Cnksr2 connector enhancer of kinase suppressor of Ras 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cnksr2provided by MGI
Official Full Name: connector enhancer of kinase suppressor of Ras 2provided by MGI
Primary source: MGI:MGI:2661175
See related: Ensembl:ENSMUSG00000025658 AllianceGenome:MGI:2661175
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: Cnk2; Ksr2
Summary: Predicted to enable identical protein binding activity and protein kinase binding activity. Involved in postsynaptic specialization organization. Located in postsynaptic density. Is active in glutamatergic synapse. Human ortholog(s) of this gene implicated in syndromic X-linked mental retardation Hough type. Orthologous to human CNKSR2 (connector enhancer of kinase suppressor of Ras 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cortex adult (RPKM 15.3), frontal lobe adult (RPKM 12.0) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F4; X 72.76 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (156604426..156827454, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (157821430..158044458, complement)

Chromosome X - NC_000086.8 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?

s-Afadin binds to MAGUIN/Cnksr2 and regulates the localization of the AMPA receptor and glutamatergic synaptic response in hippocampal neurons.
Title: s-Afadin binds to MAGUIN/Cnksr2 and regulates the localization of the AMPA receptor and glutamatergic synaptic response in hippocampal neurons.
The synaptic scaffolding protein CNKSR2 interacts with CYTH2 to mediate hippocampal granule cell development.
Title: The synaptic scaffolding protein CNKSR2 interacts with CYTH2 to mediate hippocampal granule cell development.
Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome.
Title: Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-16a6 (e-PCR)
- UniSTS:257314

UniSTS:224320 (e-PCR)
- UniSTS:224320

px-18c5 (e-PCR)
- UniSTS:257358

RH15676 (e-PCR)
- UniSTS:90703

D1S499 (e-PCR)
- UniSTS:41138

CNKSR2_4601 (e-PCR)
- UniSTS:462822

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within intracellular signal transduction	ISO Inferred from Sequence Orthology more info
involved_in postsynapse organization	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic specialization organization	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic specialization organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extrinsic component of postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of postsynaptic density membrane	ISO Inferred from Sequence Orthology more info
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
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: connector enhancer of kinase suppressor of ras 2

Names: CNK homolog protein 2; connector enhancer of KSR 2; connector enhancer of KSR2

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_001310719.1 → NP_001297648.1 connector enhancer of kinase suppressor of ras 2 isoform 2

See identical proteins and their annotated locations for NP_001297648.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

BC043093, DN173382

UniProtKB/Swiss-Prot

Q80YA9

Conserved Domains (8) summary

cd09511
Location:8 → 76

SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily

smart00454
Location:8 → 73

SAM; Sterile alpha motif

cd00992
Location:222 → 270

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01260
Location:510 → 623

PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

pfam00169
Location:524 → 620

PH; PH domain

pfam06663
Location:292 → 512

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:84 → 176

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras

pfam15499
Location:139 → 218

Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
NM_001374835.1 → NP_001361764.1 connector enhancer of kinase suppressor of ras 2 isoform 3

Status: VALIDATED

Source sequence(s)

AL732396, AL807779

Consensus CDS

CCDS90768.1

UniProtKB/TrEMBL

A2AI78

Related

ENSMUSP00000108132.2, ENSMUST00000112513.2

Conserved Domains (5) summary

cd09511
Location:8 → 76

SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily

cd00992
Location:222 → 294

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01260
Location:559 → 672

PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

pfam06663
Location:339 → 514

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:84 → 176

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
NM_177751.3 → NP_808419.1 connector enhancer of kinase suppressor of ras 2 isoform 1

See identical proteins and their annotated locations for NP_808419.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

BC043093, DN173382

Consensus CDS

CCDS30501.1

UniProtKB/Swiss-Prot

Q80TP2, Q80YA9

Related

ENSMUSP00000026750.9, ENSMUST00000026750.15

Conserved Domains (8) summary

cd09511
Location:8 → 76

SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily

smart00454
Location:8 → 73

SAM; Sterile alpha motif

cd00992
Location:222 → 294

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01260
Location:559 → 672

PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

pfam00169
Location:573 → 669

PH; PH domain

pfam06663
Location:341 → 561

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:84 → 176

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras

pfam15499
Location:139 → 218

Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase

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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

156604426..156827454 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017318507.2 → XP_017173996.1 connector enhancer of kinase suppressor of ras 2 isoform X2

Conserved Domains (5) summary

cd09511
Location:8 → 76

SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily

cd00992
Location:222 → 270

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01260
Location:480 → 593

PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

pfam06663
Location:290 → 435

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:84 → 176

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
XM_006528861.4 → XP_006528924.1 connector enhancer of kinase suppressor of ras 2 isoform X1

Conserved Domains (5) summary

cd09511
Location:8 → 76

SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily

cd00992
Location:222 → 294

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01260
Location:529 → 642

PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

pfam06663
Location:339 → 484

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:84 → 176

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
XM_017318508.3 → XP_017173997.1 connector enhancer of kinase suppressor of ras 2 isoform X4

Conserved Domains (5) summary

cd09511
Location:8 → 76

SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily

cd00992
Location:222 → 270

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01260
Location:510 → 623

PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

pfam06663
Location:290 → 465

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:84 → 176

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
XM_030251352.2 → XP_030107212.1 connector enhancer of kinase suppressor of ras 2 isoform X3

Conserved Domains (5) summary

cd09511
Location:8 → 76

SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily

cd00992
Location:222 → 294

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd01260
Location:529 → 642

PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

pfam06663
Location:339 → 484

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:84 → 176

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras