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    CHIC2 cysteine rich hydrophobic domain 2 [ Homo sapiens (human) ]

    Gene ID: 26511, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CHIC2provided by HGNC
    Official Full Name
    cysteine rich hydrophobic domain 2provided by HGNC
    Primary source
    HGNC:HGNC:1935
    See related
    Ensembl:ENSG00000109220 MIM:604332; AllianceGenome:HGNC:1935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTL
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 2.4), gall bladder (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHIC2 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (54009789..54091879, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (57497038..57579148, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (54875956..54930772, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nucleic acid binding protein 2 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr4:54796254-54796418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54828360-54828888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54828889-54829416 Neighboring gene ribosomal protein L21 pseudogene 44 Neighboring gene VISTA enhancer hs687 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:54930180-54930680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15433 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:54932677-54933876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54959191-54959810 Neighboring gene mortality factor 4 like 2 pseudogene 1 Neighboring gene VISTA enhancer hs678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54966174-54966964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54966965-54967756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54967757-54968546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54969378-54970153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54970154-54970928 Neighboring gene small nucleolar RNA U13 Neighboring gene GS homeobox 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). Cools J, et al. Blood, 1999 Sep 1. PMID 10477709
    2. CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Pardanani A, et al. Blood, 2003 Nov 1. PMID 12842979
    3. Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations. Fink SR, et al. Leuk Res, 2009 Jun. PMID 19118897
    4. A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif. Cools J, et al. FEBS Lett, 2001 Mar 16. PMID 11257495
    5. RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. Adam MP, et al. , 1993. PMID 33661592

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated with eosinophilia
      Title: Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations.
    2. used fluorescence in situ hybridization to detect deletion of the CHIC2 locus at 4q12 as a surrogate for the FIP1L1-PDGFRA fusion and was observed in bone marrow cells for 3 of 5 patients with systemic mast cell disease associated with eosinophilia
      Title: CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC21173

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in Golgi-associated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cysteine-rich hydrophobic domain-containing protein 2
    Names
    BRX-like translocated in leukemia
    cystein-rich hydrophobic domain 2
    cysteine-rich hydrophobic domain 2 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028924.1 RefSeqGene

      Range
      5044..59860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012110.4 → NP_036242.1  cysteine-rich hydrophobic domain-containing protein 2

      See identical proteins and their annotated locations for NP_036242.1

      Status: REVIEWED

      Source sequence(s)
      AC110792, BC034691, DA746525
      Consensus CDS
      CCDS3493.1
      UniProtKB/Swiss-Prot
      B2R639, Q9UKJ5
      UniProtKB/TrEMBL
      D6RDW7
      Related
      ENSP00000263921.3, ENST00000263921.8
      Conserved Domains (1) summary
      pfam10256
      Location:46 → 134
      Erf4; Golgin subfamily A member 7/ERF4 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      54009789..54091879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047450063.1 → XP_047306019.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X3

    2. XM_006714037.5 → XP_006714100.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006714100.1

      UniProtKB/TrEMBL
      H0Y8H1
      Related
      ENSP00000421032.1, ENST00000510894.2
      Conserved Domains (1) summary
      pfam10256
      Location:46 → 87
      Erf4; Golgin subfamily A member 7/ERF4 family

    3. XM_011534382.3 → XP_011532684.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X2

      Conserved Domains (1) summary
      pfam10256
      Location:46 → 78
      Erf4; Golgin subfamily A member 7/ERF4 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      57497038..57579148 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349676.1 → XP_054205651.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X3

    2. XM_054349674.1 → XP_054205649.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X1

    3. XM_054349675.1 → XP_054205650.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKJ5.1 GenPept UniProtKB/Swiss-Prot:Q9UKJ5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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