GNB1L (G protein subunit beta 1 like)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(150)
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IMP 37541219
GO:0005634 Component Nucleus IDA 37541219
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 37541219
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610778 4397 ENSG00000185838
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
VAFTADGLLAAGSKDQRISLWSLYPRA
Sequence length 327
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glaucoma Glaucoma N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
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