Seroatlas · Human Serome Atlas

ZCCHC12

Zinc finger CCHC domain-containing protein 12

Also known as: FLJ16123, PNMA7A, SIZN, SIZN1, ZCH12_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6PEW1
Gene: ZCCHC12
Ensembl: ENSG00000174460
Chromosome: X
Canonical length: 402 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nuclear bodies

OverviewNCBI Gene

This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

402 residues, UniProt reviewed canonical sequence.

>Q6PEW1|ZCCHC12
     1  MASIIARVGN SRRLNAPLPP WAHSMLRSLG RSLGPIMASM ADRNMKLFSG RVVPAQGEET
    61  FENWLTQVNG VLPDWNMSEE EKLKRLMKTL RGPAREVMRV LQATNPNLSV ADFLRAMKLV
   121  FGESESSVTA HGKFFNTLQA QGEKASLYVI RLEVQLQNAI QAGIIAEKDA NRTRLQQLLL
   181  GGELSRDLRL RLKDFLRMYA NEQERLPNFL ELIRMVREEE DWDDAFIKRK RPKRSESMVE
   241  RAVSPVAFQG SPPIVIGSAD CNVIEIDDTL DDSDEDVILV ESQDPPLPSW GAPPLRDRAR
   301  PQDEVLVIDS PHNSRAQFPS TSGGSGYKNN GPGEMRRARK RKHTIRCSYC GEEGHSKETC
   361  DNESDKAQVF ENLIITLQEL THTEMERSRV APGEYNDFSE PL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZCCHC12 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: 258 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 258 nTPM
hypothalamus: 150 nTPM
smooth muscle: 132 nTPM
endometrium: 93 nTPM
cerebellum: 63 nTPM
basal ganglia: 40 nTPM

Single-cell type

smooth muscle cells: 349 nCPM
epididymal efferent duct absorptive cells: 126 nCPM
pituicytes/fscs: 55 nCPM
other brain neurons: 54 nCPM
oocytes: 32 nCPM
epididymal efferent duct ciliated cells: 16 nCPM

Immune cell

naive CD8 T-cell: 1.2 nTPM
memory B-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

hypothalamus: 631 nTPM
midbrain: 105 nTPM
pons: 82 nTPM
amygdala: 80 nTPM
basal ganglia: 79 nTPM
cerebral cortex: 68 nTPM

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): 1.11
gnomAD pLI: 0.05
gnomAD missense Z: 0.68
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ZCCHC12 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 ZCCHC12 as an antibody target. Whether an autoantibody or antibody against ZCCHC12 could matter depends on whether native ZCCHC12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZCCHC12 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 ZCCHC12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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