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This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
CECR2 (CECR2 Histone Acetyl-Lysine Reader) is a Protein Coding gene. Diseases associated with CECR2 include Cat Eye Syndrome and Neural Tube Defects. An important paralog of this gene is BPTF.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH22J017359 | Enhancer | 0.8 | Ensembl | 250.7 | -0.2 | -164 | 0.4 | IKZF1 VEZF1 GABPA TAL1 FOSL1 SMARCA4 PKNOX1 FOXM1 TCF12 MTA2 | CECR2 MK280144-447 ADA2 | |
GH22J017357 | Enhancer | 0.4 | Ensembl ENCODE | 255.5 | -1.8 | -1848 | 0.6 | EZH2 | CECR2 MK280144-447 ADA2 | |
GH22J017456 | Promoter | 0.3 | EPDnew | 261.1 | +96.3 | 96346 | 0.1 | CECR2 lnc-ATP6V1E1-4 piR-30791-062 piR-35312-022 RF00017-3742 SLC25A18 | ||
GH22J017358 | Enhancer | 0.3 | Ensembl | 250.7 | -1.2 | -1248 | 0.2 | EZH2 | CECR2 MK280144-447 ADA2 | |
GH22J017216 | Promoter/Enhancer | 1.6 | EPDnew FANTOM5 Ensembl ENCODE | 11.4 | -140.9 | -140930 | 5.7 | BCL11A SP1 GABPA EBF1 SMARCA5 MAX SPI1 BHLHE40 BATF POLR2A | ADA2 piR-43105-414 CECR3 CECR2 ATP6V1E1 BCL2L13 IL17RA lnc-IL17RA-34 HDHD5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000791 | euchromatin | IEA | -- |
GO:0005634 | nucleus | IDA | 12762840 |
GO:0031010 | ISWI-type complex | IEA | -- |
GO:0090537 | CERF complex | IEA,IDA | 15640247 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001842 | neural fold formation | IEA | -- |
GO:0001843 | neural tube closure | IEA | -- |
GO:0006309 | apoptotic DNA fragmentation | TAS | 12762840 |
GO:0006325 | chromatin organization | IEA | -- |
GO:0007010 | cytoskeleton organization | NAS | 11827465 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CECR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CECR2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cecr2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cecr2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | CECR2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CECR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CECR2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CECR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cecr2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CECR2 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | dikar 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SPT7 33 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10427665 | Benign: not provided | 17,548,287(+) |
A/G NM_001290046.1(CECR2):c.2508A>G (p.Thr836=) |
SYNONYMOUS | |
rs114626178 | Benign: not provided | 17,542,684(+) |
C/T NM_001290046.1(CECR2):c.2052C>T (p.Ala684=) |
SYNONYMOUS | |
rs143595262 | Benign: not provided | 17,524,110(+) |
C/T NM_001290046.1(CECR2):c.466-8C>T |
INTRON | |
rs146231898 | Benign: not provided | 17,549,256(+) |
G/A NM_001290046.1(CECR2):c.3477G>A (p.Pro1159=) |
SYNONYMOUS | |
rs182143214 | Benign: not provided | 17,548,476(+) |
T/C NM_001290046.1(CECR2):c.2697T>C (p.Pro899=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1445753 | CNV | insertion | 17803354 |
esv1698398 | CNV | insertion | 17803354 |
esv2102074 | CNV | deletion | 18987734 |
esv2392011 | CNV | deletion | 18987734 |
esv2575631 | CNV | deletion | 19546169 |
esv2658171 | CNV | deletion | 23128226 |
esv2677375 | CNV | deletion | 23128226 |
esv2723948 | CNV | deletion | 23290073 |
esv2723949 | CNV | deletion | 23290073 |
esv3366021 | CNV | duplication | 20981092 |
esv3557896 | CNV | deletion | 23714750 |
esv3557897 | CNV | deletion | 23714750 |
esv3647218 | CNV | loss | 21293372 |
esv3647219 | CNV | loss | 21293372 |
esv3647220 | CNV | loss | 21293372 |
esv3647221 | CNV | loss | 21293372 |
esv3893427 | CNV | gain | 25118596 |
esv4131 | CNV | loss | 18987735 |
esv7333 | CNV | loss | 19470904 |
nsv1114305 | CNV | deletion | 24896259 |
nsv3553 | CNV | deletion | 18451855 |
nsv428385 | CNV | gain+loss | 18775914 |
nsv438324 | CNV | loss | 16468122 |
nsv459335 | CNV | gain | 19166990 |
nsv510802 | CNV | deletion | 20534489 |
nsv513582 | CNV | insertion | 21212237 |
nsv513583 | CNV | insertion | 21212237 |
nsv526826 | CNV | gain | 19592680 |
nsv588099 | CNV | gain | 21841781 |
nsv834118 | CNV | loss | 17160897 |
nsv9871 | CNV | loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cat eye syndrome |
|
|
neural tube defects |
|
|