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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-Containing Protein 2 3
  • 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.

Additional gene information for CHIC2 Gene

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

Genomics for CHIC2 Gene

GeneHancer (GH) Regulatory Elements for CHIC2 Gene

Promoters and enhancers for CHIC2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I054061 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 572.8 +0.4 414 6.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 CHIC2 GSX2 ENSG00000249706 ENSG00000269506 ENSG00000282278
GH04I053363 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.3 +700.0 700039 3.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B SCFD2 ENSG00000272650 FIP1L1 CHIC2 RNU6-310P GC04M053266
GH04I053376 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.3 +687.4 687382 2.3 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 FIP1L1 LOC105377654 ENSG00000282278 ENSG00000272650 CHIC2 SCFD2 GC04M053405
GH04I054091 Enhancer 1.1 Ensembl ENCODE 11.5 -26.4 -26374 1.6 FOXA2 FEZF1 DMAP1 ZNF2 DNMT3B ZSCAN9 RAD21 RARA YY1 ZNF335 CHIC2 ENSG00000249706 GC04P054087 GSX2 ENSG00000282278
GH04I053918 Enhancer 0.7 FANTOM5 Ensembl ENCODE 17.7 +145.7 145704 1.8 ZNF449 CHIC2 ENSG00000249706 PDGFRA GSX2 GC04M053928 ENSG00000282278
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHIC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHIC2 gene promoter:

Genomic Locations for CHIC2 Gene

Genomic Locations for CHIC2 Gene
57,055 bases
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:
    Recommended name:
    Cysteine-rich hydrophobic domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • B2R639

    Protein attributes for CHIC2 Gene

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

neXtProt entry for CHIC2 Gene

Post-translational modifications for CHIC2 Gene

  • Palmitoylation in the CHIC motif is required for membrane association.
  • Ubiquitination at posLast=7777 and posLast=117117
  • Modification sites at PhosphoSitePlus

Other Protein References for CHIC2 Gene

No data available for DME Specific Peptides for CHIC2 Gene

Domains & Families for CHIC2 Gene

Gene Families for CHIC2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CHIC2 Gene


Suggested Antigen Peptide Sequences for CHIC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for CHIC2 Gene

Phenotypes From GWAS Catalog for CHIC2 Gene

Gene Ontology (GO) - Molecular Function for CHIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CHIC2: view
genes like me logo Genes that share phenotypes with CHIC2: view

Animal Models for CHIC2 Gene

MGI Knock Outs for CHIC2:

Animal Model Products

CRISPR Products

miRNA for CHIC2 Gene

miRTarBase miRNAs that target CHIC2

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

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 CHIC2 gene
Compartment Confidence
plasma membrane 4
golgi apparatus 4
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005794 Golgi apparatus IEA --
GO:0005798 Golgi-associated vesicle IEA,IBA --
GO:0005886 plasma membrane IBA,IDA --
GO:0016020 membrane IEA --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006893 Golgi to plasma membrane transport IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CHIC2: view

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:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for CHIC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHIC2 Gene

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

Protein tissue co-expression partners for CHIC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHIC2 Gene:


SOURCE GeneReport for Unigene cluster for CHIC2 Gene:


Evidence on tissue expression from TISSUES for CHIC2 Gene

  • Skin(4.4)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CHIC2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Monodelphis domestica)
Mammalia CHIC2 34
  • 100 (a)
(Pan troglodytes)
Mammalia CHIC2 33 34
  • 99.6 (n)
(Canis familiaris)
Mammalia CHIC2 33 34
  • 99.47 (n)
(Bos Taurus)
Mammalia CHIC2 33 34
  • 97.98 (n)
(Mus musculus)
Mammalia Chic2 33 16 34
  • 95.96 (n)
(Rattus norvegicus)
Mammalia Chic2 33
  • 95.76 (n)
(Ornithorhynchus anatinus)
Mammalia CHIC2 34
  • 81 (a)
(Gallus gallus)
Aves CHIC2 33 34
  • 92.32 (n)
(Anolis carolinensis)
Reptilia CHIC2 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chic2 33
  • 87.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32435 33
(Danio rerio)
Actinopterygii chic2 33 34
  • 78.62 (n)
zgc55670 33
fruit fly
(Drosophila melanogaster)
Insecta CG5938 35 33 34
  • 62.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001278 33
  • 61.01 (n)
(Caenorhabditis elegans)
Secernentea tag-266 34
  • 44 (a)
Species where no ortholog for CHIC2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for CHIC2 (if available)
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 Variation AA Info Type
rs1000029281 -- 54,002,619(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000036635 -- 54,020,577(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000049899 -- 54,059,456(-) C/G intron_variant
rs1000055839 -- 54,014,848(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000079231 -- 54,059,789(-) C/A intron_variant

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)

Additional Variant Information for CHIC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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
  • aml
calcific tendinitis
- elite association - COSMIC cancer census association via MalaCards
Search CHIC2 in MalaCards View complete list of genes associated with diseases


  • 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}.

Additional Disease Information for 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. 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 letters 2001) 3 4 22 58
  2. 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 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for CHIC2 Gene

Sources for CHIC2 Gene

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