Aliases for RALGAPB Gene

Aliases for RALGAPB Gene

  • Ral GTPase Activating Protein Non-Catalytic Subunit Beta 2 3 5
  • KIAA1219 2 3 4
  • Ral GTPase-Activating Protein Subunit Beta 3 4
  • RalGAPbeta 2 3
  • Ral GTPase Activating Protein, Beta Subunit (Non-Catalytic) 3
  • Ral GTPase Activating Protein Non-Catalytic Beta Subunit 3
  • DKFZp781M2411 2
  • RALGAPB 5
  • P170 4

External Ids for RALGAPB Gene

Previous HGNC Symbols for RALGAPB Gene

  • KIAA1219

Previous GeneCards Identifiers for RALGAPB Gene

  • GC20P036535
  • GC20P037102
  • GC20P033838

Summaries for RALGAPB Gene

GeneCards Summary for RALGAPB Gene

RALGAPB (Ral GTPase Activating Protein Non-Catalytic Subunit Beta) is a Protein Coding gene. Diseases associated with RALGAPB include Tubulinopathies and Septooptic Dysplasia. Among its related pathways are Vesicle-mediated transport and Translocation of GLUT4 to the plasma membrane. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and GTPase activator activity.

UniProtKB/Swiss-Prot Summary for RALGAPB Gene

  • Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.

Gene Wiki entry for RALGAPB Gene

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

Genomics for RALGAPB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RALGAPB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for RALGAPB Gene

Latest Assembly
chr20:38,472,816-38,578,861
(GRCh38/hg38)
Size:
106,046 bases
Orientation:
Plus strand

Previous Assembly
chr20:37,101,486-37,207,501
(GRCh37/hg19 by Entrez Gene)
Size:
106,016 bases
Orientation:
Plus strand

chr20:37,101,459-37,207,504
(GRCh37/hg19 by Ensembl)
Size:
106,046 bases
Orientation:
Plus strand

Genomic View for RALGAPB Gene

Genes around RALGAPB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RALGAPB Gene

Proteins for RALGAPB Gene

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

    Protein Symbol:
    Q86X10-RLGPB_HUMAN
    Recommended name:
    Ral GTPase-activating protein subunit beta
    Protein Accession:
    Q86X10
    Secondary Accessions:
    • A2A2E8
    • A2A2E9
    • Q5TG31
    • Q8N3D1
    • Q8WWC0
    • Q9H3X8
    • Q9UJR1
    • Q9ULK1
    • Q9Y3G9

    Protein attributes for RALGAPB Gene

    Size:
    1494 amino acids
    Molecular mass:
    166799 Da
    Quaternary structure:
    • Component of the heterodimeric RalGAP1 complex with RALGAPA1 and of the heterodimeric RalGAP2 complex with RALGAPA2. Heterodimerization is required for activity (By similarity).
    SequenceCaution:
    • Sequence=BAA86533.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85649.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB61346.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD39096.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be due to a competing acceptor splice site.
    • [Isoform 3]: May be due to a competing acceptor splice site.
    • [Isoform 4]: Splicing acceptor site is not canonical.

    Alternative splice isoforms for RALGAPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RALGAPB Gene

Post-translational modifications for RALGAPB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RALGAPB Gene

Domains & Families for RALGAPB Gene

Gene Families for RALGAPB Gene

Protein Domains for RALGAPB Gene

InterPro:
Blocks:
  • Rap/ran-GAP
ProtoNet:

Suggested Antigen Peptide Sequences for RALGAPB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61546 (B4E2E8_HUMAN)
  • p170 (RLGPB_HUMAN)
genes like me logo Genes that share domains with RALGAPB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RALGAPB Gene

Function for RALGAPB Gene

Molecular function for RALGAPB Gene

UniProtKB/Swiss-Prot Function:
Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.

Phenotypes From GWAS Catalog for RALGAPB Gene

Gene Ontology (GO) - Molecular Function for RALGAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,ISS --
GO:0005515 protein binding IPI 32296183
GO:0046982 protein heterodimerization activity ISS --
genes like me logo Genes that share ontologies with RALGAPB: view
genes like me logo Genes that share phenotypes with RALGAPB: view

Animal Models for RALGAPB Gene

MGI Knock Outs for RALGAPB:

Inhibitory RNAs for research

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

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

Localization for RALGAPB 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 RALGAPB gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RALGAPB Gene

Pathways & Interactions for RALGAPB Gene

genes like me logo Genes that share pathways with RALGAPB: view

Pathways by source for RALGAPB Gene

1 GeneTex pathway for RALGAPB Gene

Gene Ontology (GO) - Biological Process for RALGAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction IEA --
GO:0090630 activation of GTPase activity ISS --
genes like me logo Genes that share ontologies with RALGAPB: view

No data available for SIGNOR curated interactions for RALGAPB Gene

Drugs & Compounds for RALGAPB Gene

(1) Drugs for RALGAPB Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
RBC8 Pharma 0

(1) ApexBio Compounds for RALGAPB Gene

Compound Action Cas Number
RBC8 361185-42-4
genes like me logo Genes that share compounds with RALGAPB: view

Drug products for research

Transcripts for RALGAPB Gene

mRNA/cDNA for RALGAPB Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b
SP1: -
SP2: -
SP3: -
SP4:
SP5:

Relevant External Links for RALGAPB Gene

GeneLoc Exon Structure for
RALGAPB

Expression for RALGAPB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RALGAPB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.7), Testis (7.0), and Frontal cortex (6.2).

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



Protein tissue co-expression partners for RALGAPB Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for RALGAPB Gene:

Hs.598850

mRNA Expression by UniProt/SwissProt for RALGAPB Gene:

Q86X10-RLGPB_HUMAN
Tissue specificity: Highly expressed in brain, mostly in amygdala.

Evidence on tissue expression from TISSUES for RALGAPB Gene

  • Nervous system(4.7)
  • Lung(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RALGAPB: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RALGAPB Gene

Orthologs for RALGAPB Gene

This gene was present in the common ancestor of animals.

Orthologs for RALGAPB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RALGAPB 30 31
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RALGAPB 30 31
  • 95.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RALGAPB 30 31
  • 94.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ralgapb 30 17 31
  • 92.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ralgapb 30
  • 92.12 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RALGAPB 31
  • 92 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RALGAPB 31
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RALGAPB 30 31
  • 81.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RALGAPB 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ralgapb 30
  • 73.76 (n)
Str.20424 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16058 30
Zebrafish
(Danio rerio)
Actinopterygii ralgapb 30 31
  • 69.31 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG34408 30 31
  • 50.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007925 30
  • 50.56 (n)
Worm
(Caenorhabditis elegans)
Secernentea D2085.5 30 31
  • 40.9 (n)
OneToMany
C34C6.2 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1742 31
  • 45 (a)
OneToOne
Species where no ortholog for RALGAPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 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 RALGAPB Gene

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

Paralogs for RALGAPB Gene

(1) SIMAP similar genes for RALGAPB Gene using alignment to 5 proteins:

  • RLGPB_HUMAN
  • A2A2E9_HUMAN
  • A2A2F0_HUMAN
  • B4E2E8_HUMAN
  • G1UI28_HUMAN
genes like me logo Genes that share paralogs with RALGAPB: view

No data available for Paralogs for RALGAPB Gene

Variants for RALGAPB Gene

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

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1225426795 Uncertain Significance: Severe Myopia 38,517,841(+) T/C
NM_020336.4(RALGAPB):c.1258T>C (p.Ser420Pro)
MISSENSE
rs139543103 Benign: not provided 38,570,800(+) G/A
NM_020336.4(RALGAPB):c.4095G>A (p.Glu1365=)
SYNONYMOUS
rs756555782 Uncertain Significance: Marfanoid habitus and intellectual disability 38,497,420(+) C/T
NM_020336.4(RALGAPB):c.457C>T (p.Arg153Cys)
MISSENSE
rs758022116 Likely Pathogenic: Septo-optic dysplasia sequence 38,535,152(+) G/T
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RALGAPB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2359941 CNV deletion 18987734
esv2581563 CNV deletion 19546169
esv2624452 CNV deletion 19546169
esv2722399 CNV deletion 23290073
esv2758794 CNV gain 17122850
esv3557054 CNV deletion 23714750
nsv1058457 CNV loss 25217958
nsv1114214 CNV deletion 24896259
nsv1127836 CNV deletion 24896259
nsv179180 CNV deletion 16902084
nsv509769 CNV insertion 20534489

Variation tolerance for RALGAPB Gene

Residual Variation Intolerance Score: 3.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RALGAPB Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for RALGAPB Gene

MalaCards: The human disease database

(2) MalaCards diseases for RALGAPB Gene - From: CVR

Disorder Aliases PubMed IDs
tubulinopathies
  • tubulin-related cortical dysgenesis
septooptic dysplasia
  • de morsier syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RALGAPB

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

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

Publications for RALGAPB Gene

  1. Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. (PMID: 19520869) Shirakawa R … Horiuchi H (The Journal of biological chemistry 2009) 2 3
  2. Adipocytes contain a novel complex similar to the tuberous sclerosis complex. (PMID: 16490346) Gridley S … Lienhard GE (Cellular signalling 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 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) 3 4
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4

Products for RALGAPB Gene

Sources for RALGAPB Gene