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

Gene ID: 55225, updated on 5-Mar-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 involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in small intestine (RPKM 13.3), colon (RPKM 12.9) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64745075..64833232)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64623084..64711231)
105.20220307 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. Association of the RAVER2 gene with increased susceptibility for ulcerative colitis. Bouzid D, et al. Hum Immunol, 2012 Jul. PMID 22561236
  2. Transcriptional regulation of the human Raver2 ribonucleoprotein gene. Romanelli MG, et al. Gene, 2012 Feb 10. PMID 22146317
  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 (24) 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)

Genotypes

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_2023_10

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

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