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    CHN1 chimerin 1 [ Homo sapiens (human) ]

    Gene ID: 1123, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CHN1provided by HGNC
    Official Full Name
    chimerin 1provided by HGNC
    Primary source
    HGNC:HGNC:1943
    See related
    Ensembl:ENSG00000128656 MIM:118423; AllianceGenome:HGNC:1943
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NC; CHN; DURS2; ARHGAP2; RHOGAP2
    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]
    Expression
    Biased expression in brain (RPKM 113.6), placenta (RPKM 8.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See CHN1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (174798809..175005381, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (175287561..175494136, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (175663537..175870109, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12130 Neighboring gene Sharpr-MPRA regulatory region 14969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175629201-175629700 Neighboring gene cholinergic receptor nicotinic alpha 1 subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175646775-175647382 Neighboring gene uncharacterized LOC124907908 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175652041-175652856 Neighboring gene Sharpr-MPRA regulatory region 431 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175660322-175661184 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175661185-175662046 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175679928-175680086 Neighboring gene Sharpr-MPRA regulatory region 13906 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:175778728-175779927 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:175788643-175789389 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:175789465-175790079 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175790080-175790693 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:175828782-175829617 Neighboring gene MPRA-validated peak3936 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:175831556-175832392 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:175869279-175869825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12131 Neighboring gene RNA, U6 small nuclear 1290, pseudogene Neighboring gene RNA, U6 small nuclear 763, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. alpha2-chimaerin, a Cdc42/Rac1 regulator, is selectively expressed in the rat embryonic nervous system and is involved in neuritogenesis in N1E-115 neuroblastoma cells. Hall C, et al. J Neurosci, 2001 Jul 15. PMID 11438594, Free PMC Article
    2. Alpha1-chimaerin, a Rac1 GTPase-activating protein, is expressed at reduced mRNA levels in the brain of Alzheimer's disease patients. Kato T, et al. Neurosci Lett, 2015 Mar 30. PMID 25676811, Free PMC Article
    3. Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI. Hwang JM, et al. Graefes Arch Clin Exp Ophthalmol, 2015 Mar. PMID 25331612
    4. Expansion of the CHN1 strabismus phenotype. Miyake N, et al. Invest Ophthalmol Vis Sci, 2011 Aug 11. PMID 21715346, Free PMC Article
    5. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Chan WM, et al. Arch Ophthalmol, 2011 May. PMID 21555619, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.
      Title: Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.
    2. Bioinformatics-based analysis of the association between the A1-chimaerin (CHN1) gene and gastric cancer.
      Title: Bioinformatics-based analysis of the association between the A1-chimaerin (CHN1) gene and gastric cancer.
    3. CHN1 promotes epithelial-mesenchymal transition via the Akt/GSK-3beta/Snail pathway in cervical carcinoma.
      Title: CHN1 promotes epithelial-mesenchymal transition via the Akt/GSK-3β/Snail pathway in cervical carcinoma.
    4. CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
      Title: CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
    5. Upregulation of miR-205 induces CHN1 expression, which is associated with the aggressive behaviour of cervical cancer cells and correlated with lymph node metastasis.
      Title: Upregulation of miR-205 induces CHN1 expression, which is associated with the aggressive behaviour of cervical cancer cells and correlated with lymph node metastasis.
    6. Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
      Title: Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
    7. The results suggest that chemerin plays an important role in inhibiting the cell proliferation of hepatocellular carcinomas by interfering with cellular iron homeostasis in this type of tumors.
      Title: The involvement of iron in chemerin induced cell cycle arrest in human hepatic carcinoma SMMC7721 cells.
    8. CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities.
      Title: CHN1 gene mutation analysis in patients with Duane retraction syndrome.
    9. CHN1 and TNFAIP3 are candidate biomarkers for esophageal squamous cell carcinomas
      Title: The Discovery and Validation of Biomarkers for the Diagnosis of Esophageal Squamous Dysplasia and Squamous Cell Carcinoma.
    10. These findings reveal a role for ephrin bidirectional signaling upstream of mutant alpha2-chimaerin in Duane retraction syndrome, which may contribute to the selective vulnerability of abducens motor neurons in this disorder
      Title: Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Duane retraction syndrome 2
    MedGen: C0751083 OMIM: 604356 GeneReviews: Duane Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein chimerin 1 (CHN1) in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    enables ephrin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ephrin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ephrin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in motor neuron axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in motor neuron axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    N-chimaerin
    Names
    A-chimaerin
    Rho GTPase-activating protein 2
    a2-chimaerin
    alpha-chimerin
    chimaerin 1
    chimerin (chimaerin) 1
    n-chimerin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012642.2 RefSeqGene

      Range
      5062..211634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001025201.4 → NP_001020372.2  N-chimaerin isoform 2

      See identical proteins and their annotated locations for NP_001020372.2

      Status: REVIEWED

      Source sequence(s)
      AC007435, AC018890, AC020596
      Consensus CDS
      CCDS46454.1
      UniProtKB/TrEMBL
      A0A2X0SFY7
      Related
      ENSP00000386470.3, ENST00000409156.7
      Conserved Domains (3) summary
      cd10352
      Location:42 → 128
      SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
      cd04372
      Location:240 → 433
      RhoGAP_chimaerin; RhoGAP_chimaerin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two ...
      pfam00130
      Location:183 → 232
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    2. NM_001206602.2 → NP_001193531.1  N-chimaerin isoform 3

      See identical proteins and their annotated locations for NP_001193531.1

      Status: REVIEWED

      Source sequence(s)
      AC018890
      Consensus CDS
      CCDS56147.1
      UniProtKB/TrEMBL
      A0A494C1M7
      Related
      ENSP00000295497.7, ENST00000295497.13
      Conserved Domains (2) summary
      cd04372
      Location:141 → 334
      RhoGAP_chimaerin; RhoGAP_chimaerin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two ...
      pfam00130
      Location:81 → 133
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    3. NM_001371513.1 → NP_001358442.1  N-chimaerin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC007435, AC018890, AC020596
      Consensus CDS
      CCDS46455.1
      UniProtKB/Swiss-Prot
      A8K1M6, B3KNU6, B4DV19, P15882, Q53SD6, Q53SH5, Q96FB0
      UniProtKB/TrEMBL
      A0A2X0SFY7
      Conserved Domains (3) summary
      cd10352
      Location:42 → 128
      SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
      cd04372
      Location:266 → 459
      RhoGAP_chimaerin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two alternative splice forms ...
      pfam00130
      Location:206 → 255
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    4. NM_001371514.1 → NP_001358443.1  N-chimaerin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC007435, AC018890, AC020596
      UniProtKB/TrEMBL
      A0A2X0SFY7
      Conserved Domains (3) summary
      cd04372
      Location:283 → 476
      RhoGAP_chimaerin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two alternative splice forms ...
      pfam00130
      Location:223 → 272
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl15255
      Location:67 → 145
      SH2; Src homology 2 (SH2) domain

    5. NM_001822.7 → NP_001813.1  N-chimaerin isoform 1

      See identical proteins and their annotated locations for NP_001813.1

      Status: REVIEWED

      Source sequence(s)
      AC007435, AC018890, AC020596
      Consensus CDS
      CCDS46455.1
      UniProtKB/Swiss-Prot
      A8K1M6, B3KNU6, B4DV19, P15882, Q53SD6, Q53SH5, Q96FB0
      UniProtKB/TrEMBL
      A0A2X0SFY7
      Related
      ENSP00000386741.4, ENST00000409900.9
      Conserved Domains (3) summary
      cd10352
      Location:42 → 128
      SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
      cd04372
      Location:266 → 459
      RhoGAP_chimaerin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two alternative splice forms ...
      pfam00130
      Location:206 → 255
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    RNA

    1. NR_038133.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007435, AC018890, AC020596
      Related
      ENST00000651501.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      174798809..175005381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      175287561..175494136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15882.3 GenPept UniProtKB/Swiss-Prot:P15882

    Gene LinkOut

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