Seroatlas · Human Serome Atlas

NBEAL2

Neurobeachin-like protein 2

Also known as: KIAA0540, NBEL2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q6ZNJ1
Gene
NBEAL2
Ensembl
ENSG00000160796
Chromosome
3
Canonical length
2754 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

2754 residues, UniProt reviewed canonical sequence.

>Q6ZNJ1|NBEAL2
     1  MAASERLYEL WLLYYAQKDL GYLQQWLKAF VGAFKKSISL SSLEPRRPEE AGAEVPLLPL
    61  DELHVLAEQL HQADLEQALL LLKLFIILCR NLENIEAGRG QVLVPRVLAL LTKLVAELKG
   121  CPPPQGRGTQ LENVALHALL LCEGLFDPYQ TWRRQRSGEV ISSKEKSKYK FPPAALPQEF
   181  SAFFQESLQN ADHLPPILLL RLIHLFCAVL AGGKENGQMA VSDGSVKGLL SVVRGWSRGP
   241  APDPCLVPLA LEALVGAVHV LHASRAPPRG PELRALLESY FHVLNADWPA GLSSGPEEAL
   301  VTLRVSMLDA IPMMLACEDR PVLQATFLSN NCFEHLTRLI QNSKLYLQSR APPEGDSDLA
   361  TRLLTEPDVQ KVLDQDTDAI AVHVVRVLTC IMSDSPSAKE VFKERIGYPH LQEVLQSHGP
   421  PTHRLLQELL NMAVEGDHSM CPPPPIRNEQ PVLVLAQWLP SLPTAELRLF LAQRLRWLCD
   481  SCPASRATCV QAGLVGCLLE TLSTGLALEA RCQEQLLALL QALGRVSIRP MELRHLLRPR
   541  PGLDSEPGGA EAGKARHAGA VIRTLSGMAR HQGPARALRY FDLTPSMAGI MVPPVQRWPG
   601  PGFTFHAWLC LHPMDTAPTP APTRPLQRKQ LYSFFTSSGS GFEAFFTAAG TLVVAVCTRK
   661  EYLTMSLPEV SFADSAWHCV AIVHVPGRRP FSQNLVHVYK DGHLVKTAPL RCPSLSEPFS
   721  SCCIGSAGYR TTTTTTGLPT PPVPATLAYT HPALTRSQSV PASTGLGWGS GLVAPLQEGS
   781  IDSTLAGTQD TRWGSPTSLE GELGAVAIFH EALQATALRT LCTLGPNETA PFKPEGELHE
   841  LSTRLLLHYS PQACKNNICL DLSPSHGLDG RLTGHRVETW DVKDVVNCVG GMGALLPLLE
   901  RVAAQPKEAE AGPAETHDLV GPELTSGHNT QGLVLPLGKS SEERMERNAV AAFLLMLRNF
   961  LQGHMVNQES LVQCQGPAII GALLRKVPSW AMDMNVLMSA QLLMEQVAAE GSGPLLYLLY
  1021  QHLLFNFHLW TLSDFAVRLG HIQYMSSIVR EHRQKLRKKY GVQFILDALR THYSPQRERP
  1081  LAADDLRTVQ TSLLGLAREF LVRSLSADDV QVTQTMLSFL AATGDDGQAV GALDLLLALL
  1141  HGSLVQESLA VFLLEPGNLE VLLALLVRPG SLPLLPDRVC KILRRLQQNE RLPERSRQRL
  1201  RLRECGLQGL VACLPEGTVS PQLCQGLYKL FLGADCLNLS DLLAVVQLSL QADLSVRLDI
  1261  CRQLFHLIYG QPDVVRLLAR QAGWQDVLTR LYVLEAATAG SPPPSSPESP TSPKPAPPKP
  1321  PTESPAEPSD VFLPSEAPCP DPDGFYHALS PFCTPFDLGL ERSSVGSGNT AGGGGSSGTL
  1381  TPASQPGTPS PLDGPRPFPA APGRHSSSLS NVLEDGSLPE PTISGDDTSN TSNPQQTSEE
  1441  ELCNLLTNVL FSVTWRGVEG SDEAAWRERG QVFSVLTQLG ASATLVRPPD CIKRSLLEMM
  1501  LESALTDIKE APVGVLASLT QQALWLLRLL QDFLCAEGHG NQELWSEKLF EGVCSLLDRL
  1561  GAWPHLANGT ADLREMAQIG LRLVLGYILL EDPQLHAQAY VRLHMLLQTA VPARREEACY
  1621  VLSKLEAALG RVLNTSSLES ATDEAGSPLA AAAAAAAAER CSWLVPLVRT LLDRAYEPLG
  1681  LQWGLPSLPP TNGSPTFFED FQAFCATPEW RHFIDKQVQP TMSQFEMDTY AKSHDLMSGF
  1741  WNACYDMLMS SGQRRQWERA QSRRAFQELV LEPAQRRARL EGLRYTAVLK QQATQHSMAL
  1801  LHWGALWRQL ASPCGAWALR DTPIPRWKLS SAETYSRMRL KLVPNHHFDP HLEASALRDN
  1861  LGEVPLTPTE EASLPLAVTK EAKVSTPPEL LQEDQLGEDE LAELETPMEA AELDEQREKL
  1921  VLSAECQLVT VVAVVPGLLE VTTQNVYFYD GSTERVETEE GIGYDFRRPL AQLREVHLRR
  1981  FNLRRSALEL FFIDQANYFL NFPCKVGTTP VSSPSQTPRP QPGPIPPHTQ VRNQVYSWLL
  2041  RLRPPSQGYL SSRSPQEMLR ASGLTQKWVQ REISNFEYLM QLNTIAGRTY NDLSQYPVFP
  2101  WVLQDYVSPT LDLSNPAVFR DLSKPIGVVN PKHAQLVREK YESFEDPAGT IDKFHYGTHY
  2161  SNAAGVMHYL IRVEPFTSLH VQLQSGRFDC SDRQFHSVAA AWQARLESPA DVKELIPEFF
  2221  YFPDFLENQN GFDLGCLQLT NEKVGDVVLP PWASSPEDFI QQHRQALESE YVSAHLHEWI
  2281  DLIFGYKQRG PAAEEALNVF YYCTYEGAVD LDHVTDERER KALEGIISNF GQTPCQLLKE
  2341  PHPTRLSAEE AAHRLARLDT NSPSIFQHLD ELKAFFAEVV SDGVPLVLAL VPHRQPHSFI
  2401  TQGSPDLLVT VSASGLLGTH SWLPYDRNIS NYFSFSKDPT MGSHKTQRLL SGPWVPGSGV
  2461  SGQALAVAPD GKLLFSGGHW DGSLRVTALP RGKLLSQLSC HLDVVTCLAL DTCGIYLISG
  2521  SRDTTCMVWR LLHQGGLSVG LAPKPVQVLY GHGAAVSCVA ISTELDMAVS GSEDGTVIIH
  2581  TVRRGQFVAA LRPLGATFPG PIFHLALGSE GQIVVQSSAW ERPGAQVTYS LHLYSVNGKL
  2641  RASLPLAEQP TALTVTEDFV LLGTAQCALH ILQLNTLLPA APPLPMKVAI RSVAVTKERS
  2701  HVLVGLEDGK LIVVVAGQPS EVRSSQFARK LWRSSRRISQ VSSGETEYNP TEAR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBEAL2 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
Highest tissue expression
99 nTPM

Expression across tissuesHPA

Tissue

  • esophagus: 99 nTPM
  • bone marrow: 87 nTPM
  • skin: 82 nTPM
  • spleen: 67 nTPM
  • vagina: 54 nTPM
  • lung: 52 nTPM

Single-cell type

  • neutrophils: 243 nCPM
  • alveolar cells type 1: 211 nCPM
  • esophageal apical cells: 142 nCPM
  • neutrophil progenitors: 117 nCPM
  • renal collecting duct principal cells: 95 nCPM
  • esophageal suprabasal cells: 94 nCPM

Immune cell

  • neutrophil: 4.4 nTPM
  • classical monocyte: 0.6 nTPM
  • intermediate monocyte: 0.6 nTPM
  • gdT-cell: 0.5 nTPM
  • memory CD8 T-cell: 0.5 nTPM
  • eosinophil: 0.4 nTPM

Brain region

  • cerebral cortex: 12 nTPM
  • thalamus: 9.4 nTPM
  • pons: 8.9 nTPM
  • choroid plexus: 8.6 nTPM
  • hypothalamus: 8.6 nTPM
  • medulla oblongata: 8.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NBEAL2.

Disease | AllUniProt

Conditions NBEAL2 is implicated in, by any mechanism.

Disease | GeneticClinVar

72 pathogenic / likely-pathogenic of 953 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.32
gnomAD pLI
0.06
gnomAD missense Z
2.39
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NBEAL2 as an antibody target. Whether an autoantibody or antibody against NBEAL2 could matter depends on whether native NBEAL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBEAL2 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 NBEAL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NBEAL2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...