Gene Gene information from NCBI Gene database.
Entrez ID 57596
Gene name Brain enriched guanylate kinase associated
Gene symbol BEGAIN
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q32.2
miRNA miRNA information provided by mirtarbase database.
42
miRTarBase ID miRNA Experiments Reference
MIRT820659 hsa-let-7a CLIP-seq
MIRT820660 hsa-let-7b CLIP-seq
MIRT820661 hsa-let-7c CLIP-seq
MIRT820662 hsa-let-7d CLIP-seq
MIRT820663 hsa-let-7e CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0016020 Component Membrane IEA
GO:0045202 Component Synapse IBA
GO:0098794 Component Postsynapse IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618597 24163 ENSG00000183092
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUH8
Protein name Brain-enriched guanylate kinase-associated protein
Protein function May sustain the structure of the postsynaptic density (PSD).
Family and domains
Sequence
MEKLSALQEQKGELRKRLSYTTHKLEKLETEFDSTRHYLEIELRRAQEELEKVTEKLRRI
QSNYMALQRINQELEDKLYRMGQHYEEEKRALSHEIVALNSHLLEAKVTIDKLSEDNELY
RKDCNLAAQLLQCSQTYGRVHKVSELPSDFQERVSLHMEKHGCSLPSPLCHPAYADSVPT
CVIAKVLEKPDPASLSSRLSDASARDLAFCDGVEKPGPRPPYKGDIYCSDTALYCPEERR
RDRRPSVDAPVTDVGFLRAQNSTDSAAEEEEEAEAAAFPAGFQHEAFPSYAGSLPTSSSY
SSFSATSEEKEHAQASTLTASQQAIYLNSRDELFDRKPPATTYEGSPRFAKATAAVAAPL
EAEVAPGFGRTMSPYPAETFRFPASPGPQQALMPPNLWSLRAKPGTARLPGEDMRGQWRP
LSVEDIGAYSYPVSAAGRASPCSFSERYYGGAGGSPGKKADGRASPLYASYKADSFSEGD
DLSQGHLAEPCFLRAGGDLSLSPGRSADPLPGYAPSEGGDGDRLGVQLCGTASSPEPEQG
SRDSLEPSSMEASPEMHPAARLSPQQAFPRTGGSGLSRKDSLTKAQLYGTLLN
Sequence length 593
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
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THYROID CANCER, PAPILLARY CTD
★★☆☆☆
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
Aggressive Periodontitis Aggressive Periodontitis BEFREE 26962152
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 38019471 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis BEFREE 26962152
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis Pubtator 26962152 Associate
★☆☆☆☆
Found in Text Mining only
Familial Nonmedullary Thyroid Cancer Thyroid cancer CTD_human_DG 28030816
★☆☆☆☆
Found in Text Mining only
Nonmedullary Thyroid Carcinoma Nonmedullary thyroid carcinoma CTD_human_DG 28030816
★☆☆☆☆
Found in Text Mining only
Papillary thyroid carcinoma Papillary thyroid carcinoma CTD_human_DG 28030816
★☆☆☆☆
Found in Text Mining only