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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Marfanoid habitus and intellectual disability Uncertain significance rs370537162 RCV000850444
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 38019471
Chronic Periodontitis Associate 26962152