Seroatlas · Human Serome Atlas

ZBTB18

Zinc finger and BTB domain-containing protein 18

Also known as: C2H2-171, RP58, TAZ-1, ZBT18_HUMAN, ZNF238

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

Protein identityUniProt · HPA

UniProt accession: Q99592
Gene: ZBTB18
Ensembl: ENSG00000179456
Chromosome: 1
Canonical length: 522 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

522 residues, UniProt reviewed canonical sequence.

>Q99592|ZBTB18
     1  MEFPDHSRHL LQCLSEQRHQ GFLCDCTVLV GDAQFRAHRA VLASCSMYFH LFYKDQLDKR
    61  DIVHLNSDIV TAPAFALLLE FMYEGKLQFK DLPIEDVLAA ASYLHMYDIV KVCKKKLKEK
   121  ATTEADSTKK EEDASSCSDK VESLSDGSSH IAGDLPSDED EGEDEKLNIL PSKRDLAAEP
   181  GNMWMRLPSD SAGIPQAGGE AEPHATAAGK TVASPCSSTE SLSQRSVTSV RDSADVDCVL
   241  DLSVKSSLSG VENLNSSYFS SQDVLRSNLV QVKVEKEASC DESDVGTNDY DMEHSTVKES
   301  VSTNNRVQYE PAHLAPLRED SVLRELDRED KASDDEMMTP ESERVQVEGG MESSLLPYVS
   361  NILSPAGQIF MCPLCNKVFP SPHILQIHLS THFREQDGIR SKPAADVNVP TCSLCGKTFS
   421  CMYTLKRHER THSGEKPYTC TQCGKSFQYS HNLSRHAVVH TREKPHACKW CERRFTQSGD
   481  LYRHIRKFHC ELVNSLSVKS EALSLPTVRD WTLEDSSQEL WK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZBTB18 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): 0.53
Highest tissue expression: 265 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 265 nTPM
skeletal muscle: 90 nTPM
hippocampal formation: 56 nTPM
cerebral cortex: 53 nTPM
retina: 48 nTPM
thymus: 45 nTPM

Single-cell type

pdcs: 161 nCPM
brain excitatory neurons: 156 nCPM
neutrophils: 139 nCPM
bergmann glia: 65 nCPM
hepatocytes: 61 nCPM
müller glia: 60 nCPM

Immune cell

neutrophil: 3.4 nTPM
plasmacytoid DC: 1.6 nTPM
eosinophil: 1.4 nTPM
naive B-cell: 1 nTPM
non-classical monocyte: 0.7 nTPM
basophil: 0.6 nTPM

Brain region

cerebellum: 462 nTPM
hippocampal formation: 179 nTPM
cerebral cortex: 134 nTPM
basal ganglia: 121 nTPM
amygdala: 96 nTPM
white matter: 78 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZBTB18.

Disease | AllUniProt

Conditions ZBTB18 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 22 (MRD22) MIM:612337

Disease | GeneticClinVar

78 pathogenic / likely-pathogenic of 374 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 22
Inborn genetic diseases
Intellectual disability
ZBTB18-related disorder
Marfanoid habitus and intellectual disability

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): 0.18
gnomAD pLI: 1
gnomAD missense Z: 3.43
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 ZBTB18 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 ZBTB18 as an antibody target. Whether an autoantibody or antibody against ZBTB18 could matter depends on whether native ZBTB18 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZBTB18 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 ZBTB18 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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