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

Gene ID: 79879, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 4.9), bone marrow (RPKM 4.2) and 24 other tissues See more
Orthologs
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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

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. 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)

Genotypes

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

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