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Aliases for CHIC2 Gene

Aliases for CHIC2 Gene

  • Cysteine Rich Hydrophobic Domain 2 2 3 5
  • BTL 3 4
  • Cysteine-Rich Hydrophobic Domain 2 Protein 3
  • Cysteine-Rich Hydrophobic Domain 2 2
  • BRX-Like Translocated In Leukemia 3
  • Cystein-Rich Hydrophobic Domain 2 3
  • BrX-Like Translocated In Leukemia 4

External Ids for CHIC2 Gene

Previous GeneCards Identifiers for CHIC2 Gene

  • GC04M054686
  • GC04M054845
  • GC04M054725
  • GC04M054791
  • GC04M054716
  • GC04M054570
  • GC04M054875
  • GC04M050822

Summaries for CHIC2 Gene

Entrez Gene Summary for CHIC2 Gene

  • This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for CHIC2 Gene

CHIC2 (Cysteine Rich Hydrophobic Domain 2) is a Protein Coding gene. Diseases associated with CHIC2 include leukemia, acute myeloid and calcific tendinitis. An important paralog of this gene is CHIC1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHIC2 Gene

Genomics for CHIC2 Gene

Regulatory Elements for CHIC2 Gene

Promoters for CHIC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHIC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHIC2 Gene

Chromosome:
4
Start:
54,008,373 bp from pter
End:
54,065,427 bp from pter
Size:
57,055 bases
Orientation:
Minus strand

Genomic View for CHIC2 Gene

Genes around CHIC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHIC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHIC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHIC2 Gene

Proteins for CHIC2 Gene

  • Protein details for CHIC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKJ5-CHIC2_HUMAN
    Recommended name:
    Cysteine-rich hydrophobic domain-containing protein 2
    Protein Accession:
    Q9UKJ5
    Secondary Accessions:
    • B2R639

    Protein attributes for CHIC2 Gene

    Size:
    165 amino acids
    Molecular mass:
    19254 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHIC2 Gene

Proteomics data for CHIC2 Gene at MOPED

Post-translational modifications for CHIC2 Gene

  • Palmitoylation in the CHIC motif is required for membrane association.
  • Ubiquitination at Lys 77 and Lys 117
  • Modification sites at PhosphoSitePlus

Other Protein References for CHIC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHIC2 Gene

Domains & Families for CHIC2 Gene

Protein Domains for CHIC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHIC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UKJ5

UniProtKB/Swiss-Prot:

CHIC2_HUMAN :
  • Belongs to the CHIC family.
Family:
  • Belongs to the CHIC family.
genes like me logo Genes that share domains with CHIC2: view

No data available for Gene Families for CHIC2 Gene

Function for CHIC2 Gene

genes like me logo Genes that share phenotypes with CHIC2: view

Animal Models for CHIC2 Gene

MGI Knock Outs for CHIC2:

Animal Model Products

miRNA for CHIC2 Gene

miRTarBase miRNAs that target CHIC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHIC2 Gene

Localization for CHIC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHIC2 Gene

Cell membrane. Cytoplasmic vesicle. Note=Also present at a Golgi-like vesicular compartment and at scattered vesicles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHIC2 Gene COMPARTMENTS Subcellular localization image for CHIC2 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 4
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CHIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005798 Golgi-associated vesicle IEA,IBA --
genes like me logo Genes that share ontologies with CHIC2: view

Pathways & Interactions for CHIC2 Gene

SuperPathways for CHIC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHIC2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CHIC2 Gene

Drugs & Compounds for CHIC2 Gene

No Compound Related Data Available

Transcripts for CHIC2 Gene

Unigene Clusters for CHIC2 Gene

Cysteine-rich hydrophobic domain 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHIC2 Gene

No ASD Table

Relevant External Links for CHIC2 Gene

GeneLoc Exon Structure for
CHIC2
ECgene alternative splicing isoforms for
CHIC2

Expression for CHIC2 Gene

mRNA expression in normal human tissues for CHIC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHIC2 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for CHIC2 Gene

This gene is overexpressed in Placenta (32.1), CD4 Tcells (11.3), Retina (7.4), and Liver (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHIC2 Gene



SOURCE GeneReport for Unigene cluster for CHIC2 Gene Hs.335393

genes like me logo Genes that share expression patterns with CHIC2: view

Protein tissue co-expression partners for CHIC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CHIC2 Gene

Orthologs for CHIC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHIC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHIC2 35
  • 97.98 (n)
  • 100 (a)
CHIC2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHIC2 35
  • 99.47 (n)
  • 100 (a)
CHIC2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chic2 35
  • 95.96 (n)
  • 99.39 (a)
Chic2 16
Chic2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHIC2 35
  • 99.6 (n)
  • 100 (a)
CHIC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chic2 35
  • 95.76 (n)
  • 99.39 (a)
oppossum
(Monodelphis domestica)
Mammalia CHIC2 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHIC2 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHIC2 35
  • 92.32 (n)
  • 98.79 (a)
CHIC2 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHIC2 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chic2 35
  • 87.47 (n)
  • 94.55 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32435 35
zebrafish
(Danio rerio)
Actinopterygii chic2 35
  • 78.62 (n)
  • 93.79 (a)
zgc55670 35
chic2 36
  • 90 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5938 37
  • 64 (a)
CG5938 35
  • 62.8 (n)
  • 69.57 (a)
CG5938 36
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001278 35
  • 61.01 (n)
  • 67.88 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-266 36
  • 44 (a)
OneToMany
Species with no ortholog for CHIC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CHIC2 Gene

ENSEMBL:
Gene Tree for CHIC2 (if available)
TreeFam:
Gene Tree for CHIC2 (if available)

Paralogs for CHIC2 Gene

Paralogs for CHIC2 Gene

(1) SIMAP similar genes for CHIC2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CHIC2: view

Variants for CHIC2 Gene

Sequence variations from dbSNP and Humsavar for CHIC2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1568511 -- 54,012,745(-) TTAAT(G/T)TATGA intron-variant
rs1568512 -- 54,012,665(-) GACTA(C/G)TCTTG intron-variant
rs2139955 -- 54,031,636(+) ttttg(G/T)gagac intron-variant
rs2139956 -- 54,031,677(+) tacag(G/T)ggtgc intron-variant
rs2139957 -- 54,031,698(+) cactg(C/G)aacct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHIC2 Gene

Variant ID Type Subtype PubMed ID
nsv879018 CNV Loss 21882294
nsv879019 CNV Loss 21882294

Variation tolerance for CHIC2 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHIC2 Gene

HapMap Linkage Disequilibrium report
CHIC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHIC2 Gene

Disorders for CHIC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CHIC2 Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
calcific tendinitis
- elite association - COSMIC cancer census association via MalaCards
Search CHIC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHIC2_HUMAN
  • Note=A chromosomal aberration involving CHIC2 is found in a form of acute myeloid leukemia (AML). Translocation t(4;12)(q12;p13) with ETV6. {ECO:0000269 PubMed:10477709}.

Relevant External Links for CHIC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHIC2
genes like me logo Genes that share disorders with CHIC2: view

No data available for Genatlas for CHIC2 Gene

Publications for CHIC2 Gene

  1. Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). (PMID: 10477709) Cools J. … Marynen P. (Blood 1999) 2 3 4 67
  2. A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif. (PMID: 11257495) Cools J. … Marynen P. (FEBS Lett. 2001) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. (PMID: 22558309) Wong K.A. … O'Bryan J.P. (PLoS ONE 2012) 3

Products for CHIC2 Gene

Sources for CHIC2 Gene

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