Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54584
Gene name Gene Name - the full gene name approved by the HGNC.
G protein subunit beta 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNB1L
Synonyms (NCBI Gene) Gene synonyms aliases
DGCRK3, FKSG1, GY2, WDR14, WDVCF
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilit
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT483903 hsa-miR-4684-5p PAR-CLIP 20371350
MIRT483901 hsa-miR-4768-5p PAR-CLIP 20371350
MIRT483902 hsa-miR-6833-3p PAR-CLIP 20371350
MIRT483900 hsa-miR-6809-3p PAR-CLIP 20371350
MIRT483903 hsa-miR-4684-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0007186 Process G protein-coupled receptor signaling pathway NAS 11072084
GO:0009898 Component Cytoplasmic side of plasma membrane NAS 11072084
GO:0035556 Process Intracellular signal transduction NAS 11072084
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610778 4397 ENSG00000185838
Protein
UniProt ID Q9BYB4
Protein name Guanine nucleotide-binding protein subunit beta-like protein 1 (G protein subunit beta-like protein 1) (DGCRK3) (WD repeat-containing protein 14) (WD40 repeat-containing protein deleted in VCFS) (WDVCF)
Protein function Acts as a critical regulator of DNA damage response (DDR) signaling via specifically regulating phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 285 322 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain. {ECO:0000269|PubMed:11072084}.
Sequence
MTAPCPPPPPDPQFVLRGTQSPVHALHFCEGAQAQGRPLLFSGSQSGLVHIWSLQTRRAV
TTLDGHGGQCVTWLQTLPQGRQLLSQGRDLKLCLWDLAEGRSAVVDSVCLESVGFCRSSI
LAGGQPRWTLAVPGRGSDEVQILEMPSKTSVCALKPKADAKLGMPMCLRLWQADCSSRPL
LLAGYEDGSVVLWDVSEQKVCSRIACHEEPVMDLDFDSQKARGISGSAGKALAVWSLDWQ
QALQVRGTHELTNPGIAEVTIRPDRKILATAGWDHRIRVFHWRTMQPLAVLAFHSAAVQC
VAFTADGLLAAGSKDQRISLWS
LYPRA
Sequence length 327
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
22457764, 20538345, 18003636, 22095694
Unknown
Disease term Disease name Evidence References Source
Glaucoma Glaucoma GWAS
Associations from Text Mining
Disease Name Relationship Type References
22q11 Deletion Syndrome Associate 19011233
Autism Spectrum Disorder Associate 22095694
Autistic Disorder Associate 22095694
Bipolar Disorder Associate 24831436
Carcinoma Hepatocellular Associate 22326833
Chromosome Deletion Associate 24831436
Glaucoma Open Angle Associate 33726755
Heart Septal Defects Ventricular Associate 19268070
Schizophrenia Associate 19011233, 22095694, 24831436
Schizophrenia Inhibit 19011233