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Aliases for CHN2 Gene

Aliases for CHN2 Gene

  • Chimerin 2 2 3 5
  • Chimerin (Chimaerin) 2 2 3
  • Beta-Chimerin 3 4
  • ARHGAP3 3 4
  • BCH 3 4
  • Rho-GTPase-Activating Protein 3 3
  • Rho GTPase-Activating Protein 3 4
  • Chimerin, Testis-Specific 3
  • Chimerin, Beta-2 3
  • Beta3-Chimaerin 3
  • Beta-Chimaerin 3
  • Beta Chimerin 2
  • Chimaerin 2 2
  • RHOGAP3 3
  • CHN2-3 3

External Ids for CHN2 Gene

Previous GeneCards Identifiers for CHN2 Gene

  • GC07P028876
  • GC07P028976
  • GC07P029007
  • GC07P029200
  • GC07P029115

Summaries for CHN2 Gene

Entrez Gene Summary for CHN2 Gene

  • 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]

GeneCards Summary for CHN2 Gene

CHN2 (Chimerin 2) is a Protein Coding gene. Diseases associated with CHN2 include Hepatosplenic T-Cell Lymphoma and Microvascular Complications Of Diabetes 7. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and G-protein signaling_Regulation of RAC1 activity. GO annotations related to this gene include GTPase activator activity and SH3/SH2 adaptor activity. An important paralog of this gene is CHN1.

UniProtKB/Swiss-Prot for CHN2 Gene

  • GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors.

Gene Wiki entry for CHN2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHN2 Gene

Genomics for CHN2 Gene

Regulatory Elements for CHN2 Gene

Enhancers for CHN2 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
GH07G029336 1.8 FANTOM5 Ensembl ENCODE dbSUPER 30.1 +215.3 215251 2.2 FOXA2 ATF1 MLX ZFP64 ARID4B ZNF48 YY1 SP5 MXD4 NFYC CHN2 CPVL LOC102724484 GC07P029212 GC07M029201
GH07G029319 1.5 FANTOM5 Ensembl ENCODE dbSUPER 25.2 +197.7 197728 0.8 ATF1 BHLHE40 REST EBF1 TBX21 ATF2 EP300 POLR2A SMARCA4 ATF3 CHN2 CPVL LOC102724484 TRIL GC07P029212 GC07M029201
GH07G029254 1.4 FANTOM5 Ensembl ENCODE 15.3 +133.7 133691 2.7 PKNOX1 FEZF1 RFX5 GATA2 ZNF366 SCRT2 ZNF143 FOS THAP11 SMARCC1 CHN2 LOC102724484 GC07P029212 GC07M029201
GH07G029291 1.1 ENCODE dbSUPER 19.3 +169.4 169434 1.2 ELF3 FOXA2 ATF1 THRB RAD21 RARA YY1 SP5 PPARG SSRP1 CHN2 CPVL LOC102724484 GC07P029212 GC07M029201
GH07G029193 1.5 FANTOM5 ENCODE dbSUPER 13.8 +72.8 72835 3.3 FOXA2 ARID4B ZNF2 ZNF48 YY1 GLIS2 FOS ZHX2 REST TBX21 CHN2 GC07M029191 CPVL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHN2 Gene

Chromosome:
7
Start:
29,122,274 bp from pter
End:
29,514,335 bp from pter
Size:
392,062 bases
Orientation:
Plus strand

Genomic View for CHN2 Gene

Genes around CHN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHN2 Gene

Proteins for CHN2 Gene

  • Protein details for CHN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52757-CHIO_HUMAN
    Recommended name:
    Beta-chimaerin
    Protein Accession:
    P52757
    Secondary Accessions:
    • A4D1A2
    • B3VCF1
    • B3VCF2
    • B3VCF3
    • B3VCF7
    • B3VCG1
    • C9J7B0
    • E9PGE0
    • F8QPL9
    • Q2M203
    • Q75MM2

    Protein attributes for CHN2 Gene

    Size:
    468 amino acids
    Molecular mass:
    53924 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CHN2 Gene

    Alternative splice isoforms for CHN2 Gene

neXtProt entry for CHN2 Gene

Post-translational modifications for CHN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CHN2 Gene

Domains & Families for CHN2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CHN2: view

No data available for UniProtKB/Swiss-Prot for CHN2 Gene

Function for CHN2 Gene

Molecular function for CHN2 Gene

GENATLAS Biochemistry:
chimerin beta-2,GTPase activating protein for the ras-related p21rac,DAG (diacylglycerol) receptor,expressed in cerebellum,homolog to CHN1
UniProtKB/Swiss-Prot EnzymeRegulation:
In the inactive state, the N terminus protrudes into the active site of the Rho-GAP domain, sterically blocking Rac binding. Phospholipid binding to the Phorbol-ester/DAG-type zinc-finger/C1 domain triggers the cooperative dissociation of these interactions, allowing the N-terminus to move out of the active site and thereby activating the enzyme.
UniProtKB/Swiss-Prot Function:
GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors.

Gene Ontology (GO) - Molecular Function for CHN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 8175705
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 16628218
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CHN2: view
genes like me logo Genes that share phenotypes with CHN2: view

Animal Models for CHN2 Gene

MGI Knock Outs for CHN2:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CHN2 Gene

Localization for CHN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHN2 Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHN2 gene
Compartment Confidence
cytosol 5
lysosome 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CHN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CHN2: view

Pathways & Interactions for CHN2 Gene

genes like me logo Genes that share pathways with CHN2: view

Pathways by source for CHN2 Gene

2 Cell Signaling Technology pathways for CHN2 Gene
2 BioSystems pathways for CHN2 Gene

SIGNOR curated interactions for CHN2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CHN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0009967 positive regulation of signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043087 regulation of GTPase activity IBA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with CHN2: view

Drugs & Compounds for CHN2 Gene

(3) Additional Compounds for CHN2 Gene - From: 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 CHN2: view

Transcripts for CHN2 Gene

Unigene Clusters for CHN2 Gene

Chimerin 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHN2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: - -
SP2:
SP3:
SP4:
SP5: - -
SP6: -

Relevant External Links for CHN2 Gene

GeneLoc Exon Structure for
CHN2
ECgene alternative splicing isoforms for
CHN2

Expression for CHN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHN2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x13.6) and Brain - Cerebellum (x9.7).

Protein differential expression in normal tissues from HIPED for CHN2 Gene

This gene is overexpressed in Fetal Brain (36.7) and Pancreas (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHN2 Gene



NURSA nuclear receptor signaling pathways regulating expression of CHN2 Gene:

CHN2

SOURCE GeneReport for Unigene cluster for CHN2 Gene:

Hs.654611

mRNA Expression by UniProt/SwissProt for CHN2 Gene:

P52757-CHIO_HUMAN
Tissue specificity: Highest levels in the brain and pancreas. Also expressed in the heart, placenta, and weakly in the kidney and liver. Expression is much reduced in the malignant gliomas, compared to normal brain or low-grade astrocytomas.

Evidence on tissue expression from TISSUES for CHN2 Gene

  • Nervous system(4.9)
  • Intestine(4.2)
  • Liver(2.3)
genes like me logo Genes that share expression patterns with CHN2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHN2 Gene

Orthologs for CHN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHN2 34 35
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia CHN2 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHN2 35
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHN2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHN2 34 35
  • 92.09 (n)
mouse
(Mus musculus)
Mammalia Chn2 34 16 35
  • 90.38 (n)
chicken
(Gallus gallus)
Aves CHN2 34 35
  • 83.4 (n)
lizard
(Anolis carolinensis)
Reptilia CHN2 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chn2 34
  • 77.3 (n)
zebrafish
(Danio rerio)
Actinopterygii chn2 34 35
  • 71.9 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11065 34
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP5A 36 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea chin-1 34 35
  • 51.65 (n)
BE0003N10.2 36
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
Species where no ortholog for CHN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rat (Rattus norvegicus)
  • 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 CHN2 Gene

ENSEMBL:
Gene Tree for CHN2 (if available)
TreeFam:
Gene Tree for CHN2 (if available)

Paralogs for CHN2 Gene

Variants for CHN2 Gene

Sequence variations from dbSNP and Humsavar for CHN2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000015142 -- 29,175,232(+) TGTAG(C/T)GGCAC intron-variant
rs1000019046 -- 29,304,346(+) TAAGA(A/T)ACCAA intron-variant
rs1000023597 -- 29,337,804(+) GCTTC(A/C)TGTGC intron-variant
rs1000054070 -- 29,353,078(+) GTGTG(-/C)CTAGG intron-variant
rs1000057646 -- 29,358,640(+) TTTGT(A/G)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHN2 Gene

Variant ID Type Subtype PubMed ID
dgv11248n54 CNV gain 21841781
dgv6312n100 CNV loss 25217958
esv2028870 CNV deletion 18987734
esv2194510 CNV deletion 18987734
esv2526582 CNV deletion 19546169
esv2659047 CNV deletion 23128226
esv2675235 CNV deletion 23128226
esv2734182 CNV deletion 23290073
esv2734183 CNV deletion 23290073
esv2734185 CNV deletion 23290073
esv2761314 CNV gain 21179565
esv2762661 CNV loss 21179565
esv33032 CNV gain 17666407
esv3306168 CNV mobile element insertion 20981092
esv3306644 CNV mobile element insertion 20981092
esv3309480 CNV mobile element insertion 20981092
esv3330105 CNV insertion 20981092
esv3336265 CNV insertion 20981092
esv3449687 CNV insertion 20981092
esv3541392 CNV deletion 23714750
esv3541394 CNV deletion 23714750
esv3612685 CNV loss 21293372
esv3612690 CNV loss 21293372
esv3612691 CNV loss 21293372
esv3612692 CNV loss 21293372
esv3612693 CNV loss 21293372
esv4539 CNV loss 18987735
nsv1019174 CNV gain 25217958
nsv1034932 CNV loss 25217958
nsv1109854 CNV deletion 24896259
nsv366043 CNV deletion 16902084
nsv477820 CNV novel sequence insertion 20440878
nsv5680 CNV insertion 18451855
nsv5681 CNV deletion 18451855
nsv830934 CNV gain 17160897
nsv970811 CNV duplication 23825009

Variation tolerance for CHN2 Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHN2 Gene

Human Gene Mutation Database (HGMD)
CHN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHN2 Gene

Disorders for CHN2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CHN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatosplenic t-cell lymphoma
microvascular complications of diabetes 7
  • diabetic nephropathy
background diabetic retinopathy
  • non proliferative diabetic retinopathy
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search CHN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CHN2

Genetic Association Database (GAD)
CHN2
Human Genome Epidemiology (HuGE) Navigator
CHN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHN2
genes like me logo Genes that share disorders with CHN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHN2 Gene

Publications for CHN2 Gene

  1. Cerebellar beta 2-chimaerin, a GTPase-activating protein for p21 ras- related rac is specifically expressed in granule cells and has a unique N-terminal SH2 domain. (PMID: 8175705) Leung T. … Lim L. (J. Biol. Chem. 1994) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A Bayesian approach to genetic association studies with family-based designs. (PMID: 20818722) Naylor M.G. … Lange C. (Genet. Epidemiol. 2010) 3 46 64
  4. Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. (PMID: 20460425) Maeda S. … Nakamura Y. (Diabetes 2010) 3 46 64
  5. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M. … Kaibuchi K. (J. Hum. Genet. 2010) 3 46 64

Products for CHN2 Gene

Sources for CHN2 Gene

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