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Relevance to Autism

Studies have found genetic association between the HRAS gene and autism in French-Caucasian and US-Caucasian population cohorts. In addition, variants in HRAS have been identified with Costello syndrome (Sol-Church et al., 2006).

Molecular Function

The encoded protein binds GTP and has GTPase activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism.
ASD
Positive Association
Studies of the c-Harvey-Ras gene in psychiatric disorders.
ASD
Positive Association
Autism and genetics: clinical approach and association study with two markers of HRAS gene.
ASD
Support
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
DD, ID, autistic features
Support
Behavioral phenotype in Costello syndrome with atypical mutation: a case report.
Costello syndrome
ASD (PDD-NOS)
Support
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Non-syndromic ASD
Highly Cited
The latent nuclear antigen of Kaposi sarcoma-associated herpesvirus targets the retinoblastoma-E2F pathway and with the oncogene Hras transforms pr...
Recent Recommendation
Behavioral profile in RASopathies.
Costello syndrome
Autistic features
Recent Recommendation
Autism traits in the RASopathies.
Costello syndrome
Autistic features
Recent Recommendation
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
Costello syndrome
Recent Recommendation
Oncogenic HRAS suppresses clusterin expression through promoter hypermethylation.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN124R001 
 missense_variant 
 c.34G>A 
 p.Gly12Ser 
  
  
  
 GEN124R002 
 missense_variant 
 c.35G>C 
 p.Gly12Ala 
 De novo 
  
  
 GEN124R003 
 missense_variant 
 c.37G>A 
 p.Gly13Cys 
 De novo 
  
  
 GEN124R004 
 missense_variant 
 c.383G>A 
 p.Arg128Gln 
  
  
 Multiplex 
 GEN124R005 
 synonymous_variant 
 c.498C>G 
 p.(=) 
  
  
 Multiplex 
 GEN124R006 
 inframe_insertion 
 c.108_110dupAGA 
 p.Glu37dup 
 Unknown 
  
 Unknown 
 GEN124R007 
 frameshift_variant 
 c.481_490delGGGACCCTCT 
 p.Leu163ProfsTer52 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN124C001 
 allele 
  
 N/A 
 N/A 
 French-Caucasian 
 Discovery 
 GEN124C002 
 microsatellite, intron_variant 
  
 N/A 
 N/A 
 US 
 Discovery 
 GEN124C003 
 microsatellite, intron_variant 
  
 N/A 
 N/A 
 US 
 Discovery 
 GEN124C004 
 microsatellite, intron_variant 
  
 N/A 
 N/A 
 US 
 Discovery 
 GEN124C005 
 2KB_upstream_variant 
 rs41294870 
 c.-10C>T 
  
 US 
 Discovery 
 GEN124C006 
 synonymous_variant 
 rs12628 
 c.81T>C 
 p.(=) 
 US 
 Discovery 
 GEN124C007 
 intron_variant 
 rs41258054 
 c.111+15G>A 
  
 US 
 Discovery 
 GEN124C008 
 microsatellite 
  
 N/A 
 N/A 
 French-Caucasian 
 Discovery 
 GEN124C009 
 gene_variant 
  
 N/A 
 N/A 
 French-Caucasian 
 Discovery 
 GEN124C010 
 microsatellite 
  
 N/A 
 N/A 
 US-Caucasian 
 Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 20
 
11
Duplication
 1
 
11
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ATG3 Ubiquitin-like-conjugating enzyme ATG3 64422 Q9NT62 IP; LC-MS/MS
Huttlin EL , et al. 2015
BRAF Serine/threonine-protein kinase B-raf 673 P15056 IP; LC-MS/MS
Huttlin EL , et al. 2015
C1ORF93 Prostamide/prostaglandin F synthase 127281 Q8TBF2-5 IP; LC-MS/MS
Huttlin EL , et al. 2015
C1QL4 complement component 1, q subcomponent-like 4 338761 Q86Z23 IP; LC-MS/MS
Huttlin EL , et al. 2015
CD27 CD27 antigen 939 P26842 IP; LC-MS/MS
Huttlin EL , et al. 2015
CYP2S1 Cytochrome P450 2S1 29785 Q96SQ9-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 1595 Q16850 IP; LC-MS/MS
Huttlin EL , et al. 2015
DEAF1 DEAF1 transcription factor 10522 O75398 Y2H
Vinayagam A , et al. 2011
DEFB104A Beta-defensin 104 140596 Q8WTQ1 IP; LC-MS/MS
Huttlin EL , et al. 2015
DHCR24 24-dehydrocholesterol reductase 1718 Q15392 IP; LC-MS/MS
Huttlin EL , et al. 2015
DUS4L dihydrouridine synthase 4-like (S. cerevisiae) 11062 A4D0R5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DUSP22 dual specificity phosphatase 22 56940 Q9NRW4 IP; LC-MS/MS
Huttlin EL , et al. 2015
GJB7 Gap junction beta-7 protein 375519 Q6PEY0 IP; LC-MS/MS
Huttlin EL , et al. 2015
HDAC2 histone deacetylase 2 3066 Q92769 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
HDHD2 haloacid dehalogenase-like hydrolase domain containing 2 84064 Q9H0R4 IP; LC-MS/MS
Huttlin EL , et al. 2015
HOXB5 homeobox B5 3215 P09067 IP; LC-MS/MS
Huttlin EL , et al. 2015
KRT18 keratin 18 3875 P05783 Y2H
Wang J , et al. 2011
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP-chip
Yasui DH , et al. 2007
MED21 mediator complex subunit 21 9412 Q13503 IP; LC-MS/MS
Huttlin EL , et al. 2015
MGST3 Microsomal glutathione S-transferase 3 4259 O14880 IP; LC-MS/MS
Huttlin EL , et al. 2015
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 10797 P13995 IP; LC-MS/MS
Huttlin EL , et al. 2015
NEDD8 neural precursor cell expressed, developmentally down-regulated 8 4738 Q15843 LC-MS/MS
Havugimana PC , et al. 2012
NF1 neurofibromin 1 4763 P21359 IP/WB
Hirata Y , et al. 2015
NF1 neurofibromin 1 4763 P21359 Y2H; GTP hydrolysis assay
Morcos P , et al. 1996
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 4916 Q16288 IP; LC-MS/MS
Huttlin EL , et al. 2015
PLCXD2 phosphatidylinositol-specific phospholipase C, X domain containing 2 257068 Q0VAA5 IP; LC-MS/MS
Huttlin EL , et al. 2015
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 5378 P54277 IP; LC-MS/MS
Huttlin EL , et al. 2015
PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 5690 B7Z478 LC-MS/MS
Havugimana PC , et al. 2012
RABGGTB Rab geranylgeranyltransferase, beta subunit 5876 P53611 IP; LC-MS/MS
Huttlin EL , et al. 2015
RASSF5 Ras association (RalGDS/AF-6) domain family member 5 83593 Q8WWW0 Y2H
Corominas R , et al. 2014
RIN1 Ras and Rab interactor 1 9610 Q13671 IP; LC-MS/MS
Huttlin EL , et al. 2015
S1PR1 Sphingosine 1-phosphate receptor 1 1901 P21453 IP; LC-MS/MS
Huttlin EL , et al. 2015
SDC1 syndecan 1 6382 P18827 IP; LC-MS/MS
Huttlin EL , et al. 2015
SGK1 serum/glucocorticoid regulated kinase 1 6446 O00141 IP; LC-MS/MS
Huttlin EL , et al. 2015
SIRT1 sirtuin 1 23411 A8K128 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
SIRT5 NAD-dependent protein deacylase sirtuin-5, mitochondrial 23408 Q9NXA8 GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB
Lin YY , et al. 2012
SLC25A41 Solute carrier family 25 member 41 284427 Q8N5S1 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC9A3R2 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 9351 Q6NTG0 LC-MS/MS
Havugimana PC , et al. 2012
TIGD5 tigger transposable element derived 5 84948 Q53EQ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM185A Transmembrane protein 185A 84548 Q8NFB2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TPR translocated promoter region (to activated MET oncogene) 7175 P12270 LC-MS/MS
Havugimana PC , et al. 2012
VDAC3 voltage-dependent anion channel 3 7419 Q9Y277 IP; LC-MS/MS
Huttlin EL , et al. 2015

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