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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
  • RasGEF Domain Family, Member 1B 3
  • GPI-Gamma 4 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. 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 RASGEF1A.

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).

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

Genomics for RASGEF1B Gene

Regulatory Elements for RASGEF1B Gene

Enhancers for RASGEF1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RASGEF1B on UCSC Golden Path with GeneCards custom track

Promoters for RASGEF1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RASGEF1B on UCSC Golden Path with GeneCards custom track

Genomic Location for RASGEF1B Gene

81,426,393 bp from pter
82,044,244 bp from pter
617,852 bases
Minus strand

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

    Protein attributes for RASGEF1B Gene

    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


neXtProt entry for RASGEF1B Gene

Proteomics data for RASGEF1B Gene at MOPED

Post-translational modifications for RASGEF1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RASGEF1B Gene

Domains & Families for RASGEF1B Gene

Suggested Antigen Peptide Sequences for RASGEF1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 N-terminal Ras-GEF domain.
  • Contains 1 N-terminal Ras-GEF domain.
  • Contains 1 Ras-GEF domain.
genes like me logo Genes that share domains with RASGEF1B: view

No data available for Gene Families 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).
genes like me logo Genes that share phenotypes with RASGEF1B: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Jensen Localization Image for RASGEF1B Gene COMPARTMENTS Subcellular localization image for RASGEF1B gene
Compartment Confidence
cytosol 3
endosome 3
nucleus 3

Gene Ontology (GO) - Cellular Components for RASGEF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005769 early endosome 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


Gene Ontology (GO) - Biological Process for RASGEF1B Gene


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:

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: -

Relevant External Links for RASGEF1B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RASGEF1B Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for RASGEF1B Gene

SOURCE GeneReport for Unigene cluster for RASGEF1B Gene Hs.591696

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

Protein tissue co-expression partners for RASGEF1B Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
(Bos Taurus)
Mammalia RASGEF1B 35
  • 92.73 (n)
  • 98.73 (a)
  • 99 (a)
(Canis familiaris)
Mammalia RASGEF1B 35
  • 93.43 (n)
  • 98.31 (a)
  • 98 (a)
(Mus musculus)
Mammalia Rasgef1b 35
  • 87.32 (n)
  • 97.46 (a)
Rasgef1b 16
Rasgef1b 36
  • 97 (a)
(Pan troglodytes)
Mammalia RASGEF1B 35
  • 99.86 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Rasgef1b 35
  • 86.47 (n)
  • 95.35 (a)
(Monodelphis domestica)
Mammalia RASGEF1B 36
  • 91 (a)
(Gallus gallus)
Aves RASGEF1B 35
  • 82.42 (n)
  • 92.8 (a)
  • 85 (a)
(Anolis carolinensis)
Reptilia RASGEF1B 36
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rasgef1b 35
  • 78.67 (n)
  • 87.08 (a)
(Danio rerio)
Actinopterygii -- 35
rasgef1ba 35
  • 73.31 (n)
  • 85.59 (a)
rasgef1ba 36
  • 79 (a)
rasgef1bb 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7369 35
  • 54.91 (n)
  • 51.83 (a)
CG4853 36
  • 25 (a)
CG7369 36
  • 35 (a)
(Caenorhabditis elegans)
Secernentea R05G6.10 35
  • 51.25 (n)
  • 40.14 (a)
R05G6.10 36
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
Species with no ortholog for RASGEF1B:
  • 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

Gene Tree for RASGEF1B (if available)
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 Sequence Context AA Info Type
rs895086 -- 81,460,159(+) TATCT(A/G)TAAAG intron-variant
rs748436 -- 81,460,473(-) AGTCC(A/G)TAGCT intron-variant
rs755527 -- 81,447,082(+) CAAAG(C/T)AGTCA intron-variant
rs1031166 -- 81,468,022(+) ttaaa(A/C/T)tttgt intron-variant
rs1035006 -- 81,432,717(-) CTCAG(A/G)CTACC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829985 CNV Loss 17160897
nsv4404 CNV Loss 18451855
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)

Relevant External Links for RASGEF1B Gene

Human Gene Mutation Database (HGMD)

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: DISEASES

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

Relevant External Links for RASGEF1B

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 U.H. (FEBS J. 2009) 2 3 4 67
  2. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3
  3. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3
  4. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism. (PMID: 22303795) Lipska B.S. … Limon J. (Genet. Couns. 2011) 3
  5. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3

Products for RASGEF1B Gene

Sources for RASGEF1B Gene