CNBP
CCHC-type zinc finger nucleic acid binding protein
Also known as: CNBP_HUMAN, CNBP1, DM2, RNF163, ZCCHC22, ZNF9
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P62633
- Gene
- CNBP
- Ensembl
- ENSG00000169714
- Chromosome
- 3
- Canonical length
- 177 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
177 residues, UniProt reviewed canonical sequence.
>P62633|CNBP
1 MSSNECFKCG RSGHWARECP TGGGRGRGMR SRGRGGFTSD RGFQFVSSSL PDICYRCGES
61 GHLAKDCDLQ EDACYNCGRG GHIAKDCKEP KREREQCCYN CGKPGHLARD CDHADEQKCY
121 SCGEFGHIQK DCTKVKCYRC GETGHVAINC SKTSEVNCYR CGESGHLARE CTIEATALocalizationUniProt · AlphaFold · HPA
Whether an antibody against CNBP 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
- 1,164 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 1,164 nTPM
- tongue: 746 nTPM
- heart muscle: 456 nTPM
- liver: 405 nTPM
- blood vessel: 385 nTPM
- ovary: 357 nTPM
Single-cell type
- esophageal apical cells: 587 nCPM
- esophageal suprabasal cells: 587 nCPM
- esophageal basal cells: 545 nCPM
- suprabasal keratinocytes: 524 nCPM
- oocytes: 497 nCPM
- decidual stromal cells: 476 nCPM
Immune cell
- total PBMC: 2,030 nTPM
- neutrophil: 1,108 nTPM
- basophil: 1,080 nTPM
- eosinophil: 933 nTPM
- classical monocyte: 812 nTPM
- T-reg: 706 nTPM
Brain region
- white matter: 202 nTPM
- cerebellum: 180 nTPM
- spinal cord: 176 nTPM
- medulla oblongata: 156 nTPM
- hypothalamus: 154 nTPM
- thalamus: 150 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CNBP.
Disease | AllUniProt
Conditions CNBP is implicated in, by any mechanism.
- Dystrophia myotonica 2 (DM2) MIM:602668
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 29 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Myotonic dystrophy type 2
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)
- 0.3
- gnomAD pLI
- 0.96
- gnomAD missense Z
- 2.38
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cholesterol homeostasis
- negative regulation of transcription by RNA polymerase II
- positive regulation of cell population proliferation
- positive regulation of cytoplasmic translation
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
- G-quadruplex DNA formation
Molecular functions
- G-quadruplex DNA binding
- mRNA binding
- RNA binding
- single-stranded RNA binding
- translation regulator activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CNBP 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 CNBP as an antibody target. Whether an autoantibody or antibody against CNBP could matter depends on whether native CNBP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CNBP 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 CNBP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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