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    CCDC34 coiled-coil domain containing 34 [ Homo sapiens (human) ]

    Gene ID: 91057, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC34provided by HGNC
    Official Full Name
    coiled-coil domain containing 34provided by HGNC
    Primary source
    HGNC:HGNC:25079
    See related
    Ensembl:ENSG00000109881 MIM:612324; AllianceGenome:HGNC:25079
    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
    L15; RAMA3; SPGF76; NY-REN-41
    Expression
    Broad expression in testis (RPKM 12.6), colon (RPKM 2.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC34 in Genome Data Viewer
    Location:
    11p14.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (27338512..27363215, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (27479013..27503719, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (27360059..27384762, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BBOX1 antisense RNA 1 Neighboring gene 11p14.2 proximal LINE-mediated recombination region Neighboring gene uncharacterized LOC105376600 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:27264164-27264402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:27269778-27270534 Neighboring gene uncharacterized LOC105376601 Neighboring gene Sharpr-MPRA regulatory region 9357 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:27340270-27341469 Neighboring gene Sharpr-MPRA regulatory region 11938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:27384156-27385023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4543 Neighboring gene leucine rich repeat containing G protein-coupled receptor 4 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:27462218-27462830 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:27465211-27465953 Neighboring gene Sharpr-MPRA regulatory region 4633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:27483166-27483666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3211 Neighboring gene LGR4 antisense RNA 1 Neighboring gene ribosomal protein L37a pseudogene 7

    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
    • 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. High Expression of CCDC34 Is Associated with Poor Survival in Cervical Cancer Patients. Liu LB, et al. Med Sci Monit, 2018 Nov 20. PMID 30458457, Free PMC Article
    2. Overexpression of Coiled-Coil Domain-Containing Protein 34 (CCDC34) and its Correlation with Angiogenesis in Esophageal Squamous Cell Carcinoma. Hu DD, et al. Med Sci Monit, 2018 Feb 3. PMID 29397026, Free PMC Article
    3. Expression of Coiled-Coil Domain Containing 34 (CCDC34) and its Prognostic Significance in Pancreatic Adenocarcinoma. Qi W, et al. Med Sci Monit, 2017 Dec 19. PMID 29257799, Free PMC Article
    4. Overexpression of CCDC34 in colorectal cancer and its involvement in tumor growth, apoptosis and invasion. Geng W, et al. Mol Med Rep, 2018 Jan. PMID 29115580, Free PMC Article
    5. CCDC34 is up-regulated in bladder cancer and regulates bladder cancer cell proliferation, apoptosis and migration. Gong Y, et al. Oncotarget, 2015 Sep 22. PMID 26312564, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
      Title: Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
    2. RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular Carcinoma.
      Title: RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular Carcinoma.
    3. Immunochemical staining data showed that CCDC34 expression was dramatically higher in CC than in adjacent normal tissues (71.6 vs. 20.9%; P<0.001). High expression of CCDC34 was strongly associated with histological grade (P=0.022), lymph node metastasis (P=0.044), and FIGO stage (P=0.002).
      Title: High Expression of CCDC34 Is Associated with Poor Survival in Cervical Cancer Patients.
    4. CCDC34 is overexpressed in esophageal squamous cell carcinoma.
      Title: Overexpression of Coiled-Coil Domain-Containing Protein 34 (CCDC34) and its Correlation with Angiogenesis in Esophageal Squamous Cell Carcinoma.
    5. Immunohistochemistry showed that expression levels of CCDC34 protein in pancreatic adenocarcinoma were significantly increased, compared with normal pancreas (P=0.000). Patients with pancreatic adenocarcinoma with increased expression of tissue CCDC34 had significantly reduced OS compared with patients with low expression (P=0.000).
      Title: Expression of Coiled-Coil Domain Containing 34 (CCDC34) and its Prognostic Significance in Pancreatic Adenocarcinoma.
    6. the present study demonstrated increased expression of CCDC34 protein in CRC tissues was associated with reduced apoptosis and increased metastasis in CRC cell line.
      Title: Overexpression of CCDC34 in colorectal cancer and its involvement in tumor growth, apoptosis and invasion.
    7. CCDC34 is up-regulated in bladder cancer and regulates bladder cancer cell proliferation, apoptosis and migration.
      Title: CCDC34 is up-regulated in bladder cancer and regulates bladder cancer cell proliferation, apoptosis and migration.
    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
    Spermatogenic failure 76
    MedGen: C5774236 OMIM: 620084 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in sperm midpiece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 34
    Names
    NY-REN-41 antigen
    renal carcinoma antigen NY-REN-41

    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_030771.2 → NP_110398.1  coiled-coil domain-containing protein 34 isoform 1

      See identical proteins and their annotated locations for NP_110398.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC090597
      Consensus CDS
      CCDS31448.1
      UniProtKB/Swiss-Prot
      B2R8G2, Q8IX69, Q96HJ3, Q9H2A6, Q9Y599
      Related
      ENSP00000330240.5, ENST00000328697.11
      Conserved Domains (1) summary
      pfam13904
      Location:61 → 321
      DUF4207; Domain of unknown function (DUF4207)

    2. NM_080654.3 → NP_542385.1  coiled-coil domain-containing protein 34 isoform 2

      See identical proteins and their annotated locations for NP_542385.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several 3' coding exons, compared to variant 1, resulting in the shorter isoform (2).
      Source sequence(s)
      AC090597, AL555720, BC008496
      Consensus CDS
      CCDS7863.1
      UniProtKB/Swiss-Prot
      Q96HJ3
      Related
      ENSP00000321563.6, ENST00000317945.6
      Conserved Domains (1) summary
      cl25548
      Location:60 → 202
      DUF4670; Domain of unknown function (DUF4670)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      27338512..27363215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      27479013..27503719 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HJ3.2 GenPept UniProtKB/Swiss-Prot:Q96HJ3

    Gene LinkOut

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

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