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

Summary

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

Location:: 6; 6 A2

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
109	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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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

AI045527 (e-PCR)
- UniSTS:248399

09.MMHAP76FRC9.seq (e-PCR)
- UniSTS:122994

AU040881 (e-PCR)
- UniSTS:164310

REN62252 (e-PCR)
- UniSTS:387052

Homology

Homologs of the Cttnbp2 gene: The Cttnbp2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 490 organisms have orthologs with human gene Cttnbp2
Orthologs

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	PubMed
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	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)

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, 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

NR_149735.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC027654, AC158663

Related

ENSMUST00000148602.8

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

18366470..18515216 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)