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

    Gene ID: 26511, updated on 6-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHIC2 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (54009789..54091879, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (57497038..57579148, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_012110.4NP_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:46134
      Erf4; Golgin subfamily A member 7/ERF4 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047450063.1XP_047306019.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X3

    2. XM_006714037.5XP_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, ENST00000510894.1
      Conserved Domains (1) summary
      pfam10256
      Location:4687
      Erf4; Golgin subfamily A member 7/ERF4 family
    3. XM_011534382.3XP_011532684.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X2

      Conserved Domains (1) summary
      pfam10256
      Location:4678
      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_054349676.1XP_054205651.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X3

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

      UniProtKB/TrEMBL
      H0Y8H1
    3. XM_054349675.1XP_054205650.1  cysteine-rich hydrophobic domain-containing protein 2 isoform X2