Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29994
Gene name Gene Name - the full gene name approved by the HGNC.
Bromodomain adjacent to zinc finger domain 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BAZ2B
Synonyms (NCBI Gene) Gene synonyms aliases
WALp4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs767318278 G>A,C Pathogenic, uncertain-significance Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs780189423 G>A,T Pathogenic Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs1575883384 T>A Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1576949430 C>T Pathogenic Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016898 hsa-miR-335-5p Microarray 18185580
MIRT042447 hsa-miR-424-5p CLASH 23622248
MIRT670222 hsa-miR-383-3p HITS-CLIP 23824327
MIRT670221 hsa-miR-6746-5p HITS-CLIP 23824327
MIRT670218 hsa-miR-4284 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 10662543
GO:0005634 Component Nucleus IEA
GO:0006338 Process Chromatin remodeling TAS 28801535
GO:0006357 Process Regulation of transcription by RNA polymerase II NAS 10662543
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605683 963 ENSG00000123636
Protein
UniProt ID Q9UIF8
Protein name Bromodomain adjacent to zinc finger domain protein 2B (hWALp4)
Protein function Regulatory subunit of the ATP-dependent BRF-1 and BRF-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, an
PDB 2E7O , 3G0L , 3Q2F , 4CUP , 4CUQ , 4CUR , 4CUS , 4CUT , 4CUU , 4IR3 , 4IR4 , 4IR5 , 4IR6 , 4NR9 , 4NRA , 4NRB , 4NRC , 4QC1 , 4QC3 , 4QF3 , 4RVR , 4XUA , 4XUB , 5CQ3 , 5CQ4 , 5CQ5 , 5CQ6 , 5CQ7 , 5CQ8 , 5CQA , 5CU8 , 5CUA , 5CUB , 5CUC , 5CUD , 5CUE , 5CUG , 5DYU , 5DYX , 5E73 , 5E74 , 5E9I , 5E9K , 5E9L , 5E9M , 5E9Y , 5L8T , 5L8U , 5L96 , 5L97 , 5L98
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01429 MBD 739 813 Methyl-CpG binding domain Domain
PF02791 DDT 1088 1149 DDT domain Family
PF15613 WSD 1372 1477 Williams-Beuren syndrome DDT (WSD), D-TOX E motif Family
PF00628 PHD 1933 1981 PHD-finger Domain
PF00439 Bromodomain 2069 2151 Bromodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at varying levels in several tissues, whereas a smaller transcript was expressed specifically in testis.
Sequence
MESGERLPSSAASSTTPTSSSTPSVASVVSKGGLSTGVASLSSTINPCGHLFRTAGDQPF
NLSTVSSAFPMVSHPVFGLHSASSGHSEFGGLGTLGTPTALAAHPQLASFPGAEWWRTTD
AHTRTGATFFPPLLGIPPLFAPPAQNHDSSSFHSRTSGKSNRNGPEKGVNGSINGSNTSS
VIGINTSVLSTTASSSMGQTKSTSSGGGNRKCNQEQSKNQPLDARVDKIKDKKPRKKAME
SSSNSDSDSGTSSDTSSEGISSSDSDDLEEDEEEEDQSIEESEDDDSDSESEAQHKSNNQ
VLLHGISDPKADGQKATEKAQEKRIHQPLPLASESQTHSFQSQQKQPQVLSQQLPFIFQS
SQAKEESVNKHTSVIQSTGLVSNVKPLSLVNQAKKETYMKLIVPSPDVLKAGNKNTSEES
SLLTSELRSKREQYKQAFPSQLKKQESSKSLKKVIAALSNPKATSSSPAHPKQTLENNHP
NPFLTNALLGNHQPNGVIQSVIQEAPLALTTKTKMQSKINENIAAASSTPFSSPVNLSTS
GRRTPGNQTPVMPSASPILHSQGKEKAVSNNVNPVKTQHHSHPAKSLVEQFRGTDSDIPS
SKDSEDSNEDEEEDDEEEDEEDDEDDESDDSQSESDSNSESDTEGSEEEDDDDKDQDESD
SDTEGEKTSMKLNKTTSSVKSPSMSLTGHSTPRNLHIAKAPGSAPAALCSESQSPAFLGT
SSSTLTSSPHSGTSKRRRVTDERELRIPLEYGWQRETRIRNFGGRLQGEVAYYAPCGKKL
RQYPEVIKYLSRNGIMDISRDNFSFSAKIRVGD
FYEARDGPQGMQWCLLKEEDVIPRIRA
MEGRRGRPPNPDRQRAREESRMRRRKGRPPNVGNAEFLDNADAKLLRKLQAQEIARQAAQ
IKLLRKLQKQEQARVAKEAKKQQAIMAAEEKRKQKEQIKIMKQQEKIKRIQQIRMEKELR
AQQILEAKKKKKEEAANAKLLEAEKRIKEKEMRRQQAVLLKHQERERRRQHMMLMKAMEA
RKKAEEKERLKQEKRDEKRLNKERKLEQRRLELEMAKELKKPNEDMCLADQKPLPELPRI
PGLVLSGSTFSDCLMVVQFLRNFGKVLGFDVNIDVPNLSVLQEGLLNIGDSMGEVQDLLV
RLLSAAVCD
PGLITGYKAKTALGEHLLNVGVNRDNVSEILQIFMEAHCGQTELTESLKTK
AFQAHTPAQKASVLAFLINELACSKSVVSEIDKNIDYMSNLRRDKWVVEGKLRKLRIIHA
KKTGKRDTSGGIDLGEEQHPLGTPTPGRKRRRKGGDSDYDDDDDDDSDDQGDEDDEDEED
KEDKKGKKTDICEDEDEGDQAASVEELEKQIEKLSKQQSQYRRKLFDASHSLRSVMFGQD
RYRRRYWILPQCGGIFVEGMESGEGLEEIAKEREKLKKAESVQIKEEMFETSGDSLNCSN
TDHCEQKEDLKEKDNTNLFLQKPGSFSKLSKLLEVAK
MPPESEVMTPKPNAGANGCTLSY
QNSGKHSLGSVQSTATQSNVEKADSNNLFNTGSSGPGKFYSPLPNDQLLKTLTEKNRQWF
SLLPRTPCDDTSLTHADMSTASLVTPQSQPPSKSPSPTPAPLGSSAQNPVGLNPFALSPL
QVKGGVSMMGLQFCGWPTGVVTSNIPFTSSVPSLGSGLGLSEGNGNSFLTSNVASSKSES
PVPQNEKATSAQPAAVEVAKPVDFPSPKPIPEEMQFGWWRIIDPEDLKALLKVLHLRGIR
EKALQKQIQKHLDYITQACLKNKDVAIIELNENEENQVTRDIVENWSVEEQAMEMDLSVL
QQVEDLERRVASASLQVKGWMCPEPASEREDLVYFEHKSFTKLCKEHDGEFTGEDESSAH
ALERKSDNPLDIAVTRLADLERNIERRIEEDIAPGLRVWRRALSEARSAAQVALCIQQLQ
KSIAWEKSIMKVYCQICRKGDNEELLLLCDGCDKGCHTYCHRPKITTIPDGDWFCPACIA
K
ASGQTLKIKKLHVKGKKTNESKKGKKVTLTGDTEDEDSASTSSSLKRGNKDLKKRKMEE
NTSINLSKQESFTSVKKPKRDDSKDLALCSMILTEMETHEDAWPFLLPVNLKLVPGYKKV
IKKPMDFSTIREKLSSGQYPNLETFALDVRLVFDNCETFNEDDSDIGRAGH
NMRKYFEKK
WTDTFKVS
Sequence length 2168
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
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752 17632509
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder, neurodevelopmental disorder GenCC
Hypothyroidism Hypothyroidism GWAS
Insomnia Insomnia GWAS
Restless Legs Syndrome Restless Legs Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 31999386
Death Sudden Cardiac Associate 21738491
Developmental Disabilities Associate 31999386
Intellectual Disability Associate 31999386
Triple Negative Breast Neoplasms Associate 31000582