries for CHN1 Gene

Entrez Gene Summary for CHN1 Gene

  • 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]

GeneCards Summary for CHN1 Gene

CHN1 (Chimerin 1) is a Protein Coding gene. Diseases associated with CHN1 include Duane Retraction Syndrome 2 and Duane Retraction Syndrome. Among its related pathways are Signaling by GPCR and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and ephrin receptor binding. An important paralog of this gene is CHN2.

UniProtKB/Swiss-Prot Summary for CHN1 Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHN1 Gene

Genomics for CHN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J175003 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 614.5 +0.7 659 3 RNF2 ZNF512 RFX1 LARP7 ZIC2 RBFOX2 POLR2A RXRB PATZ1 CTCF CHN1 lnc-CHRNA1-5-002 lnc-SCRN3-9 KR153241-008 CHRNA1
GH02J174843 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 613.5 +159.4 159416 4.6 SP1 JUND CEBPB NFE2 ZNF316 JUN FOS FOSL2 POLR2A ZNF335 CHN1 CHRNA1 lnc-CHRNA1-5-001 lnc-CHRNA1-2
GH02J175093 Promoter 0.3 EPDnew 600.2 -87.7 -87698 0.1 ENSG00000277948 RF00017-3371 lnc-CHN1-6 CHN1 MIR933 ENSG00000229750 ATF2 RNU6-763P
GH02J175180 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 14 -175.9 -175919 2.6 SP1 CREB1 GATAD2A HNRNPL PRDM10 ZNF629 ZNF512 LEF1 IKZF1 NFKBIZ lnc-ATF2-1 lnc-SCRN3-10 piR-59456 ATF2 ATP5MC3 HOXD9 HOXD4 CHN1 OLA1 CIR1
GH02J174394 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.9 +609.8 609832 3.1 CREB1 GATAD2A ZNF629 TFE3 RFX1 LEF1 IKZF1 NFKBIZ POLR2A ZNF7 SCRN3 CIR1 L13304-021 lnc-GPR155-2 CHN1 OLA1 GPR155 lnc-GPR155-3 SP9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHN1

Top Transcription factor binding sites by QIAGEN in the CHN1 gene promoter:
  • AML1a
  • c-Myb
  • CUTL1
  • Hlf
  • NF-AT
  • NF-AT1
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU6F1 (c2)

Genomic Locations for CHN1 Gene

Genomic Locations for CHN1 Gene
chr2:174,798,809-175,005,381
(GRCh38/hg38)
Size:
206,573 bases
Orientation:
Minus strand
chr2:175,664,042-175,870,107
(GRCh37/hg19)
Size:
206,066 bases
Orientation:
Minus strand

Genomic View for CHN1 Gene

Genes around CHN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHN1 Gene

Proteins for CHN1 Gene

  • Protein details for CHN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15882-CHIN_HUMAN
    Recommended name:
    N-chimaerin
    Protein Accession:
    P15882
    Secondary Accessions:
    • A8K1M6
    • B3KNU6
    • B4DV19
    • Q53SD6
    • Q53SH5
    • Q96FB0

    Protein attributes for CHN1 Gene

    Size:
    459 amino acids
    Molecular mass:
    53172 Da
    Quaternary structure:
    • Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation.
    SequenceCaution:
    • Sequence=CAA35769.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHN1 Gene

    Alternative splice isoforms for CHN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHN1 Gene

Post-translational modifications for CHN1 Gene

  • Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CHN1 Gene

Domains & Families for CHN1 Gene

Gene Families for CHN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CHN1 Gene

InterPro:
Blocks:
  • SH2 domain signature
  • RhoGAP domain
  • Protein kinase C, phorbol ester/diacylglycerol binding
ProtoNet:

Suggested Antigen Peptide Sequences for CHN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58170, highly similar to N-chimaerin (B4DV19_HUMAN)
  • Rho GTPase-activating protein 2 (CHIN_HUMAN)
  • CHN1 protein (Q6IBE0_HUMAN)
genes like me logo Genes that share domains with CHN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CHN1 Gene

Function for CHN1 Gene

Molecular function for CHN1 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
n-chimerin,brain GTPase activating protein for the ras-related p21rac,with two alternatively spliced isoforms,alpha 1,alpha 2,45kDa,expressed in cerebellum

Phenotypes From GWAS Catalog for CHN1 Gene

Gene Ontology (GO) - Molecular Function for CHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS --
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IPI 21516116
GO:0046872 metal ion binding IEA --
GO:0046875 ephrin receptor binding IBA 21873635
genes like me logo Genes that share ontologies with CHN1: view
genes like me logo Genes that share phenotypes with CHN1: view

Human Phenotype Ontology for CHN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHN1 Gene

MGI Knock Outs for CHN1:
  • Chn1 Chn1<tm1.1Abet>
  • Chn1 Chn1<tm1.1Ito>
  • Chn1 Chn1<tm1.2Ece>
  • Chn1 Chn1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for CHN1 Gene

miRTarBase miRNAs that target CHN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHN1

Clone Products

  • Addgene plasmids for CHN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHN1 Gene

Localization for CHN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHN1 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CHN1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CHN1 Gene

Pathways & Interactions for CHN1 Gene

PathCards logo

SuperPathways for CHN1 Gene

SuperPathway Contained pathways
1 G12-G13 in Cellular Signaling
-
2 Actin Nucleation by ARP-WASP Complex
.35
3 RhoGDI Pathway
.33
4 p75 NTR receptor-mediated signalling
5 Signaling by GPCR
genes like me logo Genes that share pathways with CHN1: view

Pathways by source for CHN1 Gene

1 BioSystems pathway for CHN1 Gene
3 Qiagen pathways for CHN1 Gene
  • G12-G13 in Cellular Signaling
  • RhoA Pathway
  • RhoGDI Pathway

SIGNOR curated interactions for CHN1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for CHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development IEA --
GO:0008045 motor neuron axon guidance ISS --
GO:0009967 positive regulation of signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with CHN1: view

Drugs & Compounds for CHN1 Gene

(3) Drugs for CHN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for CHN1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with CHN1: view

Transcripts for CHN1 Gene

mRNA/cDNA for CHN1 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
42 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHN1

Clone Products

  • Addgene plasmids for CHN1

Alternative Splicing Database (ASD) splice patterns (SP) for CHN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4: - -
SP5: - - - - -
SP6: - -
SP7: - - - - - -
SP8: - - -
SP9: - - - - - - -
SP10: -
SP11: - - - - - -
SP12:
SP13:
SP14: - - - - - - - - - - -

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for CHN1 Gene

GeneLoc Exon Structure for
CHN1

Expression for CHN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHN1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.8), Brain - Anterior cingulate cortex (BA24) (x7.6), Brain - Cortex (x6.8), Brain - Hippocampus (x5.0), Brain - Amygdala (x4.4), and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for CHN1 Gene

This gene is overexpressed in Heart (35.7) and Plasma (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHN1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHN1

SOURCE GeneReport for Unigene cluster for CHN1 Gene:

Hs.380138

mRNA Expression by UniProt/SwissProt for CHN1 Gene:

P15882-CHIN_HUMAN
Tissue specificity: In neurons in brain regions that are involved in learning and memory processes.

Evidence on tissue expression from TISSUES for CHN1 Gene

  • Nervous system(5)
  • Eye(4.4)
  • Intestine(4.4)
  • Kidney(3.7)
  • Skin(2.3)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHN1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • nose
  • skull
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with CHN1: view

No data available for Protein tissue co-expression partners for CHN1 Gene

Orthologs for CHN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CHN1 31
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CHN1 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CHN1 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CHN1 30 31
  • 94.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Chn1 30 17 31
  • 92.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chn3 30
  • 89.59 (n)
Dog
(Canis familiaris)
Mammalia CHN1 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CHN1 30 31
  • 86.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CHN1 31
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia chn1-prov 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.3519 30
Zebrafish
(Danio rerio)
Actinopterygii CHN1 31
  • 84 (a)
OneToOne
chn1 30
  • 74.36 (n)
wufj59f02 30
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGAP5A 30 31 32
  • 51.4 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003026 30
  • 50 (n)
Worm
(Caenorhabditis elegans)
Secernentea BE0003N10.2 32
  • 46 (a)
chin-1 31
  • 39 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGA2 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for CHN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CHN1 Gene

ENSEMBL:
Gene Tree for CHN1 (if available)
TreeFam:
Gene Tree for CHN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHN1: view image

Paralogs for CHN1 Gene

Paralogs for CHN1 Gene

(29) SIMAP similar genes for CHN1 Gene using alignment to 11 proteins:

  • CHIN_HUMAN
  • B8ZZ96_HUMAN
  • C9J1N1_HUMAN
  • C9J3G1_HUMAN
  • C9J3V9_HUMAN
  • C9JR98_HUMAN
  • F8W6K2_HUMAN
  • F8WAY4_HUMAN
  • F8WCQ9_HUMAN
  • L0R6E9_HUMAN
  • Q6IBE0_HUMAN

Pseudogenes.org Pseudogenes for CHN1 Gene

genes like me logo Genes that share paralogs with CHN1: view

Variants for CHN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHN1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
709072 Conflicting Interpretations: Duane retraction syndrome 2; not provided 174,846,919(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
715563 Benign: not provided 174,944,936(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
722100 Conflicting Interpretations: Duane retraction syndrome 2; not provided 174,877,954(-) G/A SYNONYMOUS_VARIANT
722706 Likely Benign: not provided 174,800,197(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
724251 Likely Benign: not provided 174,915,087(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CHN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHN1 Gene

Variant ID Type Subtype PubMed ID
esv2664753 CNV deletion 23128226
esv2760629 CNV loss 21179565
esv3422580 CNV insertion 20981092
esv3575313 CNV gain 25503493
esv3593415 CNV loss 21293372
esv3593416 CNV loss 21293372
nsv821797 CNV loss 20364138

Variation tolerance for CHN1 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHN1 Gene

Human Gene Mutation Database (HGMD)
CHN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHN1 Gene

Disorders for CHN1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for CHN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
duane retraction syndrome 2
  • durs2
duane retraction syndrome
  • drs
amblyopia
accommodative esotropia
  • esotropia with accommodative compensation
laryngomalacia
  • congenital laryngeal stridor
- elite association - COSMIC cancer census association via MalaCards
Search CHN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHIN_HUMAN
  • Duane retraction syndrome 2 (DURS2) [MIM:604356]: A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. {ECO:0000269 PubMed:18653847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CHN1: view

No data available for Genatlas for CHN1 Gene

Publications for CHN1 Gene

  1. Novel human brain cDNA encoding a 34,000 Mr protein n-chimaerin, related to both the regulatory domain of protein kinase C and BCR, the product of the breakpoint cluster region gene. (PMID: 2299665) Hall C … Lim L (Journal of molecular biology 1990) 2 3 4 23
  2. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. (PMID: 18653847) Miyake N … Engle EC (Science (New York, N.Y.) 2008) 2 3 4
  3. Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. (PMID: 8336731) Hall C … Jones TA (Molecular and cellular biology 1993) 3 4 23
  4. Developmental regulation and neuronal expression of the mRNA of rat n-chimaerin, a p21rac GAP:cDNA sequence. (PMID: 1445199) Lim HH … Hall C (The Biochemical journal 1992) 3 4 23
  5. Human brain n-chimaerin cDNA encodes a novel phorbol ester receptor. (PMID: 2268301) Ahmed S … Lim L (The Biochemical journal 1990) 3 4 23

Products for CHN1 Gene

Sources for CHN1 Gene