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

Gene ID: 10742, updated on 10-Dec-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (17800049..17861298, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (17382656..17443905, complement)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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. 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
  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. Low RAI2 expression is a marker of poor prognosis in breast cancer. Nishikawa S, et al. Breast Cancer Res Treat, 2021 May. PMID 33782811
  5. Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22. Walpole SM, et al. Genomics, 1999 Feb 1. PMID 10049581

See all (31) 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)

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 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 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_2024_08

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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