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

Gene ID: 64396, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (178184505..178187371, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178734748..178737614, complement)
RS_2024_09 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_2024_08

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