Aliases for RERGL Gene

Aliases for RERGL Gene

  • RERG Like 2 3 5
  • Ras-Related And Estrogen-Regulated Growth Inhibitor-Like Protein 3 4
  • RERG/RAS-Like 2 3
  • RERG/Ras-Like Protein 4
  • FLJ22655 2
  • RERGL 5

External Ids for RERGL Gene

Previous GeneCards Identifiers for RERGL Gene

  • GC12M018126
  • GC12M018233
  • GC12M018002

Summaries for RERGL Gene

GeneCards Summary for RERGL Gene

RERGL (RERG Like) is a Protein Coding gene. Diseases associated with RERGL include Episodic Ataxia, Type 4 and Viral Labyrinthitis. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is RASL11A.

UniProtKB/Swiss-Prot Summary for RERGL Gene

Additional gene information for RERGL Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RERGL Gene

Genomics for RERGL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RERGL 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
GH12J018320 Enhancer 0.8 Ensembl ENCODE 600.7 -0.1 -94 1.2 CTCF TEAD4 FOXA1 CEBPA CEBPB ETS1 ZBTB48 TEAD1 RAD21 GATA3 RERGL piR-38351-092 PIK3C2G PLCZ1
GH12J018090 Promoter 0.3 EPDnew 600.1 +229.9 229894 0.1 RERGL piR-33142-007 HSALNG0089656 PIK3C2G
GH12J018242 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.8 +77.3 77346 0.7 GATAD2A REST TFE3 RCOR2 SP1 CEBPA SOX13 TCF7 FOXA1 NFE2 PIK3C2G RERGL piR-40110-122
GH12J018258 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 11.1 +56.4 56408 9.4 SP1 JUND CTBP1 ATF3 YY1 ZNF217 CUX1 NR2F2 GATA3 DPF2 RERGL PIK3C2G
GH12J018275 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.2 +43.7 43728 2.4 TCF7L2 FOXA1 FOXA2 FOSL2 JUND PIK3C2G RERGL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RERGL on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the RERGL gene promoter:
  • CREB
  • Evi-1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • TBP

Genomic Locations for RERGL Gene

Genomic Locations for RERGL Gene
chr12:18,080,869-18,320,107
(GRCh38/hg38)
Size:
239,239 bases
Orientation:
Minus strand
chr12:18,233,803-18,473,041
(GRCh37/hg19)
Size:
239,239 bases
Orientation:
Minus strand

Genomic View for RERGL Gene

Genes around RERGL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RERGL Gene

Proteins for RERGL Gene

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

    Protein Symbol:
    Q9H628-RERGL_HUMAN
    Recommended name:
    Ras-related and estrogen-regulated growth inhibitor-like protein
    Protein Accession:
    Q9H628

    Protein attributes for RERGL Gene

    Size:
    205 amino acids
    Molecular mass:
    23855 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RERGL Gene

Post-translational modifications for RERGL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RERGL Gene

No data available for DME Specific Peptides for RERGL Gene

Domains & Families for RERGL Gene

Gene Families for RERGL Gene

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

Protein Domains for RERGL Gene

Suggested Antigen Peptide Sequences for RERGL Gene

GenScript: Design optimal peptide antigens:
  • RERG/Ras-like protein (RERGL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H628

UniProtKB/Swiss-Prot:

RERGL_HUMAN :
  • Belongs to the small GTPase superfamily. Ras family.
Family:
  • Belongs to the small GTPase superfamily. Ras family.
genes like me logo Genes that share domains with RERGL: view

Function for RERGL Gene

Molecular function for RERGL Gene

UniProtKB/Swiss-Prot Function:
Binds GDP/GTP and may possess intrinsic GTPase activity.

Phenotypes From GWAS Catalog for RERGL Gene

Gene Ontology (GO) - Molecular Function for RERGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RERGL: view
genes like me logo Genes that share phenotypes with RERGL: view

Animal Model Products

CRISPR Products

miRNA for RERGL Gene

miRTarBase miRNAs that target RERGL

Inhibitory RNA Products

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

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

Localization for RERGL 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 RERGL gene
Compartment Confidence
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RERGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RERGL: view

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

Pathways & Interactions for RERGL Gene

PathCards logo

SuperPathways for RERGL Gene

No Data Available

Gene Ontology (GO) - Biological Process for RERGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with RERGL: view

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

Drugs & Compounds for RERGL Gene

No Compound Related Data Available

Transcripts for RERGL Gene

mRNA/cDNA for RERGL Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 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 RERGL

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for RERGL Gene

GeneLoc Exon Structure for
RERGL

Expression for RERGL Gene

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

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

This gene is overexpressed in Artery - Tibial (x11.8).

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

SOURCE GeneReport for Unigene cluster for RERGL Gene:

Hs.732831

Evidence on tissue expression from TISSUES for RERGL Gene

  • Nervous system(4.3)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with RERGL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RERGL Gene

Orthologs for RERGL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RERGL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RERGL 30 31
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RERGL 30 31
  • 92.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RERGL 30 31
  • 91.18 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rergl 30 17 31
  • 85.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rergl 30
  • 85.13 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RERGL 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RERGL 30 31
  • 72.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RERGL 31
  • 70 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rergla 30 31
  • 63.56 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008989 30
  • 48.29 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y71F9AR.2 31
  • 22 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RHB1 31
  • 22 (a)
OneToMany
Species where no ortholog for RERGL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RERGL Gene

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

Paralogs for RERGL Gene

(14) SIMAP similar genes for RERGL Gene using alignment to 3 proteins:

  • RERGL_HUMAN
  • F5H686_HUMAN
  • G5EA41_HUMAN
genes like me logo Genes that share paralogs with RERGL: view

Variants for RERGL Gene

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

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
714175 Benign: not provided 18,085,682(-) TATAG/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs193920908 Uncertain Significance: Malignant tumor of prostate 18,081,394(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs941048 - p.Met163Val

Additional dbSNP identifiers (rs#s) for RERGL Gene

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

Variant ID Type Subtype PubMed ID
dgv1396n100 CNV loss 25217958
esv2761726 CNV loss 21179565
esv3892152 CNV gain 25118596
nsv1038422 CNV loss 25217958
nsv1050900 CNV loss 25217958
nsv557665 CNV loss 21841781
nsv557666 CNV loss 21841781
nsv625 CNV insertion 18451855

Variation tolerance for RERGL Gene

Residual Variation Intolerance Score: 92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RERGL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RERGL Gene

MalaCards: The human disease database

(8) MalaCards diseases for RERGL Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RERGL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RERGL

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

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

Publications for RERGL Gene

  1. Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. (PMID: 24127187) Yang R … Burwinkel B (Carcinogenesis 2014) 2 3
  2. Identification of genes related to Parkinson's disease using expressed sequence tags. (PMID: 17213182) Kim JM … Kim NS (DNA research : an international journal for rapid publication of reports on genes and genomes 2006) 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4
  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) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for RERGL Gene

Sources for RERGL Gene