• Gene id: 29994

Gene Summary

• Gene Symbol: BAZ2B   Gene   UCSC   Ensembl
• Aliases: WALp4
• Gene name: bromodomain adjacent to zinc finger domain 2B
• Alternate names: bromodomain adjacent to zinc finger domain protein 2B,
• Gene location: 2q24.2 (59139883: 59158836)     Exons: 7     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 605683

Protein Summary

• Protein general information: Q9UIF8  
  • Name: Bromodomain adjacent to zinc finger domain protein 2B (hWALp4)
  • Length: 2168  
  • Mass: 240459
  • Tissue specificity: Expressed at varying levels in several tissues, whereas a smaller transcript was expressed specifically in testis.
• Sequence:

  MESGERLPSSAASSTTPTSSSTPSVASVVSKGGLSTGVASLSSTINPCGHLFRTAGDQPFNLSTVSSAFPMVSHP
  VFGLHSASSGHSEFGGLGTLGTPTALAAHPQLASFPGAEWWRTTDAHTRTGATFFPPLLGIPPLFAPPAQNHDSS
  SFHSRTSGKSNRNGPEKGVNGSINGSNTSSVIGINTSVLSTTASSSMGQTKSTSSGGGNRKCNQEQSKNQPLDAR
  VDKIKDKKPRKKAMESSSNSDSDSGTSSDTSSEGISSSDSDDLEEDEEEEDQSIEESEDDDSDSESEAQHKSNNQ
  VLLHGISDPKADGQKATEKAQEKRIHQPLPLASESQTHSFQSQQKQPQVLSQQLPFIFQSSQAKEESVNKHTSVI
  QSTGLVSNVKPLSLVNQAKKETYMKLIVPSPDVLKAGNKNTSEESSLLTSELRSKREQYKQAFPSQLKKQESSKS
  LKKVIAALSNPKATSSSPAHPKQTLENNHPNPFLTNALLGNHQPNGVIQSVIQEAPLALTTKTKMQSKINENIAA
  ASSTPFSSPVNLSTSGRRTPGNQTPVMPSASPILHSQGKEKAVSNNVNPVKTQHHSHPAKSLVEQFRGTDSDIPS
  SKDSEDSNEDEEEDDEEEDEEDDEDDESDDSQSESDSNSESDTEGSEEEDDDDKDQDESDSDTEGEKTSMKLNKT
  TSSVKSPSMSLTGHSTPRNLHIAKAPGSAPAALCSESQSPAFLGTSSSTLTSSPHSGTSKRRRVTDERELRIPLE
  YGWQRETRIRNFGGRLQGEVAYYAPCGKKLRQYPEVIKYLSRNGIMDISRDNFSFSAKIRVGDFYEARDGPQGMQ
  WCLLKEEDVIPRIRAMEGRRGRPPNPDRQRAREESRMRRRKGRPPNVGNAEFLDNADAKLLRKLQAQEIARQAAQ
  IKLLRKLQKQEQARVAKEAKKQQAIMAAEEKRKQKEQIKIMKQQEKIKRIQQIRMEKELRAQQILEAKKKKKEEA
  ANAKLLEAEKRIKEKEMRRQQAVLLKHQERERRRQHMMLMKAMEARKKAEEKERLKQEKRDEKRLNKERKLEQRR
  LELEMAKELKKPNEDMCLADQKPLPELPRIPGLVLSGSTFSDCLMVVQFLRNFGKVLGFDVNIDVPNLSVLQEGL
  LNIGDSMGEVQDLLVRLLSAAVCDPGLITGYKAKTALGEHLLNVGVNRDNVSEILQIFMEAHCGQTELTESLKTK
  AFQAHTPAQKASVLAFLINELACSKSVVSEIDKNIDYMSNLRRDKWVVEGKLRKLRIIHAKKTGKRDTSGGIDLG
  EEQHPLGTPTPGRKRRRKGGDSDYDDDDDDDSDDQGDEDDEDEEDKEDKKGKKTDICEDEDEGDQAASVEELEKQ
  IEKLSKQQSQYRRKLFDASHSLRSVMFGQDRYRRRYWILPQCGGIFVEGMESGEGLEEIAKEREKLKKAESVQIK
  EEMFETSGDSLNCSNTDHCEQKEDLKEKDNTNLFLQKPGSFSKLSKLLEVAKMPPESEVMTPKPNAGANGCTLSY
  QNSGKHSLGSVQSTATQSNVEKADSNNLFNTGSSGPGKFYSPLPNDQLLKTLTEKNRQWFSLLPRTPCDDTSLTH
  ADMSTASLVTPQSQPPSKSPSPTPAPLGSSAQNPVGLNPFALSPLQVKGGVSMMGLQFCGWPTGVVTSNIPFTSS
  VPSLGSGLGLSEGNGNSFLTSNVASSKSESPVPQNEKATSAQPAAVEVAKPVDFPSPKPIPEEMQFGWWRIIDPE
  DLKALLKVLHLRGIREKALQKQIQKHLDYITQACLKNKDVAIIELNENEENQVTRDIVENWSVEEQAMEMDLSVL
  QQVEDLERRVASASLQVKGWMCPEPASEREDLVYFEHKSFTKLCKEHDGEFTGEDESSAHALERKSDNPLDIAVT
  RLADLERNIERRIEEDIAPGLRVWRRALSEARSAAQVALCIQQLQKSIAWEKSIMKVYCQICRKGDNEELLLLCD
  GCDKGCHTYCHRPKITTIPDGDWFCPACIAKASGQTLKIKKLHVKGKKTNESKKGKKVTLTGDTEDEDSASTSSS
  LKRGNKDLKKRKMEENTSINLSKQESFTSVKKPKRDDSKDLALCSMILTEMETHEDAWPFLLPVNLKLVPGYKKV
  IKKPMDFSTIREKLSSGQYPNLETFALDVRLVFDNCETFNEDDSDIGRAGHNMRKYFEKKWTDTFKVS

• Structural information:
  • Protein Domains: (739..81-)
    (/note="MBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00338-)
    (1087..115-)
    (/note="DDT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00063-)
    (2077..214-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR037374  IPR001487  IPR036427  IPR018359  IPR018501   IPR016177  IPR001739  IPR028941  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS00633 PS50014 PS50827 PS50982 PS50016
  • CDD: cd05503
  • 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 5L99 5MGE 5MGF 5MGG 5OR9 5ORB 5PB7 5PB8 5PB9 5PBA 5PBB 5PBC 5PB
  • PDBsum: 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 5L99 5MGE 5MGF 5MGG 5OR9 5ORB 5PB7 5PB8 5PB9 5PBA 5PBB 5PBC 5PB
  • STRING: ENSP00000376534
• Other Databases: GeneCards:  BAZ2B  Malacards:  BAZ2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0006338	chromatin remodeling	TAS	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq