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MRAS muscle RAS oncogene homolog [ Homo sapiens (human) ]

Gene ID: 22808, updated on 17-Sep-2024

Summary

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Official Symbol
MRASprovided by HGNC
Official Full Name
muscle RAS oncogene homologprovided by HGNC
Primary source
HGNC:HGNC:7227
See related
Ensembl:ENSG00000158186 MIM:608435; AllianceGenome:HGNC:7227
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NS11; M-RAs; RRAS3; R-RAS3
Summary
This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Broad expression in fat (RPKM 37.4), heart (RPKM 23.2) and 16 other tissues See more
Orthologs
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Genomic context

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Location:
3q22.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138347648..138405535)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141088198..141146101)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138066490..138124377)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20602 Neighboring gene NME/NM23 family member 9 Neighboring gene uncharacterized LOC124909438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138066933-138067888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138078932-138079766 Neighboring gene MPRA-validated peak4844 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131466-138131966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131967-138132467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138158533-138159312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138159313-138160093 Neighboring gene extended synaptotagmin 3 Neighboring gene centrosomal protein 70

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. Pires LVL, et al. Am J Med Genet A, 2021 Oct. PMID 34080768
  2. Correlation between MRAS gene polymorphism and atherosclerosis. Wu ZY, et al. Eur Rev Med Pharmacol Sci, 2020 May. PMID 32495899
  3. The influence of MRAS gene variants on ischemic stroke and serum lipid levels in Chinese Han population. Song Y, et al. Medicine (Baltimore), 2019 Nov. PMID 31770223, Free PMC Article
  4. Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. Suzuki H, et al. Am J Med Genet A, 2019 Aug. PMID 31173466
  5. Genome-wide association reveals contribution of MRAS to painful temporomandibular disorder in males. Smith SB, et al. Pain, 2019 Mar. PMID 30431558, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Crystal structure of the GDP-bound human M-RAS protein in two crystal forms.
    Title: Crystal structure of the GDP-bound human M-RAS protein in two crystal forms.
  2. Scribble mis-localization induces adaptive resistance to KRAS G12C inhibitors through feedback activation of MAPK signaling mediated by YAP-induced MRAS.
    Title: Scribble mis-localization induces adaptive resistance to KRAS G12C inhibitors through feedback activation of MAPK signaling mediated by YAP-induced MRAS.
  3. Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
    Title: Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
  4. Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.
    Title: Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.
  5. Structure of the MRAS-SHOC2-PP1C phosphatase complex.
    Title: Structure of the MRAS-SHOC2-PP1C phosphatase complex.
  6. Structural basis for SHOC2 modulation of RAS signalling.
    Title: Structural basis for SHOC2 modulation of RAS signalling.
  7. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
    Title: Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
  8. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
    Title: Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
  9. Correlation between MRAS gene polymorphism and atherosclerosis.
    Title: Correlation between MRAS gene polymorphism and atherosclerosis.
  10. We confirmed that the MRAS gene represents a causative gene for RASopathy.
    Title: Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Noonan syndrome 11
MedGen: C5193130 OMIM: 618499 GeneReviews: Noonan Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
EBI GWAS Catalog
New susceptibility locus for coronary artery disease on chromosome 3q22.3.
EBI GWAS Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42964

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein activity IEA
Inferred from Electronic Annotation
more info
  
enables GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in actin cytoskeleton organization TAS
Traceable Author Statement
more info
  
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ras-related protein M-Ras
Names
muscle and microspikes RAS
ras-related protein R-Ras3
NP_001078518.1
NP_001239019.1
NP_001239020.1
NP_001239021.1
NP_001239022.1
NP_036351.3
XP_005247285.1
XP_005247286.1
XP_024309164.1
XP_047303651.1
XP_047303652.1
XP_047303653.1
XP_047303654.1
XP_047303655.1
XP_054201645.1
XP_054201646.1
XP_054201647.1
XP_054201648.1
XP_054201649.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001085049.3 → NP_001078518.1  ras-related protein M-Ras isoform 1 precursor

    See identical proteins and their annotated locations for NP_001078518.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AC022337, AF022080, AK123833, AK316071, BC017733, BC047690, CN356600
    Consensus CDS
    CCDS3100.1
    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0
    Related
    ENSP00000389682.2, ENST00000423968.7
    Conserved Domains (1) summary
    cd04145
    Location:12 → 176
    M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

  2. NM_001252090.2 → NP_001239019.1  ras-related protein M-Ras isoform 1 precursor

    See identical proteins and their annotated locations for NP_001239019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AC022497, AF493918, AK123833, AK316071, BC017733, BI488489
    Consensus CDS
    CCDS3100.1
    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0
    Related
    ENSP00000418356.1, ENST00000474559.1
    Conserved Domains (1) summary
    cd04145
    Location:12 → 176
    M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

  3. NM_001252091.1 → NP_001239020.1  ras-related protein M-Ras isoform 2 precursor

    See identical proteins and their annotated locations for NP_001239020.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 4, 5 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK123833, AK316071, BC017733, DA235195, DA355883
    Consensus CDS
    CCDS58855.1
    UniProtKB/TrEMBL
    C9J8Q6
    Related
    ENSP00000484586.1, ENST00000614350.4
    Conserved Domains (1) summary
    cl38936
    Location:1 → 100
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. NM_001252092.2 → NP_001239021.1  ras-related protein M-Ras isoform 2 precursor

    See identical proteins and their annotated locations for NP_001239021.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 4, 5 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK123833, AK295640, BC017733
    Consensus CDS
    CCDS58855.1
    UniProtKB/TrEMBL
    C9J8Q6
    Related
    ENSP00000419582.1, ENST00000464896.5
    Conserved Domains (1) summary
    cl38936
    Location:1 → 100
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. NM_001252093.2 → NP_001239022.1  ras-related protein M-Ras isoform 2 precursor

    See identical proteins and their annotated locations for NP_001239022.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 4, 5 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC022337, AI216578, AK123833, AK316071, BC017733, CN356600
    Consensus CDS
    CCDS58855.1
    UniProtKB/TrEMBL
    C9J8Q6
    Related
    ENSP00000481637.1, ENST00000621127.4
    Conserved Domains (1) summary
    cl38936
    Location:1 → 100
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. NM_012219.4 → NP_036351.3  ras-related protein M-Ras isoform 1 precursor

    See identical proteins and their annotated locations for NP_036351.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AK123833, AK124954, BC017733, DA235195
    Consensus CDS
    CCDS3100.1
    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0
    Related
    ENSP00000289104.4, ENST00000289104.8
    Conserved Domains (1) summary
    cd04145
    Location:12 → 176
    M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    138347648..138405535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447696.1 → XP_047303652.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  2. XM_047447697.1 → XP_047303653.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  3. XM_047447695.1 → XP_047303651.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  4. XM_047447698.1 → XP_047303654.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  5. XM_005247228.2 → XP_005247285.1  ras-related protein M-Ras isoform X1

    See identical proteins and their annotated locations for XP_005247285.1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0
    Conserved Domains (1) summary
    cd04145
    Location:12 → 176
    M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

  6. XM_047447699.1 → XP_047303655.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  7. XM_005247229.3 → XP_005247286.1  ras-related protein M-Ras isoform X2

    See identical proteins and their annotated locations for XP_005247286.1

    Conserved Domains (1) summary
    cl38936
    Location:12 → 150
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  8. XM_024453396.2 → XP_024309164.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0
    Conserved Domains (1) summary
    cd04145
    Location:12 → 176
    M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    141088198..141146101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345671.1 → XP_054201646.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  2. XM_054345670.1 → XP_054201645.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  3. XM_054345674.1 → XP_054201649.1  ras-related protein M-Ras isoform X2

  4. XM_054345672.1 → XP_054201647.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0

  5. XM_054345673.1 → XP_054201648.1  ras-related protein M-Ras isoform X1

    UniProtKB/Swiss-Prot
    B4DIK0, O14807, Q86WX8
    UniProtKB/TrEMBL
    D3DNE8, Q6FGP0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14807.2 GenPept UniProtKB/Swiss-Prot:O14807

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