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CHN1 chimerin 1 [ Homo sapiens (human) ]

Gene ID: 1123, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (174798809..175005381, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (175287561..175494136, complement)
105.20220307 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
  • 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. CHN1 promotes epithelial-mesenchymal transition via the Akt/GSK-3β/Snail pathway in cervical carcinoma. Zhao H, et al. J Transl Med, 2021 Jul 8. PMID 34238315, Free PMC Article
  2. Bioinformatics-based analysis of the association between the A1-chimaerin (CHN1) gene and gastric cancer. Li JP, et al. Bioengineered, 2021 Dec. PMID 34152250, Free PMC Article
  3. CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease. Angelini C, et al. Eur J Med Genet, 2021 Apr. PMID 33667650
  4. Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome. Zhou TC, et al. Sci Rep, 2020 Oct 1. PMID 33004823, Free PMC Article
  5. The involvement of iron in chemerin induced cell cycle arrest in human hepatic carcinoma SMMC7721 cells. Sun P, et al. Metallomics, 2018 Jun 20. PMID 29872820

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. this study shows that serum chemerin is an independent risk factor of prognosis of non-small cell lung cancer patients
    Title: Prognostic significance of serum chemerin levels in patients with non-small cell lung cancer.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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