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    GMCL2 germ cell-less 2, spermatogenesis associated [ Homo sapiens (human) ]

    Gene ID: 64396, updated on 17-Jun-2024

    Summary

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    Official Symbol
    GMCL2provided by HGNC
    Official Full Name
    germ cell-less 2, spermatogenesis associatedprovided by HGNC
    Primary source
    HGNC:HGNC:19717
    See related
    Ensembl:ENSG00000244234 MIM:618629; AllianceGenome:HGNC:19717
    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
    GCL; GMCL1L; GMCL1P1
    Summary
    This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008]
    Orthologs
    all
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    Genomic context

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    See GMCL2 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (178184505..178187371, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178734748..178737614, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (177611506..177614372, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177577953-177578454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177590971-177591472 Neighboring gene required for meiotic nuclear division 5 homolog B Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:177607056-177607598 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177607599-177608139 Neighboring gene NAD(P)HX epimerase pseudogene Neighboring gene NHP2 ribonucleoprotein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:177659427-177659965 Neighboring gene uncharacterized LOC112267937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23743 Neighboring gene heterogeneous nuclear ribonucleoprotein A/B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177664463-177665136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177665137-177665810 Neighboring gene 5-phosphohydroxy-L-lysine phospho-lyase Neighboring gene collagen type XXIII alpha 1 chain

    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. A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. Padyukov L, et al. Ann Rheum Dis, 2011 Feb. PMID 21156761, Free PMC Article
    2. Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. Furukawa M, et al. Nat Cell Biol, 2003 Nov. PMID 14528312
    3. Emergence of young human genes after a burst of retroposition in primates. Marques AC, et al. PLoS Biol, 2005 Nov. PMID 16201836, Free PMC Article
    4. Novel Cul3 binding proteins function to remodel E3 ligase complexes. Wimuttisuk W, et al. BMC Cell Biol, 2014 Jul 10. PMID 25011449, Free PMC Article
    5. Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. Tao WA, et al. Nat Methods, 2005 Aug. PMID 16094384

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.
    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    germ cell-less protein-like 2
    Names
    germ cell-less protein-like 1-like
    germ cell-less related
    germ cell-less, spermatogenesis associated 2
    putative germ cell-less protein-like 1-like

    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_001358008.2 → NP_001344937.1  germ cell-less protein-like 2

      Status: VALIDATED

      Source sequence(s)
      AC136632, BC033886
      Consensus CDS
      CCDS4433.1
      UniProtKB/Swiss-Prot
      B2RDW6, Q2VIQ8, Q8NEA9, Q8TC88, Q8TC89
      Related
      ENSP00000497178.1, ENST00000463439.3
      Conserved Domains (2) summary
      smart00875
      Location:213 → 283
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:98 → 208
      BTB; BTB/POZ domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      178184505..178187371 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      178734748..178737614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005648.1: Suppressed sequence

      Description
      NG_005648.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEA9.2 GenPept UniProtKB/Swiss-Prot:Q8NEA9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials