Seroatlas · Human Serome Atlas

BAZ2B

Bromodomain adjacent to zinc finger domain protein 2B

Also known as: BAZ2B_HUMAN, WALp4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UIF8
Gene: BAZ2B
Ensembl: ENSG00000123636
Chromosome: 2
Canonical length: 2168 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI 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 screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

2168 residues, UniProt reviewed canonical sequence.

>Q9UIF8|BAZ2B
     1  MESGERLPSS AASSTTPTSS STPSVASVVS KGGLSTGVAS LSSTINPCGH LFRTAGDQPF
    61  NLSTVSSAFP MVSHPVFGLH SASSGHSEFG GLGTLGTPTA LAAHPQLASF PGAEWWRTTD
   121  AHTRTGATFF PPLLGIPPLF APPAQNHDSS SFHSRTSGKS NRNGPEKGVN GSINGSNTSS
   181  VIGINTSVLS TTASSSMGQT KSTSSGGGNR KCNQEQSKNQ PLDARVDKIK DKKPRKKAME
   241  SSSNSDSDSG TSSDTSSEGI SSSDSDDLEE DEEEEDQSIE ESEDDDSDSE SEAQHKSNNQ
   301  VLLHGISDPK ADGQKATEKA QEKRIHQPLP LASESQTHSF QSQQKQPQVL SQQLPFIFQS
   361  SQAKEESVNK HTSVIQSTGL VSNVKPLSLV NQAKKETYMK LIVPSPDVLK AGNKNTSEES
   421  SLLTSELRSK REQYKQAFPS QLKKQESSKS LKKVIAALSN PKATSSSPAH PKQTLENNHP
   481  NPFLTNALLG NHQPNGVIQS VIQEAPLALT TKTKMQSKIN ENIAAASSTP FSSPVNLSTS
   541  GRRTPGNQTP VMPSASPILH SQGKEKAVSN NVNPVKTQHH SHPAKSLVEQ FRGTDSDIPS
   601  SKDSEDSNED EEEDDEEEDE EDDEDDESDD SQSESDSNSE SDTEGSEEED DDDKDQDESD
   661  SDTEGEKTSM KLNKTTSSVK SPSMSLTGHS TPRNLHIAKA PGSAPAALCS ESQSPAFLGT
   721  SSSTLTSSPH SGTSKRRRVT DERELRIPLE YGWQRETRIR NFGGRLQGEV AYYAPCGKKL
   781  RQYPEVIKYL SRNGIMDISR DNFSFSAKIR VGDFYEARDG PQGMQWCLLK EEDVIPRIRA
   841  MEGRRGRPPN PDRQRAREES RMRRRKGRPP NVGNAEFLDN ADAKLLRKLQ AQEIARQAAQ
   901  IKLLRKLQKQ EQARVAKEAK KQQAIMAAEE KRKQKEQIKI MKQQEKIKRI QQIRMEKELR
   961  AQQILEAKKK KKEEAANAKL LEAEKRIKEK EMRRQQAVLL KHQERERRRQ HMMLMKAMEA
  1021  RKKAEEKERL KQEKRDEKRL NKERKLEQRR LELEMAKELK KPNEDMCLAD QKPLPELPRI
  1081  PGLVLSGSTF SDCLMVVQFL RNFGKVLGFD VNIDVPNLSV LQEGLLNIGD SMGEVQDLLV
  1141  RLLSAAVCDP GLITGYKAKT ALGEHLLNVG VNRDNVSEIL QIFMEAHCGQ TELTESLKTK
  1201  AFQAHTPAQK ASVLAFLINE LACSKSVVSE IDKNIDYMSN LRRDKWVVEG KLRKLRIIHA
  1261  KKTGKRDTSG GIDLGEEQHP LGTPTPGRKR RRKGGDSDYD DDDDDDSDDQ GDEDDEDEED
  1321  KEDKKGKKTD ICEDEDEGDQ AASVEELEKQ IEKLSKQQSQ YRRKLFDASH SLRSVMFGQD
  1381  RYRRRYWILP QCGGIFVEGM ESGEGLEEIA KEREKLKKAE SVQIKEEMFE TSGDSLNCSN
  1441  TDHCEQKEDL KEKDNTNLFL QKPGSFSKLS KLLEVAKMPP ESEVMTPKPN AGANGCTLSY
  1501  QNSGKHSLGS VQSTATQSNV EKADSNNLFN TGSSGPGKFY SPLPNDQLLK TLTEKNRQWF
  1561  SLLPRTPCDD TSLTHADMST ASLVTPQSQP PSKSPSPTPA PLGSSAQNPV GLNPFALSPL
  1621  QVKGGVSMMG LQFCGWPTGV VTSNIPFTSS VPSLGSGLGL SEGNGNSFLT SNVASSKSES
  1681  PVPQNEKATS AQPAAVEVAK PVDFPSPKPI PEEMQFGWWR IIDPEDLKAL LKVLHLRGIR
  1741  EKALQKQIQK HLDYITQACL KNKDVAIIEL NENEENQVTR DIVENWSVEE QAMEMDLSVL
  1801  QQVEDLERRV ASASLQVKGW MCPEPASERE DLVYFEHKSF TKLCKEHDGE FTGEDESSAH
  1861  ALERKSDNPL DIAVTRLADL ERNIERRIEE DIAPGLRVWR RALSEARSAA QVALCIQQLQ
  1921  KSIAWEKSIM KVYCQICRKG DNEELLLLCD GCDKGCHTYC HRPKITTIPD GDWFCPACIA
  1981  KASGQTLKIK KLHVKGKKTN ESKKGKKVTL TGDTEDEDSA STSSSLKRGN KDLKKRKMEE
  2041  NTSINLSKQE SFTSVKKPKR DDSKDLALCS MILTEMETHE DAWPFLLPVN LKLVPGYKKV
  2101  IKKPMDFSTI REKLSSGQYP NLETFALDVR LVFDNCETFN EDDSDIGRAG HNMRKYFEKK
  2161  WTDTFKVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BAZ2B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 48 nTPM

Expression across tissuesHPA

Tissue

retina: 48 nTPM
bone marrow: 35 nTPM
ovary: 34 nTPM
endometrium: 31 nTPM
testis: 25 nTPM
gallbladder: 25 nTPM

Single-cell type

neutrophils: 1,303 nCPM
neutrophil progenitors: 958 nCPM
lactotrophs: 785 nCPM
thyrotrophs: 762 nCPM
somatotrophs: 744 nCPM
rod photoreceptor cells: 686 nCPM

Immune cell

neutrophil: 197 nTPM
basophil: 102 nTPM
eosinophil: 32 nTPM
classical monocyte: 25 nTPM
plasmacytoid DC: 23 nTPM
NK-cell: 17 nTPM

Brain region

white matter: 233 nTPM
cerebellum: 204 nTPM
medulla oblongata: 185 nTPM
thalamus: 174 nTPM
basal ganglia: 173 nTPM
hypothalamus: 170 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BAZ2B.

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 540 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

BAZ2B-related disorder
Neurodevelopmental disorder
BAZ2B-related Neurodevelopmental disorder
Inborn genetic diseases
BAZ2B-associated neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.29
gnomAD pLI: 0.98
gnomAD missense Z: 1.33
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BAZ2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BAZ2B as an antibody target. Whether an autoantibody or antibody against BAZ2B could matter depends on whether native BAZ2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BAZ2B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BAZ2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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