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

Gene ID: 26511, updated on 2-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
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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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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

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