Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54584
Gene name	G protein subunit beta 1 like
Gene symbol	GNB1L
Synonyms (NCBI Gene)	DGCRK3FKSG1GY2WDR14WDVCF
Chromosome	22
Chromosome location	22q11.21
Summary	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

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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
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT529894	hsa-miR-3926	PAR-CLIP	22012620
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	22012620
MIRT483913	hsa-miR-212-5p	PAR-CLIP	23592263
MIRT483912	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT483911	hsa-miR-3197	PAR-CLIP	23592263
MIRT483909	hsa-miR-6087	PAR-CLIP	23592263
MIRT483910	hsa-miR-4252	PAR-CLIP	23592263
MIRT483908	hsa-miR-4316	PAR-CLIP	23592263
MIRT483907	hsa-miR-1294	PAR-CLIP	23592263
MIRT483906	hsa-miR-663b	PAR-CLIP	23592263
MIRT483905	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT483904	hsa-miR-7108-5p	PAR-CLIP	23592263
MIRT489330	hsa-miR-4717-5p	PAR-CLIP	23592263
MIRT489329	hsa-miR-1321	PAR-CLIP	23592263
MIRT489327	hsa-miR-4739	PAR-CLIP	23592263
MIRT489328	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT489326	hsa-miR-5690	PAR-CLIP	23592263
MIRT489325	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT489324	hsa-miR-6749-5p	PAR-CLIP	23592263
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	23592263
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	23592263
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	23592263
MIRT483913	hsa-miR-212-5p	PAR-CLIP	23592263
MIRT483912	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT483911	hsa-miR-3197	PAR-CLIP	23592263
MIRT483909	hsa-miR-6087	PAR-CLIP	23592263
MIRT483910	hsa-miR-4252	PAR-CLIP	23592263
MIRT483908	hsa-miR-4316	PAR-CLIP	23592263
MIRT483907	hsa-miR-1294	PAR-CLIP	23592263
MIRT483906	hsa-miR-663b	PAR-CLIP	23592263
MIRT483905	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT483904	hsa-miR-7108-5p	PAR-CLIP	23592263
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	23592263
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	23592263
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	23592263
MIRT483907	hsa-miR-1294	PAR-CLIP	26701625
MIRT483907	hsa-miR-1294	PAR-CLIP	26701625
MIRT483913	hsa-miR-212-5p	PAR-CLIP	26701625
MIRT483913	hsa-miR-212-5p	PAR-CLIP	26701625
MIRT483911	hsa-miR-3197	PAR-CLIP	26701625
MIRT483911	hsa-miR-3197	PAR-CLIP	26701625
MIRT483910	hsa-miR-4252	PAR-CLIP	26701625
MIRT483910	hsa-miR-4252	PAR-CLIP	26701625
MIRT483908	hsa-miR-4316	PAR-CLIP	26701625
MIRT483908	hsa-miR-4316	PAR-CLIP	26701625
MIRT483912	hsa-miR-4677-3p	PAR-CLIP	26701625
MIRT483912	hsa-miR-4677-3p	PAR-CLIP	26701625
MIRT483909	hsa-miR-6087	PAR-CLIP	26701625
MIRT483909	hsa-miR-6087	PAR-CLIP	26701625
MIRT483905	hsa-miR-6765-5p	PAR-CLIP	26701625
MIRT483905	hsa-miR-6765-5p	PAR-CLIP	26701625
MIRT483907	hsa-miR-1294	PAR-CLIP	27292025
MIRT483913	hsa-miR-212-5p	PAR-CLIP	27292025
MIRT483911	hsa-miR-3197	PAR-CLIP	27292025
MIRT483910	hsa-miR-4252	PAR-CLIP	27292025
MIRT483908	hsa-miR-4316	PAR-CLIP	27292025
MIRT483912	hsa-miR-4677-3p	PAR-CLIP	27292025
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	27292025
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	27292025
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	27292025
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	27292025
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	27292025
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	27292025
MIRT483909	hsa-miR-6087	PAR-CLIP	27292025
MIRT483905	hsa-miR-6765-5p	PAR-CLIP	27292025
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	27292025
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	27292025
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	27292025
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	27292025
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	27292025
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	27292025
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
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT529894	hsa-miR-3926	PAR-CLIP	22012620
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	22012620
MIRT483913	hsa-miR-212-5p	PAR-CLIP	23592263
MIRT483912	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT483911	hsa-miR-3197	PAR-CLIP	23592263
MIRT483909	hsa-miR-6087	PAR-CLIP	23592263
MIRT483910	hsa-miR-4252	PAR-CLIP	23592263
MIRT483908	hsa-miR-4316	PAR-CLIP	23592263
MIRT483907	hsa-miR-1294	PAR-CLIP	23592263
MIRT483906	hsa-miR-663b	PAR-CLIP	23592263
MIRT483905	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT483904	hsa-miR-7108-5p	PAR-CLIP	23592263
MIRT489330	hsa-miR-4717-5p	PAR-CLIP	23592263
MIRT489329	hsa-miR-1321	PAR-CLIP	23592263
MIRT489327	hsa-miR-4739	PAR-CLIP	23592263
MIRT489328	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT489326	hsa-miR-5690	PAR-CLIP	23592263
MIRT489325	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT489324	hsa-miR-6749-5p	PAR-CLIP	23592263
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	23592263
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	23592263
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	23592263
MIRT483913	hsa-miR-212-5p	PAR-CLIP	23592263
MIRT483912	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT483911	hsa-miR-3197	PAR-CLIP	23592263
MIRT483909	hsa-miR-6087	PAR-CLIP	23592263
MIRT483910	hsa-miR-4252	PAR-CLIP	23592263
MIRT483908	hsa-miR-4316	PAR-CLIP	23592263
MIRT483907	hsa-miR-1294	PAR-CLIP	23592263
MIRT483906	hsa-miR-663b	PAR-CLIP	23592263
MIRT483905	hsa-miR-6765-5p	PAR-CLIP	23592263
MIRT483904	hsa-miR-7108-5p	PAR-CLIP	23592263
MIRT483903	hsa-miR-4684-5p	PAR-CLIP	23592263
MIRT483901	hsa-miR-4768-5p	PAR-CLIP	23592263
MIRT483902	hsa-miR-6833-3p	PAR-CLIP	23592263
MIRT483900	hsa-miR-6809-3p	PAR-CLIP	23592263
MIRT1023869	hsa-miR-138	CLIP-seq
MIRT1023870	hsa-miR-1827	CLIP-seq
MIRT1023871	hsa-miR-2277-3p	CLIP-seq
MIRT1023872	hsa-miR-3189-3p	CLIP-seq
MIRT1023873	hsa-miR-4257	CLIP-seq
MIRT1023874	hsa-miR-4640-5p	CLIP-seq
MIRT1023875	hsa-miR-4652-5p	CLIP-seq
MIRT1023876	hsa-miR-4679	CLIP-seq
MIRT1023877	hsa-miR-4706	CLIP-seq
MIRT1023878	hsa-miR-4726-5p	CLIP-seq
MIRT1023879	hsa-miR-4749-5p	CLIP-seq
MIRT1023880	hsa-miR-4780	CLIP-seq
MIRT1023881	hsa-miR-4781-5p	CLIP-seq
MIRT1023882	hsa-miR-635	CLIP-seq
MIRT2540123	hsa-miR-1207-3p	CLIP-seq
MIRT2540124	hsa-miR-3128	CLIP-seq
MIRT2540123	hsa-miR-1207-3p	CLIP-seq
MIRT2540124	hsa-miR-3128	CLIP-seq

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
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	37541219
GO:0035176	Process	Social behavior	IEA

MIM	HGNC	e!Ensembl
610778	4397	ENSG00000185838

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GNB1L-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	19011233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	BEFREE	19011233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22095694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22095694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22095694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22095694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20538345		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24831436	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22326833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	11072084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	33726755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	19268070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20538345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	16684884, 20538345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	18003636		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	18003636		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	18003636		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	18003636, 20538345		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	18003636, 19011233, 20538345, 22095694, 22457764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18003636, 20538345, 22095694, 22457764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19011233, 22095694, 24831436	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19011233	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	11072084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20538345		★★★★★ ★☆☆☆☆ Found in Text Mining only

GNB1L (G protein subunit beta 1 like)