Seroatlas · Human Serome Atlas

ZBTB42

Zinc finger and BTB domain-containing protein 42

Also known as: ZBT42_HUMAN, ZNF925

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

Protein identityUniProt · HPA

UniProt accession: B2RXF5
Gene: ZBTB42
Ensembl: ENSG00000179627
Chromosome: 14
Canonical length: 422 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]

Canonical amino-acid sequenceUniProt

422 residues, UniProt reviewed canonical sequence.

>B2RXF5|ZBTB42
     1  MEFPEHGGRL LGRLRQQREL GFLCDCTVLV GDARFPAHRA VLAACSVYFH LFYRDRPAGS
    61  RDTVRLNGDI VTAPAFGRLL DFMYEGRLDL RSLPVEDVLA AASYLHMYDI VKVCKGRLQE
   121  KDRSLDPGNP APGAEPAQPP CPWPVWTADL CPAARKAKLP PFGVKAALPP RASGPPPCQV
   181  PEESDQALDL SLKSGPRQER VHPPCVLQTP LCSQRQPGAQ PLVKDERDSL SEQEESSSSR
   241  SPHSPPKPPP VPAAKGLVVG LQPLPLSGEG SRELELGAGR LASEDELGPG GPLCICPLCS
   301  KLFPSSHVLQ LHLSAHFRER DSTRARLSPD GVAPTCPLCG KTFSCTYTLK RHERTHSGEK
   361  PYTCVQCGKS FQYSHNLSRH TVVHTREKPH ACRWCERRFT QSGDLYRHVR KFHCGLVKSL
   421  LV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZBTB42 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: 12 nTPM

Expression across tissuesHPA

Tissue

pancreas: 12 nTPM
stomach: 6.5 nTPM
skeletal muscle: 6.4 nTPM
salivary gland: 6.3 nTPM
prostate: 6.2 nTPM
liver: 5.5 nTPM

Single-cell type

fallopian tube ciliated cells: 18 nCPM
alveolar cells type 2: 15 nCPM
late primary spermatocytes: 14 nCPM
respiratory deuterosomal cells: 14 nCPM
parietal cells: 12 nCPM
esophageal apical cells: 12 nCPM

Immune cell

eosinophil: 5.4 nTPM
MAIT T-cell: 0.5 nTPM
memory B-cell: 0.4 nTPM
memory CD4 T-cell: 0.4 nTPM
naive B-cell: 0.4 nTPM
naive CD8 T-cell: 0.4 nTPM

Brain region

medulla oblongata: 3.4 nTPM
choroid plexus: 2.7 nTPM
midbrain: 2.4 nTPM
spinal cord: 2.4 nTPM
pons: 2.2 nTPM
hypothalamus: 2.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZBTB42.

Disease | AllUniProt

Conditions ZBTB42 is implicated in, by any mechanism.

Lethal congenital contracture syndrome 6 (LCCS6) MIM:616248

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): 0.6
gnomAD pLI: 0.34
gnomAD missense Z: 1.74
DepMap mean gene effect: -0.03
DepMap dependency class: none

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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZBTB42 as an antibody target. Whether an autoantibody or antibody against ZBTB42 could matter depends on whether native ZBTB42 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZBTB42 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 ZBTB42 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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