This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct ... See more...

Aliases for RASAL2 Gene

Aliases for RASAL2 Gene

  • RAS Protein Activator Like 2 2 3 5
  • NGAP 2 3 4
  • Ras GTPase-Activating Protein NGAP 3 4
  • Ras Protein Activator Like 1 2 3
  • Ras GTPase Activating Protein-Like 2
  • RAS Protein Activator-Like 2 4
  • RASAL2/ACVR1 Fusion 3
  • RASAL2 5

External Ids for RASAL2 Gene

Previous GeneCards Identifiers for RASAL2 Gene

  • GC01P175834
  • GC01P173491
  • GC01P174643
  • GC01P175303
  • GC01P174795
  • GC01P176329
  • GC01P178063
  • GC01P149291

Summaries for RASAL2 Gene

Entrez Gene Summary for RASAL2 Gene

  • This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for RASAL2 Gene

RASAL2 (RAS Protein Activator Like 2) is a Protein Coding gene. Diseases associated with RASAL2 include Breast Cancer. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is DAB2IP.

UniProtKB/Swiss-Prot Summary for RASAL2 Gene

Gene Wiki entry for RASAL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASAL2 Gene

Genomics for RASAL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RASAL2 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
GH01J178092 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.1 1095 5.6 CREB1 PRDM10 ZNF629 REST RFX1 LEF1 IKZF1 CTCF ZNF692 JUND RASAL2-AS1 RASAL2 ANGPTL1 lnc-SEC16B-6 CLEC20A
GH01J178340 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 607.6 +247.8 247772 2.2 TEAD4 FOXA1 PRDM1 PATZ1 POLR2A ZNF600 ZBTB20 ZXDB ZSCAN5C ZBTB17 RASAL2 LOC105371629 CRYZL2P piR-60816-002 CLEC20A
GH01J178124 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 18.5 +33.3 33327 4.5 ZNF629 TFE3 IRF2 CEBPA KMT2B SOX13 CEBPB ETS1 SP1 SMARCC1 LOC105371630 RASAL2-AS1 RASAL2 piR-33905-005 CLEC20A
GH01J178055 Enhancer 0.9 ENCODE 20.9 -36.6 -36574 3.9 HNRNPL GATAD2A CTCF FOXA1 RXRB RAD21 IRF2 REST IKZF2 SP1 RASAL2 RASAL2-AS1 SEC16B CRYZL2P piR-53338-012 CRYZL2P-SEC16B HSALNG0008680
GH01J178188 Enhancer 0.9 FANTOM5 Ensembl 17.9 +95.3 95272 3.2 GATAD2A CTCF TEAD4 FOXA1 RAD21 TRIM22 FOXA2 SMC3 TEAD1 JUNB RASAL2-AS1 RASAL2 CRYZL2P-SEC16B SEC16B ENSG00000270575 lnc-SEC16B-7 lnc-SEC16B-4 CLEC20A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASAL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASAL2

Top Transcription factor binding sites by QIAGEN in the RASAL2 gene promoter:
  • E47
  • HFH-1
  • Hlf
  • HNF-1A
  • Nkx2-2
  • NRSF form 1
  • NRSF form 2
  • p300
  • Sox9
  • Zic1

Genomic Locations for RASAL2 Gene

Genomic Locations for RASAL2 Gene
chr1:178,093,729-178,484,147
(GRCh38/hg38)
Size:
390,419 bases
Orientation:
Plus strand
chr1:178,062,864-178,448,649
(GRCh37/hg19)
Size:
385,786 bases
Orientation:
Plus strand

Genomic View for RASAL2 Gene

Genes around RASAL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASAL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASAL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASAL2 Gene

Proteins for RASAL2 Gene

  • Protein details for RASAL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJF2-NGAP_HUMAN
    Recommended name:
    Ras GTPase-activating protein nGAP
    Protein Accession:
    Q9UJF2
    Secondary Accessions:
    • F8W755
    • O95174
    • Q2TB22
    • Q5TFU9

    Protein attributes for RASAL2 Gene

    Size:
    1139 amino acids
    Molecular mass:
    128558 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI10612.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for RASAL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASAL2 Gene

Post-translational modifications for RASAL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RASAL2 Gene

Domains & Families for RASAL2 Gene

Gene Families for RASAL2 Gene

Protein Domains for RASAL2 Gene

InterPro:
Blocks:
  • C2 domain
  • Pleckstrin-like
  • Ras GTPase-activating protein
ProtoNet:

Suggested Antigen Peptide Sequences for RASAL2 Gene

GenScript: Design optimal peptide antigens:
  • RAS protein activator-like 2 (NGAP_HUMAN)
  • RASAL2 protein (Q2TB22_HUMAN)
  • RAS protein activator like 2 (Q5TFV0_HUMAN)
  • RASAL2 protein (Q6P4F9_HUMAN)
genes like me logo Genes that share domains with RASAL2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RASAL2 Gene

Function for RASAL2 Gene

Molecular function for RASAL2 Gene

UniProtKB/Swiss-Prot Function:
Inhibitory regulator of the Ras-cyclic AMP pathway.

Phenotypes From GWAS Catalog for RASAL2 Gene

Gene Ontology (GO) - Molecular Function for RASAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS,IEA --
GO:0005515 protein binding IPI 18985028
genes like me logo Genes that share ontologies with RASAL2: view
genes like me logo Genes that share phenotypes with RASAL2: view

Animal Models for RASAL2 Gene

MGI Knock Outs for RASAL2:
  • Rasal2 Rasal2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RASAL2 Gene

miRTarBase miRNAs that target RASAL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASAL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RASAL2 Gene

Localization for RASAL2 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 RASAL2 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RASAL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RASAL2 Gene

Pathways & Interactions for RASAL2 Gene

PathCards logo

SuperPathways for RASAL2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 HIV Life Cycle
.45
5 Innate Immune System
genes like me logo Genes that share pathways with RASAL2: view

Pathways by source for RASAL2 Gene

1 Cell Signaling Technology pathway for RASAL2 Gene

Gene Ontology (GO) - Biological Process for RASAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction IEA,TAS 9877179
GO:0043087 regulation of GTPase activity IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RASAL2: view

No data available for SIGNOR curated interactions for RASAL2 Gene

Drugs & Compounds for RASAL2 Gene

No Compound Related Data Available

Transcripts for RASAL2 Gene

mRNA/cDNA for RASAL2 Gene

2 REFSEQ mRNAs :
19 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 RASAL2

Alternative Splicing Database (ASD) splice patterns (SP) for RASAL2 Gene

No ASD Table

Relevant External Links for RASAL2 Gene

GeneLoc Exon Structure for
RASAL2

Expression for RASAL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RASAL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RASAL2 Gene

This gene is overexpressed in Synovial fluid (13.9), Milk (11.6), and Uterus (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RASAL2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RASAL2

SOURCE GeneReport for Unigene cluster for RASAL2 Gene:

Hs.496139

Evidence on tissue expression from TISSUES for RASAL2 Gene

  • Heart(4.3)
  • Liver(4.3)
  • Nervous system(4)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with RASAL2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASAL2 Gene

Orthologs for RASAL2 Gene

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

Orthologs for RASAL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RASAL2 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RASAL2 30 31
  • 94.17 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RASAL2 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rasal2 30 17 31
  • 92.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RASAL2 30 31
  • 92.33 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RASAL2 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RASAL2 30 31
  • 81.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RASAL2 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rasal2 30
  • 76.45 (n)
Str.11362 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1575 30
Zebrafish
(Danio rerio)
Actinopterygii rasal2 30 31
  • 70.89 (n)
OneToOne
Dr.24417 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7799 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG42684 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gap-2 31 32
  • 25 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD2 31
  • 17 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6146 31
  • 35 (a)
OneToMany
Species where no ortholog for RASAL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • Rat (Rattus norvegicus)
  • 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 RASAL2 Gene

ENSEMBL:
Gene Tree for RASAL2 (if available)
TreeFam:
Gene Tree for RASAL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASAL2: view image

Paralogs for RASAL2 Gene

(4) SIMAP similar genes for RASAL2 Gene using alignment to 4 proteins:

  • NGAP_HUMAN
  • B1AKC7_HUMAN
  • H0Y638_HUMAN
  • Q6P4F9_HUMAN
genes like me logo Genes that share paralogs with RASAL2: view

Variants for RASAL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASAL2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709358 Likely Benign: not provided 178,443,046(+) G/A SYNONYMOUS_VARIANT
719624 Benign: not provided 178,441,554(+) C/T SYNONYMOUS_VARIANT
721721 Likely Benign: not provided 178,094,575(+) C/A MISSENSE_VARIANT
723880 Likely Benign: not provided 178,442,854(+) T/C SYNONYMOUS_VARIANT
723881 Likely Benign: not provided 178,457,833(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RASAL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RASAL2 Gene

Variant ID Type Subtype PubMed ID
esv2534493 CNV deletion 19546169
esv2606666 CNV deletion 19546169
esv3416886 CNV duplication 20981092
esv3588029 CNV loss 21293372
esv3588030 CNV loss 21293372
esv3588031 CNV loss 21293372
esv3588032 CNV loss 21293372
esv3588033 CNV loss 21293372
nsv1142076 CNV tandem duplication 24896259
nsv473443 CNV novel sequence insertion 20440878
nsv508670 CNV deletion 20534489
nsv548252 CNV gain 21841781
nsv946518 CNV duplication 23825009

Variation tolerance for RASAL2 Gene

Residual Variation Intolerance Score: 5.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.40; 42.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASAL2 Gene

Human Gene Mutation Database (HGMD)
RASAL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASAL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASAL2 Gene

Disorders for RASAL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RASAL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast lobular carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RASAL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RASAL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASAL2 Gene

Publications for RASAL2 Gene

  1. A novel human RasGAP-like gene that maps within the prostate cancer susceptibility locus at chromosome 1q25. (PMID: 9877179) Noto S … Hatakeyama M (FEBS letters 1998) 2 3 4
  2. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 41
  3. Analyses of shared genetic factors between asthma and obesity in children. (PMID: 20816195) Melén E … Lasky-Su J (The Journal of allergy and clinical immunology 2010) 3 41
  4. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PMID: 19079260) Thorleifsson G … Stefansson K (Nature genetics 2009) 3 41
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for RASAL2 Gene

  • Signalway Proteins for RASAL2

Sources for RASAL2 Gene