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

Gene ID: 10742, updated on 11-Sep-2019

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
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

Genomic context

See RAI2 in Genome Data Viewer
Location:
Xp22.13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (17800049..17861346, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (17818169..17879457, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Scm polycomb group protein like 1 Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene zinc finger protein 831 pseudogene Neighboring gene MDM4, p53 regulator pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
embryo development ending in birth or egg hatching NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
retinoic acid-induced protein 2

NCBI Reference Sequences (RefSeq)

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_016739.1 RefSeqGene

    Range
    5001..66289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001166203.1

    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)
    AI291859, AK056214, AK298873, DA648693, Z93242
    Consensus CDS
    CCDS55374.1
    UniProtKB/Swiss-Prot
    Q9Y5P3
    UniProtKB/TrEMBL
    B3KPD7
    Related
    ENSP00000392578.2, ENST00000415486.7
  2. NM_001172739.1NP_001166210.1  retinoic acid-induced protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001166210.1

    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)
    AI291859, AK056214, DA648693, Z93242
    Consensus CDS
    CCDS14183.1
    UniProtKB/Swiss-Prot
    Q9Y5P3
    UniProtKB/TrEMBL
    A0A024RBZ8, B3KPD7
    Related
    ENSP00000333456.1, ENST00000331511.5
  3. NM_001172743.1NP_001166214.1  retinoic acid-induced protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001166214.1

    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)
    AI291859, AK056214, BC027937, DA648693, DC420191
    Consensus CDS
    CCDS14183.1
    UniProtKB/Swiss-Prot
    Q9Y5P3
    UniProtKB/TrEMBL
    A0A024RBZ8, B3KPD7
    Related
    ENSP00000444210.1, ENST00000545871.1
  4. NM_021785.5NP_068557.3  retinoic acid-induced protein 2 isoform 1

    See identical proteins and their annotated locations for NP_068557.3

    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)
    AI291859, AK056214, AK314631, Z93242
    Consensus CDS
    CCDS14183.1
    UniProtKB/Swiss-Prot
    Q9Y5P3
    UniProtKB/TrEMBL
    A0A024RBZ8, B2RBE9, B3KPD7
    Related
    ENSP00000401323.1, ENST00000451717.6

RNA

  1. NR_033348.1 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)
    AI291859, AK056214, BC027937, DA377448, DR005700
  2. NR_033349.1 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)
    AI291859, BC027937, DA377448, DR005700, Z93242

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    17800049..17861346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_006724522.1

    UniProtKB/Swiss-Prot
    Q9Y5P3
  2. XM_006724460.1XP_006724523.1  retinoic acid-induced protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006724523.1

    UniProtKB/Swiss-Prot
    Q9Y5P3
  3. XM_011545441.2XP_011543743.1  retinoic acid-induced protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011543743.1

    UniProtKB/Swiss-Prot
    Q9Y5P3
  4. XM_011545439.2XP_011543741.1  retinoic acid-induced protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011543741.1

    UniProtKB/Swiss-Prot
    Q9Y5P3
    Related
    ENSP00000353106.1, ENST00000360011.5
  5. XM_011545440.2XP_011543742.1  retinoic acid-induced protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011543742.1

    UniProtKB/Swiss-Prot
    Q9Y5P3
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