2. Gene
  3. BEGAIN - brain enriched guanylate kinase associated Gene

BEGAIN - brain enriched guanylate kinase associated Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 57596 | Gene type: protein coding

About BEGAIN

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,537,147-100,587,417 (from NCBI)

This gene has 11 transcripts (splice variants) and 116 orthologues. Broad expression in brain (RPKM 1.4), adrenal (RPKM 0.4) and 14 other tissues.

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]

BEGAIN Products(25)

mRNA Protein Name
NM_001159531.2 NP_001153003.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385082.1 NP_001372011.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385083.1 NP_001372012.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385084.1 NP_001372013.1 brain-enriched guanylate kinase-associated protein isoform 1
NM_001385085.1 NP_001372014.1 brain-enriched guanylate kinase-associated protein isoform 2
NM_001385086.1 NP_001372015.1 brain-enriched guanylate kinase-associated protein isoform 3
NM_001385087.1 NP_001372016.1 brain-enriched guanylate kinase-associated protein isoform 4
NM_001385088.1 NP_001372017.1 brain-enriched guanylate kinase-associated protein isoform 5
NM_001385089.1 NP_001372018.1 brain-enriched guanylate kinase-associated protein isoform 6
NM_001385090.1 NP_001372019.1 brain-enriched guanylate kinase-associated protein isoform 7
NM_001385091.1 NP_001372020.1 brain-enriched guanylate kinase-associated protein isoform 8
NM_001385092.1 NP_001372021.1 brain-enriched guanylate kinase-associated protein isoform 9
NM_001385093.1 NP_001372022.1 brain-enriched guanylate kinase-associated protein isoform 10
NM_001385094.1 NP_001372023.1 brain-enriched guanylate kinase-associated protein isoform 11
NM_001385095.1 NP_001372024.1 brain-enriched guanylate kinase-associated protein isoform 12
NM_001385096.1 NP_001372025.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385097.1 NP_001372026.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385098.1 NP_001372027.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385099.1 NP_001372028.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385100.1 NP_001372029.1 brain-enriched guanylate kinase-associated protein isoform 13
NM_001385101.1 NP_001372030.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_001385102.1 NP_001372031.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_001385103.1 NP_001372032.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_001385104.1 NP_001372033.1 brain-enriched guanylate kinase-associated protein isoform 14
NM_020836.4 NP_065887.1 brain-enriched guanylate kinase-associated protein isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

brain-enriched guanylate kinase-associated protein

brain-enriched guanylate kinase-associated homolog

Related Diseases

Diseases Alias
Cataract 4, Multiple Types

Cataract 4 Multiple Types

CTRCT4

Cca3

Pcc

Aculeiform Cataract

Cataract 4, Multiple Types, With Or Without Microcornea

Cataract, Crystalline Aculeiform

Caca

Cataract, Congenital, Cerulean Type, 3

Congenital Cataract Cerulean Type 3

Cataract Congenital Dominant Non Nuclear

Ccp

Cataract, Nonnuclear Polymorphic Congenital

Cataract, Punctate, Progressive Juvenile-Onset

Cataract 4 Multiple Types With Or Without Microcornea

Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract

Cataract, Polymorphic Congenital

Congenital Cataract Blue Dot Type 3

Congenital Non-Nuclear Polymorphic Cataract

Crystalline Aculeiform Cataract

Punctate, Progressive Juvenile-Onset, Cataract

Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
Developmental And Epileptic Encephalopathy 66

DEE66

Epileptic Encephalopathy, Early Infantile, 66

Eiee66

Developmental And Epileptic Encephalopathy, 66

Early Infantile Epileptic Encephalopathy 66

Encephalopathy, Epileptic, Early Infantile, Type 66
Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01467 BEGAIN Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus BEGAIN RGD RGD:708347
Canis familiaris BEGAIN VGNC VGNC:38429
Felis catus BEGAIN VGNC VGNC:60100
Bos taurus BEGAIN VGNC VGNC:26465
Mus musculus BEGAIN MGD MGI:3044626
Macaca mulatta BEGAIN VGNC VGNC:70124