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] See more...

Aliases for CHIC2 Gene

Aliases for CHIC2 Gene

  • Cysteine Rich Hydrophobic Domain 2 2 3 5
  • BTL 2 3 4
  • Cysteine-Rich Hydrophobic Domain-Containing Protein 2 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
  • CHIC2 5

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 Clivus Meningioma. An important paralog of this gene is CHIC1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHIC2 Gene

Genomics for CHIC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHIC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHIC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHIC2

Top Transcription factor binding sites by QIAGEN in the CHIC2 gene promoter:
  • AML1a
  • C/EBPalpha
  • E2F
  • E2F-1
  • PPAR-alpha
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT5B

Genomic Locations for CHIC2 Gene

Genomic Locations for CHIC2 Gene
chr4:53,996,335-54,064,690
(GRCh38/hg38)
Size:
68,356 bases
Orientation:
Minus strand
chr4:54,875,956-54,930,857
(GRCh37/hg19)
Size:
54,902 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

Post-translational modifications for CHIC2 Gene

  • Palmitoylation in the CHIC motif is required for membrane association.
  • Ubiquitination at Lys77 and Lys117
  • Modification sites at PhosphoSitePlus

Other Protein References for CHIC2 Gene

Antibody Products

  • Boster Bio Antibodies for CHIC2

No data available for DME Specific Peptides for CHIC2 Gene

Domains & Families for CHIC2 Gene

Gene Families for CHIC2 Gene

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

Protein Domains for CHIC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHIC2 Gene

GenScript: Design optimal peptide antigens:
  • BrX-like translocated in leukemia (CHIC2_HUMAN)

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

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

Human Phenotype Ontology for CHIC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHIC2 Gene

MGI Knock Outs for CHIC2:
  • Chic2 Chic2<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CHIC2 Gene

miRTarBase miRNAs that target CHIC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHIC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 3
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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:0005794 Golgi apparatus IEA --
GO:0005798 Golgi-associated vesicle IEA,IBA 21873635
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with CHIC2: view

Pathways & Interactions for CHIC2 Gene

PathCards logo

SuperPathways for CHIC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

mRNA/cDNA for CHIC2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHIC2

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

No ASD Table

Relevant External Links for CHIC2 Gene

GeneLoc Exon Structure for
CHIC2

Expression for CHIC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for CHIC2 Gene



Protein tissue co-expression partners for CHIC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHIC2

SOURCE GeneReport for Unigene cluster for CHIC2 Gene:

Hs.335393

Evidence on tissue expression from TISSUES for CHIC2 Gene

  • Skin(4.5)
  • Nervous system(4.4)
  • Blood(2.5)
  • Bone marrow(2.2)
  • Liver(2.1)
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
Oppossum
(Monodelphis domestica)
Mammalia CHIC2 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia CHIC2 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CHIC2 30 31
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CHIC2 30 31
  • 97.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Chic2 30 17 31
  • 95.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chic2 30
  • 95.76 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CHIC2 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CHIC2 30 31
  • 92.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CHIC2 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chic2 30
  • 87.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32435 30
Zebrafish
(Danio rerio)
Actinopterygii chic2 30 31
  • 78.62 (n)
OneToOne
zgc55670 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5938 30 31 32
  • 62.8 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001278 30
  • 61.01 (n)
Worm
(Caenorhabditis elegans)
Secernentea tag-266 31
  • 44 (a)
OneToMany
Species where no ortholog for CHIC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CHIC2: view image

Paralogs for CHIC2 Gene

Paralogs for CHIC2 Gene

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

  • CHIC2_HUMAN
  • D6RDW7_HUMAN
  • H0Y8H1_HUMAN
genes like me logo Genes that share paralogs with CHIC2: view

Variants for CHIC2 Gene

Additional dbSNP identifiers (rs#s) for CHIC2 Gene

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
CHIC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for CHIC2 Gene

Disorders for CHIC2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CHIC2 Gene - From: OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • aml
clivus meningioma
  • meningioma of the clivus
myeloid and lymphoid neoplasms associated with pdgfra rearrangement
  • myeloid and lymphoid neoplasms with pdgfra rearrangement
myeloid leukemia
  • leukaemia myelogenous
cebpa-associated familial acute myeloid leukemia
  • cebpa-dependent familial acute myeloid leukemia
- 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}.
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 23
  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
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Network-based prediction of protein interactions. (PMID: 30886144) Kovács IA … Barabási AL (Nature communications 2019) 3

Products for CHIC2 Gene

  • Signalway Proteins for CHIC2

Sources for CHIC2 Gene