KCNJ18 potassium inwardly rectifying channel subfamily J member 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ18provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 18provided by HGNC
Primary source: HGNC:HGNC:39080
See related: Ensembl:ENSG00000260458 MIM:613236; AllianceGenome:HGNC:39080
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TTPP2; KIR2.6
Summary: This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]
Expression: Biased expression in skin (RPKM 1.2), heart (RPKM 0.3) and 9 other tissues See more
Orthologs: all
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Genomic context

Location:: 17p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (21692523..21704612)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (21641387..21653476)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17 (PATCHES)	NW_003315950.2 (344888..356977)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single-nucleotide variant in KCNJ18 gene is associated with Thyrotoxic Periodic Paralysis.
Title: Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis.
Study describes the functional consequences of a single amino acid change in Kir2.6 channel. The D252N mutation down-regulates the Kir2.6 activity, decreasing the K+ current density ( approximately 34%) when compared to the wildtype channel; whereas the mutation R386C shows no significant changes from wildtype.
Title: Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.
A novel KCNJ18 mutation, G169R, identified in the hypokalemic periodic paralysis patient demonstrated a significant functional defect in vitro.
Title: A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.
KCNJ18 alterations are seldom pathogenic
Title: Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
3.1% of thyrotoxic periodic paralysis cases had KCNJ18 gene mutations in mainland Chinese patients. Patients with KCNJ18 mutation had shorter attack duration, higher prevalence of muscle soreness and weakness recurrence than patients without the mutation.
Title: The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.
TPP and SPP have the same susceptible gene variant rs623011 and may share the pathogenic mechanism of reduced Kir current in skeletal muscle independent of thyroid hormone.
Title: Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.
suggest that decreased outward K(+) current from hypofunction of Kir2.6 predisposes the sarcolemma to hypokalemia-induced paradoxical depolarization during attacks, which in turn leads to Na(+) channel inactivation and inexcitability of muscles
Title: Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.
Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.
Title: Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.
While sequencing candidate genes, we identified a previously unreported gene (not present in human sequence databases) that encodes an inwardly rectifying potassium (Kir) channel, Kir2.6.
Title: Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

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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

Associated conditions

Description	Tests
Thyrotoxic periodic paralysis, susceptibility to, 2 MedGen: C2750473 OMIM: 613239 GeneReviews: Not available	Compare labs

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-11071 (e-PCR)
- UniSTS:53064

KCNJ12_870 (e-PCR)
- UniSTS:277420

KCNJ12_V177 (e-PCR)
- UniSTS:277420

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables inward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables inward rectifier potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inward rectifier potassium channel 18

Names: inward rectifier K(+) channel Kir2.6; inwardly rectifying potassium channel 18; potassium channel, inwardly rectifying subfamily J, member 18; potassium voltage-gated channel subfamily J member 18; thyrotoxic periodic paralysis susceptibility ion channel

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.

Genomic

NG_033093.1 RefSeqGene

Range

5001..17090

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001194958.2 → NP_001181887.2 inward rectifier potassium channel 18

Status: REVIEWED

Source sequence(s)

AC233702

Consensus CDS

CCDS74015.1

UniProtKB/Swiss-Prot

A0A075B742, A0A142CKZ1, A0A142CKZ2, B7U540

UniProtKB/TrEMBL

Q6L5N3

Related

ENSP00000457807.2, ENST00000567955.3

Conserved Domains (2) summary

pfam01007
Location:47 → 374

IRK; Inward rectifier potassium channel

pfam08466
Location:3 → 46

IRK_N; Inward rectifier potassium channel N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

21692523..21704612

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005276919.4 → XP_005276976.1 inward rectifier potassium channel 18 isoform X1

UniProtKB/TrEMBL

Q6L5N3

Conserved Domains (2) summary

pfam01007
Location:149 → 476

IRK; Inward rectifier potassium channel

pfam08466
Location:105 → 148

IRK_N; Inward rectifier potassium channel N-terminal