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    CHN2 chimerin 2 [ Homo sapiens (human) ]

    Gene ID: 1124, updated on 27-Dec-2024

    Summary

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    Official Symbol
    CHN2provided by HGNC
    Official Full Name
    chimerin 2provided by HGNC
    Primary source
    HGNC:HGNC:1944
    See related
    Ensembl:ENSG00000106069 MIM:602857; AllianceGenome:HGNC:1944
    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
    BCH; CHN2-3; ARHGAP3; RHOGAP3
    Summary
    This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]
    Expression
    Broad expression in duodenum (RPKM 21.4), small intestine (RPKM 16.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHN2 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (29146591..29514328)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (29284405..29652211)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (29186207..29553944)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene carboxypeptidase vitellogenic like Neighboring gene CPVL antisense RNA 1 Neighboring gene uncharacterized LOC128966558 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:29165822-29167021 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:29178298-29179497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29235044-29235679 Neighboring gene CHN2 antisense RNA 1 Neighboring gene Nanog homeobox pseudogene 4 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:29327971-29328748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29343002-29343502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29343503-29344003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:29349448-29350016 Neighboring gene NANOG hESC enhancer GRCh37_chr7:29364906-29365431 Neighboring gene MPRA-validated peak6458 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29414107-29414613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29456231-29456732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29456733-29457232 Neighboring gene PRR15 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:29605074-29605937 Neighboring gene GTF3C6 pseudogene 3 Neighboring gene proline rich 15

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of human beta 2-chimaerin: association with malignant transformation in astrocytoma. Yuan S, et al. Cancer Res, 1995 Aug 1. PMID 7614486
    2. Beta2-chimaerin provides a diacylglycerol-dependent mechanism for regulation of adhesion and chemotaxis of T cells. Siliceo M, et al. J Cell Sci, 2006 Jan 1. PMID 16352660
    3. Regulation of vascular smooth muscle proliferation and migration by beta2-chimaerin, a non-protein kinase C phorbol ester receptor. Maeda M, et al. Int J Mol Med, 2006 Apr. PMID 16525710
    4. Tyrosine phosphorylation of beta2-chimaerin by Src-family kinase negatively regulates its Rac-specific GAP activity. Kai M, et al. Biochim Biophys Acta, 2007 Sep. PMID 17560670
    5. A missense polymorphism (H204R) of a Rho GTPase-activating protein, the chimerin 2 gene, is associated with schizophrenia in men. Hashimoto R, et al. Schizophr Res, 2005 Mar 1. PMID 15653288

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prenatal phthalate exposure and cord blood DNA methylation.
      Title: Prenatal phthalate exposure and cord blood DNA methylation.
    2. Chemerin regulates formation and function of brown adipose tissue: Ablation results in increased insulin resistance with high fat challenge and aging.
      Title: Chemerin regulates formation and function of brown adipose tissue: Ablation results in increased insulin resistance with high fat challenge and aging.
    3. The findings indicate that differential methylation at CpG sites upstream of the CHN2 and JAK2 TSS regions are possible peripheral predictors of antidepressant treatment response.
      Title: Integrated genome-wide methylation and expression analyses reveal functional predictors of response to antidepressants.
    4. our data redefine the role of beta2-chimaerin as tumor suppressor and provide the first in vivo evidence of a dual function in breast cancer, suppressing tumor initiation but favoring tumor progression.
      Title: A new role of the Rac-GAP β2-chimaerin in cell adhesion reveals opposite functions in breast cancer initiation and tumor progression.
    5. 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.
    6. CHN2 is consistently hypermethylated and downregulated in small bowel adenocarcinoma with diagnostic potential
      Title: Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility.
    7. CHN2, ABCB1 and PPP1R9A expression on chromosome 7 is implicated in the pathogenesis of hepatosplenic T-cell lymphoma distinguishing it from other malignancies.
      Title: Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma.
    8. genetic association studies in a population in Taiwan: Data suggest that an SNP in CHN2 (rs1002630) is associated with non-proliferative diabetic retinopathy in patients with diabetes type 2 in the Han Chinese population studied.
      Title: Chimerin 2 genetic polymorphisms are associated with non-proliferative diabetic retinopathy in Taiwanese type 2 diabetic patients.
    9. A significant association of the novel rs186911567 polymorphism was found for the CHN2 gene with smoking.
      Title: Association of a novel polymorphism of the β2-chimaerin gene (CHN2) with smoking.
    10. genetic association studies in a Chinese population with type 2 diabetes: An SNP in CHN2 (rs39059) is associated with diabetic retinopathy in a Chinese population of type 2 diabetic patients.
      Title: CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of atypical psychosis.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • MGC138360

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activator activity TAS
    Traceable Author Statement
    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 acrosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    beta-chimaerin
    Names
    beta-chimerin
    beta3-chimaerin
    chimerin (chimaerin) 2
    chimerin, beta-2
    chimerin, testis-specific
    rho-GTPase-activating protein 3

    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_029365.3 RefSeqGene

      Range
      53186..372739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039936.3 → NP_001035025.1  beta-chimaerin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AC007255
      Consensus CDS
      CCDS47566.1
      UniProtKB/TrEMBL
      B7Z701
      Related
      ENSP00000486515.1, ENST00000412711.7
      Conserved Domains (2) summary
      cd04372
      Location:139 → 332
      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:79 → 131
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    2. NM_001293070.2 → NP_001279999.1  beta-chimaerin isoform 4

      See identical proteins and their annotated locations for NP_001279999.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains multiple additional 5' coding exons, compared to variant 1. It represents use of an alternate promoter and initiates translation from an alternate start codon. The encoded isoform (4) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AC004417, AC004593, AC007255
      Consensus CDS
      CCDS94072.1
      UniProtKB/TrEMBL
      B7Z1V0, B8ZZU1, H7C0V3
      Related
      ENSP00000386968.2, ENST00000409350.6
      Conserved Domains (3) summary
      cd10352
      Location:65 → 151
      SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
      cd04372
      Location:288 → 481
      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 ...
      cd20857
      Location:223 → 283
      C1_betaCHN; protein kinase C conserved region 1 (C1 domain) found in beta-chimaerin and similar proteins

    3. NM_001293071.2 → NP_001280000.1  beta-chimaerin isoform 5

      See identical proteins and their annotated locations for NP_001280000.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as B2-CHNdel ex3) differs in the 5' UTR and and contains multiple additional 5' coding exons, compared to variant 1. It represents use of an alternate promoter and initiates translation from an alternate start codon. The encoded isoform (5) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AC004417, AC004593, AC007255
      UniProtKB/TrEMBL
      H7C0V3
      Conserved Domains (3) summary
      cd10352
      Location:17 → 103
      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:180 → 232
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    4. NM_001293072.2 → NP_001280001.1  beta-chimaerin isoform 6

      See identical proteins and their annotated locations for NP_001280001.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and contains multiple additional 5' coding exons, compared to variant 1. It represents use of an alternate promoter and initiates translation from an alternate start codon. The encoded isoform (6) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AC004417, AC004593, AC007255
      UniProtKB/TrEMBL
      B7Z1W9, H7C0V3
      Conserved Domains (3) summary
      cd10352
      Location:37 → 123
      SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
      cd04372
      Location:260 → 453
      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:200 → 252
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    5. NM_001293073.2 → NP_001280002.1  beta-chimaerin isoform 7

      See identical proteins and their annotated locations for NP_001280002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as B1-CHNdel ex7p) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
      Source sequence(s)
      AC007255
      Consensus CDS
      CCDS94073.1
      UniProtKB/TrEMBL
      B7Z701
      Related
      ENSP00000516243.1, ENST00000467441.6
      Conserved Domains (2) summary
      cd04372
      Location:94 → 287
      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:37 → 86
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    6. NM_001293075.2 → NP_001280004.1  beta-chimaerin isoform 8

      See identical proteins and their annotated locations for NP_001280004.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as B1-CHNdel ex7p,11) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (8) is shorter than isoform 1.
      Source sequence(s)
      AC007255
      UniProtKB/TrEMBL
      B7Z701
      Conserved Domains (2) summary
      pfam00130
      Location:37 → 86
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02570
      Location:94 → 241
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    7. NM_001293076.2 → NP_001280005.1  beta-chimaerin isoform 9

      See identical proteins and their annotated locations for NP_001280005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as B1-CHNdel ex9) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (9) is shorter than isoform 1.
      Source sequence(s)
      AC007255
      Consensus CDS
      CCDS78219.1
      UniProtKB/Swiss-Prot
      P52757
      Related
      ENSP00000394284.2, ENST00000421775.6
      Conserved Domains (2) summary
      pfam00130
      Location:79 → 110
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02570
      Location:107 → 274
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    8. NM_001293077.2 → NP_001280006.1  beta-chimaerin isoform 10

      See identical proteins and their annotated locations for NP_001280006.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10, also known as B1-CHNdel ex10-11) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (10) is shorter than isoform 1.
      Source sequence(s)
      AC007255
      Consensus CDS
      CCDS78218.1
      UniProtKB/TrEMBL
      B3VCF5
      Related
      ENSP00000386849.5, ENST00000409041.8
      Conserved Domains (2) summary
      pfam00130
      Location:79 → 131
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02570
      Location:139 → 260
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    9. NM_001293078.2 → NP_001280007.1  beta-chimaerin isoform 11

      See identical proteins and their annotated locations for NP_001280007.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11, also known as B1-CHNdel ex9,11) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (11) is shorter than isoform 1.
      Source sequence(s)
      AC007255
      Consensus CDS
      CCDS78220.1
      UniProtKB/TrEMBL
      B3VCF4
      Related
      ENSP00000406337.3, ENST00000424025.5
      Conserved Domains (2) summary
      pfam00130
      Location:79 → 110
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02570
      Location:107 → 228
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    10. NM_001293079.2 → NP_001280008.1  beta-chimaerin isoform 12

      See identical proteins and their annotated locations for NP_001280008.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12, also known as B1-CHNdel ex11-12) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (12) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC007255
      Consensus CDS
      CCDS78217.1
      UniProtKB/TrEMBL
      B3VCF6
      Related
      ENSP00000387425.3, ENST00000439711.7
      Conserved Domains (2) summary
      pfam00130
      Location:79 → 131
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02570
      Location:139 → 194
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    11. NM_001293080.2 → NP_001280009.1  beta-chimaerin isoform 13

      See identical proteins and their annotated locations for NP_001280009.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13, also known as B1-CHNdel ex11) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (13) is shorter than isoform 1.
      Source sequence(s)
      AC007255
      UniProtKB/TrEMBL
      B7Z701
      Conserved Domains (2) summary
      pfam00130
      Location:79 → 131
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02570
      Location:139 → 286
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    12. NM_001293081.2 → NP_001280010.1  beta-chimaerin isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (14) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC007255
      UniProtKB/TrEMBL
      B7Z215
      Conserved Domains (2) summary
      cd04372
      Location:68 → 261
      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:12 → 60
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    13. NM_001398427.1 → NP_001385356.1  beta-chimaerin isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC004417, AC005232, AC007255
      Conserved Domains (2) summary
      cd04372
      Location:129 → 322
      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 ...
      cd20857
      Location:64 → 124
      C1_betaCHN; protein kinase C conserved region 1 (C1 domain) found in beta-chimaerin and similar proteins

    14. NM_004067.4 → NP_004058.1  beta-chimaerin isoform 2

      See identical proteins and their annotated locations for NP_004058.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains multiple additional 5' coding exons, compared to variant 1. It represents use of an alternate promoter and initiates translation from an alternate start codon. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AC004417, AC004593, AC007255
      Consensus CDS
      CCDS5420.1
      UniProtKB/Swiss-Prot
      A4D1A2, B3VCF1, B3VCF2, B3VCF3, B3VCF7, B3VCG1, C9J7B0, E9PGE0, F8QPL9, P52757, Q2M203, Q75MM2
      UniProtKB/TrEMBL
      A0A2X0TVW3, H7C0V3
      Related
      ENSP00000222792.7, ENST00000222792.11
      Conserved Domains (3) summary
      cd10352
      Location:52 → 138
      SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
      cd04372
      Location:275 → 468
      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 ...
      cd20857
      Location:210 → 270
      C1_betaCHN; protein kinase C conserved region 1 (C1 domain) found in beta-chimaerin and similar proteins

    RNA

    1. NR_120524.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007255

    2. NR_120525.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007255

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      29146591..29514328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515105.3 → XP_011513407.2  beta-chimaerin isoform X1

    2. XM_011515106.3 → XP_011513408.2  beta-chimaerin isoform X1

    3. XM_017011722.2 → XP_016867211.1  beta-chimaerin isoform X2

      UniProtKB/TrEMBL
      H7C0V3

    4. XM_011515107.3 → XP_011513409.1  beta-chimaerin isoform X3

      UniProtKB/TrEMBL
      A0A994J7L4, H7C0V3
      Related
      ENSP00000516239.1, ENST00000706161.1
      Conserved Domains (3) summary
      cd10352
      Location:78 → 164
      SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
      cd04372
      Location:301 → 494
      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:241 → 293
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    5. XM_047419839.1 → XP_047275795.1  beta-chimaerin isoform X4

      UniProtKB/TrEMBL
      H7C0V3

    6. XM_047419840.1 → XP_047275796.1  beta-chimaerin isoform X1

    7. XM_047419841.1 → XP_047275797.1  beta-chimaerin isoform X1

    8. XM_047419842.1 → XP_047275798.1  beta-chimaerin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      29284405..29652211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357169.1 → XP_054213144.1  beta-chimaerin isoform X1

    2. XM_054357170.1 → XP_054213145.1  beta-chimaerin isoform X1

    3. XM_054357172.1 → XP_054213147.1  beta-chimaerin isoform X2

      UniProtKB/TrEMBL
      H7C0V3

    4. XM_054357173.1 → XP_054213148.1  beta-chimaerin isoform X3

      UniProtKB/TrEMBL
      A0A994J7L4, H7C0V3

    5. XM_054357171.1 → XP_054213146.1  beta-chimaerin isoform X4

      UniProtKB/TrEMBL
      H7C0V3

    6. XM_054357174.1 → XP_054213149.1  beta-chimaerin isoform X1

    7. XM_054357175.1 → XP_054213150.1  beta-chimaerin isoform X1

    8. XM_054357176.1 → XP_054213151.1  beta-chimaerin isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001293069.1: Suppressed sequence

      Description
      NM_001293069.1: This RefSeq was removed because currently there is insufficient support for the protein.

    2. NR_120523.1: Suppressed sequence

      Description
      NR_120523.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52757.2 GenPept UniProtKB/Swiss-Prot:P52757

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