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 ... See more...

Aliases for CNBP Gene

Aliases for CNBP Gene

  • CCHC-Type Zinc Finger Nucleic Acid Binding Protein 2 3 5
  • Zinc Finger Protein 9 (A Cellular Retroviral Nucleic Acid Binding Protein) 2 3
  • Cellular Nucleic Acid-Binding Protein 3 4
  • Zinc Finger Protein 9 2 4
  • RNF163 3 4
  • ZNF9 3 4
  • CCHC-Type Zinc Finger, Nucleic Acid Binding Protein 2
  • Sterol Regulatory Element-Binding Protein 3
  • Erythroid Differentiation-Related 3
  • Zinc Finger Protein 273 3
  • ZCCHC22 3
  • CNBP1 3
  • PROMM 3
  • DM2 3

External Ids for CNBP Gene

Previous HGNC Symbols for CNBP Gene

  • DM2
  • ZNF9

Previous GeneCards Identifiers for CNBP Gene

  • GC03M130372
  • GC03M128886
  • GC03M126273

Summaries for CNBP Gene

Entrez Gene Summary for CNBP 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]

GeneCards Summary for CNBP Gene

CNBP (CCHC-Type Zinc Finger Nucleic Acid Binding Protein) is a Protein Coding gene. Diseases associated with CNBP include Myotonic Dystrophy 2 and Myotonic Dystrophy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is ZCCHC13.

UniProtKB/Swiss-Prot Summary for CNBP Gene

  • Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.

Gene Wiki entry for CNBP Gene

Additional gene information for CNBP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNBP Gene

Genomics for CNBP Gene

GeneHancer (GH) Regulatory Elements for CNBP Gene

Promoters and enhancers for CNBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNBP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNBP

Top Transcription factor binding sites by QIAGEN in the CNBP gene promoter:
  • CREB
  • Ik-2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • RREB-1
  • USF-1
  • USF1

Genomic Locations for CNBP Gene

Genomic Locations for CNBP Gene
chr3:129,167,815-129,183,967
(GRCh38/hg38)
Size:
16,153 bases
Orientation:
Minus strand
chr3:128,886,658-128,902,810
(GRCh37/hg19)
Size:
16,153 bases
Orientation:
Minus strand

Genomic View for CNBP Gene

Genes around CNBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNBP Gene

Proteins for CNBP Gene

  • Protein details for CNBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62633-CNBP_HUMAN
    Recommended name:
    Cellular nucleic acid-binding protein
    Protein Accession:
    P62633
    Secondary Accessions:
    • A8K7V4
    • B2RAV9
    • B4DP17
    • D3DNB9
    • D3DNC0
    • D3DNC1
    • E9PDR7
    • P20694
    • Q4JGY0
    • Q4JGY1
    • Q5QJR0
    • Q5U0E9
    • Q6PJI7
    • Q96NV3

    Protein attributes for CNBP Gene

    Size:
    177 amino acids
    Molecular mass:
    19463 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CNBP Gene

neXtProt entry for CNBP Gene

Post-translational modifications for CNBP Gene

  • Arginine methylation by PRMT1 in the Arg/Gly-rich region impedes RNA binding.
  • Ubiquitination at Lys8, Lys103, Lys130, and Lys152
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNBP Gene

Domains & Families for CNBP Gene

Gene Families for CNBP Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CNBP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNBP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61146, highly similar to Cellular nucleic acid-binding protein (B4DP17_HUMAN)
  • Zinc finger protein 9 (CNBP_HUMAN)
  • Cellular nucleic acid binding protein beta variant 1 (Q4JGY1_HUMAN)
  • Zinc finger protein 9 (A cellular retroviral nucleic acid binding protein) (Q5U0E9_HUMAN)
genes like me logo Genes that share domains with CNBP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CNBP Gene

Function for CNBP Gene

Molecular function for CNBP Gene

UniProtKB/Swiss-Prot Function:
Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.

Phenotypes From GWAS Catalog for CNBP Gene

Gene Ontology (GO) - Molecular Function for CNBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 23774591
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 23774591
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with CNBP: view
genes like me logo Genes that share phenotypes with CNBP: view

Human Phenotype Ontology for CNBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNBP Gene

MGI Knock Outs for CNBP:
  • Cnbp Cnbp<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CNBP Gene

miRTarBase miRNAs that target CNBP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNBP Gene

Localization for CNBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNBP Gene

Cytoplasm. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNBP gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus ISS --
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum ISS --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with CNBP: view

Pathways & Interactions for CNBP Gene

PathCards logo

SuperPathways for CNBP Gene

No Data Available

SIGNOR curated interactions for CNBP Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CNBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 23774591
GO:0006355 regulation of transcription, DNA-templated TAS 2562787
GO:0006695 cholesterol biosynthetic process TAS 2562787
GO:0008284 positive regulation of cell proliferation ISS --
GO:0045893 positive regulation of transcription, DNA-templated ISS --
genes like me logo Genes that share ontologies with CNBP: view

No data available for Pathways by source for CNBP Gene

Drugs & Compounds for CNBP Gene

(5) Drugs for CNBP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CNBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNBP: view

Transcripts for CNBP Gene

mRNA/cDNA for CNBP Gene

6 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNBP Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ·
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - -
SP8: - - - - -
SP9: - - - -
SP10: - - - -
SP11: - - - -
SP12: - -
SP13: - - -
SP14: - - - - - -
SP15: - -
SP16:
SP17: - -

ExUns: 7h · 7i
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for CNBP Gene

GeneLoc Exon Structure for
CNBP

Expression for CNBP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNBP Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for CNBP Gene

This gene is overexpressed in Tlymphocyte (12.4), Urine (11.0), and Peripheral blood mononuclear cells (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNBP Gene



Protein tissue co-expression partners for CNBP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNBP

SOURCE GeneReport for Unigene cluster for CNBP Gene:

Hs.518249

mRNA Expression by UniProt/SwissProt for CNBP Gene:

P62633-CNBP_HUMAN
Tissue specificity: Present in all tissues examined.

Evidence on tissue expression from TISSUES for CNBP Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.7)
  • Muscle(4.2)
  • Heart(3.7)
  • Intestine(3.6)
  • Eye(3.5)
  • Skin(3.4)
  • Stomach(3.1)
  • Blood(3)
  • Kidney(2.7)
  • Adrenal gland(2.3)
  • Pancreas(2.3)
  • Lymph node(2.2)
  • Spleen(2.2)
  • Thyroid gland(2.2)
  • Gall bladder(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • neck
  • pituitary gland
  • scalp
Thorax:
  • breast
  • heart
  • heart valve
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CNBP: view

Orthologs for CNBP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNBP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CNBP 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNBP 31 30
  • 99.25 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNBP 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CNBP 31 30
  • 96.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnbp 30
  • 95.48 (n)
mouse
(Mus musculus)
Mammalia Cnbp 17 31 30
  • 93.73 (n)
chicken
(Gallus gallus)
Aves CNBP 31 30
  • 90.64 (n)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6124 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.985 30
zebrafish
(Danio rerio)
Actinopterygii cnbpa 31
  • 74 (a)
ManyToMany
cnbpb 31 30
  • 69.79 (n)
ManyToMany
wufe36b09 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10040 30
fruit fly
(Drosophila melanogaster)
Insecta CG3800 31
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K08D12.3 31
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GIS2 31 30
  • 55.56 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02805g 30
  • 54.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR646W 30
  • 51.8 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05800 30
  • 48.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10180 31
  • 31 (a)
OneToMany
Species where no ortholog for CNBP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNBP Gene

ENSEMBL:
Gene Tree for CNBP (if available)
TreeFam:
Gene Tree for CNBP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNBP: view image

Paralogs for CNBP Gene

Paralogs for CNBP Gene

(2) SIMAP similar genes for CNBP Gene using alignment to 3 proteins:

  • CNBP_HUMAN
  • B4DP17_HUMAN
  • D6RAT4_HUMAN
genes like me logo Genes that share paralogs with CNBP: view

Variants for CNBP Gene

Additional dbSNP identifiers (rs#s) for CNBP Gene

Structural Variations from Database of Genomic Variants (DGV) for CNBP Gene

Variant ID Type Subtype PubMed ID
nsv591650 CNV loss 21841781

Variation tolerance for CNBP Gene

Residual Variation Intolerance Score: 57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNBP Gene

Human Gene Mutation Database (HGMD)
CNBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNBP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNBP Gene

Disorders for CNBP Gene

MalaCards: The human disease database

(30) MalaCards diseases for CNBP Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy 2
  • dm2
myotonic dystrophy
  • myotonic dystrophy 1
myotonia congenita
  • thomsen disease
myotonia
maturity-onset diabetes of the young, type 1
  • mody1
- elite association - COSMIC cancer census association via MalaCards
Search CNBP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNBP_HUMAN
  • Dystrophia myotonica 2 (DM2) [MIM:602668]: A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. Note=The disease is caused by mutations affecting the gene represented in this entry. The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene.

Additional Disease Information for CNBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CNBP: view

No data available for Genatlas for CNBP Gene

Publications for CNBP Gene

  1. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. (PMID: 11486088) Liquori CL … Ranum LP (Science (New York, N.Y.) 2001) 2 3 4 23 54
  2. Organization of the gene encoding cellular nucleic acid-binding protein. (PMID: 7590281) Flink IL … Morkin E (Gene 1995) 3 4 23 54
  3. Mapping of the gene for CNBP, a finger protein, to human chromosome 3q13.3-q24. (PMID: 2249857) Lusis AJ … Sparkes RS (Genomics 1990) 2 3 23 54
  4. Arginine methylation of the cellular nucleic acid binding protein does not affect its subcellular localization but impedes RNA binding. (PMID: 24726729) Wei HM … Li C (FEBS letters 2014) 3 4 54
  5. Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion. (PMID: 18804219) Lucchiari S … Meola G (Journal of the neurological sciences 2008) 3 23 54

Products for CNBP Gene