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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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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

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