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Aliases for RIC8A Gene

Aliases for RIC8A Gene

  • RIC8 Guanine Nucleotide Exchange Factor A 2 3 5
  • Resistance To Inhibitors Of Cholinesterase 8 Homolog A (C. Elegans) 2
  • Resistance To Inhibitors Of Cholinesterase 8 Homolog A 3
  • Protein Ric-8A 4
  • Synembryn-A 3
  • RIC8 3

External Ids for RIC8A Gene

Previous GeneCards Identifiers for RIC8A Gene

  • GC11P000200
  • GC11P000028

Summaries for RIC8A Gene

GeneCards Summary for RIC8A Gene

RIC8A (RIC8 Guanine Nucleotide Exchange Factor A) is a Protein Coding gene. Diseases associated with RIC8A include Walker-Warburg Syndrome. Gene Ontology (GO) annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RIC8B.

UniProtKB/Swiss-Prot for RIC8A Gene

  • Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex (By similarity). Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation.

Gene Wiki entry for RIC8A Gene

Additional gene information for RIC8A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIC8A Gene

Genomics for RIC8A Gene

GeneHancer (GH) Regulatory Elements for RIC8A Gene

Promoters and enhancers for RIC8A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J000205 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 663.2 +1.2 1201 6 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B RIC8A BET1L MIR6743 GC11P000208 PSMD13 PIDD1 TMEM80 ENSG00000255158 PIR57925
GH11J000234 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 47.3 +29.0 29039 3.5 HDGF HNRNPUL1 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 PSMD13 SIRT3 RIC8A BET1L SNORA52 RNH1 GATD1 TMEM80 ENSG00000255237 RPLP2
GH11J000266 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 54.1 +62.5 62541 6.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT IRF4 YY1 POLR2B ZNF766 CBX5 PIR53591 RIC8A TMEM80 BET1L PHRF1 IFITM2 PSMD13 SNORA52 PIDD1 SIRT3
GH11J000324 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 34.6 +120.5 120491 8 HDGF PKNOX1 SMAD1 ARNT IRF4 YY1 POLR2B ZNF766 CBX5 E2F8 ENSG00000270030 LOC105376505 IFITM3 LOC105376504 TMEM80 RIC8A PHRF1 PIDD1 SNORA52 TSPAN4
GH11J000574 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 27.6 +370.9 370870 6.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 PHRF1 TMEM80 SNORA52 BET1L ENSG00000255237 RIC8A TSPAN4 PSMD13 PIDD1 RPLP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIC8A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RIC8A gene promoter:
  • Roaz
  • Nkx2-5
  • Pax-4a
  • Tal-1beta
  • E47
  • MRF-2
  • NF-1
  • NF-1/L
  • RFX1
  • AREB6

Genomic Locations for RIC8A Gene

Genomic Locations for RIC8A Gene
chr11:207,511-215,175
(GRCh38/hg38)
Size:
7,665 bases
Orientation:
Plus strand
chr11:207,511-215,113
(GRCh37/hg19)
Size:
7,603 bases
Orientation:
Plus strand

Genomic View for RIC8A Gene

Genes around RIC8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIC8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIC8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIC8A Gene

Proteins for RIC8A Gene

  • Protein details for RIC8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPQ8-RIC8A_HUMAN
    Recommended name:
    Synembryn-A
    Protein Accession:
    Q9NPQ8
    Secondary Accessions:
    • Q0P508
    • Q2T9J1
    • Q7Z352
    • Q96EZ1
    • Q96SZ2
    • Q9H064
    • Q9H5H3
    • Q9H9E7

    Protein attributes for RIC8A Gene

    Size:
    531 amino acids
    Molecular mass:
    59710 Da
    Quaternary structure:
    • Interacts with GDP-bound G alpha proteins GNAI1, GNAO1 and GNAQ, and with GNA13 with lower affinity. Does not interact with G-alpha proteins when they are in complex with subunits beta and gamma. Interacts (via C-terminus) with RGS14; the interaction stimulates the dissociation of the complex between RGS14 and the active GTP-bound form of GNAI1 (By similarity).
    SequenceCaution:
    • Sequence=BAB14282.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14282.1; Type=Frameshift; Positions=397; Evidence={ECO:0000305}; Sequence=BAB15653.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55126.1; Type=Frameshift; Positions=48; Evidence={ECO:0000305};

    Alternative splice isoforms for RIC8A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIC8A Gene

Post-translational modifications for RIC8A Gene

  • Ubiquitination at Lys409 and Lys353
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RIC8A Gene

Domains & Families for RIC8A Gene

Gene Families for RIC8A Gene

Protein Domains for RIC8A Gene

Suggested Antigen Peptide Sequences for RIC8A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPQ8

UniProtKB/Swiss-Prot:

RIC8A_HUMAN :
  • Belongs to the synembryn family.
Family:
  • Belongs to the synembryn family.
genes like me logo Genes that share domains with RIC8A: view

Function for RIC8A Gene

Molecular function for RIC8A Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex (By similarity). Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation.

Phenotypes From GWAS Catalog for RIC8A Gene

Gene Ontology (GO) - Molecular Function for RIC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding IBA --
GO:0005085 guanyl-nucleotide exchange factor activity IBA --
GO:0005096 GTPase activator activity IBA --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RIC8A: view
genes like me logo Genes that share phenotypes with RIC8A: view

Animal Models for RIC8A Gene

MGI Knock Outs for RIC8A:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RIC8A Gene

Localization for RIC8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIC8A Gene

Cytoplasm. Cell membrane. Note=Colocalizes with RIC8A in CA2 hippocampal neurons. Colocalizes with GNAI1 and RGS14 at the plasma membrane (By similarity). {ECO:0000250}.

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 RIC8A gene
Compartment Confidence
plasma membrane 5
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RIC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,ISS --
GO:0005886 plasma membrane IBA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RIC8A: view

Pathways & Interactions for RIC8A Gene

SuperPathways for RIC8A Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001944 vasculature development IEA --
GO:0007186 G-protein coupled receptor signaling pathway IBA --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA --
GO:0007369 gastrulation IEA --
genes like me logo Genes that share ontologies with RIC8A: view

No data available for Pathways by source and SIGNOR curated interactions for RIC8A Gene

Drugs & Compounds for RIC8A Gene

(3) Drugs for RIC8A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RIC8A: view

Transcripts for RIC8A Gene

Unigene Clusters for RIC8A Gene

Resistance to inhibitors of cholinesterase 8 homolog A (C. elegans):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIC8A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ·
SP1: - - - - - -
SP2: - -
SP3:
SP4: -
SP5: - - - - - - - - - - -
SP6:
SP7: - -
SP8: - - -
SP9: - - - - -
SP10: - - - -
SP11: - -
SP12:

ExUns: 12d · 12e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RIC8A Gene

GeneLoc Exon Structure for
RIC8A
ECgene alternative splicing isoforms for
RIC8A

Expression for RIC8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RIC8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RIC8A Gene

This gene is overexpressed in Bone (43.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RIC8A Gene



Protein tissue co-expression partners for RIC8A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RIC8A Gene:

RIC8A

SOURCE GeneReport for Unigene cluster for RIC8A Gene:

Hs.592292

Evidence on tissue expression from TISSUES for RIC8A Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Skin(3.8)
  • Lung(3)
  • Kidney(2.8)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with RIC8A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIC8A Gene

Orthologs for RIC8A Gene

This gene was present in the common ancestor of animals.

Orthologs for RIC8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIC8A 34 33
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RIC8A 34 33
  • 87.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RIC8A 34 33
  • 87.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ric8 34 33
  • 85.47 (n)
OneToOne
Ric8a 16
rat
(Rattus norvegicus)
Mammalia Ric8a 33
  • 85.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RIC8A 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIC8A 34 33
  • 70.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIC8A 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ric8a 33
  • 62.94 (n)
MGC76200 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22237 33
zebrafish
(Danio rerio)
Actinopterygii ric8a 34 33
  • 61.64 (n)
OneToOne
Dr.11062 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010793 33
  • 50.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta ric8a 34 33
  • 49.35 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ric-8 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2446 34
  • 30 (a)
OneToMany
Species where no ortholog for RIC8A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RIC8A Gene

ENSEMBL:
Gene Tree for RIC8A (if available)
TreeFam:
Gene Tree for RIC8A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIC8A: view image

Paralogs for RIC8A Gene

Paralogs for RIC8A Gene

(1) SIMAP similar genes for RIC8A Gene using alignment to 8 proteins:

  • RIC8A_HUMAN
  • E9PI04_HUMAN
  • E9PLE5_HUMAN
  • E9PMP0_HUMAN
  • E9PSI0_HUMAN
  • H0YC88_HUMAN
  • H0YE35_HUMAN
  • H0YEN0_HUMAN
genes like me logo Genes that share paralogs with RIC8A: view

Variants for RIC8A Gene

Sequence variations from dbSNP and Humsavar for RIC8A Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000026443 -- 209,151(+) G/A intron_variant
rs1000072392 -- 214,932(+) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1000121608 -- 210,790(+) G/A intron_variant
rs1000463030 -- 208,998(+) G/A/C/T intron_variant
rs1000586469 -- 206,898(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RIC8A Gene

Variant ID Type Subtype PubMed ID
dgv1010n100 CNV gain 25217958
dgv1011n100 CNV gain 25217958
dgv1012n100 CNV gain 25217958
dgv1505n54 CNV gain 21841781
esv22231 CNV gain 19812545
esv3625060 CNV gain 21293372
esv3625061 CNV gain 21293372
nsv1052484 CNV gain 25217958
nsv467630 CNV gain 19166990
nsv467631 CNV gain 19166990
nsv522596 CNV gain 19592680
nsv552762 CNV gain 21841781
nsv552765 CNV gain 21841781

Variation tolerance for RIC8A Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.55; 95.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIC8A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIC8A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIC8A Gene

Disorders for RIC8A Gene

MalaCards: The human disease database

(1) MalaCards diseases for RIC8A Gene - From: DISEASES

Disorder Aliases PubMed IDs
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search RIC8A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RIC8A

genes like me logo Genes that share disorders with RIC8A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIC8A Gene

Publications for RIC8A Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  2. Ric-8A potentiates Gq-mediated signal transduction by acting downstream of G protein-coupled receptor in intact cells. (PMID: 16629901) Nishimura A … Itoh H (Genes to cells : devoted to molecular & cellular mechanisms 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. RIC-8 (Synembryn): a novel conserved protein that is required for G(q)alpha signaling in the C. elegans nervous system. (PMID: 10985349) Miller KG … Rand JB (Neuron 2000) 2 3 58

Products for RIC8A Gene

Sources for RIC8A Gene

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