CNKSR3 CNKSR family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNKSR3provided by HGNC
Official Full Name: CNKSR family member 3provided by HGNC
Primary source: HGNC:HGNC:23034
See related: Ensembl:ENSG00000153721 MIM:617476; AllianceGenome:HGNC:23034
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNK3; MAGI1; CNK3/IPCEF1
Summary: Predicted to be involved in negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-serine phosphorylation; and positive regulation of sodium ion transport. Predicted to act upstream of or within positive regulation of sodium ion transmembrane transporter activity. Predicted to be located in apical plasma membrane and cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in esophagus (RPKM 6.3), kidney (RPKM 5.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (154387515..154510685, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (155589037..155712112, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (154708649..154831819, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Significance of miR-15a-5p and CNKSR3 as Novel Prognostic Biomarkers in Non-Small Cell Lung Cancer
Title: Significance of miR-15a-5p and CNKSR3 as Novel Prognostic Biomarkers in Non-Small Cell Lung Cancer.
SCAF8-CNKSR3 variant rs955333 was not associated with diabetic kidney disease but showed association with diabetic retinopathy in Chinese type 2 diabetes patients
Title: The Association of a Genetic Variant in SCAF8-CNKSR3 with Diabetic Kidney Disease and Diabetic Retinopathy in a Chinese Population.
Cox regression and Kaplan-Meier survival analysis identified that amplification of the CNKSR3 gene (log-rank, P = 0.022) with an associated increase in its protein expression (log-rank, P = 0.011) correlated with longer patient survival.
Title: Single nucleotide polymorphism array analysis of uveal melanomas reveals that amplification of CNKSR3 is correlated with improved patient survival.
CNK3 is a molecular scaffold, which coordinates the assembly of a multiprotein ENaC-regulatory complex and hence plays a central role in Na(+) homeostasis.
Title: Scaffold protein connector enhancer of kinase suppressor of Ras isoform 3 (CNK3) coordinates assembly of a multiprotein epithelial sodium channel (ENaC)-regulatory complex.
two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power
Title: Differential gene expression profile in PBMCs from subjects with AERD and ATA: a gene marker for AERD.
CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration.
Title: CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
CNKSR3, a homologue of scaffold proteins involved in MAPK pathway regulation, is a direct target of MR and is required for the maintenance of transepithelial sodium transport in the kidney.
Title: Cnksr3 is a direct mineralocorticoid receptor target gene and plays a key role in the regulation of the epithelial sodium channel.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146366 (e-PCR)
- UniSTS:172595

RH35924 (e-PCR)
- UniSTS:22845

SHGC-33591 (e-PCR)
- UniSTS:49804

RH79081 (e-PCR)
- UniSTS:69315

SHGC-147273 (e-PCR)
- UniSTS:172782

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of peptidyl-serine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sodium ion transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: connector enhancer of kinase suppressor of ras 3

Names: CNK homolog protein 3; connector enhancer of KSR 3; maguin-like protein; membrane associated guanylate kinase, WW and PDZ domain containing 1; membrane-associated guanylate kinase-interacting protein-like 1

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_001368116.1 → NP_001355045.1 connector enhancer of kinase suppressor of ras 3 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL357075
NM_001368117.1 → NP_001355046.1 connector enhancer of kinase suppressor of ras 3 isoform 3

Status: VALIDATED

Source sequence(s)

AL357075
NM_001368118.1 → NP_001355047.1 connector enhancer of kinase suppressor of ras 3 isoform 4

Status: VALIDATED

Source sequence(s)

AK309680, AL357075

Consensus CDS

CCDS94023.1

UniProtKB/TrEMBL

A0A5H1ZRR2

Related

ENSP00000418975.1, ENST00000479339.5

Conserved Domains (3) summary

pfam06663
Location:252 → 465

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:1 → 92

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras

cl00117
Location:141 → 225

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
NM_001368119.1 → NP_001355048.1 connector enhancer of kinase suppressor of ras 3 isoform 5

Status: VALIDATED

Source sequence(s)

AL357075, AY328894

Related

ENST00000433165.6
NM_173515.4 → NP_775786.2 connector enhancer of kinase suppressor of ras 3 isoform 2

See identical proteins and their annotated locations for NP_775786.2

Status: VALIDATED

Source sequence(s)

AK055911, AL033376, AL357075, AL590401, AY328892, AY328893, BC060761

Consensus CDS

CCDS5246.1

UniProtKB/Swiss-Prot

C9IZX4, Q5SGD5, Q6P9H4, Q96N65

Related

ENSP00000475915.1, ENST00000607772.6

Conserved Domains (4) summary

cd09511
Location:4 → 72

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

pfam06663
Location:334 → 545

DUF1170; Protein of unknown function (DUF1170)

pfam10534
Location:80 → 171

CRIC_ras_sig; Connector enhancer of kinase suppressor of ras

cl00117
Location:221 → 305

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...