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Aliases for RUNDC3A Gene

Aliases for RUNDC3A Gene

  • RUN Domain Containing 3A 2 3 5
  • Rap2-Interacting Protein 8 3 4
  • RAP2IP 3 4
  • RPIP-8 3 4
  • RPIP8 3 4
  • RUN Domain-Containing Protein 3A 3
  • RaP2 Interacting Protein 8 3

External Ids for RUNDC3A Gene

Previous GeneCards Identifiers for RUNDC3A Gene

  • GC17P039743
  • GC17P042385
  • GC17P038149

Summaries for RUNDC3A Gene

GeneCards Summary for RUNDC3A Gene

RUNDC3A (RUN Domain Containing 3A) is a Protein Coding gene. Diseases associated with RUNDC3A include Rectum Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include GTPase regulator activity and guanylate cyclase activator activity. An important paralog of this gene is RUNDC3B.

UniProtKB/Swiss-Prot for RUNDC3A Gene

  • May act as an effector of RAP2A in neuronal cells.

Gene Wiki entry for RUNDC3A Gene

Additional gene information for RUNDC3A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUNDC3A Gene

Genomics for RUNDC3A Gene

GeneHancer (GH) Regulatory Elements for RUNDC3A Gene

Promoters and enhancers for RUNDC3A 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
GH17J044307 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 509 2 HDGF ATF1 ZFP64 ARID4B SIN3A ZBTB7B ZNF48 SLC30A9 ZNF766 GLIS2 RUNDC3A RNU6-453P TMUB2 MAP3K14-AS1 LINC00910 ENSG00000224505 HEXIM1 DHX8 C17orf53 GRN
GH17J044344 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 +39.2 39240 5.5 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 POLR2B GRN UBTF SLC25A39 MEOX1 C17orf53 RUNDC3A-AS1 TMUB2 MAP3K14-AS1 LSM12 RUNDC3A
GH17J044281 Enhancer 0.9 FANTOM5 dbSUPER 1.6 -26.1 -26134 0.3 HDGF MEIS2 PKNOX1 TEAD4 TAL1 TCF12 MTA3 GATA2 NCOR1 CBFA2T2 ENSG00000285486 SLC4A1 SLC25A39 UBTF RUNDC3A GC17M044291 RN7SL507P
GH17J044268 Enhancer 0.8 FANTOM5 ENCODE 1.7 -38.0 -38014 2.8 GLIS2 POLR2A IKZF1 ZNF341 VEZF1 CEBPB CBFA2T2 REST SLC4A1 GRN SLC25A39 UBTF RUNDC3A LOC105371790
GH17J044314 Enhancer 1 Ensembl ENCODE 0.4 +7.8 7755 2.5 PKNOX1 SIN3A YBX1 KLF14 ZNF335 GLIS2 SP3 CEBPB ZNF398 ZEB2 RUNDC3A-AS1 SLC25A39 GC17M044320 RUNDC3A GC17P044298 GC17P044299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RUNDC3A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RUNDC3A gene promoter:
  • C/EBPalpha
  • FAC1
  • Lmo2
  • deltaCREB
  • CREB
  • RORalpha1
  • GATA-2
  • NF-kappaB
  • NF-kappaB1
  • Roaz

Genomic Locations for RUNDC3A Gene

Genomic Locations for RUNDC3A Gene
chr17:44,307,918-44,318,671
(GRCh38/hg38)
Size:
10,754 bases
Orientation:
Plus strand
chr17:42,385,781-42,396,039
(GRCh37/hg19)
Size:
10,259 bases
Orientation:
Plus strand

Genomic View for RUNDC3A Gene

Genes around RUNDC3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUNDC3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUNDC3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUNDC3A Gene

Proteins for RUNDC3A Gene

  • Protein details for RUNDC3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q59EK9-RUN3A_HUMAN
    Recommended name:
    RUN domain-containing protein 3A
    Protein Accession:
    Q59EK9
    Secondary Accessions:
    • B2R974
    • O15483
    • O60651
    • Q7Z3S2
    • Q9UF50

    Protein attributes for RUNDC3A Gene

    Size:
    446 amino acids
    Molecular mass:
    49747 Da
    Quaternary structure:
    • Interacts with the GTP-bound form of RAP2A.
    SequenceCaution:
    • Sequence=BAD93039.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RUNDC3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUNDC3A Gene

Post-translational modifications for RUNDC3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RUNDC3A Gene

Domains & Families for RUNDC3A Gene

Gene Families for RUNDC3A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RUNDC3A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RUNDC3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q59EK9

UniProtKB/Swiss-Prot:

RUN3A_HUMAN :
  • Belongs to the RUNDC3 family.
Family:
  • Belongs to the RUNDC3 family.
genes like me logo Genes that share domains with RUNDC3A: view

Function for RUNDC3A Gene

Molecular function for RUNDC3A Gene

UniProtKB/Swiss-Prot Function:
May act as an effector of RAP2A in neuronal cells.

Gene Ontology (GO) - Molecular Function for RUNDC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0030250 guanylate cyclase activator activity IEA --
GO:0030695 GTPase regulator activity TAS 9523700
GO:0035091 phosphatidylinositol binding IBA --
GO:0051428 peptide hormone receptor binding IEA --
genes like me logo Genes that share ontologies with RUNDC3A: view
genes like me logo Genes that share phenotypes with RUNDC3A: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RUNDC3A Gene

Localization for RUNDC3A 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 RUNDC3A gene
Compartment Confidence
cytosol 3
plasma membrane 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RUNDC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with RUNDC3A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RUNDC3A Gene

Pathways & Interactions for RUNDC3A Gene

SuperPathways for RUNDC3A Gene

No Data Available

Gene Ontology (GO) - Biological Process for RUNDC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS 9523700
GO:0030828 positive regulation of cGMP biosynthetic process IEA --
GO:0031284 positive regulation of guanylate cyclase activity IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with RUNDC3A: view

No data available for Pathways by source and SIGNOR curated interactions for RUNDC3A Gene

Drugs & Compounds for RUNDC3A Gene

(1) Drugs for RUNDC3A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RUNDC3A: view

Transcripts for RUNDC3A Gene

mRNA/cDNA for RUNDC3A Gene

Unigene Clusters for RUNDC3A Gene

RUN domain containing 3A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RUNDC3A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6: - -
SP7: -

Relevant External Links for RUNDC3A Gene

GeneLoc Exon Structure for
RUNDC3A
ECgene alternative splicing isoforms for
RUNDC3A

Expression for RUNDC3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RUNDC3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RUNDC3A Gene

This gene is overexpressed in Brain - Cortex (x6.1), Brain - Frontal Cortex (BA9) (x5.2), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Hippocampus (x4.5), and Brain - Amygdala (x4.4).

Protein differential expression in normal tissues from HIPED for RUNDC3A Gene

This gene is overexpressed in Frontal cortex (32.3), Fetal Brain (17.7), and Retina (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RUNDC3A Gene



Protein tissue co-expression partners for RUNDC3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RUNDC3A Gene:

RUNDC3A

SOURCE GeneReport for Unigene cluster for RUNDC3A Gene:

Hs.500197

Evidence on tissue expression from TISSUES for RUNDC3A Gene

  • Nervous system(4.9)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with RUNDC3A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RUNDC3A Gene

Orthologs for RUNDC3A Gene

This gene was present in the common ancestor of animals.

Orthologs for RUNDC3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUNDC3A 34 33
  • 97.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RUNDC3A 34 33
  • 94.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RUNDC3A 34 33
  • 93.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rundc3a 16 34 33
  • 90.96 (n)
rat
(Rattus norvegicus)
Mammalia Rundc3a 33
  • 90.81 (n)
oppossum
(Monodelphis domestica)
Mammalia RUNDC3A 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUNDC3A 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves RUNDC3A 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUNDC3A 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rundc3a 33
  • 74.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15517 33
zebrafish
(Danio rerio)
Actinopterygii RUNDC3A (2 of 2) 34
  • 72 (a)
OneToMany
rundc3ab 34 33
  • 69.24 (n)
OneToMany
zgc55922 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6033 33
fruit fly
(Drosophila melanogaster)
Insecta CG31064 34
  • 11 (a)
OneToMany
Species where no ortholog for RUNDC3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RUNDC3A Gene

ENSEMBL:
Gene Tree for RUNDC3A (if available)
TreeFam:
Gene Tree for RUNDC3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RUNDC3A: view image

Paralogs for RUNDC3A Gene

Paralogs for RUNDC3A Gene

(2) SIMAP similar genes for RUNDC3A Gene using alignment to 1 proteins:

  • RUN3A_HUMAN
genes like me logo Genes that share paralogs with RUNDC3A: view

Variants for RUNDC3A Gene

Sequence variations from dbSNP and Humsavar for RUNDC3A Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000305802 -- 44,311,959(+) C/T intron_variant
rs1000564459 -- 44,316,969(+) C/G intron_variant
rs1000737370 -- 44,317,394(+) C/A/G intron_variant
rs1000755048 -- 44,310,583(+) T/G intron_variant
rs1000808975 -- 44,310,620(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RUNDC3A Gene

Variant ID Type Subtype PubMed ID
nsv1127576 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv2061 CNV insertion 18451855
nsv510713 CNV deletion 20534489

Variation tolerance for RUNDC3A Gene

Gene Damage Index Score: 1.60; 30.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RUNDC3A Gene

Human Gene Mutation Database (HGMD)
RUNDC3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUNDC3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUNDC3A Gene

Disorders for RUNDC3A Gene

MalaCards: The human disease database

(1) MalaCards diseases for RUNDC3A Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
rectum adenocarcinoma
  • adenocarcinoma of rectum
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RUNDC3A

genes like me logo Genes that share disorders with RUNDC3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RUNDC3A Gene

Publications for RUNDC3A Gene

  1. Identification of a specific effector of the small GTP-binding protein Rap2. (PMID: 9523700) Janoueix-Lerosey I … de Gunzburg J (European journal of biochemistry 1998) 2 3 4 22 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H … Vidal M (Nature methods 2011) 3 58
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 58

Products for RUNDC3A Gene

Sources for RUNDC3A Gene

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