Aliases for BEGAIN Gene

Aliases for BEGAIN Gene

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

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. Gene Ontology (GO) annotations related to this gene include kinase activity.

UniProtKB/Swiss-Prot Summary for BEGAIN Gene

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 , Rfam classification and piRNA Summary for BEGAIN Gene

Genomics for BEGAIN Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH14J100585 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 614.5 +0.3 348 2.3 PRDM10 ZNF629 ZNF692 TARDBP ETV6 ZIC2 PATZ1 REST ZNF24 EZH2 BEGAIN ENSG00000258576 lnc-WDR25-2 WARS1
GH14J100565 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 618.8 +19.4 19409 3.5 ZBTB33 PRDM10 ZNF692 ZIC2 PATZ1 EZH2 ZNF600 ZNF341 ZNF792 ZBTB20 BEGAIN lnc-WDR25-2 lnc-WARS-4 WARS1
GH14J100546 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 66.2 +40.1 40097 3.6 HNRNPL PRDM10 ZNF692 TARDBP ZNF143 GTF2F1 ZNF341 SCRT2 NRF1 ZFX lnc-WARS-4 BEGAIN lnc-WDR25-2 WARS1
GH14J100532 Enhancer 0.8 ENCODE dbSUPER 56.5 +53.6 53610 2.7 HNRNPL ZBTB33 ZIC2 SP1 SCRT2 EGR1 ZBTB26 CHD2 SCRT1 NR2F2 BEGAIN ENSG00000259031 HSALNG0103739 WARS1
GH14J100553 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 41.2 +33.0 33044 1.2 CREB1 PRDM10 ZNF629 JUND ZIC2 PKNOX1 HDAC1 ATF1 MTA3 EGR1 BEGAIN WARS1 WDR25 lnc-WARS-4 lnc-WDR25-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEGAIN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEGAIN

Top Transcription factor binding sites by QIAGEN in the BEGAIN gene promoter:
  • FOXO1
  • FOXO1a
  • Ik-1
  • Ik-3
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Sox9
  • USF-1
  • USF1

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)
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

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:
  • Brain-enriched guanylate kinase-associated protein (BEGIN_HUMAN)
genes like me logo Genes that share domains with BEGAIN: view

No data available for Graphical View of Domain Structure 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).

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 Models for BEGAIN Gene

MGI Knock Outs for BEGAIN:
  • Begain Begain<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEGAIN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
  • Nucleoplasm (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 --
GO:0045202 synapse IBA 21873635
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0098962 regulation of postsynaptic neurotransmitter receptor activity IBA 21873635
genes like me logo Genes that share ontologies with BEGAIN: view

No data available for SIGNOR curated interactions for BEGAIN Gene

Drugs & Compounds for BEGAIN Gene

No Compound Related Data Available

Transcripts for BEGAIN Gene

mRNA/cDNA for BEGAIN Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BEGAIN

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

No ASD Table

Relevant External Links for BEGAIN Gene

GeneLoc Exon Structure 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 and MOPED for BEGAIN Gene



Protein tissue co-expression partners for BEGAIN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEGAIN

SOURCE GeneReport for Unigene cluster for BEGAIN Gene:

Hs.211751

Evidence on tissue expression from TISSUES for BEGAIN Gene

  • Nervous system(4.5)
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 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BEGAIN 30 31
  • 91.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Begain 30
  • 87.19 (n)
Mouse
(Mus musculus)
Mammalia Begain 30 17 31
  • 86.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BEGAIN 30 31
  • 84.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BEGAIN 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BEGAIN 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BEGAIN 30 31
  • 64.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BEGAIN 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia begain 30
  • 60.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-174m14.3 30
  • 56.58 (n)
BEGAIN 31
  • 42 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG42324 31
  • 8 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToMany
Species where no ortholog for BEGAIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BEGAIN: view image

Paralogs for BEGAIN Gene

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

  • BEGIN_HUMAN
  • G3V2K4_HUMAN
  • G3V3A2_HUMAN
  • G3V3R5_HUMAN
  • G3V3S3_HUMAN
  • G3V536_HUMAN
  • G3V600_HUMAN
genes like me logo Genes that share paralogs with BEGAIN: view

No data available for Paralogs for BEGAIN Gene

Variants for BEGAIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BEGAIN Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
689690 Uncertain Significance: Marfanoid habitus and intellectual disability 100,538,646(-) C/T MISSENSE_VARIANT
707933 Benign: not provided 100,538,218(-) G/A SYNONYMOUS_VARIANT
708412 Benign: not provided 100,539,225(-) C/T MISSENSE_VARIANT
720693 Benign: not provided 100,539,098(-) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BEGAIN Gene

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
Open Targets Platform

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
  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 41
  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
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  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

Products for BEGAIN Gene

Sources for BEGAIN Gene