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 facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular proce... See more...

Aliases for GNB1L Gene

Aliases for GNB1L Gene

  • G Protein Subunit Beta 1 Like 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 1-Like 2 3
  • Guanine Nucleotide-Binding Protein Subunit Beta-Like Protein 1 3 4
  • WD40 Repeat-Containing Protein Deleted In VCFS 3 4
  • G Protein Subunit Beta-Like Protein 1 3 4
  • WD Repeat-Containing Protein 14 3 4
  • DGCRK3 3 4
  • WDR14 3 4
  • WDVCF 3 4
  • GY2 3 4
  • Guanine Nucleotide Binding Protein Beta-Subunit-Like Polypeptide 3
  • G-Protein Beta Subunit-Like Protein 3
  • KIAA1645 4
  • FKSG1 3

External Ids for GNB1L Gene

Previous GeneCards Identifiers for GNB1L Gene

  • GC22M016716
  • GC22M018145
  • GC22M018150
  • GC22M003395

Summaries for GNB1L Gene

Entrez Gene Summary for GNB1L 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 facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GNB1L Gene

GNB1L (G Protein Subunit Beta 1 Like) is a Protein Coding gene. Diseases associated with GNB1L include Digeorge Syndrome and Epiglottis Neoplasm. Among its related pathways are ERK Signaling and ADP signalling through P2Y purinoceptor 12. An important paralog of this gene is TBL3.

Gene Wiki entry for GNB1L Gene

Additional gene information for GNB1L Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNB1L Gene

Genomics for GNB1L Gene

GeneHancer (GH) Regulatory Elements for GNB1L Gene

Promoters and enhancers for GNB1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNB1L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNB1L

Top Transcription factor binding sites by QIAGEN in the GNB1L gene promoter:
  • C/EBPalpha
  • CHOP-10
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LCR-F1
  • Pax-4a

Genomic Locations for GNB1L Gene

Genomic Locations for GNB1L Gene
chr22:19,783,223-19,854,939
(GRCh38/hg38)
Size:
71,717 bases
Orientation:
Minus strand
chr22:19,770,747-19,842,462
(GRCh37/hg19)
Size:
71,716 bases
Orientation:
Minus strand

Genomic View for GNB1L Gene

Genes around GNB1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNB1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNB1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB1L Gene

Proteins for GNB1L Gene

  • Protein details for GNB1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYB4-GNB1L_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein subunit beta-like protein 1
    Protein Accession:
    Q9BYB4
    Secondary Accessions:
    • Q9H2S2
    • Q9H4M4

    Protein attributes for GNB1L Gene

    Size:
    327 amino acids
    Molecular mass:
    35618 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB33315.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GNB1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNB1L Gene

Post-translational modifications for GNB1L Gene

  • Ubiquitination at Lys91 and Lys220
  • Modification sites at PhosphoSitePlus

Other Protein References for GNB1L Gene

No data available for DME Specific Peptides for GNB1L Gene

Domains & Families for GNB1L Gene

Gene Families for GNB1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GNB1L Gene

GenScript: Design optimal peptide antigens:
  • WD40 repeat-containing protein deleted in VCFS (GNB1L_HUMAN)
genes like me logo Genes that share domains with GNB1L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GNB1L Gene

Function for GNB1L Gene

Phenotypes From GWAS Catalog for GNB1L Gene

Gene Ontology (GO) - Molecular Function for GNB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with GNB1L: view
genes like me logo Genes that share phenotypes with GNB1L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GNB1L

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNB1L

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GNB1L Gene

Localization for GNB1L Gene

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 GNB1L gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GNB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0009898 cytoplasmic side of plasma membrane NAS 11072084
genes like me logo Genes that share ontologies with GNB1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNB1L Gene

Pathways & Interactions for GNB1L Gene

PathCards logo

SuperPathways for GNB1L Gene

SuperPathway Contained pathways
1 ADP signalling through P2Y purinoceptor 12
2 ERK Signaling
.51
genes like me logo Genes that share pathways with GNB1L: view

Pathways by source for GNB1L Gene

1 PharmGKB pathway for GNB1L Gene
1 Qiagen pathway for GNB1L Gene
  • Molecular Mechanisms of Cancer

Gene Ontology (GO) - Biological Process for GNB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway NAS 11072084
GO:0035176 social behavior IEA --
GO:0035556 intracellular signal transduction NAS 11072084
genes like me logo Genes that share ontologies with GNB1L: view

No data available for SIGNOR curated interactions for GNB1L Gene

Drugs & Compounds for GNB1L Gene

No Compound Related Data Available

Transcripts for GNB1L Gene

mRNA/cDNA for GNB1L Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 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 GNB1L

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNB1L Gene

No ASD Table

Relevant External Links for GNB1L Gene

GeneLoc Exon Structure for
GNB1L

Expression for GNB1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNB1L Gene

Protein differential expression in normal tissues from HIPED for GNB1L Gene

This gene is overexpressed in Monocytes (35.2), CD8 Tcells (12.1), and CD4 Tcells (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNB1L Gene



Protein tissue co-expression partners for GNB1L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNB1L

SOURCE GeneReport for Unigene cluster for GNB1L Gene:

Hs.105642

mRNA Expression by UniProt/SwissProt for GNB1L Gene:

Q9BYB4-GNB1L_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.

Evidence on tissue expression from TISSUES for GNB1L Gene

  • Nervous system(4.8)
  • Lung(4.4)
genes like me logo Genes that share expression patterns with GNB1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNB1L Gene

Orthologs for GNB1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GNB1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNB1L 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNB1L 31 30
  • 86.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GNB1L 31 30
  • 83.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb1l 30
  • 82.43 (n)
mouse
(Mus musculus)
Mammalia Gnb1l 17 31 30
  • 82 (n)
oppossum
(Monodelphis domestica)
Mammalia GNB1L 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB1L 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNB1L 31 30
  • 65.71 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb1l 30
  • 59.89 (n)
zebrafish
(Danio rerio)
Actinopterygii gnb1l 31 30
  • 58.66 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2409 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011814 30
  • 50.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13192 31 30
  • 44.6 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2757 30
  • 41.78 (n)
rice
(Oryza sativa)
Liliopsida Os06g0131100 30
  • 42.08 (n)
Species where no ortholog for GNB1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GNB1L Gene

ENSEMBL:
Gene Tree for GNB1L (if available)
TreeFam:
Gene Tree for GNB1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNB1L: view image

Paralogs for GNB1L Gene

Paralogs for GNB1L Gene

genes like me logo Genes that share paralogs with GNB1L: view

Variants for GNB1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNB1L Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
711009 Benign: not provided 19,788,883(-) G/A SYNONYMOUS_VARIANT
714836 Benign: not provided 19,788,859(-) G/A SYNONYMOUS_VARIANT
715205 Likely Benign: not provided 19,821,282(-) G/A MISSENSE_VARIANT
733011 Benign: not provided 19,812,333(-) C/G SYNONYMOUS_VARIANT
734351 Likely Benign: not provided 19,820,651(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GNB1L Gene

Structural Variations from Database of Genomic Variants (DGV) for GNB1L Gene

Variant ID Type Subtype PubMed ID
dgv1288e212 CNV loss 25503493
dgv725n67 CNV gain 20364138
dgv7983n54 CNV gain 21841781
esv2662570 CNV deletion 23128226
esv3568260 CNV loss 25503493
esv3568263 CNV loss 25503493
esv3575418 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv438325 CNV loss 16468122
nsv471181 CNV loss 18288195
nsv517478 CNV loss 19592680
nsv588216 CNV gain 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv828943 CNV loss 20364138
nsv828949 CNV gain 20364138
nsv834128 CNV loss 17160897
nsv834129 CNV loss 17160897
nsv834130 CNV loss 17160897
nsv953024 CNV deletion 24416366
nsv964584 CNV duplication 23825009

Variation tolerance for GNB1L Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.51; 82.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNB1L Gene

Human Gene Mutation Database (HGMD)
GNB1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNB1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNB1L Gene

Disorders for GNB1L Gene

MalaCards: The human disease database

(9) MalaCards diseases for GNB1L Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • cayler cardiofacial syndrome
epiglottis neoplasm
  • epiglottic tumor
cat eye syndrome
  • ces
maxillary cancer
  • maxillary neoplasm
jaw cancer
  • jaw neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search GNB1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GNB1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GNB1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNB1L Gene

Publications for GNB1L Gene

  1. GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide. (PMID: 11072084) Gong L … Yeh ET (Biochimica et biophysica acta 2000) 2 3 4 23 54
  2. Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11. (PMID: 11350118) Funke B … Morrow BE (Genomics 2001) 3 4 23 54
  3. Supportive evidence for reduced expression of GNB1L in schizophrenia. (PMID: 19011233) Ishiguro H … Arinami T (Schizophrenia bulletin 2010) 3 41 54
  4. Strong evidence that GNB1L is associated with schizophrenia. (PMID: 18003636) Williams NM … Owen MJ (Human molecular genetics 2008) 3 41 54
  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 54

Products for GNB1L Gene

Sources for GNB1L Gene