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

    Gene ID: 9770, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:9883
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RASSF2 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (4780023..4823608, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (4819268..4863842, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4760669..4804254, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7998 Neighboring gene IDI1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12646 Neighboring gene prion locus lncRNA, testis expressed Neighboring gene uncharacterized LOC105372511 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4760952-4761170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4775280-4776140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4776141-4777001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17498 Neighboring gene uncharacterized LOC107985392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4816447-4816946 Neighboring gene solute carrier family 23 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4874687-4875187 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:4877415-4877936 Neighboring gene Sharpr-MPRA regulatory region 14391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12650 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:4953768-4954967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4979144-4979644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12651 Neighboring gene SLC23A2 promoter P2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17504 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4983486-4984137 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:4984138-4984788 Neighboring gene SLC23A2 promoter P1 Neighboring gene ribosomal protein S21 pseudogene 7

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0168, DKFZp781O1747

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of non-canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of non-canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      Related
      ENSP00000368710.3, ENST00000379400.8
      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_170774.2NP_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)
      AL133354, AY154472, BC117118
      Consensus CDS
      CCDS13083.1
      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      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: 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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      4780023..4823608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      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_017028149.2XP_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
    3. XM_011529410.2XP_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
    4. XM_017028151.2XP_016883640.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      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
    5. XM_047440619.1XP_047296575.1  ras association domain-containing protein 2 isoform X1

    6. XM_017028150.2XP_016883639.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      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_047440618.1XP_047296574.1  ras association domain-containing protein 2 isoform X1

    8. XM_005260895.4XP_005260952.1  ras association domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005260952.1

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      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_011529411.2XP_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
    10. XM_047440621.1XP_047296577.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    11. XM_017028152.2XP_016883641.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
      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
    12. XM_047440622.1XP_047296578.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    13. XM_047440620.1XP_047296576.1  ras association domain-containing protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      4819268..4863842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324283.1XP_054180258.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    2. XM_054324289.1XP_054180264.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    3. XM_054324281.1XP_054180256.1  ras association domain-containing protein 2 isoform X1

    4. XM_054324278.1XP_054180253.1  ras association domain-containing protein 2 isoform X1

    5. XM_054324285.1XP_054180260.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    6. XM_054324282.1XP_054180257.1  ras association domain-containing protein 2 isoform X1

    7. XM_054324284.1XP_054180259.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    8. XM_054324280.1XP_054180255.1  ras association domain-containing protein 2 isoform X1

    9. XM_054324279.1XP_054180254.1  ras association domain-containing protein 2 isoform X1

    10. XM_054324286.1XP_054180261.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    11. XM_054324287.1XP_054180262.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5
    12. XM_054324288.1XP_054180263.1  ras association domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A6NIX9, A8K5Z3, P50749, Q17S06, Q53HD0, Q6AHZ2, Q8IZA5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_170773.1: Suppressed sequence

      Description
      NM_170773.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.