Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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29994
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Bromodomain adjacent to zinc finger domain 2B |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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BAZ2B |
Synonyms (NCBI Gene)
Gene synonyms aliases
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WALp4 |
Chromosome
Chromosome number
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2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q24.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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 |
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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 RQYPEVIKYLSRNGIMDISRDNFSFSAKIRVGDFYEARDGPQGMQWCLLKEEDVIPRIRA MEGRRGRPPNPDRQRAREESRMRRRKGRPPNVGNAEFLDNADAKLLRKLQAQEIARQAAQ IKLLRKLQKQEQARVAKEAKKQQAIMAAEEKRKQKEQIKIMKQQEKIKRIQQIRMEKELR AQQILEAKKKKKEEAANAKLLEAEKRIKEKEMRRQQAVLLKHQERERRRQHMMLMKAMEA RKKAEEKERLKQEKRDEKRLNKERKLEQRRLELEMAKELKKPNEDMCLADQKPLPELPRI PGLVLSGSTFSDCLMVVQFLRNFGKVLGFDVNIDVPNLSVLQEGLLNIGDSMGEVQDLLV RLLSAAVCDPGLITGYKAKTALGEHLLNVGVNRDNVSEILQIFMEAHCGQTELTESLKTK AFQAHTPAQKASVLAFLINELACSKSVVSEIDKNIDYMSNLRRDKWVVEGKLRKLRIIHA KKTGKRDTSGGIDLGEEQHPLGTPTPGRKRRRKGGDSDYDDDDDDDSDDQGDEDDEDEED KEDKKGKKTDICEDEDEGDQAASVEELEKQIEKLSKQQSQYRRKLFDASHSLRSVMFGQD RYRRRYWILPQCGGIFVEGMESGEGLEEIAKEREKLKKAESVQIKEEMFETSGDSLNCSN TDHCEQKEDLKEKDNTNLFLQKPGSFSKLSKLLEVAKMPPESEVMTPKPNAGANGCTLSY QNSGKHSLGSVQSTATQSNVEKADSNNLFNTGSSGPGKFYSPLPNDQLLKTLTEKNRQWF SLLPRTPCDDTSLTHADMSTASLVTPQSQPPSKSPSPTPAPLGSSAQNPVGLNPFALSPL QVKGGVSMMGLQFCGWPTGVVTSNIPFTSSVPSLGSGLGLSEGNGNSFLTSNVASSKSES PVPQNEKATSAQPAAVEVAKPVDFPSPKPIPEEMQFGWWRIIDPEDLKALLKVLHLRGIR EKALQKQIQKHLDYITQACLKNKDVAIIELNENEENQVTRDIVENWSVEEQAMEMDLSVL QQVEDLERRVASASLQVKGWMCPEPASEREDLVYFEHKSFTKLCKEHDGEFTGEDESSAH ALERKSDNPLDIAVTRLADLERNIERRIEEDIAPGLRVWRRALSEARSAAQVALCIQQLQ KSIAWEKSIMKVYCQICRKGDNEELLLLCDGCDKGCHTYCHRPKITTIPDGDWFCPACIA KASGQTLKIKKLHVKGKKTNESKKGKKVTLTGDTEDEDSASTSSSLKRGNKDLKKRKMEE NTSINLSKQESFTSVKKPKRDDSKDLALCSMILTEMETHEDAWPFLLPVNLKLVPGYKKV IKKPMDFSTIREKLSSGQYPNLETFALDVRLVFDNCETFNEDDSDIGRAGHNMRKYFEKK WTDTFKVS
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Sequence length |
2168 |
Interactions |
View interactions
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