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

    Gene ID: 57596, updated on 27-Nov-2024

    Summary

    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 enable kinase activity. 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, Nov 2024]
    Expression
    Broad expression in brain (RPKM 1.4), adrenal (RPKM 0.4) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BEGAIN in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100537147..100587417, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94770948..94821230, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 evoked excitatory postsynaptic potential 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
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001159531.2NP_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:2124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    2. NM_001385082.1NP_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:2124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    3. NM_001385083.1NP_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:2124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    4. NM_001385084.1NP_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:2124
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    5. NM_001385085.1NP_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:55180
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    6. NM_001385086.1NP_001372015.1  brain-enriched guanylate kinase-associated protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:49174
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    7. NM_001385087.1NP_001372016.1  brain-enriched guanylate kinase-associated protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:48173
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    8. NM_001385088.1NP_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:36161
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    9. NM_001385089.1NP_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:21143
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    10. NM_001385090.1NP_001372019.1  brain-enriched guanylate kinase-associated protein isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:5137
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    11. NM_001385091.1NP_001372020.1  brain-enriched guanylate kinase-associated protein isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:14136
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    12. NM_001385092.1NP_001372021.1  brain-enriched guanylate kinase-associated protein isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:5137
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    13. NM_001385093.1NP_001372022.1  brain-enriched guanylate kinase-associated protein isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL163974, AL845552
      Conserved Domains (1) summary
      COG1196
      Location:21134
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    14. NM_001385094.1NP_001372023.1  brain-enriched guanylate kinase-associated protein isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:5128
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    15. NM_001385095.1NP_001372024.1  brain-enriched guanylate kinase-associated protein isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL845552
      Conserved Domains (1) summary
      COG1196
      Location:15140
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    16. NM_001385096.1NP_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:2115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    17. NM_001385097.1NP_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:2115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    18. NM_001385098.1NP_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:2115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    19. NM_001385099.1NP_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:2115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    20. NM_001385100.1NP_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:2115
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    21. NM_001385101.1NP_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_001385102.1NP_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_001385103.1NP_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_001385104.1NP_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_020836.4NP_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:2124
      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_2024_08

    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_024449671.2XP_024305439.2  brain-enriched guanylate kinase-associated protein isoform X2

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

      UniProtKB/TrEMBL
      A0A1B0GTT1
      Conserved Domains (1) summary
      COG1196
      Location:36161
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    3. XM_047431629.1XP_047287585.1  brain-enriched guanylate kinase-associated protein isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTT1
    4. XM_047431630.1XP_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_054376494.1XP_054232469.1  brain-enriched guanylate kinase-associated protein isoform X2

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

      UniProtKB/TrEMBL
      A0A1B0GTT1
    3. XM_054376493.1XP_054232468.1  brain-enriched guanylate kinase-associated protein isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTT1
    4. XM_054376495.1XP_054232470.1  brain-enriched guanylate kinase-associated protein isoform X3