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

    Gene ID: 91057, updated on 2-Nov-2024

    Summary

    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
    Summary
    Involved in spermatogenesis. Located in sperm midpiece. Implicated in spermatogenic failure 76. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 12.6), colon (RPKM 2.4) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CCDC34 in Genome Data Viewer
    Location:
    11p14.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (27338512..27363215, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (27479013..27503719, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

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

    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.

    mRNA and Protein(s)

    1. NM_030771.2NP_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:61321
      DUF4207; Domain of unknown function (DUF4207)
    2. NM_080654.3NP_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:60202
      DUF4670; Domain of unknown function (DUF4670)

    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_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)