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Cttnbp2 cortactin binding protein 2 [ Mus musculus (house mouse) ]

Gene ID: 30785, updated on 11-Apr-2024

Summary

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Official Symbol
Cttnbp2provided by MGI
Official Full Name
cortactin binding protein 2provided by MGI
Primary source
MGI:MGI:1353467
See related
Ensembl:ENSMUSG00000000416 AllianceGenome:MGI:1353467
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ORF4; Cortbp2; mKIAA1758; 6430526E05; 3010022N24Rik; 4732477G22Rik; 9130022E09Rik
Summary
Predicted to enable SH3 domain binding activity and cytoskeletal regulatory protein binding activity. Predicted to be involved in regulation of modification of postsynaptic actin cytoskeleton. Predicted to act upstream of or within actin cytoskeleton organization. Located in glutamatergic synapse. Is active in postsynaptic actin cytoskeleton. Is expressed in brain; dorsal grey horn; glans of male genital tubercle; intestine smooth muscle circular layer; and limb. Orthologous to human CTTNBP2 (cortactin binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in frontal lobe adult (RPKM 16.8), cortex adult (RPKM 13.4) and 13 other tissues See more
Orthologs
human all
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Genomic context

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See Cttnbp2 in Genome Data Viewer
Location:
6 A2; 6 8.12 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (18366470..18515216, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (18366471..18515217, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene Cftr promoter region Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene STARR-seq mESC enhancer starr_15266 Neighboring gene cystic fibrosis transmembrane conductance regulator Neighboring gene 2'-5' oligoadenylate synthetase 1E pseudogene Neighboring gene STARR-seq mESC enhancer starr_15267 Neighboring gene predicted gene, 40356 Neighboring gene STARR-seq mESC enhancer starr_15268 Neighboring gene STARR-seq mESC enhancer starr_15271 Neighboring gene predicted gene, 23648 Neighboring gene STARR-seq mESC enhancer starr_15272 Neighboring gene predicted gene 5874

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. CTTNBP2 Controls Synaptic Expression of Zinc-Related Autism-Associated Proteins and Regulates Synapse Formation and Autism-like Behaviors. Shih PY, et al. Cell Rep, 2020 Jun 2. PMID 32492416
  2. Phase separation and zinc-induced transition modulate synaptic distribution and association of autism-linked CTTNBP2 and SHANK3. Shih PY, et al. Nat Commun, 2022 May 13. PMID 35562389, Free PMC Article
  3. Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms. Shih PY, et al. Acta Neuropathol Commun, 2020 Nov 9. PMID 33168105, Free PMC Article
  4. Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Cheung J, et al. Genomics, 2001 Nov. PMID 11707066
  5. Cortactin-binding protein 2 modulates the mobility of cortactin and regulates dendritic spine formation and maintenance. Chen YK, et al. J Neurosci, 2012 Jan 18. PMID 22262902, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phase separation and zinc-induced transition modulate synaptic distribution and association of autism-linked CTTNBP2 and SHANK3.
    Title: Phase separation and zinc-induced transition modulate synaptic distribution and association of autism-linked CTTNBP2 and SHANK3.
  2. Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms.
    Title: Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms.
  3. CTTNBP2 Controls Synaptic Expression of Zinc-Related Autism-Associated Proteins and Regulates Synapse Formation and Autism-like Behaviors.
    Title: CTTNBP2 Controls Synaptic Expression of Zinc-Related Autism-Associated Proteins and Regulates Synapse Formation and Autism-like Behaviors.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 
  • Endonuclease-mediated (5)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SH3 domain binding ISO
Inferred from Sequence Orthology
more info
  
enables cytoskeletal regulatory protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within actin cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of modification of postsynaptic actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of synapse organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synapse organization ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in glutamatergic synapse IC
Inferred by Curator
more info
 PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
  
is_active_in postsynaptic actin cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic actin cytoskeleton IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
cortactin-binding protein 2
Names
CTTNBP2 intron retention form
cortactin-binding protein 2 intron retention form

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_080285.2 → NP_525024.1  cortactin-binding protein 2

    See identical proteins and their annotated locations for NP_525024.1

    Status: VALIDATED

    Source sequence(s)
    AC027654, AC158663
    Consensus CDS
    CCDS39432.1
    UniProtKB/Swiss-Prot
    B9EJA2, G3X9L7, Q69ZB2, Q8BVG1, Q8C044
    Related
    ENSMUSP00000088089.6, ENSMUST00000090601.12
    Conserved Domains (7) summary
    PRK11331
    Location:1071 → 1357
    PRK11331; 5-methylcytosine-specific restriction enzyme subunit McrB; Provisional
    cd00204
    Location:728 → 853
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam09486
    Location:108 → 258
    HrpB7; Bacterial type III secretion protein (HrpB7)
    pfam09727
    Location:36 → 179
    CortBP2; Cortactin-binding protein-2
    pfam12796
    Location:738 → 829
    Ank_2; Ankyrin repeats (3 copies)
    pfam14739
    Location:133 → 239
    DUF4472; Domain of unknown function (DUF4472)
    sd00045
    Location:766 → 797
    ANK; ANK repeat [structural motif]

RNA

  1. NR_149735.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027654, AC158663
    Related
    ENSMUST00000148602.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    18366470..18515216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505104.3 → XP_006505167.1  cortactin-binding protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B9EJA2
    Conserved Domains (6) summary
    PRK11331
    Location:1030 → 1316
    PRK11331; 5-methylcytosine-specific restriction enzyme subunit McrB; Provisional
    PHA03247
    Location:352 → 656
    PHA03247; large tegument protein UL36; Provisional
    PRK00409
    Location:173 → 259
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    sd00045
    Location:725 → 756
    ANK; ANK repeat [structural motif]
    pfam09727
    Location:36 → 204
    CortBP2; Cortactin-binding protein-2
    pfam12796
    Location:697 → 784
    Ank_2; Ankyrin repeats (3 copies)

  2. XM_011241065.4 → XP_011239367.1  cortactin-binding protein 2 isoform X2

    Conserved Domains (7) summary
    PRK11331
    Location:1071 → 1357
    PRK11331; 5-methylcytosine-specific restriction enzyme subunit McrB; Provisional
    PHA03247
    Location:276 → 703
    PHA03247; large tegument protein UL36; Provisional
    PRK00409
    Location:173 → 259
    PRK00409; recombination and DNA strand exchange inhibitor protein; Reviewed
    sd00045
    Location:766 → 797
    ANK; ANK repeat [structural motif]
    pfam09727
    Location:36 → 204
    CortBP2; Cortactin-binding protein-2
    pfam12796
    Location:738 → 825
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:702 → 754
    Ank_4; Ankyrin repeats (many copies)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B9EJA2.2 GenPept UniProtKB/Swiss-Prot:B9EJA2

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