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    CCDC134 coiled-coil domain containing 134 [ Homo sapiens (human) ]

    Gene ID: 79879, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC134provided by HGNC
    Official Full Name
    coiled-coil domain containing 134provided by HGNC
    Primary source
    HGNC:HGNC:26185
    See related
    Ensembl:ENSG00000100147 MIM:618788; AllianceGenome:HGNC:26185
    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
    OI22
    Summary
    Involved in regulation of ossification. Located in cytosol and intracellular membrane-bounded organelle. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 4.9), bone marrow (RPKM 4.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC134 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41800679..41832164)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42279285..42310775)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42196683..42228168)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene10 Neighboring gene meiotic double-stranded break formation protein 1 Neighboring gene RNA, U6atac small nuclear 22, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42195504-42196490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19136 Neighboring gene NANOG hESC enhancer GRCh37_chr22:42219786-42220287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42222133-42222639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42226556-42227096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42227097-42227636 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42228578-42229234 Neighboring gene SREBF2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231025-42231526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231527-42232026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42242468-42243268 Neighboring gene sterol regulatory element binding transcription factor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:42258655-42259155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42303627-42304294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42310379-42311304 Neighboring gene microRNA 33a Neighboring gene shisa family member 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. CCDC134 is down-regulated in gastric cancer and its silencing promotes cell migration and invasion of GES-1 and AGS cells via the MAPK pathway. Zhong J, et al. Mol Cell Biochem, 2013 Jan. PMID 23070808
    2. Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. Dubail J, et al. J Bone Miner Res, 2020 Aug. PMID 32181939
    3. miRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134. Huang Z, et al. Curr Gene Ther, 2023. PMID 36056852
    4. Cytokine-like molecule CCDC134 contributes to CD8⁺ T-cell effector functions in cancer immunotherapy. Huang J, et al. Cancer Res, 2014 Oct 15. PMID 25125657
    5. Ccdc134 deficiency impairs cerebellar development and motor coordination. Yin S, et al. Genes Brain Behav, 2021 Sep. PMID 34382738

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134.
      Title: miRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134.
    2. Ccdc134 deficiency impairs cerebellar development and motor coordination.
      Title: Ccdc134 deficiency impairs cerebellar development and motor coordination.
    3. Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
      Title: Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
    4. CCDC134 may also act as a novel regulator of human alteration/deficiency in activation 2a, and be involved in the p300-CBP-associated factor complex and affect its acetyltransferase activity
      Title: CCDC134 serves a crucial role in embryonic development.
    5. CCDC134 promotes cell proliferation through the JAK3-STAT5 pathway.
      Title: Cytokine-like molecule CCDC134 contributes to CD8⁺ T-cell effector functions in cancer immunotherapy.
    6. The attenuated expression of CCDC134 promoted the activation of Erk1/2 and JNK/SAPK, but had no effect on p38 in gastric cancer.
      Title: CCDC134 is down-regulated in gastric cancer and its silencing promotes cell migration and invasion of GES-1 and AGS cells via the MAPK pathway.
    7. CCDC134 might act as a novel regulator of hADA2a, and plays roles in the PCAF complex via hADA2a to affect its acetyltransferase activity and UV-induced DNA damage repair.
      Title: CCDC134 interacts with hADA2a and functions as a regulator of hADA2a in acetyltransferase activity, DNA damage-induced apoptosis and cell cycle arrest.
    8. These results clearly indicate that CCDC134 is a novel member of the secretory family and down-regulates the Raf-1/MEK/ERK and JNK/ SAPK pathways.
      Title: CCDC134, a novel secretory protein, inhibits activation of ERK and JNK, but not p38 MAPK.
    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

    Associated conditions

    Description Tests
    Osteogenesis imperfecta, IIA 22
    MedGen: C5676943 OMIM: 619795 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of coiled-coil domain containing 134 (CCDC134) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22349, MGC21013

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic liver development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ventricular system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 134

    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_068430.1 RefSeqGene

      Range
      5001..36486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304797.2 → NP_001291726.1  coiled-coil domain-containing protein 134 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks three alternate exons, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK299311, AL021453, CB240942, HY013338
      Consensus CDS
      CCDS77680.1
      UniProtKB/TrEMBL
      B0QY51, B4DRL0
      Related
      ENSP00000385803.3, ENST00000402061.7
      Conserved Domains (1) summary
      pfam15002
      Location:29 → 77
      ERK-JNK_inhib; ERK and JNK pathways, inhibitor

    2. NM_001382346.1 → NP_001369275.1  coiled-coil domain-containing protein 134 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AL021453
      Consensus CDS
      CCDS33654.1
      UniProtKB/Swiss-Prot
      Q9H6E4
      Conserved Domains (1) summary
      pfam15002
      Location:29 → 195
      ERK-JNK_inhib; ERK and JNK pathways, inhibitor

    3. NM_024821.5 → NP_079097.1  coiled-coil domain-containing protein 134 isoform 1 precursor

      See identical proteins and their annotated locations for NP_079097.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AL021453, BC017693, BX473493, CB240942
      Consensus CDS
      CCDS33654.1
      UniProtKB/Swiss-Prot
      Q9H6E4
      Related
      ENSP00000255784.5, ENST00000255784.6
      Conserved Domains (1) summary
      pfam15002
      Location:29 → 195
      ERK-JNK_inhib; ERK and JNK pathways, inhibitor

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41800679..41832164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42279285..42310775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6E4.1 GenPept UniProtKB/Swiss-Prot:Q9H6E4

    Gene LinkOut

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

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