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    CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 79145, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CHCHD7provided by HGNC
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:28314
    See related
    Ensembl:ENSG00000170791 MIM:611238; AllianceGenome:HGNC:28314
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COX23
    Summary
    Predicted to be involved in mitochondrial respiratory chain complex assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 12.4), kidney (RPKM 11.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHCHD7 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (56211789..56218809)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (56588778..56595798)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (57124348..57131368)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:57054775-57055317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19210 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:57079228-57080427 Neighboring gene PLAG1 zinc finger Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27399 Neighboring gene MPRA-validated peak7026 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr8:57124219-57124444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:57126097-57126596 Neighboring gene MPRA-validated peak7027 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr8:57208438-57208939 Neighboring gene short chain dehydrogenase/reductase family 16C member 5 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:57302182-57303381 Neighboring gene short chain dehydrogenase/reductase family 16C member 6, pseudogene

    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. Genome-wide analysis of eukaryotic twin CX9C proteins. Cavallaro G. Mol Biosyst, 2010 Dec. PMID 20922212
    2. Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins. Banci L, et al. J Struct Biol, 2012 Oct. PMID 22842048
    3. CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. Asp J, et al. Genes Chromosomes Cancer, 2006 Sep. PMID 16736500
    4. Identification of ten loci associated with height highlights new biological pathways in human growth. Lettre G, et al. Nat Genet, 2008 May. PMID 18391950, Free PMC Article
    5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. Sovio U, et al. PLoS Genet, 2009 Mar. PMID 19266077, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular interactions guiding the protein recognition between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7.
      Title: Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. CHCHD7 is a newly identified member of a ubiquitously expressed multifamily of proteins containing a conserved (coiled coil 1)-(helix 1)-(coiled coil 2)-(helix 2) domain; it has not been previously associated with neoplasia.
      Title: CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.
    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
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    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

    • MGC2217, FLJ40966

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in mitochondrial respiratory chain complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 7
    Names
    COX23 cytochrome c oxidase assembly homolog

    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.

    mRNA and Protein(s)

    1. NM_001011667.3 → NP_001011667.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a

      See identical proteins and their annotated locations for NP_001011667.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 2. The encoded isoform (a) is shorter and has a distinct C-terminus compared to isoform b.
      Source sequence(s)
      AC107952, AK095922, AY070434, BX473986
      UniProtKB/TrEMBL
      E5RJ15
      Related
      ENSP00000430498.1, ENST00000523532.5

    2. NM_001011668.3 → NP_001011668.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform b

      See identical proteins and their annotated locations for NP_001011668.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (b).
      Source sequence(s)
      AC107952, AK095922, BC002546, BX473986
      Consensus CDS
      CCDS34895.1
      UniProtKB/TrEMBL
      J3KPV1
      Related
      ENSP00000306425.3, ENST00000303759.3

    3. NM_001011669.3 → NP_001011669.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c

      See identical proteins and their annotated locations for NP_001011669.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences compared to variant 2. The encoded isoform (c) is shorter and has distinct N- and C-termini compared to isoform b. Both variants 3 and 7 encode the same isoform (c).
      Source sequence(s)
      AC107952, AK095922, AY070434, BX473986
      Consensus CDS
      CCDS55232.1
      UniProtKB/TrEMBL
      E5RJ15
      Related
      ENSP00000428274.1, ENST00000518801.5

    4. NM_001011670.3 → NP_001011670.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform e

      See identical proteins and their annotated locations for NP_001011670.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences compared to variant 2. The encoded isoform (e) is shorter and has a distinct C-terminus compared to isoform b.
      Source sequence(s)
      AC107952, AK095922, AY070434, BX473986
      Consensus CDS
      CCDS55233.1
      UniProtKB/TrEMBL
      E5RJ15
      Related
      ENSP00000429635.1, ENST00000521831.5

    5. NM_001011671.3 → NP_001011671.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform f

      See identical proteins and their annotated locations for NP_001011671.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 2. The encoded isoform (f) has a shorter N-terminus compared to variant 2.
      Source sequence(s)
      AC107952, AK095922, BC002546, BX473986
      Consensus CDS
      CCDS34896.1
      UniProtKB/Swiss-Prot
      A8K223, E9PBH3, J3KNE9, Q7Z588, Q9BUK0
      UniProtKB/TrEMBL
      J3KPV1
      Related
      ENSP00000347469.3, ENST00000355315.8

    6. NM_001317858.2 → NP_001304787.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has multiple differences compared to variant 2. The encoded isoform (c) is shorter and has distinct N- and C-termini compared to isoform b. Both variants 3 and 7 encode the same isoform (c).
      Source sequence(s)
      AC107952, AK095922, BC002546, BI911444, HY130470
      Consensus CDS
      CCDS55232.1
      UniProtKB/TrEMBL
      E5RJ15
      Related
      ENSP00000430458.1, ENST00000521524.5

    7. NM_001317859.2 → NP_001304788.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) has multiple differences compared to variant 2. The encoded isoform (g) is shorter and has a distinct C-terminus compared to isoform b.
      Source sequence(s)
      AC107952, AK095922, BC002546, CN256918, HY130470
      Consensus CDS
      CCDS83294.1
      UniProtKB/TrEMBL
      E5RHM5, E5RJ08
      Related
      ENSP00000430882.1, ENST00000523061.5

    8. NM_024300.5 → NP_077276.2  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform d

      See identical proteins and their annotated locations for NP_077276.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region resulting in a frameshift compared to variant 2. The encoded isoform (d) is shorter and has a distinct N-terminus compared to isoform b.
      Source sequence(s)
      AC107952, AK095922, BC002546, BX473986
      Consensus CDS
      CCDS6166.2
      UniProtKB/TrEMBL
      J3KPV1
      Related
      ENSP00000428917.1, ENST00000523975.5

    RNA

    1. NR_133934.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) uses an alternate splice site in an internal exon and includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC107952, AK095922, BC002546, DA367603, DA431755

    2. NR_133935.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) uses an alternate splice site in an internal exon and includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC107952, AK095922, BC002546, DA431755

    3. NR_133936.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC107952, AK095922, BC002546, DA988698

    4. NR_133937.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) uses an alternate splice site in an internal exon and lacks an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC107952, AK095922, BC002546, BM695222, HY130470

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      56211789..56218809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      56588778..56595798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUK0.1 GenPept UniProtKB/Swiss-Prot:Q9BUK0

    Gene LinkOut

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

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