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RASSF2 Ras association domain family member 2 [ Homo sapiens (human) ]

Gene ID: 9770, updated on 7-Dec-2018

Summary

Official Symbol
RASSF2provided by HGNC
Official Full Name
Ras association domain family member 2provided by HGNC
Primary source
HGNC:HGNC:9883
See related
Ensembl:ENSG00000101265 MIM:609492
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
CENP-34; RASFADIN
Summary
This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 57.7), bone marrow (RPKM 38.0) and 16 other tissues See more
Orthologs

Genomic context

See RASSF2 in Genome Data Viewer
Location:
20p13
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (4780023..4823668, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4760669..4804291, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene isopentenyl-diphosphate delta isomerase 1 pseudogene Neighboring gene prion locus lncRNA, testis expressed Neighboring gene uncharacterized LOC105372511 Neighboring gene uncharacterized LOC107985392 Neighboring gene solute carrier family 23 member 2 Neighboring gene SLC23A2 promoter P2 Neighboring gene SLC23A2 promoter P1

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
NHGRI GWA Catalog

Pathways from BioSystems

  • Hippo signaling pathway -multiple species, organism-specific biosystem (from KEGG)
    Hippo signaling pathway -multiple species, organism-specific biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...
  • Hippo signaling pathway -multiple species, conserved biosystem (from KEGG)
    Hippo signaling pathway -multiple species, conserved biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0168, DKFZp781O1747

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
Process Evidence Code Pubs
bone remodeling IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells IEA
Inferred from Electronic Annotation
more info
 
negative regulation of NIK/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
ossification IEA
Inferred from Electronic Annotation
more info
 
positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras association domain-containing protein 2
Names
Ras association (RalGDS/AF-6) domain family 2
Ras association (RalGDS/AF-6) domain family member 2
centromere protein 34

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.

mRNA and Protein(s)

  1. NM_014737.3NP_055552.1  ras association domain-containing protein 2

    See identical proteins and their annotated locations for NP_055552.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AL133354, D79990, DA333367
    Consensus CDS
    CCDS13083.1
    UniProtKB/Swiss-Prot
    P50749
    Related
    ENSP00000368710.3, ENST00000379400.7
    Conserved Domains (2) summary
    cd01784
    Location:177263
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:277316
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  2. NM_170774.1NP_739580.1  ras association domain-containing protein 2

    See identical proteins and their annotated locations for NP_739580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AY154472, BC117118
    Consensus CDS
    CCDS13083.1
    UniProtKB/Swiss-Prot
    P50749
    Related
    ENSP00000368684.2, ENST00000379376.2
    Conserved Domains (2) summary
    cd01784
    Location:177263
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:277316
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    4780023..4823668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028153.1XP_016883642.1  ras association domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    P50749
    Conserved Domains (2) summary
    cd01784
    Location:177263
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:277316
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  2. XM_017028151.1XP_016883640.1  ras association domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    P50749
    Conserved Domains (2) summary
    cd01784
    Location:177263
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:277316
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  3. XM_017028150.1XP_016883639.1  ras association domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    P50749
    Conserved Domains (2) summary
    cd01784
    Location:177263
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:277316
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  4. XM_011529410.1XP_011527712.1  ras association domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011527712.1

    Conserved Domains (2) summary
    cd01784
    Location:179265
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:279318
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  5. XM_017028149.1XP_016883638.1  ras association domain-containing protein 2 isoform X1

    Conserved Domains (2) summary
    cd01784
    Location:179265
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:279318
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  6. XM_005260895.3XP_005260952.1  ras association domain-containing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005260952.1

    UniProtKB/Swiss-Prot
    P50749
    Conserved Domains (2) summary
    cd01784
    Location:177263
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:277316
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  7. XM_011529411.1XP_011527713.1  ras association domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011527713.1

    Conserved Domains (2) summary
    cd01784
    Location:179265
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:279318
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  8. XM_017028152.1XP_016883641.1  ras association domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    P50749
    Conserved Domains (2) summary
    cd01784
    Location:177263
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:277316
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
  9. XM_011529412.2XP_011527714.1  ras association domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011527714.1

    Conserved Domains (2) summary
    cd01784
    Location:179265
    rasfadin_RA; Ubiquitin-like domain of Rasfadin
    pfam16517
    Location:279318
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
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