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Aliases for CHN1 Gene

Aliases for CHN1 Gene

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

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 1. Among its related pathways are G12-G13 in Cellular Signaling and Actin Nucleation by ARP-WASP Complex. 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 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHN1 Gene

Genomics for CHN1 Gene

Regulatory Elements for CHN1 Gene

Enhancers for CHN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F175027 1.1 Ensembl ENCODE 36.7 -22.9 -22920 1.6 SOX13 ELF3 DRAP1 ZNF792 SAP130 ARID4B CEBPG DMAP1 ZNF644 RARA CHN1 GC02P175030 GC02P175023
GH02F175036 0.8 Ensembl 25.9 -31.1 -31123 1.0 DMAP1 RAD21 RARA MIXL1 THAP11 ZNF654 PPARG NR2F2 KAT8 CREB3 CHN1 ATF2 ENSG00000229750 MIR933 WIPF1 RPL21P31 GC02M175073
GH02F174967 0.5 Ensembl ENCODE 25.3 +34.1 34103 7.5 RFX1 JUN BHLHE40 REST OSR2 JUND POLR2A ZNF692 SMARCA4 PRDM10 CHN1 CHRNA1 RNU6-763P GC02P174978
GH02F174965 1.1 FANTOM5 Ensembl ENCODE 24.9 +39.1 39105 1.9 ZNF202 SCRT1 ZNF316 SCRT2 NFE2 ZBTB40 NFE2L2 CHN1 RNU6-763P GC02P174978 CHRNA1
GH02F174902 0.2 ENCODE 23.1 +102.7 102688 1.2 SOX13 RFX1 CEBPB MAFG ZNF664 ZNF316 NFE2L1 NFE2 MAFK EMSY CHN1 GC02P174978 CHRNA1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CHN1 on UCSC Golden Path with GeneCards custom track

Promoters for CHN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000124561 379 2001 ARID4B SIN3A FEZF1 ZNF48 ZNF2 GLIS2 ZNF263 MXD4 REST SREBF1

Genomic Location for CHN1 Gene

Chromosome:
2
Start:
174,799,314 bp from pter
End:
175,005,379 bp from pter
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=Translation N-terminally extended.; 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

Antibody Products

No data available for DME Specific Peptides for CHN1 Gene

Domains & Families for CHN1 Gene

Suggested Antigen Peptide Sequences for CHN1 Gene

Graphical View of Domain Structure for InterPro Entry

P15882

UniProtKB/Swiss-Prot:

CHIN_HUMAN :
  • Contains 1 Rho-GAP domain.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • Contains 1 Rho-GAP domain.
  • Contains 1 SH2 domain.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with CHN1: view

Function for CHN1 Gene

Molecular function for CHN1 Gene

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
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.

Gene Ontology (GO) - Molecular Function for CHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 8336731
GO:0005096 GTPase activator activity IEA,TAS --
GO:0005515 protein binding IPI 21516116
GO:0046872 metal ion binding IEA --
GO:0046875 ephrin receptor binding IEA --
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:

Animal Model Products

miRNA for CHN1 Gene

miRTarBase miRNAs that target CHN1

Flow Cytometry Products

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

Localization for CHN1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHN1 Gene COMPARTMENTS Subcellular localization image for CHN1 gene
Compartment Confidence
cytosol 5
nucleus 3
peroxisome 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
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

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

Pathways by source for CHN1 Gene

1 BioSystems pathway for CHN1 Gene

SIGNOR curated interactions for CHN1 Gene

Activates:

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: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with CHN1: view

Transcripts for CHN1 Gene

Unigene Clusters for CHN1 Gene

Chimerin 1:
Representative Sequences:

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
CHN1

Expression for CHN1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for CHN1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CHN1 Gene:

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.
genes like me logo Genes that share expression patterns with CHN1: view

Primer Products

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 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHN1 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHN1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHN1 34 35
  • 94.05 (n)
mouse
(Mus musculus)
Mammalia Chn1 34 16 35
  • 92.16 (n)
rat
(Rattus norvegicus)
Mammalia Chn3 34
  • 89.59 (n)
dog
(Canis familiaris)
Mammalia CHN1 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHN1 34 35
  • 86.2 (n)
lizard
(Anolis carolinensis)
Reptilia CHN1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3519 34
African clawed frog
(Xenopus laevis)
Amphibia chn1-prov 34
zebrafish
(Danio rerio)
Actinopterygii CHN1 35
  • 84 (a)
OneToOne
chn1 34
  • 74.36 (n)
wufj59f02 34
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP5A 36 34 35
  • 51.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003026 34
  • 50 (n)
worm
(Caenorhabditis elegans)
Secernentea BE0003N10.2 36
  • 46 (a)
chin-1 35
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGA2 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for CHN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CHN1 Gene

Variants for CHN1 Gene

Sequence variations from dbSNP and Humsavar for CHN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121912792 Duane retraction syndrome 2 (DURS2) [MIM:604356], Pathogenic 174,944,942(-) ACAGT(A/G/T)TATCA nc-transcript-variant, reference, synonymous-codon, missense
rs121912793 Duane retraction syndrome 2 (DURS2) [MIM:604356], Pathogenic 174,878,011(-) TATAT(G/T)GAAAC intron-variant, reference, missense
rs121912794 Duane retraction syndrome 2 (DURS2) [MIM:604356], Pathogenic 174,877,962(-) CAATT(C/T)ATGAG intron-variant, reference, missense
rs121912795 Duane retraction syndrome 2 (DURS2) [MIM:604356], Pathogenic 174,824,478(-) CTGTG(C/T)CAACT nc-transcript-variant, reference, missense
rs121912796 Duane retraction syndrome 2 (DURS2) [MIM:604356], Pathogenic 174,824,464(-) TGTGG(A/G)GTCTC nc-transcript-variant, reference, missense

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)

Relevant External Links for CHN1 Gene

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

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

Disorders for CHN1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for CHN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
duane retraction syndrome 2
  • durs2
duane retraction syndrome 1
  • duane retraction syndrome
amblyopia
ocular motility disease
  • disorder of eye movements
hypertropia
- 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.

Relevant External Links for CHN1

Genetic Association Database (GAD)
CHN1
Human Genome Epidemiology (HuGE) Navigator
CHN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHN1
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. (J. Mol. Biol. 1990) 2 3 4 22 64
  2. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. (PMID: 18653847) Miyake N. … Engle E.C. (Science 2008) 2 3 4 64
  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. … Lim L. (Mol. Cell. Biol. 1993) 3 4 22 64
  4. Developmental regulation and neuronal expression of the mRNA of rat n-chimaerin, a p21rac GAP:cDNA sequence. (PMID: 1445199) Lim H.H. … Hall C. (Biochem. J. 1992) 3 4 22 64
  5. Human brain n-chimaerin cDNA encodes a novel phorbol ester receptor. (PMID: 2268301) Ahmed S. … Lim L. (Biochem. J. 1990) 3 4 22 64

Products for CHN1 Gene

Sources for CHN1 Gene

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