Gene Gene information from NCBI Gene database.
Entrez ID 64395
Gene name Germ cell-less 1, spermatogenesis associated
Gene symbol GMCL1
Synonyms (NCBI Gene)
BTBD13GCLGCL1SPATA29
Chromosome 2
Chromosome location 2p13.3
Summary This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-le
miRNA miRNA information provided by mirtarbase database.
115
miRTarBase ID miRNA Experiments Reference
MIRT022371 hsa-miR-124-3p Microarray 18668037
MIRT679415 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT679414 hsa-miR-4639-3p HITS-CLIP 23824327
MIRT679413 hsa-miR-1304-3p HITS-CLIP 23824327
MIRT679412 hsa-miR-3135a HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21145461, 21516116, 25910212, 26871637, 27107012, 28514442, 31515488, 32296183, 32814053, 33961781
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618627 23843 ENSG00000087338
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96IK5
Protein name Germ cell-less protein-like 1 (Spermatogenesis-associated protein 29)
Protein function Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 98 208 BTB/POZ domain Domain
PF07707 BACK 213 301 BTB And C-terminal Kelch Domain
Sequence
MGSLSSRVLRQPRPALAQQAQGARAGGSARRPDTGDDAAGHGFCYCAGSHKRKRSSGSFC
YCHPDSETDEDEEEGDEQQRLLNTPRRKKLKSTSKYIYQTLFLNGENSDIKICALGEEWS
LHKIYLCQSGYFSSMFSGSWKESSMNIIELEIPDQNIDVEALQVAFGSLYRDDVLIKPSR
VVAILAAACLLQLDGLIQQCGETMKETV
NVKTVCGYYTSAGTYGLDSVKKKCLEWLLNNL
MTHQNVELFKELSINVMKQLIGSSNLFVMQVEMDIYTALKKWMFLQLVPSWNGSLKQLLT
E
TDVWFSKQRKDFEGMAFLETEQGKPFVSVFRHLRLQYIISDLASARIIEQDAVVPSEWL
SSVYKQQWFAMLRAEQDSEVGPQEINKEELEGNSMRCGRKLAKDGEYCWRWTGFNFGFDL
LVTYTNRYIIFKRNTLNQPCSGSVSLQPRRSIAFRLRLASFDSSGKLICSRTTGYQILTL
EKDQEQVVMNLDSRLLIFPLYICCNFLYISPEKKN
Sequence length 515
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 20432501
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 30544396 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma BEFREE 20432501
★☆☆☆☆
Found in Text Mining only
Globoid cell leukodystrophy Globoid Cell Leukodystrophy BEFREE 28115189, 9875712
★☆☆☆☆
Found in Text Mining only
Hypospadias Hypospadias Pubtator 32728162 Associate
★☆☆☆☆
Found in Text Mining only