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Aliases for CNBP Gene

Aliases for CNBP Gene

  • CCHC-Type Zinc Finger Nucleic Acid Binding Protein 2 3
  • CCHC-Type Zinc Finger, Nucleic Acid Binding Protein 2 3 5
  • Zinc Finger Protein 9 (A Cellular Retroviral Nucleic Acid Binding Protein) 2 3
  • Zinc Finger Protein 9 2 4
  • RNF163 3 4
  • ZNF9 3 4
  • Sterol Regulatory Element-Binding Protein 3
  • Cellular Nucleic Acid 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 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 2008]

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. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ZCCHC13.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNBP Gene

Genomics for CNBP Gene

Regulatory Elements for CNBP Gene

Enhancers for CNBP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CNBP on UCSC Golden Path with GeneCards custom track

Promoters for CNBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNBP on UCSC Golden Path with GeneCards custom track

Genomic Location for CNBP Gene

Chromosome:
3
Start:
129,167,815 bp from pter
End:
129,183,967 bp from pter
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

Proteomics data for CNBP Gene at MOPED

Post-translational modifications for CNBP Gene

  • Arginine methylation by PRMT1 in the Arg/Gly-rich region impedes RNA binding.
  • Ubiquitination at Lys 8, Lys 103, Lys 130, and Lys 152
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNBP Gene

Domains & Families for CNBP Gene

Gene Families for CNBP Gene

Protein Domains for CNBP Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P62633

UniProtKB/Swiss-Prot:

CNBP_HUMAN :
  • Contains 7 CCHC-type zinc fingers.
Similarity:
  • Contains 7 CCHC-type zinc fingers.
genes like me logo Genes that share domains with CNBP: view

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.

Gene Ontology (GO) - Molecular Function for CNBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003697 single-stranded DNA binding IEA --
GO:0005515 protein binding IPI 24726729
GO:0008270 zinc ion 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

miRNA for CNBP Gene

miRTarBase miRNAs that target CNBP

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for CNBP Gene COMPARTMENTS Subcellular localization image for CNBP gene
Compartment Confidence
cytosol 5
nucleus 5
endoplasmic reticulum 4
extracellular 2

No data available for Gene Ontology (GO) - Cellular Components for CNBP Gene

Pathways & Interactions for CNBP Gene

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:0006695 cholesterol biosynthetic process TAS 2562787
GO:0008284 positive regulation of cell proliferation IEA,ISS --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA,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

Unigene Clusters for CNBP Gene

CCHC-type zinc finger, nucleic acid binding protein:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CNBP

Expression for CNBP Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for CNBP Gene



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.
genes like me logo Genes that share expression patterns with CNBP: view

Protein tissue co-expression partners for CNBP Gene

Primer Products

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
dog
(Canis familiaris)
Mammalia CNBP 35
  • 96.61 (n)
  • 100 (a)
CNBP 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cnbp 35
  • 93.73 (n)
  • 98.24 (a)
Cnbp 16
Cnbp 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNBP 35
  • 99.25 (n)
  • 100 (a)
CNBP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnbp 35
  • 95.48 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CNBP 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNBP 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
chicken
(Gallus gallus)
Aves CNBP 35
  • 90.64 (n)
  • 97.66 (a)
CNBP 36
  • 98 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6124 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.985 35
zebrafish
(Danio rerio)
Actinopterygii cnbpb 35
  • 69.79 (n)
  • 73.75 (a)
wufe36b09 35
cnbpa 36
  • 74 (a)
ManyToMany
cnbpb 36
  • 78 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10040 35
fruit fly
(Drosophila melanogaster)
Insecta CG3800 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K08D12.3 36
  • 36 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR646W 35
  • 51.8 (n)
  • 43.24 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02805g 35
  • 54.28 (n)
  • 52.21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GIS2 35
  • 55.56 (n)
  • 48.25 (a)
GIS2 36
  • 37 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU05800 35
  • 48.21 (n)
  • 38.39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10180 36
  • 31 (a)
OneToMany
Species with no ortholog for CNBP:
  • 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)

Paralogs for CNBP Gene

Paralogs for CNBP Gene

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

genes like me logo Genes that share paralogs with CNBP: view

Variants for CNBP Gene

Sequence variations from dbSNP and Humsavar for CNBP Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1133046 -- 129,167,850(+) TTAAC(A/C/G/T)CAATA utr-variant-3-prime
rs4303883 -- 129,171,507(-) CCAGA(A/C/T)ATTTG reference, synonymous-codon
rs1384313 -- 129,177,231(-) AGTAA(A/G)TGGTG intron-variant
rs9819322 -- 129,176,202(+) TGCCT(A/G)TGACT intron-variant
rs6763144 -- 129,172,656(+) ggcag(A/G)cagac intron-variant

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

Variant ID Type Subtype PubMed ID
dgv5251n71 CNV Loss 21882294

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)

Relevant External Links for CNBP Gene

Human Gene Mutation Database (HGMD)
CNBP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNBP Gene

Disorders for CNBP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
myotonic dystrophy 2
  • myotonic dystrophy type 2
myotonic dystrophy
  • curschmann-batten-steinert syndrome
myotonic dystrophy 1
  • major affective disorder 1
myotonic disease
  • myotonic disorders
tinea unguium
  • cellulitis and abscess
- 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.

Relevant External Links for CNBP

Genetic Association Database (GAD)
CNBP
Human Genome Epidemiology (HuGE) Navigator
CNBP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNBP
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 C.L. … Ranum L.P. (Science 2001) 2 3 4 23 67
  2. Mapping of the gene for CNBP, a finger protein, to human chromosome 3q13.3-q24. (PMID: 2249857) Lusis A.J. … Sparkes R.S. (Genomics 1990) 2 3 23
  3. 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. (J. Neurol. Sci. 2008) 3 23
  4. Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2. (PMID: 17068784) Toth C. … Brownell K. (Muscle Nerve 2007) 3 23
  5. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). (PMID: 16376058) Botta A. … Loreni F. (Biochim. Biophys. Acta 2006) 3 23

Products for CNBP Gene

Sources for CNBP Gene

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