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    RAVER2 ribonucleoprotein, PTB binding 2 [ Homo sapiens (human) ]

    Gene ID: 55225, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RAVER2provided by HGNC
    Official Full Name
    ribonucleoprotein, PTB binding 2provided by HGNC
    Primary source
    HGNC:HGNC:25577
    See related
    Ensembl:ENSG00000162437 MIM:609953; AllianceGenome:HGNC:25577
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables RNA binding activity. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 13.3), colon (RPKM 12.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAVER2 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64745075..64833232)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64623084..64711231)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65210758..65298915)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cache domain containing 1 Neighboring gene uncharacterized LOC124904195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65037847-65038552 Neighboring gene microRNA 4794 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65129441-65129616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65326691-65327236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1134 Neighboring gene Janus kinase 1 Neighboring gene Sharpr-MPRA regulatory region 6411 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 958 Neighboring gene Sharpr-MPRA regulatory region 2453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 959 Neighboring gene long intergenic non-protein coding RNA 1359 Neighboring gene solute carrier family 2 member 3 pseudogene 2

    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
    • 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. Transcriptional regulation of the human Raver2 ribonucleoprotein gene. Romanelli MG, et al. Gene, 2012 Feb 10. PMID 22146317
    2. Association of the RAVER2 gene with increased susceptibility for ulcerative colitis. Bouzid D, et al. Hum Immunol, 2012 Jul. PMID 22561236
    3. Messenger RNA processing is altered in autosomal dominant leukodystrophy. Bartoletti-Stella A, et al. Hum Mol Genet, 2015 May 15. PMID 25637521, Free PMC Article
    4. Raver2, a new member of the hnRNP family. Kleinhenz B, et al. FEBS Lett, 2005 Aug 15. PMID 16051233
    5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deregulation of LMNB1 expression induces modified splicing of several genes, likely driven by raver-2 overexpression, and suggest that an alteration of mRNA processing could be a pathogenic mechanism in adult-onset autosomal dominant leukodystrophy.
      Title: Messenger RNA processing is altered in autosomal dominant leukodystrophy.
    2. genetic polymorphism is ssociated with increased susceptibility for ulcerative colitis
      Title: Association of the RAVER2 gene with increased susceptibility for ulcerative colitis.
    3. Together, our results suggest that regulation of human Raver2 expression involves TATA-less transcriptional activity.
      Title: Transcriptional regulation of the human Raver2 ribonucleoprotein gene.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10770, KIAA1579, DKFZp762D1011

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ribonucleoprotein PTB-binding 2
    Names
    protein raver-2

    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_001366165.2 → NP_001353094.1  ribonucleoprotein PTB-binding 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC093427, AC099678
      Consensus CDS
      CCDS90967.1
      UniProtKB/Swiss-Prot
      Q6P141, Q9HCJ3, Q9NPV7
      Related
      ENSP00000294428.3, ENST00000294428.8
      Conserved Domains (3) summary
      cd12664
      Location:70 → 139
      RRM1_RAVER2; RNA recognition motif 1 in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)
      cd12666
      Location:143 → 219
      RRM2_RAVER2; RNA recognition motif 2 in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)
      cd12668
      Location:229 → 326
      RRM3_RAVER2; RNA recognition motif 3 found in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)

    2. NM_018211.4 → NP_060681.2  ribonucleoprotein PTB-binding 2 isoform 2

      See identical proteins and their annotated locations for NP_060681.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB046799, AC093427, AC099678, AL359613
      Consensus CDS
      CCDS41345.1
      UniProtKB/Swiss-Prot
      Q9HCJ3
      Related
      ENSP00000360112.4, ENST00000371072.8
      Conserved Domains (3) summary
      cd12664
      Location:70 → 139
      RRM1_RAVER2; RNA recognition motif 1 in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)
      cd12666
      Location:143 → 219
      RRM2_RAVER2; RNA recognition motif 2 in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)
      cd12668
      Location:229 → 326
      RRM3_RAVER2; RNA recognition motif 3 found in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      64745075..64833232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541706.3 → XP_011540008.1  ribonucleoprotein PTB-binding 2 isoform X1

      Conserved Domains (3) summary
      cd12664
      Location:70 → 139
      RRM1_RAVER2; RNA recognition motif 1 in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)
      cd12666
      Location:143 → 219
      RRM2_RAVER2; RNA recognition motif 2 in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)
      cd12668
      Location:229 → 326
      RRM3_RAVER2; RNA recognition motif 3 found in vertebrate ribonucleoprotein PTB-binding 2 (raver-2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      64623084..64711231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337428.1 → XP_054193403.1  ribonucleoprotein PTB-binding 2 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018716.1: Suppressed sequence

      Description
      NM_018716.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCJ3.2 GenPept UniProtKB/Swiss-Prot:Q9HCJ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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