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Aliases for HRAS Gene

Aliases for HRAS Gene

  • HRas Proto-Oncogene, GTPase 2 3 5
  • V-Ha-Ras Harvey Rat Sarcoma Viral Oncogene Homolog 2 3
  • Harvey Rat Sarcoma Viral Oncogene Homolog 2 3
  • Transforming Protein P21 3 4
  • C-H-RAS 3 4
  • P21ras 3 4
  • HRAS1 3 4
  • Ras Family Small GTP Binding Protein H-Ras 3
  • Harvey Rat Sarcoma Viral Oncoprotein 3
  • Transformation Gene: Oncogene HAMSV 3
  • GTP- And GDP-Binding Peptide B 3
  • C-Ras-Ki-2 Activated Oncogene 3
  • Ha-Ras1 Proto-Oncoprotein 3
  • C-Has/Bas P21 Protein 3
  • P19 H-RasIDX Protein 3
  • GTPase HRas 3
  • C-BAS/HAS 3
  • C-HA-RAS1 3
  • H-RASIDX 3
  • H-Ras-1 4
  • Ha-Ras 4
  • HAMSV 3
  • RASH1 3
  • CTLO 3

External Ids for HRAS Gene

Previous HGNC Symbols for HRAS Gene

  • HRAS1

Previous GeneCards Identifiers for HRAS Gene

  • GC11P001100
  • GC11P001123
  • GC11P000664
  • GC11M000346

Summaries for HRAS Gene

Entrez Gene Summary for HRAS Gene

  • This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]

CIViC summary for HRAS Gene

GeneCards Summary for HRAS Gene

HRAS (HRas Proto-Oncogene, GTPase) is a Protein Coding gene. Diseases associated with HRAS include Costello Syndrome and Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic. Among its related pathways are mTOR Pathway and Development Endothelin-1/EDNRA signaling. GO annotations related to this gene include GTP binding and protein C-terminus binding. An important paralog of this gene is NRAS.

UniProtKB/Swiss-Prot for HRAS Gene

  • Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.

Gene Wiki entry for HRAS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HRAS Gene

Genomics for HRAS Gene

Regulatory Elements for HRAS Gene

Enhancers for HRAS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G000534 1.3 ENCODE dbSUPER 17.7 +1.0 998 4.3 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A ZBTB7B ZNF143 ENSG00000255237 PHRF1 LRRC56 HRAS RNH1 SNORA52 TMEM80 DRD4 RIC8A ENSG00000255142
GH11G000468 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +67.8 67832 2.5 FOXA2 PKNOX1 ARID4B DMAP1 YY1 SLC30A9 ZNF263 KAT8 SREBF1 ZNF610 HRAS CEND1 B4GALNT4 ENSG00000255237 GC11P000498
GH11G000443 1.7 Ensembl ENCODE dbSUPER 11.3 +89.5 89542 8.2 CREB3L1 MLX AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC LRRC56 TSPAN4 SNORA52 PHRF1 PTDSS2 ENSG00000255237 ANO9 RNH1 ENSG00000255158 HRAS
GH11G000559 1.3 ENCODE dbSUPER 12.5 -25.6 -25629 7.5 HDGF PKNOX1 MLX AGO1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 FOS PHRF1 ENSG00000255237 SNORA52 HRAS RIC8A TMEM80 TSPAN4 LMNTD2 PKP3 RNH1
GH11G000611 1.2 ENCODE dbSUPER 12 -77.0 -77029 5.4 HDGF ATF1 PKNOX1 CREB3L1 AGO1 SIN3A YY1 GLIS2 ELK1 ZNF143 PHRF1 SNORA52 ENSG00000255237 HRAS TMEM80 RIC8A TSPAN4 RNH1 LRRC56 IRF7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HRAS on UCSC Golden Path with GeneCards custom track

Promoters for HRAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035647 -113 401 HDGF ATF1 PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A ZBTB7B ZNF143
ENSR00000262336 1487 2401 HDGF PKNOX1 ARNT AGO1 ARID4B SIN3A ZBTB7B ZNF143 ZNF207 FOS

Genomic Location for HRAS Gene

Chromosome:
11
Start:
532,242 bp from pter
End:
537,287 bp from pter
Size:
5,046 bases
Orientation:
Minus strand

Genomic View for HRAS Gene

Genes around HRAS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HRAS Gene

Proteins for HRAS Gene

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

    Protein Symbol:
    P01112-RASH_HUMAN
    Recommended name:
    GTPase HRas
    Protein Accession:
    P01112
    Secondary Accessions:
    • B5BUA0
    • Q14080
    • Q6FHV9
    • Q9BR65
    • Q9UCE2

    Protein attributes for HRAS Gene

    Size:
    189 amino acids
    Molecular mass:
    21298 Da
    Quaternary structure:
    • In its GTP-bound form interacts with PLCE1 (PubMed:11022048). Interacts with TBC1D10C (PubMed:17230191). Interacts with RGL3 (By similarity). Interacts with HSPD1 (By similarity). Found in a complex with at least BRAF, HRAS, MAP2K1, MAPK3 and RGS14 (By similarity). Interacts (active GTP-bound form) with RGS14 (via RBD 1 domain) (By similarity). Forms a signaling complex with RASGRP1 and DGKZ (PubMed:11257115). Interacts with RASSF5 (PubMed:18596699). Interacts with PDE6D (PubMed:11980706). Interacts with IKZF3 (PubMed:10369681). Interacts with RACK1 (PubMed:14500341). Interacts with PIK3CG; the interaction is required for membrane recruitment and beta-gamma G protein dimer-dependent activation of the PI3K gamma complex PIK3CG:PIK3R6 (By similarity). Interacts with RAPGEF2 (PubMed:10608844, PubMed:11598133).

    Three dimensional structures from OCA and Proteopedia for HRAS Gene

    Alternative splice isoforms for HRAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HRAS Gene

Post-translational modifications for HRAS Gene

  • Acetylation at Lys-104 prevents interaction with guanine nucleotide exchange factors (GEFs).
  • Palmitoylated by the ZDHHC9-GOLGA7 complex. A continuous cycle of de- and re-palmitoylation regulates rapid exchange between plasma membrane and Golgi.
  • S-nitrosylated; critical for redox regulation. Important for stimulating guanine nucleotide exchange. No structural perturbation on nitrosylation.
  • The covalent modification of cysteine by 15-deoxy-Delta12,14-prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S-nitrosylation and S-palmitoylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HRAS (HRas)

No data available for DME Specific Peptides for HRAS Gene

Domains & Families for HRAS Gene

Gene Families for HRAS Gene

Suggested Antigen Peptide Sequences for HRAS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01112

UniProtKB/Swiss-Prot:

RASH_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 HRAS: view

Function for HRAS Gene

Molecular function for HRAS Gene

GENATLAS Biochemistry:
Harvey rat sarcoma viral (v-Ha-ras1) oncogene homolog
UniProtKB/Swiss-Prot EnzymeRegulation:
Alternates between an inactive form bound to GDP and an active form bound to GTP. Activated by a guanine nucleotide-exchange factor (GEF) and inactivated by a GTPase-activating protein (GAP).
UniProtKB/Swiss-Prot Function:
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.

Gene Ontology (GO) - Molecular Function for HRAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IDA,IMP 9230043
GO:0005515 protein binding IPI 2122974
GO:0005525 GTP binding IDA,IMP 9230043
GO:0008022 protein C-terminus binding IPI 9219684
genes like me logo Genes that share ontologies with HRAS: view
genes like me logo Genes that share phenotypes with HRAS: view

Human Phenotype Ontology for HRAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HRAS Gene

MGI Knock Outs for HRAS:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HRAS Gene

Localization for HRAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HRAS Gene

Cell membrane. Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus. Golgi apparatus membrane; Lipid-anchor. Note=The active GTP-bound form is localized most strongly to membranes than the inactive GDP-bound form (By similarity). Shuttles between the plasma membrane and the Golgi apparatus. {ECO:0000250}.
Isoform 2: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Colocalizes with RACK1 to the perinuclear region.

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 HRAS gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
golgi apparatus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
endosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for HRAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS 10842192
GO:0005794 Golgi apparatus IDA,IEA 14500341
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HRAS: view

Pathways & Interactions for HRAS Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 IL-2 Pathway
4 Glioma
.47
.41
5 Regulation of lipid metabolism Insulin signaling-generic cascades
genes like me logo Genes that share pathways with HRAS: view

Pathways by source for HRAS Gene

SIGNOR curated interactions for HRAS Gene

Gene Ontology (GO) - Biological Process for HRAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001934 positive regulation of protein phosphorylation IDA 22065586
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006897 endocytosis IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with HRAS: view

Drugs & Compounds for HRAS Gene

(61) Drugs for HRAS Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cetuximab Approved Pharma EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 752
Dabrafenib Approved Pharma BRAF kinase inhibitor, Kinase Inhibitors, Mutant BRAF Kinase 84
Guanosine diphosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma Target 0
Hexane-1,6-Diol Experimental Pharma Target 0

(43) Additional Compounds for HRAS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) ApexBio Compounds for HRAS Gene

Compound Action Cas Number
Kobe0065 Ras inhibitor 436133-68-5
kobe2602 Ras inhibitor 454453-49-7
Salirasib Inhibitor of active Ras protein 162520-00-5
genes like me logo Genes that share compounds with HRAS: view

Drug Products

Transcripts for HRAS Gene

Unigene Clusters for HRAS Gene

V-Ha-ras Harvey rat sarcoma viral oncogene homolog:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c
SP1:
SP2: -
SP3:
SP4: -
SP5: - - -
SP6: - - -

Relevant External Links for HRAS Gene

GeneLoc Exon Structure for
HRAS
ECgene alternative splicing isoforms for
HRAS

Expression for HRAS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HRAS Gene

This gene is overexpressed in Brain (8.5), Bone (8.0), Peripheral blood mononuclear cells (7.3), Monocytes (6.9), and Fetal Brain (6.2).

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



NURSA nuclear receptor signaling pathways regulating expression of HRAS Gene:

HRAS

SOURCE GeneReport for Unigene cluster for HRAS Gene:

Hs.37003

mRNA Expression by UniProt/SwissProt for HRAS Gene:

P01112-RASH_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for HRAS Gene

  • Nervous system(4.6)
  • Intestine(3.7)
  • Lung(3.6)
  • Skin(3.6)
  • Blood(3.1)
  • Pancreas(3.1)
  • Liver(3)
  • Lymph node(3)
  • Thyroid gland(2.9)
  • Kidney(2.8)
  • Bone marrow(2.7)
  • Gall bladder(2.7)
  • Heart(2.7)
  • Muscle(2.7)
  • Stomach(2.5)
  • Adrenal gland(2.4)
  • Spleen(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HRAS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • adrenal gland
  • kidney
  • stomach
Pelvis:
  • pelvis
  • placenta
  • testicle
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with HRAS: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for HRAS Gene

Orthologs for HRAS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HRAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HRAS 34 35
  • 98.77 (n)
dog
(Canis familiaris)
Mammalia HRAS 34
  • 89.77 (n)
K-RAS 35
  • 75 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HRAS 34 35
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Hras 34
  • 88.36 (n)
mouse
(Mus musculus)
Mammalia Hras 34 16 35
  • 87.65 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 70 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HRAS1 35
  • 98 (a)
OneToOne
HRAS 34
  • 83.42 (n)
lizard
(Anolis carolinensis)
Reptilia HRAS 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hras 34
  • 81.31 (n)
Str.6315 34
zebrafish
(Danio rerio)
Actinopterygii hrasa 35
  • 95 (a)
OneToMany
hrasb 35
  • 94 (a)
OneToMany
LOC100151000 34
  • 82.72 (n)
wufa04e08 34
fruit fly
(Drosophila melanogaster)
Insecta Ras85D 36 35
  • 86 (a)
worm
(Caenorhabditis elegans)
Secernentea let-60 35
  • 76 (a)
OneToMany
C08F8.7 36
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAS1 35
  • 35 (a)
ManyToMany
RAS2 35
  • 34 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.25522 34
Species where no ortholog for HRAS 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)

Evolution for HRAS Gene

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

Paralogs for HRAS Gene

Paralogs for HRAS Gene

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

Variants for HRAS Gene

Sequence variations from dbSNP and Humsavar for HRAS Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894226 Pathogenic, Costello syndrome (CSTLO) [MIM:218040] 534,285(-) CGGCG(A/G/T)TGTGG intron-variant, reference, missense, utr-variant-5-prime
rs104894227 Pathogenic, Costello syndrome (CSTLO) [MIM:218040] 533,553(-) GAACA(A/G)GTGTG intron-variant, reference, missense
rs104894228 Pathogenic, Costello syndrome (CSTLO) [MIM:218040], Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] 534,286(-) CCGGC(A/C/G/T)GTGTG intron-variant, reference, missense, utr-variant-5-prime
rs104894229 Pathogenic, Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040], Costello syndrome (CSTLO) [MIM:218040], Costello syndrome (CSTLO) [MIM:218040] 534,289(-) GCGCC(A/C/G/T)GCGGT intron-variant, reference, missense, utr-variant-5-prime
rs104894230 Pathogenic, Bladder carcinoma, Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040], Costello syndrome (CSTLO) [MIM:218040], Costello syndrome (CSTLO) [MIM:218040], Costello syndrome (CSTLO) [MIM:218040] 534,288(-) CGCCG(A/C/G/T)CGGTG intron-variant, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv182e199 CNV deletion 23128226
dgv564n106 OTHER inversion 24896259
esv2759794 CNV loss 17122850
nsv1039558 CNV gain 25217958
nsv1053964 CNV gain 25217958
nsv1077764 OTHER inversion 25765185
nsv1143668 CNV deletion 24896259
nsv1159791 CNV deletion 26073780
nsv467634 CNV loss 19166990
nsv469923 CNV loss 18288195
nsv527327 CNV loss 19592680
nsv552854 CNV loss 21841781
nsv552855 CNV loss 21841781
nsv951270 CNV deletion 24416366

Variation tolerance for HRAS Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HRAS Gene

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

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

Disorders for HRAS Gene

MalaCards: The human disease database

(126) MalaCards diseases for HRAS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
costello syndrome
  • congenital myopathy with excess of muscle spindles
schimmelpenning-feuerstein-mims syndrome, somatic mosaic
  • schimmelpenning-feuerstein-mims syndrome
thyroid cancer, nonmedullary, 2
  • thyroid carcinoma, follicular, somatic
melanocytic nevus syndrome, congenital, somatic
  • spitz nevus or nevus spilus, somatic
phakomatosis pigmentokeratotica
  • phacomatosis pigmentokeratotica
- elite association - COSMIC cancer census association via MalaCards
Search HRAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RASH_HUMAN
  • Bladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. {ECO:0000269 PubMed:6298635, ECO:0000269 PubMed:6844927}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]: Variant of Costello syndrome. {ECO:0000269 PubMed:17412879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Costello syndrome (CSTLO) [MIM:218040]: A rare condition characterized by prenatally increased growth, postnatal growth deficiency, mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. {ECO:0000269 PubMed:16170316, ECO:0000269 PubMed:16329078, ECO:0000269 PubMed:16443854, ECO:0000269 PubMed:17054105, ECO:0000269 PubMed:18039947, ECO:0000269 PubMed:18247425, ECO:0000269 PubMed:19995790}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Mutations which change positions 12, 13 or 61 activate the potential of HRAS to transform cultured cells and are implicated in a variety of human tumors. {ECO:0000269 PubMed:3670300}.
  • Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. {ECO:0000269 PubMed:22683711}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269 PubMed:12727991}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for HRAS

Genetic Association Database (GAD)
HRAS
Human Genome Epidemiology (HuGE) Navigator
HRAS
Tumor Gene Database (TGDB):
HRAS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HRAS
genes like me logo Genes that share disorders with HRAS: view

No data available for Genatlas for HRAS Gene

Publications for HRAS Gene

  1. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. (PMID: 22683711) Groesser L. … Hafner C. (Nat. Genet. 2012) 3 4 64
  2. Molecular genotyping of papillary thyroid carcinoma follicular variant according to its histological subtypes (encapsulated vs infiltrative) reveals distinct BRAF and RAS mutation patterns. (PMID: 20526288) Rivera M. … Ghossein R.A. (Mod. Pathol. 2010) 3 46 64
  3. [Study on association between an H-RAS gene polymorphism and gastric cancer development]. (PMID: 20729618) Kwack K.B. … Cho S.W. (Korean J Gastroenterol 2010) 3 46 64
  4. Molecular, morphologic, and outcome analysis of thyroid carcinomas according to degree of extrathyroid extension. (PMID: 20860430) Rivera M. … Ghossein R. (Thyroid 2010) 3 46 64
  5. The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. (PMID: 20437058) Hawken S.J. … Little J. (Hum. Genet. 2010) 3 46 64

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