Seroatlas · Human Serome Atlas

BNC2

Zinc finger protein basonuclin-2

Also known as: BNC2_HUMAN, BSN2, FLJ20043

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

Protein identityUniProt · HPA

UniProt accession: Q6ZN30
Gene: BNC2
Ensembl: ENSG00000173068
Chromosome: 9
Canonical length: 1099 aa
Protein class: Disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoli fibrillar center,Nuclear bodies

OverviewNCBI Gene

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

1099 residues, UniProt reviewed canonical sequence.

>Q6ZN30|BNC2
     1  MAHLGPTPPP HSLNYKSEDR LSEQDWPAYF KVPCCGVDTS QIESEEAEVD VRERETQRDR
    61  EPKRARDLTL RDSCTDNSMQ FGTRTTTAEP GFMGTWQNAD TNLLFRMSQQ AIRCTLVNCT
   121  CECFQPGKIN LRTCDQCKHG WVAHALDKLS TQHLYHPTQV EIVQSNVVFD ISSLMLYGTQ
   181  AVPVRLKILL DRLFSVLKQE EVLHILHGLG WTLRDYVRGY ILQDAAGKVL DRWAIMSREE
   241  EIITLQQFLR FGETKSIVEL MAIQEKEGQA VAVPSSKTDS DIRTFIESNN RTRSPSLLAH
   301  LENSNPSSIH HFENIPNSLA FLLPFQYINP VSAPLLGLPP NGLLLEQPGL RLREPSLSTQ
   361  NEYNESSESE VSPTPYKNDQ TPNRNALTSI TNVEPKTEPA CVSPIQNSAP VSDLTKTEHP
   421  KSSFRIHRMR RMGSASRKGR VFCNACGKTF YDKGTLKIHY NAVHLKIKHR CTIEGCNMVF
   481  SSLRSRNRHS ANPNPRLHMP MLRNNRDKDL IRATSGAATP VIASTKSNLA LTSPGRPPMG
   541  FTTPPLDPVL QNPLPSQLVF SGLKTVQPVP PFYRSLLTPG EMVSPPTSLP TSPIIPTSGT
   601  IEQHPPPPSE PVVPAVMMAT HEPSADLAPK KKPRKSSMPV KIEKEIIDTA DEFDDEDDDP
   661  NDGGAVVNDM SHDNHCHSQE EMSPGMSVKD FSKHNRTRCI SRTEIRRADS MTSEDQEPER
   721  DYENESESSE PKLGEESMEG DEHIHSEVSE KVLMNSERPD ENHSEPSHQD VIKVKEEFTD
   781  PTYDMFYMSQ YGLYNGGGAS MAALHESFTS SLNYGSPQKF SPEGDLCSSP DPKICYVCKK
   841  SFKSSYSVKL HYRNVHLKEM HVCTVAGCNA AFPSRRSRDR HSANINLHRK LLTKELDDMG
   901  LDSSQPSLSK DLRDEFLVKI YGAQHPMGLD VREDASSPAG TEDSHLNGYG RGMAEDYMVL
   961  DLSTTSSLQS SSSIHSSRES DAGSDEGILL DDIDGASDSG ESAHKAEAPA LPGSLGAEVS
  1021  GSLMFSSLSG SNGGIMCNIC HKMYSNKGTL RVHYKTVHLR EMHKCKVPGC NMMFSSVRSR
  1081  NRHSQNPNLH KNIPFTSVD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BNC2 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): 0.59
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

smooth muscle: 33 nTPM
endometrium: 29 nTPM
ovary: 28 nTPM
fallopian tube: 18 nTPM
cervix: 13 nTPM
colon: 9.3 nTPM

Single-cell type

mesothelial cells: 1,826 nCPM
proximal tubule cells: 1,191 nCPM
epicardial cells: 1,071 nCPM
leydig cells: 1,049 nCPM
fibro-adipogenic progenitors: 1,048 nCPM
ovarian stromal cells: 1,039 nCPM

Immune cell

gdT-cell: 2.5 nTPM
total PBMC: 1.5 nTPM
NK-cell: 0.5 nTPM
naive CD8 T-cell: 0.3 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

choroid plexus: 22 nTPM
midbrain: 17 nTPM
white matter: 16 nTPM
medulla oblongata: 16 nTPM
pons: 15 nTPM
thalamus: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BNC2.

Disease | AllUniProt

Conditions BNC2 is implicated in, by any mechanism.

Lower urinary tract obstruction, congenital (LUTO) MIM:618612

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 342 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lower Urinary Tract Obstruction
Lower urinary tract obstruction, congenital

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): 0.34
gnomAD pLI: 0.93
gnomAD missense Z: 0.36
DepMap mean gene effect: 0.08
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 BNC2 as an antibody target. Whether an autoantibody or antibody against BNC2 could matter depends on whether native BNC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BNC2 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 BNC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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