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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 Protein-protein interactions at synapses and Transmission across Chemical Synapses. 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

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

Genomics for BEGAIN Gene

Regulatory Elements for BEGAIN Gene

Enhancers for BEGAIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F100553 1.4 FANTOM5 Ensembl ENCODE 45.5 +31.4 31362 4.7 ATF1 KLF1 ZNF223 KLF17 MAX ZIC2 ZFHX2 POLR2A PATZ1 PRDM10 BEGAIN WARS WDR25 LOC105370666
GH14F100546 0.9 ENCODE 66.1 +40.1 40098 3.6 ATF1 PKNOX1 RAD21 SCRT2 ZNF143 ZNF263 SMARCA5 SMARCC1 USF2 SMARCB1 BEGAIN LOC105370666
GH14F100532 1 Ensembl ENCODE 56.5 +53.7 53713 3.0 JUN MAX ZIC2 RAD21 ZEB1 GATA3 ZFHX2 SCRT2 HNF4G FOS BEGAIN GC14P102749 RN7SKP92
GH14F100475 1.3 Ensembl ENCODE 19.1 +110.7 110667 3.4 PKNOX1 MLX ARID4B SIN3A FEZF1 ZNF48 ZNF2 ZNF121 GLIS2 FOS BEGAIN MEG3 DLK1 HMGN1P25 LOC105370664
GH14F100616 1.3 FANTOM5 Ensembl ENCODE 18 -30.8 -30788 2.8 CTCF PKNOX1 ZNF2 RAD21 RARA ZFHX2 GATA3 ZBTB48 ZNF366 EGR2 BEGAIN DIO3 DIO3OS WARS WDR25 DLK1 ENSG00000258576 PIR56329
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BEGAIN on UCSC Golden Path with GeneCards custom track

Promoters for BEGAIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000181700 213 1201 ZNF76 KLF17 SIN3A GLIS2 KLF7 ETV6 EGR2 ZNF263 SP3 HCFC1

Genomic Location for BEGAIN Gene

Chromosome:
14
Start:
100,537,147 bp from pter
End:
100,587,413 bp from pter
Size:
50,267 bases
Orientation:
Minus strand

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

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 Gene Families and 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).

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

Inhibitory RNA Products

Flow Cytometry 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

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

Transcripts for BEGAIN Gene

Unigene Clusters for BEGAIN Gene

Brain-enriched guanylate kinase-associated:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with BEGAIN: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BEGAIN 34 35
  • 91.27 (n)
rat
(Rattus norvegicus)
Mammalia Begain 34
  • 87.19 (n)
mouse
(Mus musculus)
Mammalia Begain 34 16 35
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia BEGAIN 34 35
  • 84.53 (n)
oppossum
(Monodelphis domestica)
Mammalia BEGAIN 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BEGAIN 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves BEGAIN 34 35
  • 64.58 (n)
lizard
(Anolis carolinensis)
Reptilia BEGAIN 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia begain 34
  • 60.27 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-174m14.3 34
  • 56.58 (n)
BEGAIN 35
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42324 35
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs10129359 -- 100,561,454(+) cttcc(A/G)aaatc intron-variant
rs10133357 -- 100,550,230(+) GTCCA(A/G)GCCCA intron-variant
rs10135964 -- 100,563,522(+) TCAAT(A/G)GGAAA intron-variant
rs10136621 -- 100,551,153(+) TGCCC(C/T)GGGGC intron-variant
rs10140554 -- 100,569,737(+) ACCCA(C/G)TCGTT intron-variant, upstream-variant-2KB, splice-donor-variant, utr-variant-5-prime

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)

Relevant External Links 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

Relevant External Links for BEGAIN

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

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 Res. 2000) 2 3 4 64
  2. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks C.E. … Murray A. (Nat. Genet. 2010) 3 46 64
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for BEGAIN Gene

Sources for BEGAIN Gene

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