GMCL2 (germ cell-less 2, spermatogenesis associated)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64396
Gene name Gene Name - the full gene name approved by the HGNC.
Germ cell-less 2, spermatogenesis associated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GMCL2
Synonyms (NCBI Gene) Gene synonyms aliases
GCL, GMCL1L, GMCL1P1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 p
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0007281 Process Germ cell development IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618629 19717 ENSG00000244234
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8NEA9
Protein name Germ cell-less protein-like 2 (Germ cell-less protein-like 1-like)
Protein function Possible function in spermatogenesis. Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). {ECO:0000250|UniPr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 98 → 208 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in testis. {ECO:0000269|PubMed:16201836}.
Sequence 
MGSSSSRVLGQPRRALAQQEQGARARGSARRPDTGDDAASYGFCYCPGSHKRKRSSGACR
YCDPDSHREEHEEEGDKQQPLLNTPARKKLRSTSKYIYQTLFLNGENSDIKICALGEEWR
LHKIYLCQSGYFSSMFSGSWKESSMNIIELEIPDQNIDVDALQVAFGSLYRDDVLIKPSR
VVAILAAACMLQLDGLIQQCGETMKETINVKTVCGYYTSVEIYGLDSVKKKCLEWLLNNL
MTHQNVKLFKELGINVMKQLIGSSNLFVMQVEMDVYTTLKKWMFLQLVPSWNGSLKQLLT
ETDVWFSKQRKDFEGMAFLETEPGKPFVSVFRHLRLQYIISDLASARIIEQDGIVPSEWL
SSVYKQQWFAMLRAEQDREVGPQEINKEDLEGNSMRCGRKLAKDGEYYWCWTGFNFGFDL
LVIYTNGYIIFKRNTLNQPRSGSVSLRPRRSIAFRLRLASFDSSGKLVCSRTTGYQILIL
KKDQEQVVMNLDSRFLTFPLYICCNFLYISPEKGIENNRHPENPEN
Sequence length 526
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 23029259