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Aliases for BEGAIN Gene

Aliases for BEGAIN Gene

  • Brain Enriched Guanylate Kinase Associated 2 3 5
  • Brain-Enriched Guanylate Kinase-Associated Homolog (Rat) 2
  • Brain-Enriched Guanylate Kinase-Associated 2
  • KIAA1446 4

External Ids for BEGAIN Gene

Previous GeneCards Identifiers for BEGAIN Gene

  • GC14M100074
  • GC14M101003
  • GC14M081184

Summaries for BEGAIN Gene

GeneCards Summary for BEGAIN Gene

BEGAIN (Brain Enriched Guanylate Kinase Associated) is a Protein Coding gene. Among its related pathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include kinase activity. An important paralog of this gene is TJAP1.

UniProtKB/Swiss-Prot for BEGAIN Gene

  • May sustain the structure of the postsynaptic density (PSD).

Gene Wiki entry for BEGAIN Gene

Additional gene information for BEGAIN Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BEGAIN Gene

Genomics for BEGAIN Gene

GeneHancer (GH) Regulatory Elements for BEGAIN Gene

Promoters and enhancers for BEGAIN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I100565 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 569.7 +18.7 18718 5.6 KLF17 RFX5 ZEB1 ZNF335 GLIS2 EGR1 SCRT2 RCOR1 EGR2 SP3 BEGAIN ENSG00000259031
GH14I100585 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 550.8 +0.6 648 1.7 SIN3A GLIS2 ELK1 KLF7 SP3 REST SMARCB1 ZNF592 GLIS1 SP7 BEGAIN ENSG00000259031
GH14I100546 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 66.2 +40.1 40097 3.6 PKNOX1 ATF1 SIN3A RAD21 SCRT2 ZNF143 SMARCA5 SMARCC1 USF2 ELF1 BEGAIN GC14P103293 ENSG00000259031
GH14I100553 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 45.5 +31.4 31420 4.6 HDAC1 PKNOX1 ATF1 KLF17 MZF1 EGR1 ATF7 CREM EGR2 CEBPB BEGAIN WARS WDR25 ENSG00000259031
GH14I100532 Enhancer 1.1 Ensembl ENCODE dbSUPER 56.5 +53.6 53610 2.7 ZNF449 MAX ZIC2 RAD21 ZFHX2 POLR2A EGR1 VEZF1 SCRT2 HNF4G BEGAIN GC14P103293 GC14M100431 RN7SKP92
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BEGAIN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BEGAIN gene promoter:

Genomic Locations for BEGAIN Gene

Genomic Locations for BEGAIN Gene
chr14:100,537,147-100,587,413
(GRCh38/hg38)
Size:
50,267 bases
Orientation:
Minus strand
chr14:101,003,484-101,053,750
(GRCh37/hg19)

Genomic View for BEGAIN Gene

Genes around BEGAIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEGAIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEGAIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEGAIN Gene

Proteins for BEGAIN Gene

  • Protein details for BEGAIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUH8-BEGIN_HUMAN
    Recommended name:
    Brain-enriched guanylate kinase-associated protein
    Protein Accession:
    Q9BUH8
    Secondary Accessions:
    • Q9NPU3
    • Q9P282

    Protein attributes for BEGAIN Gene

    Size:
    593 amino acids
    Molecular mass:
    64803 Da
    Quaternary structure:
    • Interacts with DLG4 and DLGAP1 and forms a ternary complex.
    SequenceCaution:
    • Sequence=BAA95970.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for BEGAIN Gene

Post-translational modifications for BEGAIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BEGAIN Gene

Domains & Families for BEGAIN Gene

Gene Families for BEGAIN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BEGAIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BEGAIN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BEGAIN: view

No data available for UniProtKB/Swiss-Prot for BEGAIN Gene

Function for BEGAIN Gene

Molecular function for BEGAIN Gene

UniProtKB/Swiss-Prot Function:
May sustain the structure of the postsynaptic density (PSD).

Phenotypes From GWAS Catalog for BEGAIN Gene

Gene Ontology (GO) - Molecular Function for BEGAIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BEGAIN: view
genes like me logo Genes that share phenotypes with BEGAIN: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BEGAIN Gene

Localization for BEGAIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEGAIN Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BEGAIN gene
Compartment Confidence
nucleus 4
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BEGAIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with BEGAIN: view

Pathways & Interactions for BEGAIN Gene

genes like me logo Genes that share pathways with BEGAIN: view

Pathways by source for BEGAIN Gene

Gene Ontology (GO) - Biological Process for BEGAIN Gene

None

No data available for SIGNOR curated interactions for BEGAIN Gene

Drugs & Compounds for BEGAIN Gene

No Compound Related Data Available

Transcripts for BEGAIN Gene

Unigene Clusters for BEGAIN Gene

Brain-enriched guanylate kinase-associated:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BEGAIN Gene

No ASD Table

Relevant External Links for BEGAIN Gene

GeneLoc Exon Structure for
BEGAIN
ECgene alternative splicing isoforms for
BEGAIN

Expression for BEGAIN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BEGAIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BEGAIN Gene

This gene is overexpressed in Brain - Cerebellum (x6.9) and Brain - Cerebellar Hemisphere (x5.9).

Protein differential expression in normal tissues from HIPED for BEGAIN Gene

This gene is overexpressed in Colon (37.8) and Heart (20.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BEGAIN Gene



Protein tissue co-expression partners for BEGAIN Gene

NURSA nuclear receptor signaling pathways regulating expression of BEGAIN Gene:

BEGAIN

SOURCE GeneReport for Unigene cluster for BEGAIN Gene:

Hs.211751

Evidence on tissue expression from TISSUES for BEGAIN Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with BEGAIN: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BEGAIN Gene

Orthologs for BEGAIN Gene

This gene was present in the common ancestor of animals.

Orthologs for BEGAIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BEGAIN 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BEGAIN 33 34
  • 91.27 (n)
rat
(Rattus norvegicus)
Mammalia Begain 33
  • 87.19 (n)
mouse
(Mus musculus)
Mammalia Begain 33 16 34
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia BEGAIN 33 34
  • 84.53 (n)
oppossum
(Monodelphis domestica)
Mammalia BEGAIN 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BEGAIN 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves BEGAIN 33 34
  • 64.58 (n)
lizard
(Anolis carolinensis)
Reptilia BEGAIN 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia begain 33
  • 60.27 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-174m14.3 33
  • 56.58 (n)
BEGAIN 34
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42324 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
Species where no ortholog for BEGAIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BEGAIN Gene

ENSEMBL:
Gene Tree for BEGAIN (if available)
TreeFam:
Gene Tree for BEGAIN (if available)

Paralogs for BEGAIN Gene

Paralogs for BEGAIN Gene

(1) SIMAP similar genes for BEGAIN Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with BEGAIN: view

Variants for BEGAIN Gene

Sequence variations from dbSNP and Humsavar for BEGAIN Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000098658 -- 100,549,223(-) A/G intron_variant
rs1000160873 -- 100,570,029(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000190100 -- 100,586,915(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000293963 -- 100,552,215(-) C/G intron_variant
rs1000295895 -- 100,553,974(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BEGAIN Gene

Variant ID Type Subtype PubMed ID
dgv3898n54 CNV loss 21841781
esv1740531 CNV deletion 17803354
esv2660432 CNV deletion 23128226
esv2675262 CNV deletion 23128226
esv2749112 CNV deletion 23290073
esv2749113 CNV deletion 23290073
esv2749114 CNV deletion 23290073
esv2749115 CNV deletion 23290073
esv34023 CNV loss 18971310
esv3635509 CNV gain 21293372
esv3635510 CNV gain 21293372
esv3635511 CNV loss 21293372
esv993981 CNV deletion 20482838
nsv1047590 CNV gain 25217958
nsv1069819 CNV deletion 25765185
nsv1121879 CNV deletion 24896259
nsv1139952 CNV deletion 24896259
nsv456427 CNV loss 19166990
nsv509548 CNV insertion 20534489
nsv521690 CNV loss 19592680
nsv952240 CNV deletion 24416366

Variation tolerance for BEGAIN Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.05; 90.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BEGAIN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BEGAIN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEGAIN Gene

Disorders for BEGAIN Gene

Additional Disease Information for BEGAIN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BEGAIN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BEGAIN Gene

Publications for BEGAIN Gene

  1. 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. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for BEGAIN Gene

Sources for BEGAIN Gene

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