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CHN2 chimerin 2 [ Homo sapiens (human) ]

Gene ID: 1124, updated on 23-Nov-2023

Summary

Official Symbol
CHN2provided by HGNC
Official Full Name
chimerin 2provided by HGNC
Primary source
HGNC:HGNC:1944
See related
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
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Genomic context

See CHN2 in Genome Data Viewer
Location:
7p14.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (29146591..29514328)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (29284405..29652211)
105.20220307 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 regulation of GTPase activity 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

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)

NEW Try the new Transcript table

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_001039936.3NP_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
    Conserved Domains (2) summary
    cd04372
    Location:139332
    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:79131
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  2. NM_001293070.2NP_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
    Conserved Domains (3) summary
    cd10352
    Location:65151
    SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
    cd04372
    Location:288481
    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:223283
    C1_betaCHN; protein kinase C conserved region 1 (C1 domain) found in beta-chimaerin and similar proteins
  3. NM_001293071.2NP_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:17103
    SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
    cd04372
    Location:240433
    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:180232
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  4. NM_001293072.2NP_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:37123
    SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
    cd04372
    Location:260453
    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:200252
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  5. NM_001293073.2NP_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
    Conserved Domains (2) summary
    cd04372
    Location:94287
    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:3786
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  6. NM_001293075.2NP_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:3786
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl02570
    Location:94241
    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_001293076.2NP_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
    Conserved Domains (2) summary
    pfam00130
    Location:79110
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl02570
    Location:107274
    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_001293077.2NP_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
    Conserved Domains (2) summary
    pfam00130
    Location:79131
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl02570
    Location:139260
    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_001293078.2NP_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
    Conserved Domains (2) summary
    pfam00130
    Location:79110
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl02570
    Location:107228
    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_001293079.2NP_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
    Conserved Domains (2) summary
    pfam00130
    Location:79131
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl02570
    Location:139194
    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_001293080.2NP_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:79131
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl02570
    Location:139286
    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_001293081.2NP_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:68261
    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:1260
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  13. NM_001398427.1NP_001385356.1  beta-chimaerin isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC004417, AC005232, AC007255
    Conserved Domains (2) summary
    cd04372
    Location:129322
    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:64124
    C1_betaCHN; protein kinase C conserved region 1 (C1 domain) found in beta-chimaerin and similar proteins
  14. NM_004067.4NP_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
    Conserved Domains (3) summary
    cd10352
    Location:52138
    SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
    cd04372
    Location:275468
    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:210270
    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_2023_10

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_011515105.3XP_011513407.2  beta-chimaerin isoform X1

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

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

    UniProtKB/TrEMBL
    H7C0V3
  4. XM_011515107.3XP_011513409.1  beta-chimaerin isoform X3

    UniProtKB/TrEMBL
    A0A994J7L4, H7C0V3
    Conserved Domains (3) summary
    cd10352
    Location:78164
    SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
    cd04372
    Location:301494
    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:241293
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  5. XM_047419839.1XP_047275795.1  beta-chimaerin isoform X4

    UniProtKB/TrEMBL
    H7C0V3
  6. XM_047419840.1XP_047275796.1  beta-chimaerin isoform X1

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

  8. XM_047419842.1XP_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_054357169.1XP_054213144.1  beta-chimaerin isoform X1

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

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

    UniProtKB/TrEMBL
    H7C0V3
  4. XM_054357173.1XP_054213148.1  beta-chimaerin isoform X3

    UniProtKB/TrEMBL
    A0A994J7L4, H7C0V3
  5. XM_054357171.1XP_054213146.1  beta-chimaerin isoform X4

    UniProtKB/TrEMBL
    H7C0V3
  6. XM_054357174.1XP_054213149.1  beta-chimaerin isoform X1

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

  8. XM_054357176.1XP_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.