GMCL2 (germ cell-less 2, spermatogenesis associated)

Gene

• Entrez ID: 64396
• Gene name: Germ cell-less 2, spermatogenesis associated
• Gene symbol: GMCL2
• Synonyms (NCBI Gene): GCL, GMCL1L, GMCL1P1
• Chromosome: 5
• Chromosome location: 5q35.3
• 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 p

Gene ontology (GO)

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
GO:0016363	Component	Nuclear matrix	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0097602	Function	Cullin family protein binding	IPI	14528312

Other IDs

• MIM: 618629
• HGNC: 19717
• e!Ensembl: ENSG00000244234

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12081989, 12975258		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12081989, 12975258		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12081989, 12975258		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28257130		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	28115189, 9875712		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	21277635		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	30335521		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20180881		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	27631475		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31157715		★☆☆☆☆ Found in Text Mining only