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

Summary

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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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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

SHGC-68610 (e-PCR)
- UniSTS:100654

RH94025 (e-PCR)
- UniSTS:90417

SHGC-83987 (e-PCR)
- UniSTS:104552

RH36543 (e-PCR)
- UniSTS:50813

RAI2__5640 (e-PCR)
- UniSTS:463847

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

NG_016739.2 RefSeqGene

Range

5000..66249

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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

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
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