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Aliases for RASGEF1B Gene

Aliases for RASGEF1B Gene

  • RasGEF Domain Family Member 1B 2 3 5
  • GPI Gamma-4 3 4
  • GPIG4 3 4
  • Ras-GEF Domain-Containing Family Member 1B 3

External Ids for RASGEF1B Gene

Previous GeneCards Identifiers for RASGEF1B Gene

  • GC04M082806
  • GC04M082705
  • GC04M082567
  • GC04M082348
  • GC04M078092

Summaries for RASGEF1B Gene

GeneCards Summary for RASGEF1B Gene

RASGEF1B (RasGEF Domain Family Member 1B) is a Protein Coding gene. Diseases associated with RASGEF1B include Chromosome 4Q21 Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Ras guanyl-nucleotide exchange factor activity. An important paralog of this gene is RASGEF1C.

UniProtKB/Swiss-Prot for RASGEF1B Gene

  • Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesnt seems to activate other Ras family proteins (in vitro).

Additional gene information for RASGEF1B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASGEF1B Gene

Genomics for RASGEF1B Gene

GeneHancer (GH) Regulatory Elements for RASGEF1B Gene

Promoters and enhancers for RASGEF1B 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
GH04I081469 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 584.3 +572.6 572571 3.9 PKNOX1 FOXA2 ATF1 SIN3A YY1 GLIS2 ZNF213 ZNF143 REST ZNF623 RASGEF1B LOC105377306 PIR49163
GH04I082042 Promoter/Enhancer 1.3 Ensembl ENCODE 550.8 +0.6 580 3.2 KLF17 SIN3A FEZF1 ZNF2 ZNF335 GLIS2 EGR2 SP3 SP5 CEBPB RASGEF1B ENSG00000252762 NPM1P41 GC04P081920
GH04I081508 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 41.3 +534.8 534759 1.4 ZNF316 MAFG BATF RUNX3 MAFK EMSY RASGEF1B LOC105377306 GC04M081523
GH04I081503 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 30.3 +538.8 538829 3.3 HDGF USF1 ETV1 ZSCAN4 EBF1 CDC5L BATF RAD21 RELA ZNF791 RASGEF1B HNRNPD HNRNPDL LOC105377306 GC04M081523
GH04I081490 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 31.5 +551.2 551170 5.5 RAD21 ZNF217 POLR2A NFATC1 IKZF1 FOS IKZF2 RUNX3 SPI1 RASGEF1B LOC105377306 PIR49163
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RASGEF1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RASGEF1B gene promoter:

Genomic Locations for RASGEF1B Gene

Genomic Locations for RASGEF1B Gene
chr4:81,426,393-82,044,244
(GRCh38/hg38)
Size:
617,852 bases
Orientation:
Minus strand
chr4:82,347,547-82,965,397
(GRCh37/hg19)

Genomic View for RASGEF1B Gene

Genes around RASGEF1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASGEF1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASGEF1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASGEF1B Gene

Proteins for RASGEF1B Gene

  • Protein details for RASGEF1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VAM2-RGF1B_HUMAN
    Recommended name:
    Ras-GEF domain-containing family member 1B
    Protein Accession:
    Q0VAM2
    Secondary Accessions:
    • Q0VAM1
    • Q4W5L7
    • Q4W5M3
    • Q96MY8

    Protein attributes for RASGEF1B Gene

    Size:
    473 amino acids
    Molecular mass:
    55359 Da
    Quaternary structure:
    • Interacts with Ras family proteins (By similarity). Interacts with CCDC124 during cytokinesis.

    Alternative splice isoforms for RASGEF1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASGEF1B Gene

Post-translational modifications for RASGEF1B Gene

No Post-translational modifications

No data available for DME Specific Peptides for RASGEF1B Gene

Domains & Families for RASGEF1B Gene

Gene Families for RASGEF1B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for RASGEF1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RASGEF1B: view

No data available for UniProtKB/Swiss-Prot for RASGEF1B Gene

Function for RASGEF1B Gene

Molecular function for RASGEF1B Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesnt seems to activate other Ras family proteins (in vitro).
UniProtKB/Swiss-Prot Induction:
Up-regulated in macrophages stimulated with IFNG, GPI-mucins or bacterial lipopolysaccharides (LPS).

Phenotypes From GWAS Catalog for RASGEF1B Gene

Gene Ontology (GO) - Molecular Function for RASGEF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity IDA 19645719
genes like me logo Genes that share ontologies with RASGEF1B: view
genes like me logo Genes that share phenotypes with RASGEF1B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RASGEF1B Gene

Localization for RASGEF1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASGEF1B Gene

Early endosome. Late endosome. Midbody. Note=May shuttle between early and late endosomes (By similarity). Localizes to midbody at telophase. {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 RASGEF1B gene
Compartment Confidence
nucleus 3
cytosol 3
endosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASGEF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005770 late endosome IEA --
GO:0030496 midbody IEA --
genes like me logo Genes that share ontologies with RASGEF1B: view

Pathways & Interactions for RASGEF1B Gene

SuperPathways for RASGEF1B Gene

No Data Available

Interacting Proteins for RASGEF1B Gene

SIGNOR curated interactions for RASGEF1B Gene

Activates:

Gene Ontology (GO) - Biological Process for RASGEF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RASGEF1B: view

No data available for Pathways by source for RASGEF1B Gene

Drugs & Compounds for RASGEF1B Gene

(3) Drugs for RASGEF1B 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 RASGEF1B: view

Transcripts for RASGEF1B Gene

Unigene Clusters for RASGEF1B Gene

RasGEF domain family, member 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RASGEF1B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5:

Relevant External Links for RASGEF1B Gene

GeneLoc Exon Structure for
RASGEF1B
ECgene alternative splicing isoforms for
RASGEF1B

Expression for RASGEF1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RASGEF1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASGEF1B Gene

This gene is overexpressed in Liver (x4.5).

Protein differential expression in normal tissues from HIPED for RASGEF1B Gene

This gene is overexpressed in Cervix (59.4) and Heart (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RASGEF1B Gene



Protein tissue co-expression partners for RASGEF1B Gene

NURSA nuclear receptor signaling pathways regulating expression of RASGEF1B Gene:

RASGEF1B

SOURCE GeneReport for Unigene cluster for RASGEF1B Gene:

Hs.591696
genes like me logo Genes that share expression patterns with RASGEF1B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASGEF1B Gene

Orthologs for RASGEF1B Gene

This gene was present in the common ancestor of animals.

Orthologs for RASGEF1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASGEF1B 33 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia RASGEF1B 33 34
  • 93.43 (n)
cow
(Bos Taurus)
Mammalia RASGEF1B 33 34
  • 92.73 (n)
oppossum
(Monodelphis domestica)
Mammalia RASGEF1B 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasgef1b 33 16 34
  • 87.32 (n)
rat
(Rattus norvegicus)
Mammalia Rasgef1b 33
  • 86.47 (n)
chicken
(Gallus gallus)
Aves RASGEF1B 33 34
  • 82.42 (n)
lizard
(Anolis carolinensis)
Reptilia RASGEF1B 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasgef1b 33
  • 78.67 (n)
zebrafish
(Danio rerio)
Actinopterygii rasgef1ba 33 34
  • 73.31 (n)
rasgef1bb 34
  • 70 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG7369 33 34
  • 54.91 (n)
CG4853 34
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R05G6.10 33 34
  • 51.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for RASGEF1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 RASGEF1B Gene

ENSEMBL:
Gene Tree for RASGEF1B (if available)
TreeFam:
Gene Tree for RASGEF1B (if available)

Paralogs for RASGEF1B Gene

(2) SIMAP similar genes for RASGEF1B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RASGEF1B: view

Variants for RASGEF1B Gene

Sequence variations from dbSNP and Humsavar for RASGEF1B Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000035766 -- 81,466,933(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000037505 -- 81,464,761(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000052272 -- 81,436,814(-) T/C intron_variant
rs1000055130 -- 81,460,988(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000071995 -- 81,460,586(-) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RASGEF1B Gene

Variant ID Type Subtype PubMed ID
esv3601152 CNV gain 21293372
esv3601153 CNV gain 21293372
nsv4404 CNV deletion 18451855
nsv829985 CNV loss 17160897
nsv829986 CNV gain+loss 17160897

Variation tolerance for RASGEF1B Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASGEF1B Gene

Human Gene Mutation Database (HGMD)
RASGEF1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASGEF1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASGEF1B Gene

Disorders for RASGEF1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for RASGEF1B Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chromosome 4q21 deletion syndrome
  • 4q21 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RASGEF1B

genes like me logo Genes that share disorders with RASGEF1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASGEF1B Gene

Publications for RASGEF1B Gene

  1. RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange. (PMID: 19645719) Yaman E … Tazebay UH (The FEBS journal 2009) 2 3 4 58
  2. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 44 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. Identification and characterization of a novel mouse gene encoding a Ras-associated guanine nucleotide exchange factor: expression in macrophages and myocarditis elicited by Trypanosoma cruzi parasites. (PMID: 12488504) Ferreira LR … Gazzinelli RT (Journal of leukocyte biology 2002) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RASGEF1B Gene

Sources for RASGEF1B Gene

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