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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]
RAI2 (Retinoic Acid Induced 2) is a Protein Coding gene. Diseases associated with RAI2 include Nance-Horan Syndrome and Dextrocardia. Among its related pathways are Neuroscience. An important paralog of this gene is SOBP.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ017859 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE | 600.7 | +0.8 | 845 | 2.6 | PRDM10 ZSCAN4 POLR2A PATZ1 EZH2 ZNF341 ZBTB20 SP2 RAD21 ZBTB10 | RAI2 lnc-BEND2-2 SCML1 | |
GH0XJ017412 | Enhancer | 0.9 | ENCODE | 20.9 | +446.9 | 446864 | 4.5 | PRDM10 ZNF629 RFX1 ZNF692 PRDM1 ZSCAN4 PATZ1 IKZF2 ZNF148 CEBPB | RAI2 NHS CTPS2 TXLNG SCML1 RBBP7 RF00017-8185 piR-43105-686 | |
GH0XJ017793 | Enhancer | 0.2 | Ensembl | 11.9 | +67.8 | 67845 | 0.6 | RAI2 SCML1 piR-46002-602 lnc-BEND2-2 | ||
GH0XJ017735 | Promoter/Enhancer | 2.3 | UCNEbase EPDnew Ensembl ENCODE CraniofacialAtlas | 0.1 | +123.3 | 123265 | 5.8 | SP1 CREB1 GATAD2A PRDM10 ZNF629 KDM1A ZNF692 RCOR2 TARDBP FOXA1 | SCML1 lnc-RAI2-5 HSALNG0136860 RAI2 NHS | |
GH0XJ017809 | Enhancer | 0.7 | Ensembl | 0.2 | +51.7 | 51745 | 0.8 | ZIC2 ZSCAN4 ZNF561 TCF7L2 ZXDB OSR2 ZNF580 ZNF423 SCRT1 ZBTB11 | piR-46002-602 lnc-BEND2-2 RAI2 SCML1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009792 | embryo development ending in birth or egg hatching | NAS | 10049581 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||
SP6: | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAI2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAI2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rai2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rai2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | RAI2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAI2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAI2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAI2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rai2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101885820 30 |
|
||
RAI2 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719850 | Benign: not provided | 17,800,748(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
727508 | Benign: not provided | 17,801,789(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
737181 | Likely Benign: not provided | 17,801,480(-) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
740738 | Likely Benign: not provided | 17,800,625(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
780685 | Benign: not provided | 17,801,238(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1144318 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nance-horan syndrome |
|
|
dextrocardia |
|
|
colon lymphoma |
|
|
decubitus ulcer |
|
|
chronic ulcer of skin |
|
|