Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27443
Gene name Gene Name - the full gene name approved by the HGNC.
CECR2 histone acetyl-lysine reader
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CECR2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.1-q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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 g
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048371 hsa-miR-29b-3p CLASH 23622248
MIRT043615 hsa-miR-151a-3p CLASH 23622248
MIRT041997 hsa-miR-484 CLASH 23622248
MIRT036153 hsa-miR-1296-5p CLASH 23622248
MIRT514011 hsa-miR-6782-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001842 Process Neural fold formation IEA
GO:0001843 Process Neural tube closure IEA
GO:0005634 Component Nucleus IDA 12762840
GO:0006309 Process Apoptotic DNA fragmentation TAS 12762840
GO:0007010 Process Cytoskeleton organization NAS 11827465
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607576 1840 ENSG00000099954
Protein
UniProt ID Q9BXF3
Protein name Chromatin remodeling regulator CECR2 (Cat eye syndrome critical region protein 2)
Protein function Regulatory subunit of the ATP-dependent CERF-1 and CERF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription,
PDB 3NXB , 5V84 , 8RU1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00439 Bromodomain 443 526 Bromodomain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.
Sequence
MCPEEGGAAGLGELRSWWEVPAIAHFCSLFRTAFRLPDFEIEELEAALHRDDVEFISDLI
ACLLQGCYQRRDITPQTFHSYLEDIINYRWELEEGKPNPLREASFQDLPLRTRVEILHRL
CDYRLDADDVFDLLKGLDADSLRVEPLGEDNSGALYWYFYGTRMYKEDPVQGKSNGELSL
SRESEGQKNVSSIPGKTGKRRGRPPKRKKLQEEILLSEKQEENSLASEPQTRHGSQGPGQ
GTWWLLCQTEEEWRQVTESFRERTSLRERQLYKLLSEDFLPEICNMIAQKGKRPQRTKAE
LHPRWMSDHLSIKPVKQEETPVLTRIEKQKRKEEEEERQILLAVQKKEQEQMLKEERKRE
LEEKVKAVEGMCSVRVVWRGACLSTSRPVDRAKRRKLREERAWLLAQGKELPPELSHLDP
NSPMREEKKTKDLFELDDDFTAMYKVLDVVKAHKDSWPFLEPVDESYAPNYYQIIKAPMD
ISSMEKKLNGGLYCTKEEFVNDMKTMFRNCRKYNGESSEYTKMSDN
LERCFHRAMMKHFP
GEDGDTDEEFWIREDEKREKRRSRAGRSGGSHVWTRSRDPEGSSRKQQPMENGGKSLPPT
RRAPSSGDDQSSSSTQPPREVGTSNGRGFSHPLHCGGTPSQAPFLNQMRPAVPGTFGPLR
GSDPATLYGSSGVPEPHPGEPVQQRQPFTMQPPVGINSLRGPRLGTPEEKQMCGGLTHLS
NMGPHPGSLQLGQISGPSQDGSMYAPAQFQPGFIPPRHGGAPARPPDFPESSEIPPSHMY
RSYKYLNRVHSAVWNGNHGATNQGPLGPDEKPHLGPGPSHQPRTLGHVMDSRVMRPPVPP
NQWTEQSGFLPHGVPSSGYMRPPCKSAGHRLQPPPVPAPSSLFGAPAQALRGVQGGDSMM
DSPEMIAMQQLSSRVCPPGVPYHPHQPAHPRLPGPFPQVAHPMSVTVSAPKPALGNPGRA
PENSEAQEPENDQAEPLPGLEEKPPGVGTSEGVYLTQLPHPTPPLQTDCTRQSSPQERET
VGPELKSSSSESADNCKAMKGKNPWPSDSSYPGPAAQGCVRDLSTVADRGALSENGVIGE
ASPCGSEGKGLGSSGSEKLLCPRGRTLQETMPCTGQNAATPPSTDPGLTGGTVSQFPPLY
MPGLEYPNSAAHYHISPGLQGVGPVMGGKSPASHPQHFPPRGFQSNHPHSGGFPRYRPPQ
GMRYSYHPPPQPSYHHYQRTPYYACPQSFSDWQRPLHPQGSPSGPPASQPPPPRSLFSDK
NAMASLQGCETLNAALTSPTRMDAVAAKVPNDGQNPGPEEEKLDESMERPESPKEFLDLD
NHNAATKRQSSLSASEYLYGTPPPLSSGMGFGSSAFPPHSVMLQTGPPYTPQRPASHFQP
RAYSSPVAALPPHHPGATQPNGLSQEGPIYRCQEEGLGHFQAVMMEQIGTRSGIRGPFQE
MYRPSGMQMHPVQSQASFPKTPTAATSQEEVPPHKPPTLPLDQS
Sequence length 1484
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  ATP-dependent chromatin remodeling  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anencephaly Iniencephaly, Exencephaly rs773607884 15640247
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Neural tube defect Neural Tube Defects rs121434297, rs137853061, rs137853062, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs781461462, rs1114167354
View all (26 more)
15640247
Associations from Text Mining
Disease Name Relationship Type References
Anorectal Malformations Associate 22395867
Anus Imperforate Associate 22395867
Neoplasms Associate 33004947
Preauricular Tag Isolated Autosomal Dominant 1 Associate 22395867
Schmid Fraccaro syndrome Associate 12762840, 22395867, 33004947