Gene Gene information from NCBI Gene database.
Entrez ID 29994
Gene name Bromodomain adjacent to zinc finger domain 2B
Gene symbol BAZ2B
Synonyms (NCBI Gene)
WALp4
Chromosome 2
Chromosome location 2q24.2
Summary 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.
4
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.
344
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 10662543, 25416956, 32296183
GO:0005634 Component Nucleus IDA 25593309
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605683 963 ENSG00000123636
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BAZ2B-associated neurodevelopmental disorder Likely pathogenic rs2471337904 RCV004763597
BAZ2B-related disorder Pathogenic; Likely pathogenic rs2546859168, rs2547061538, rs2546822495, rs1296034887, rs2547457958 RCV003234632
RCV003234633
RCV003234634
RCV003234635
RCV003234636
BAZ2B-related Neurodevelopmental disorder Likely pathogenic rs2149798268, rs2546860508 RCV002221701
RCV003228595
Neurodevelopmental disorder Pathogenic rs1575883384, rs1576949430, rs780189423 RCV001007691
RCV001007690
RCV001007689
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs16843906 RCV005935561
Cervical cancer Likely benign rs200551916 RCV005939072
Clear cell carcinoma of kidney Benign; Likely benign rs16843906, rs200551916 RCV005935564
RCV005939073
Colon adenocarcinoma Benign; Likely benign rs16843906, rs200904019 RCV005935560
RCV005907654
Associations from Text MiningDisease associations identified through Pubtator
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