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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 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 kuru. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include GTPase activator activity and SH3/SH2 adaptor activity. An important paralog of this gene is ABR.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHN2 Gene

Genomics for CHN2 Gene

Regulatory Elements for CHN2 Gene

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

Proteomics data for CHN2 Gene at MOPED

Post-translational modifications for CHN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CHN2 (ARHGAP3)

No data available for DME Specific Peptides for CHN2 Gene

Domains & Families for CHN2 Gene

Graphical View of Domain Structure for InterPro Entry

P52757

UniProtKB/Swiss-Prot:

CHIO_HUMAN :
  • Contains 1 Rho-GAP domain.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • Contains 1 Rho-GAP domain.
  • Contains 1 SH2 domain.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with CHN2: view

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:0005096 GTPase activator activity IEA,TAS --
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:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for CHN2 Gene COMPARTMENTS Subcellular localization image for CHN2 gene
Compartment Confidence
cytosol 5
lysosome 2
vacuole 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CHN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
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

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:0007264 small GTPase mediated signal transduction TAS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
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:

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 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, MOPED, and MaxQB for CHN2 Gene



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.
genes like me logo Genes that share expression patterns with CHN2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
dog
(Canis familiaris)
Mammalia CHN2 35
  • 92.09 (n)
  • 97.44 (a)
CHN2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chn2 35
  • 90.38 (n)
  • 97.65 (a)
Chn2 16
Chn2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHN2 35
  • 99.22 (n)
  • 100 (a)
CHN2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHN2 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHN2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHN2 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHN2 35
  • 83.4 (n)
  • 93.59 (a)
CHN2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHN2 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chn2 35
  • 77.3 (n)
  • 83.94 (a)
zebrafish
(Danio rerio)
Actinopterygii chn2 35
  • 71.9 (n)
  • 81.08 (a)
chn2 36
  • 81 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11065 35
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP5A 37
  • 39 (a)
RhoGAP5A 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea BE0003N10.2 37
  • 43 (a)
chin-1 35
  • 51.65 (n)
  • 43.43 (a)
chin-1 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for CHN2:
  • 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

Paralogs for CHN2 Gene

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

Variants for CHN2 Gene

Sequence variations from dbSNP and Humsavar for CHN2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs3750103 - 29,480,313(-) CGTTG(C/T)GTGTG intron-variant, reference, missense
VAR_049136 -
rs446 -- 29,312,779(+) CCCAA(A/G)TAATG intron-variant
rs39047 -- 29,188,934(+) GATAT(A/G)GTTTT intron-variant
rs39048 -- 29,192,408(+) AAACA(G/T)AATCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv5680 CNV Insertion 18451855
esv2675235 CNV Deletion 23128226
esv2734182 CNV Deletion 23290073
nsv887895 CNV Gain 21882294
esv2194510 CNV Deletion 18987734
nsv5681 CNV Loss 18451855
nsv830934 CNV Gain 17160897
esv2734183 CNV Deletion 23290073
esv270445 CNV Insertion 20981092
esv2659047 CNV Deletion 23128226
esv273752 CNV Insertion 20981092
esv2526582 CNV Deletion 19546169
esv2028870 CNV Deletion 18987734
esv4539 CNV Deletion 18987735
esv2734185 CNV Deletion 23290073
esv270920 CNV Insertion 20981092
esv33032 CNV Gain 17666407
nsv366043 CNV Loss 16902084

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

HapMap Linkage Disequilibrium report
CHN2
Human Gene Mutation Database (HGMD)
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
kuru
  • kuru encephalopathy
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 23 67
  2. Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. (PMID: 19720790) Suliman S.G. … Gloyn A.L. (Diabetes 2009) 3 23
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. Chimerin 2 genetic polymorphisms are associated with non-proliferative diabetic retinopathy in Taiwanese type 2 diabetic patients. (PMID: 24854763) Chen M. … Tsai F.J. (J. Diabetes Complicat. 2014) 3
  5. Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma. (PMID: 25057852) Finalet Ferreiro J. … Wlodarska I. (PLoS ONE 2014) 3

Products for CHN2 Gene

Sources for CHN2 Gene

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