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    RAI2 retinoic acid induced 2 [ Homo sapiens (human) ]

    Gene ID: 10742, updated on 17-Jun-2024

    Summary

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    Official Symbol
    RAI2provided by HGNC
    Official Full Name
    retinoic acid induced 2provided by HGNC
    Primary source
    HGNC:HGNC:9835
    See related
    Ensembl:ENSG00000131831 MIM:300217; AllianceGenome:HGNC:9835
    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
    Summary
    Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked cognitive disability, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in endometrium (RPKM 19.5), ovary (RPKM 15.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAI2 in Genome Data Viewer
    Location:
    Xp22.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (17800049..17861298, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (17382656..17443905, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (17818169..17879418, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:17767905-17769104 Neighboring gene Scm polycomb group protein like 1 Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:17804670-17805440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:17805441-17806211 Neighboring gene zinc finger protein 831 pseudogene Neighboring gene MDM4 pseudogene 1

    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. Expression Patterns and Corepressor Function of Retinoic Acid-induced 2 in Prostate Cancer. Besler K, et al. Clin Chem, 2022 Jul 3. PMID 35652463
    2. Low RAI2 expression is a marker of poor prognosis in breast cancer. Nishikawa S, et al. Breast Cancer Res Treat, 2021 May. PMID 33782811
    3. Retinoic acid-induced 2 (RAI2) is a novel tumor suppressor, and promoter region methylation of RAI2 is a poor prognostic marker in colorectal cancer. Yan W, et al. Clin Epigenetics, 2018. PMID 29796120, Free PMC Article
    4. Suppression of early hematogenous dissemination of human breast cancer cells to bone marrow by retinoic Acid-induced 2. Werner S, et al. Cancer Discov, 2015 May. PMID 25716347
    5. EZH2 affects malignant progression and DNA damage repair of lung adenocarcinoma cells by regulating RAI2 expression. Huang M, et al. Mutat Res, 2022 Jul-Dec. PMID 35939884

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EZH2 affects malignant progression and DNA damage repair of lung adenocarcinoma cells by regulating RAI2 expression.
      Title: EZH2 affects malignant progression and DNA damage repair of lung adenocarcinoma cells by regulating RAI2 expression.
    2. Expression Patterns and Corepressor Function of Retinoic Acid-induced 2 in Prostate Cancer.
      Title: Expression Patterns and Corepressor Function of Retinoic Acid-induced 2 in Prostate Cancer.
    3. Low RAI2 expression is a marker of poor prognosis in breast cancer.
      Title: Low RAI2 expression is a marker of poor prognosis in breast cancer.
    4. RAI2 is frequently methylated in colorectal cancer, and its expression is regulated by promoter region methylation. Methylation of RAI2 is an independent prognostic marker of poor survival. RAI2 suppresses CRC cell growth both in vitro and in vivo. RAI2 induces cell apoptosis and suppresses CRC cell migration and invasion. RAI2 may serve as a tumor suppressor by inhibiting the AKT signaling pathway in CRC.
      Title: Retinoic acid-induced 2 (RAI2) is a novel tumor suppressor, and promoter region methylation of RAI2 is a poor prognostic marker in colorectal cancer.
    5. Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19).The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with Nance-Horan syndromesyndrome and developmental delay.
      Title: A novel Xp22.13 microdeletion in Nance-Horan syndrome.
    6. We specified the role of the RAI2 protein to function as a transcriptional regulator that controls the expression of several key regulators of breast epithelial integrity and cancer.
      Title: Suppression of early hematogenous dissemination of human breast cancer cells to bone marrow by retinoic Acid-induced 2.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in embryo development ending in birth or egg hatching NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    retinoic acid-induced protein 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.

    Genomic

    1. NG_016739.2 RefSeqGene

      Range
      5000..66249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172732.2 → NP_001166203.2  retinoic acid-induced protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks a segment in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      Z93242, Z93929
      Consensus CDS
      CCDS55374.1
      UniProtKB/TrEMBL
      B3KPD7
      Related
      ENSP00000392578.2, ENST00000415486.7

    2. NM_001172739.2 → NP_001166210.2  retinoic acid-induced protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      Z93242, Z93929
      Consensus CDS
      CCDS14183.1
      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7
      Related
      ENSP00000333456.1, ENST00000331511.5

    3. NM_001172743.2 → NP_001166214.2  retinoic acid-induced protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      Z93242, Z93929
      Consensus CDS
      CCDS14183.1
      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7
      Related
      ENSP00000444210.1, ENST00000545871.1

    4. NM_021785.6 → NP_068557.4  retinoic acid-induced protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      Z93242, Z93929
      Consensus CDS
      CCDS14183.1
      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7
      Related
      ENSP00000401323.1, ENST00000451717.6

    RNA

    1. NR_033348.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      Z93242, Z93929

    2. NR_033349.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      Z93242, Z93929

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      17800049..17861298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724460.2 → XP_006724523.1  retinoic acid-induced protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006724523.1

      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7

    2. XM_006724459.3 → XP_006724522.1  retinoic acid-induced protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006724522.1

      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7

    3. XM_011545441.3 → XP_011543743.1  retinoic acid-induced protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011543743.1

      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7

    4. XM_011545439.3 → XP_011543741.1  retinoic acid-induced protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011543741.1

      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7

    5. XM_047441788.1 → XP_047297744.1  retinoic acid-induced protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B1B1K2, B4DQM9, E7EMN4, Q8N6X7, Q9Y5P3
      UniProtKB/TrEMBL
      B3KPD7
      Related
      ENSP00000353106.1, ENST00000360011.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      17382656..17443905 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326397.1 → XP_054182372.1  retinoic acid-induced protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KPD7

    2. XM_054326396.1 → XP_054182371.1  retinoic acid-induced protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KPD7

    3. XM_054326398.1 → XP_054182373.1  retinoic acid-induced protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KPD7

    4. XM_054326395.1 → XP_054182370.1  retinoic acid-induced protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KPD7

    5. XM_054326394.1 → XP_054182369.1  retinoic acid-induced protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KPD7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5P3.2 GenPept UniProtKB/Swiss-Prot:Q9Y5P3

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