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    BEGAIN brain enriched guanylate kinase associated [ Homo sapiens (human) ]

    Gene ID: 57596, updated on 5-Mar-2024

    Summary

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    Official Symbol
    BEGAINprovided by HGNC
    Official Full Name
    brain enriched guanylate kinase associatedprovided by HGNC
    Primary source
    HGNC:HGNC:24163
    See related
    Ensembl:ENSG00000183092 MIM:618597; AllianceGenome:HGNC:24163
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in regulation of postsynaptic neurotransmitter receptor activity. Predicted to act upstream of or within evoked excitatory postsynaptic potential. Predicted to be located in dendrite; nucleus; and presynapse. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 1.4), adrenal (RPKM 0.4) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BEGAIN in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100537147..100587417, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94770948..94821230, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (101003484..101053754, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene WD repeat domain 25 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100966138-100966638 Neighboring gene RN7SK pseudogene 92 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100989077-100989737 Neighboring gene uncharacterized LOC124903382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9041 Neighboring gene uncharacterized LOC124903384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101021873-101022628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101022629-101023385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101069891-101070390 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:101081529-101081726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101102218-101103218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101105157-101105658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101105659-101106158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101111512-101112012 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:101126859-101128058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101132935-101133436 Neighboring gene long intergenic non-protein coding RNA 523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101139493-101140240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101145673-101146266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101146861-101147454 Neighboring gene uncharacterized LOC105370668

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease. Offenbacher S, et al. Hum Mol Genet, 2016 May 15. PMID 26962152, Free PMC Article
    2. Astrocytic abnormalities and global DNA methylation patterns in depression and suicide. Nagy C, et al. Mol Psychiatry, 2015 Mar. PMID 24662927, Free PMC Article
    3. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et al. Nat Genet, 2010 Dec. PMID 21102462, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. Beausoleil SA, et al. Nat Biotechnol, 2006 Oct. PMID 16964243

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism.
      Title: Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism.
    2. With the exception of associations of BEGAIN with severe and UBE3D with moderate chronic periodontitis (CP) , no other loci were associated with CP in ARIC or aggressive periodontitis in the German sample.
      Title: Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease.
    3. This study found in BEGAIN was most significant and also showed significant correlations with gene expression.
      Title: Astrocytic abnormalities and global DNA methylation patterns in depression and suicide.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1446

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of postsynaptic neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    brain-enriched guanylate kinase-associated protein
    Names
    brain-enriched guanylate kinase-associated homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159531.2 → NP_001153003.1  brain-enriched guanylate kinase-associated protein isoform 1

      See identical proteins and their annotated locations for NP_001153003.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variants 2-5, encodes isoform 1.
      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS9962.1
      UniProtKB/Swiss-Prot
      Q9BUH8, Q9NPU3, Q9P282
      Related
      ENSP00000450722.2, ENST00000557378.6
      Conserved Domains (1) summary
      COG1196
      Location:2 → 124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. NM_001385082.1 → NP_001372011.1  brain-enriched guanylate kinase-associated protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 2, 4, and 5, encodes isoform 1.
      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS9962.1
      UniProtKB/Swiss-Prot
      Q9BUH8, Q9NPU3, Q9P282
      Related
      ENSP00000452157.2, ENST00000556188.6
      Conserved Domains (1) summary
      COG1196
      Location:2 → 124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. NM_001385083.1 → NP_001372012.1  brain-enriched guanylate kinase-associated protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform 1.
      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS9962.1
      UniProtKB/Swiss-Prot
      Q9BUH8, Q9NPU3, Q9P282
      Conserved Domains (1) summary
      COG1196
      Location:2 → 124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    4. NM_001385084.1 → NP_001372013.1  brain-enriched guanylate kinase-associated protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform 1.
      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS9962.1
      UniProtKB/Swiss-Prot
      Q9BUH8, Q9NPU3, Q9P282
      Conserved Domains (1) summary
      COG1196
      Location:2 → 124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    5. NM_001385085.1 → NP_001372014.1  brain-enriched guanylate kinase-associated protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) encodes the longest isoform (2).
      Source sequence(s)
      AL163974, AL845552
      Conserved Domains (1) summary
      COG1196
      Location:55 → 180
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    6. NM_001385086.1 → NP_001372015.1  brain-enriched guanylate kinase-associated protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:49 → 174
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    7. NM_001385087.1 → NP_001372016.1  brain-enriched guanylate kinase-associated protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:48 → 173
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    8. NM_001385088.1 → NP_001372017.1  brain-enriched guanylate kinase-associated protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS91932.1
      UniProtKB/TrEMBL
      A0A1B0GTT1
      Related
      ENSP00000489826.1, ENST00000637646.1
      Conserved Domains (1) summary
      COG1196
      Location:36 → 161
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    9. NM_001385089.1 → NP_001372018.1  brain-enriched guanylate kinase-associated protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL163974, AL845552
      Consensus CDS
      CCDS91933.1
      UniProtKB/TrEMBL
      G3V3A2
      Related
      ENSP00000451125.2, ENST00000554140.3
      Conserved Domains (1) summary
      COG1196
      Location:21 → 143
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    10. NM_001385090.1 → NP_001372019.1  brain-enriched guanylate kinase-associated protein isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:5 → 137
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    11. NM_001385091.1 → NP_001372020.1  brain-enriched guanylate kinase-associated protein isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:14 → 136
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    12. NM_001385092.1 → NP_001372021.1  brain-enriched guanylate kinase-associated protein isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:5 → 137
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    13. NM_001385093.1 → NP_001372022.1  brain-enriched guanylate kinase-associated protein isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL163974, AL845552
      Conserved Domains (1) summary
      COG1196
      Location:21 → 134
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    14. NM_001385094.1 → NP_001372023.1  brain-enriched guanylate kinase-associated protein isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:5 → 128
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    15. NM_001385095.1 → NP_001372024.1  brain-enriched guanylate kinase-associated protein isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:15 → 140
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    16. NM_001385096.1 → NP_001372025.1  brain-enriched guanylate kinase-associated protein isoform 13

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variants 18-21, encodes isoform 13.
      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:2 → 115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    17. NM_001385097.1 → NP_001372026.1  brain-enriched guanylate kinase-associated protein isoform 13

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18), as well as variants 17 and 19-21, encodes isoform 13.
      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:2 → 115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    18. NM_001385098.1 → NP_001372027.1  brain-enriched guanylate kinase-associated protein isoform 13

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19), as well as variants 17, 18, 20, and 21, encodes isoform 13.
      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:2 → 115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    19. NM_001385099.1 → NP_001372028.1  brain-enriched guanylate kinase-associated protein isoform 13

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20), as well as variants 17-19 and 21, encodes isoform 13.
      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:2 → 115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    20. NM_001385100.1 → NP_001372029.1  brain-enriched guanylate kinase-associated protein isoform 13

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21), as well as variants 17-20, encodes isoform 13.
      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:2 → 115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    21. NM_001385101.1 → NP_001372030.1  brain-enriched guanylate kinase-associated protein isoform 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22), as well as variants 23-25, encodes isoform 14.
      Source sequence(s)
      AL163974, AL845552
      Consensus CDS
      CCDS91931.1
      UniProtKB/TrEMBL
      G3V3R5, G3V600

    22. NM_001385102.1 → NP_001372031.1  brain-enriched guanylate kinase-associated protein isoform 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23), as well as variants 22, 24, and 25, encodes isoform 14.
      Source sequence(s)
      AL163974, AL845552
      Consensus CDS
      CCDS91931.1
      UniProtKB/TrEMBL
      G3V3R5, G3V600

    23. NM_001385103.1 → NP_001372032.1  brain-enriched guanylate kinase-associated protein isoform 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24), as well as variants 22, 23, and 25, encodes isoform 14.
      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS91931.1
      UniProtKB/TrEMBL
      G3V3R5, G3V600
      Related
      ENSP00000452607.2, ENST00000554356.6

    24. NM_001385104.1 → NP_001372033.1  brain-enriched guanylate kinase-associated protein isoform 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25), as well as variants 22-24, encodes isoform 14.
      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS91931.1
      UniProtKB/TrEMBL
      G3V3R5, G3V600

    25. NM_020836.4 → NP_065887.1  brain-enriched guanylate kinase-associated protein isoform 1

      See identical proteins and their annotated locations for NP_065887.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variants 1 and 3-5, encodes isoform 1.
      Source sequence(s)
      AL845552
      Consensus CDS
      CCDS9962.1
      UniProtKB/Swiss-Prot
      Q9BUH8, Q9NPU3, Q9P282
      Related
      ENSP00000347301.2, ENST00000355173.7
      Conserved Domains (1) summary
      COG1196
      Location:2 → 124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. NR_169570.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL845552

    2. NR_169571.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL845552

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      100537147..100587417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449671.2 → XP_024305439.2  brain-enriched guanylate kinase-associated protein isoform X2

    2. XM_024449670.2 → XP_024305438.1  brain-enriched guanylate kinase-associated protein isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTT1
      Conserved Domains (1) summary
      COG1196
      Location:36 → 161
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. XM_047431629.1 → XP_047287585.1  brain-enriched guanylate kinase-associated protein isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTT1

    4. XM_047431630.1 → XP_047287586.1  brain-enriched guanylate kinase-associated protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      94770948..94821230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376494.1 → XP_054232469.1  brain-enriched guanylate kinase-associated protein isoform X2

    2. XM_054376492.1 → XP_054232467.1  brain-enriched guanylate kinase-associated protein isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTT1

    3. XM_054376493.1 → XP_054232468.1  brain-enriched guanylate kinase-associated protein isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTT1

    4. XM_054376495.1 → XP_054232470.1  brain-enriched guanylate kinase-associated protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUH8.1 GenPept UniProtKB/Swiss-Prot:Q9BUH8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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