UniProtKB - Q9BXF3 (CECR2_HUMAN)
Protein
Cat eye syndrome critical region protein 2
Gene
CECR2
Organism
Homo sapiens (Human)
Status
Functioni
Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex (PubMed:15640247, PubMed:26365797, PubMed:22464331). It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797, PubMed:22464331). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465).By similarity4 Publications
Miscellaneous
Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.1 Publication
GO - Biological processi
- apoptotic DNA fragmentation Source: HGNC-UCL
- ATP-dependent chromatin remodeling Source: MGI
- cochlea development Source: Ensembl
- cytoskeleton-dependent cytokinesis Source: UniProtKB
- cytoskeleton organization Source: UniProtKB
- execution phase of apoptosis Source: BHF-UCL
- inner ear receptor cell stereocilium organization Source: Ensembl
- neural fold formation Source: Ensembl
- neural tube closure Source: Ensembl
- single fertilization Source: GO_Central
- vesicle-mediated transport Source: UniProtKB
Keywordsi
Molecular function | Chromatin regulator |
Enzyme and pathway databases
PathwayCommonsi | Q9BXF3 |
Names & Taxonomyi
Protein namesi | Recommended name: Cat eye syndrome critical region protein 2 |
Gene namesi | Name:CECR2 Synonyms:KIAA1740 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1840, CECR2 |
MIMi | 607576, gene |
neXtProti | NX_Q9BXF3 |
VEuPathDBi | HostDB:ENSG00000099954.18 |
Subcellular locationi
Nucleus
- CERF complex Source: MGI
- nuclear euchromatin Source: GO_Central
- nucleus Source: HGNC-UCL
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 27443 |
OpenTargetsi | ENSG00000099954 |
PharmGKBi | PA26383 |
Miscellaneous databases
Pharosi | Q9BXF3, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3108639 |
GuidetoPHARMACOLOGYi | 2733 |
Genetic variation databases
BioMutai | CECR2 |
DMDMi | 114152782 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000211192 | 1 – 1484 | Cat eye syndrome critical region protein 2Add BLAST | 1484 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 422 | PhosphoserineCombined sources | 1 | |
Modified residuei | 546 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 571 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1014 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1197 | Asymmetric dimethylarginineBy similarity | 1 | |
Modified residuei | 1203 | Asymmetric dimethylarginineBy similarity | 1 | |
Modified residuei | 1312 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
jPOSTi | Q9BXF3 |
MassIVEi | Q9BXF3 |
PaxDbi | Q9BXF3 |
PeptideAtlasi | Q9BXF3 |
PRIDEi | Q9BXF3 |
ProteomicsDBi | 79417 [Q9BXF3-1] 79418 [Q9BXF3-2] 79419 [Q9BXF3-3] |
PTM databases
iPTMneti | Q9BXF3 |
PhosphoSitePlusi | Q9BXF3 |
Expressioni
Tissue specificityi
Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.
Gene expression databases
Bgeei | ENSG00000099954, Expressed in gastrocnemius and 161 other tissues |
ExpressionAtlasi | Q9BXF3, baseline and differential |
Genevisiblei | Q9BXF3, HS |
Organism-specific databases
HPAi | ENSG00000099954, Tissue enhanced (brain, skeletal muscle) |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 118176, 8 interactors |
ComplexPortali | CPX-446, CERF complex |
CORUMi | Q9BXF3 |
IntActi | Q9BXF3, 2 interactors |
STRINGi | 9606.ENSP00000341219 |
Chemistry databases
BindingDBi | Q9BXF3 |
Miscellaneous databases
RNActi | Q9BXF3, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9BXF3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9BXF3 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 451 – 521 | BromoPROSITE-ProRule annotationAdd BLAST | 71 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 333 – 337 | Poly-Glu | 5 | |
Compositional biasi | 611 – 614 | Poly-Ser | 4 | |
Compositional biasi | 1250 – 1253 | Poly-Pro | 4 |
Domaini
The Bromo domain recognizes and binds acetylated histones (PubMed:22464331). Also recognizes and binds histones that are butyrylated (PubMed:26365797).2 Publications
Keywords - Domaini
BromodomainPhylogenomic databases
eggNOGi | KOG1472, Eukaryota |
GeneTreei | ENSGT00940000160360 |
InParanoidi | Q9BXF3 |
OMAi | IPCTGQN |
OrthoDBi | 379050at2759 |
PhylomeDBi | Q9BXF3 |
TreeFami | TF324727 |
Family and domain databases
Gene3Di | 1.20.920.10, 1 hit |
InterProi | View protein in InterPro IPR001487, Bromodomain IPR036427, Bromodomain-like_sf IPR018359, Bromodomain_CS IPR029614, CECR2 |
PANTHERi | PTHR47092, PTHR47092, 1 hit |
Pfami | View protein in Pfam PF00439, Bromodomain, 1 hit |
PRINTSi | PR00503, BROMODOMAIN |
SMARTi | View protein in SMART SM00297, BROMO, 1 hit |
SUPFAMi | SSF47370, SSF47370, 1 hit |
PROSITEi | View protein in PROSITE PS00633, BROMODOMAIN_1, 1 hit PS50014, BROMODOMAIN_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform A (identifier: Q9BXF3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MCPEEGGAAG LGELRSWWEV PAIAHFCSLF RTAFRLPDFE IEELEAALHR
60 70 80 90 100
DDVEFISDLI ACLLQGCYQR RDITPQTFHS YLEDIINYRW ELEEGKPNPL
110 120 130 140 150
REASFQDLPL RTRVEILHRL CDYRLDADDV FDLLKGLDAD SLRVEPLGED
160 170 180 190 200
NSGALYWYFY GTRMYKEDPV QGKSNGELSL SRESEGQKNV SSIPGKTGKR
210 220 230 240 250
RGRPPKRKKL QEEILLSEKQ EENSLASEPQ TRHGSQGPGQ GTWWLLCQTE
260 270 280 290 300
EEWRQVTESF RERTSLRERQ LYKLLSEDFL PEICNMIAQK GKRPQRTKAE
310 320 330 340 350
LHPRWMSDHL SIKPVKQEET PVLTRIEKQK RKEEEEERQI LLAVQKKEQE
360 370 380 390 400
QMLKEERKRE LEEKVKAVEG MCSVRVVWRG ACLSTSRPVD RAKRRKLREE
410 420 430 440 450
RAWLLAQGKE LPPELSHLDP NSPMREEKKT KDLFELDDDF TAMYKVLDVV
460 470 480 490 500
KAHKDSWPFL EPVDESYAPN YYQIIKAPMD ISSMEKKLNG GLYCTKEEFV
510 520 530 540 550
NDMKTMFRNC RKYNGESSEY TKMSDNLERC FHRAMMKHFP GEDGDTDEEF
560 570 580 590 600
WIREDEKREK RRSRAGRSGG SHVWTRSRDP EGSSRKQQPM ENGGKSLPPT
610 620 630 640 650
RRAPSSGDDQ SSSSTQPPRE VGTSNGRGFS HPLHCGGTPS QAPFLNQMRP
660 670 680 690 700
AVPGTFGPLR GSDPATLYGS SGVPEPHPGE PVQQRQPFTM QPPVGINSLR
710 720 730 740 750
GPRLGTPEEK QMCGGLTHLS NMGPHPGSLQ LGQISGPSQD GSMYAPAQFQ
760 770 780 790 800
PGFIPPRHGG APARPPDFPE SSEIPPSHMY RSYKYLNRVH SAVWNGNHGA
810 820 830 840 850
TNQGPLGPDE KPHLGPGPSH QPRTLGHVMD SRVMRPPVPP NQWTEQSGFL
860 870 880 890 900
PHGVPSSGYM RPPCKSAGHR LQPPPVPAPS SLFGAPAQAL RGVQGGDSMM
910 920 930 940 950
DSPEMIAMQQ LSSRVCPPGV PYHPHQPAHP RLPGPFPQVA HPMSVTVSAP
960 970 980 990 1000
KPALGNPGRA PENSEAQEPE NDQAEPLPGL EEKPPGVGTS EGVYLTQLPH
1010 1020 1030 1040 1050
PTPPLQTDCT RQSSPQERET VGPELKSSSS ESADNCKAMK GKNPWPSDSS
1060 1070 1080 1090 1100
YPGPAAQGCV RDLSTVADRG ALSENGVIGE ASPCGSEGKG LGSSGSEKLL
1110 1120 1130 1140 1150
CPRGRTLQET MPCTGQNAAT PPSTDPGLTG GTVSQFPPLY MPGLEYPNSA
1160 1170 1180 1190 1200
AHYHISPGLQ GVGPVMGGKS PASHPQHFPP RGFQSNHPHS GGFPRYRPPQ
1210 1220 1230 1240 1250
GMRYSYHPPP QPSYHHYQRT PYYACPQSFS DWQRPLHPQG SPSGPPASQP
1260 1270 1280 1290 1300
PPPRSLFSDK NAMASLQGCE TLNAALTSPT RMDAVAAKVP NDGQNPGPEE
1310 1320 1330 1340 1350
EKLDESMERP ESPKEFLDLD NHNAATKRQS SLSASEYLYG TPPPLSSGMG
1360 1370 1380 1390 1400
FGSSAFPPHS VMLQTGPPYT PQRPASHFQP RAYSSPVAAL PPHHPGATQP
1410 1420 1430 1440 1450
NGLSQEGPIY RCQEEGLGHF QAVMMEQIGT RSGIRGPFQE MYRPSGMQMH
1460 1470 1480
PVQSQASFPK TPTAATSQEE VPPHKPPTLP LDQS
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB7WPH3 | B7WPH3_HUMAN | Cat eye syndrome critical region pr... | CECR2 | 1,300 | Annotation score: | ||
A0A087WT21 | A0A087WT21_HUMAN | Cat eye syndrome critical region pr... | CECR2 | 1,442 | Annotation score: | ||
A0A0R4J2E1 | A0A0R4J2E1_HUMAN | Cat eye syndrome critical region pr... | CECR2 | 1,301 | Annotation score: | ||
H0Y2Z1 | H0Y2Z1_HUMAN | Cat eye syndrome critical region pr... | CECR2 | 218 | Annotation score: |
Sequence cautioni
The sequence CAH56122 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAH56212 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence EAW57756 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 352 | M → I in CAH56122 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 352 | M → I in CAH56212 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1029 | S → C in AAK15343 (PubMed:11381032).Curated | 1 | |
Sequence conflicti | 1045 | W → R in AAK15343 (PubMed:11381032).Curated | 1 | |
Sequence conflicti | 1441 | M → T in CAH56122 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1441 | M → T in CAH56212 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027411 | 293 | R → H. Corresponds to variant dbSNP:rs5747211Ensembl. | 1 | |
Natural variantiVAR_027412 | 674 | P → L2 PublicationsCorresponds to variant dbSNP:rs1296794Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000571 | 291 – 318 | Missing in isoform B. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_020407 | 370 – 389 | Missing in isoform C. 2 PublicationsAdd BLAST | 20 | |
Alternative sequenceiVSP_000572 | 519 – 526 | EYTKMSDN → GKQGRSLC in isoform B. 1 Publication | 8 | |
Alternative sequenceiVSP_000573 | 527 – 1484 | Missing in isoform B. 1 PublicationAdd BLAST | 958 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF336133 mRNA Translation: AAK15343.1 AC004019 Genomic DNA No translation available. CH471193 Genomic DNA Translation: EAW57756.1 Different initiation. BX647449 mRNA Translation: CAH56122.1 Different initiation. AL832377 mRNA Translation: CAH56212.1 Different initiation. AB051527 mRNA Translation: BAB21831.1 AF411609 mRNA Translation: AAL07393.1 |
RefSeqi | NP_001276975.1, NM_001290046.1 NP_001276976.1, NM_001290047.1 [Q9BXF3-3] |
Genome annotation databases
Ensembli | ENST00000342247; ENSP00000341219; ENSG00000099954 [Q9BXF3-1] |
GeneIDi | 27443 |
KEGGi | hsa:27443 |
UCSCi | uc062bgi.1, human [Q9BXF3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF336133 mRNA Translation: AAK15343.1 AC004019 Genomic DNA No translation available. CH471193 Genomic DNA Translation: EAW57756.1 Different initiation. BX647449 mRNA Translation: CAH56122.1 Different initiation. AL832377 mRNA Translation: CAH56212.1 Different initiation. AB051527 mRNA Translation: BAB21831.1 AF411609 mRNA Translation: AAL07393.1 |
RefSeqi | NP_001276975.1, NM_001290046.1 NP_001276976.1, NM_001290047.1 [Q9BXF3-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3NXB | X-ray | 1.83 | A/B | 424-538 | [»] | |
5V84 | X-ray | 2.70 | A/B/C/D | 424-538 | [»] | |
SMRi | Q9BXF3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 118176, 8 interactors |
ComplexPortali | CPX-446, CERF complex |
CORUMi | Q9BXF3 |
IntActi | Q9BXF3, 2 interactors |
STRINGi | 9606.ENSP00000341219 |
Chemistry databases
BindingDBi | Q9BXF3 |
ChEMBLi | CHEMBL3108639 |
GuidetoPHARMACOLOGYi | 2733 |
PTM databases
iPTMneti | Q9BXF3 |
PhosphoSitePlusi | Q9BXF3 |
Genetic variation databases
BioMutai | CECR2 |
DMDMi | 114152782 |
Proteomic databases
jPOSTi | Q9BXF3 |
MassIVEi | Q9BXF3 |
PaxDbi | Q9BXF3 |
PeptideAtlasi | Q9BXF3 |
PRIDEi | Q9BXF3 |
ProteomicsDBi | 79417 [Q9BXF3-1] 79418 [Q9BXF3-2] 79419 [Q9BXF3-3] |
Protocols and materials databases
ABCDi | Q9BXF3, 1 sequenced antibody |
Antibodypediai | 283, 62 antibodies |
DNASUi | 27443 |
Genome annotation databases
Ensembli | ENST00000342247; ENSP00000341219; ENSG00000099954 [Q9BXF3-1] |
GeneIDi | 27443 |
KEGGi | hsa:27443 |
UCSCi | uc062bgi.1, human [Q9BXF3-1] |
Organism-specific databases
CTDi | 27443 |
DisGeNETi | 27443 |
GeneCardsi | CECR2 |
HGNCi | HGNC:1840, CECR2 |
HPAi | ENSG00000099954, Tissue enhanced (brain, skeletal muscle) |
MIMi | 607576, gene |
neXtProti | NX_Q9BXF3 |
OpenTargetsi | ENSG00000099954 |
PharmGKBi | PA26383 |
VEuPathDBi | HostDB:ENSG00000099954.18 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1472, Eukaryota |
GeneTreei | ENSGT00940000160360 |
InParanoidi | Q9BXF3 |
OMAi | IPCTGQN |
OrthoDBi | 379050at2759 |
PhylomeDBi | Q9BXF3 |
TreeFami | TF324727 |
Enzyme and pathway databases
PathwayCommonsi | Q9BXF3 |
Miscellaneous databases
BioGRID-ORCSi | 27443, 8 hits in 149 CRISPR screens |
ChiTaRSi | CECR2, human |
EvolutionaryTracei | Q9BXF3 |
GenomeRNAii | 27443 |
Pharosi | Q9BXF3, Tchem |
PROi | PR:Q9BXF3 |
RNActi | Q9BXF3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000099954, Expressed in gastrocnemius and 161 other tissues |
ExpressionAtlasi | Q9BXF3, baseline and differential |
Genevisiblei | Q9BXF3, HS |
Family and domain databases
Gene3Di | 1.20.920.10, 1 hit |
InterProi | View protein in InterPro IPR001487, Bromodomain IPR036427, Bromodomain-like_sf IPR018359, Bromodomain_CS IPR029614, CECR2 |
PANTHERi | PTHR47092, PTHR47092, 1 hit |
Pfami | View protein in Pfam PF00439, Bromodomain, 1 hit |
PRINTSi | PR00503, BROMODOMAIN |
SMARTi | View protein in SMART SM00297, BROMO, 1 hit |
SUPFAMi | SSF47370, SSF47370, 1 hit |
PROSITEi | View protein in PROSITE PS00633, BROMODOMAIN_1, 1 hit PS50014, BROMODOMAIN_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CECR2_HUMAN | |
Accessioni | Q9BXF3Primary (citable) accession number: Q9BXF3 Secondary accession number(s): A8MS90 Q9C0C3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 16, 2002 |
Last sequence update: | September 5, 2006 | |
Last modified: | February 10, 2021 | |
This is version 164 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references