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RASAL2 RAS protein activator like 2 [ Homo sapiens (human) ]

Gene ID: 9462, updated on 7-Jun-2020

Summary

Official Symbol
RASAL2provided by HGNC
Official Full Name
RAS protein activator like 2provided by HGNC
Primary source
HGNC:HGNC:9874
See related
Ensembl:ENSG00000075391 MIM:606136
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
NGAP
Summary
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]
Expression
Ubiquitous expression in esophagus (RPKM 4.0), fat (RPKM 3.6) and 24 other tissues See more
Orthologs

Genomic context

See RASAL2 in Genome Data Viewer
Location:
1q25.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (178093729..178478879)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178062864..178448649)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRYZL2P-SEC16B readthrough Neighboring gene SEC16 homolog B, endoplasmic reticulum export factor Neighboring gene crystallin zeta like 2, pseudogene Neighboring gene RASAL2 antisense RNA 1 Neighboring gene uncharacterized LOC105371630 Neighboring gene uncharacterized LOC105371629 Neighboring gene ribosomal protein S14 pseudogene 2 Neighboring gene uncharacterized LOC101928866 Neighboring gene C-type lectin domain containing 20A Neighboring gene testis expressed 35

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of antibody response to smallpox vaccine.
NHGRI GWA Catalog
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129919

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras GTPase-activating protein nGAP
Names
RASAL2/ACVR1 fusion
Ras protein activator like 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_047109.1 RefSeqGene

    Range
    5001..390786
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004841.5NP_004832.1  ras GTPase-activating protein nGAP isoform 1

    See identical proteins and their annotated locations for NP_004832.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AF047711, AK290308, AL035702, AL365357
    Consensus CDS
    CCDS1322.1
    UniProtKB/Swiss-Prot
    Q9UJF2
    UniProtKB/TrEMBL
    A8K2P3
    Related
    ENSP00000420558.1, ENST00000462775.5
    Conserved Domains (6) summary
    cd04013
    Location:159298
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:289619
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:282620
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam12004
    Location:6091101
    DUF3498; Domain of unknown function (DUF3498)
    cl02488
    Location:9631111
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl17171
    Location:34217
    PH-like; Pleckstrin homology-like domain
  2. NM_170692.4NP_733793.2  ras GTPase-activating protein nGAP isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AK311017, AL035702, AL160281, BC110611
    Consensus CDS
    CCDS1321.2
    UniProtKB/Swiss-Prot
    Q9UJF2
    Related
    ENSP00000356621.3, ENST00000367649.7
    Conserved Domains (6) summary
    cd04013
    Location:307446
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:437760
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:430761
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam12004
    Location:7501242
    DUF3498; Domain of unknown function (DUF3498)
    cl02488
    Location:11041252
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl17171
    Location:182365
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    178093729..178478879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510166.2XP_011508468.1  ras GTPase-activating protein nGAP isoform X5

    Conserved Domains (6) summary
    cd04013
    Location:307446
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:437767
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:430768
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13373
    Location:184321
    PH_nGAP; Neuronal growth-associated proteins Pleckstrin homology (PH) domain
    pfam12004
    Location:7571233
    DUF3498; Domain of unknown function (DUF3498)
    cl02488
    Location:11111250
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. XM_011510167.2XP_011508469.1  ras GTPase-activating protein nGAP isoform X6

    See identical proteins and their annotated locations for XP_011508469.1

    Conserved Domains (6) summary
    cd04013
    Location:307446
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:437767
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:430768
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam12004
    Location:7571249
    DUF3498; Domain of unknown function (DUF3498)
    cl02488
    Location:11111259
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl17171
    Location:182365
    PH-like; Pleckstrin homology-like domain
  3. XM_017002849.1XP_016858338.1  ras GTPase-activating protein nGAP isoform X1

  4. XM_017002850.1XP_016858339.1  ras GTPase-activating protein nGAP isoform X2

  5. XM_017002851.1XP_016858340.1  ras GTPase-activating protein nGAP isoform X3

  6. XM_017002852.1XP_016858341.1  ras GTPase-activating protein nGAP isoform X4

  7. XM_017002853.1XP_016858342.1  ras GTPase-activating protein nGAP isoform X7

  8. XM_005245622.4XP_005245679.1  ras GTPase-activating protein nGAP isoform X9

    Conserved Domains (6) summary
    cd04013
    Location:159298
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:289619
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:282620
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13373
    Location:36173
    PH_nGAP; Neuronal growth-associated proteins Pleckstrin homology (PH) domain
    pfam12004
    Location:6091085
    DUF3498; Domain of unknown function (DUF3498)
    cl02488
    Location:9631102
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  9. XM_017002854.1XP_016858343.1  ras GTPase-activating protein nGAP isoform X8

  10. XM_017002855.1XP_016858344.1  ras GTPase-activating protein nGAP isoform X10

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