Gene Gene information from NCBI Gene database.
Entrez ID 55632
Gene name G2/M-phase specific E3 ubiquitin protein ligase
Gene symbol G2E3
Synonyms (NCBI Gene)
KIAA1333PHF7B
Chromosome 14
Chromosome location 14q12
miRNA miRNA information provided by mirtarbase database.
362
miRTarBase ID miRNA Experiments Reference
MIRT017084 hsa-miR-335-5p Microarray 18185580
MIRT024882 hsa-miR-215-5p Microarray 19074876
MIRT026908 hsa-miR-192-5p Microarray 19074876
MIRT052552 hsa-let-7a-5p CLASH 23622248
MIRT045701 hsa-miR-125a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611299 20338 ENSG00000092140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L622
Protein name G2/M phase-specific E3 ubiquitin-protein ligase (EC 2.3.2.26) (G2/M phase-specific HECT-type E3 ubiquitin transferase)
Protein function E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptoti
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13771 zf-HC5HC2H 41 128 Domain
PF00632 HECT 409 696 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain, liver, kidney, testes and ovary. {ECO:0000269|PubMed:10718198}.
Sequence
MNESKPGDSQNLACVFCRKHDDCPNKYGEKKTKEKWNLTVHYYCLLMSSGIWQRGKEEEG
VYGFLIEDIRKEVNRASKLKCCVCKKNGASIGCVAPRCKRSYHFPCGLQRECIFQFTGNF
ASFCWDHR
PVQIITSNNYRESLPCTICLEFIEPIPSYNILRSPCCKNAWFHRDCLQVQAI
NAGVFFFRCTICNNSDIFQKEMLRMGIHIPEKDASWELEENAYQELLQHYERCDVRRCRC
KEGRDYNAPDSKWEIKRCQCCGSSGTHLACSSLRSWEQNWECLECRGIIYNSGEFQKAKK
HVLPNSNNVGITDCLLEESSPKLPRQSPGSQSKDLLRQGSKFRRNVSTLLIELGFQIKKK
TKRLYINKANIWNSALDAFRNRNFNPSYAIEVAYVIENDNFGSEHPGSKQEFLSLLMQHL
ENSSLFEGSLSKNLSLNSQALKENLYYEAGKMLAISLVHGGPSPGFFSKTLFNCLVYGPE
NTQPILDDVSDFDVAQIIIRINTATTVADLKSIINECYNYLELIGCLRLITTLSDKYMLV
KDILGYHVIQRVHTPFESFKQGLKTLGVLEKIQAYPEAFCSILCHKPESLSAKILSELFT
VHTLPDVKALGFWNSYLQAVEDGKSTTTMEDILIFATGCSSIPPAGFKPTPSIECLHVDF
PVGNKCNNCLAIPITNTYKEFQENMDFTIRNTLRLE
KEESSHYIGH
Sequence length 706
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Amyotrophic Lateral Sclerosis Associate 33541344
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Associate 36517818
★☆☆☆☆
Found in Text Mining only
Death Associate 36517818
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Associate 37979250
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasm Metastasis Associate 36517818
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 25593194, 36517818
★☆☆☆☆
Found in Text Mining only