Kcnj2 MGI Mouse Gene Detail - MGI:104744 - potassium inwardly-rectifying channel, subfamily J, member 2

Symbol

Kcnj2
Name

potassium inwardly-rectifying channel, subfamily J, member 2
Synonyms

IRK1, Kcnf1, Kir2.1

Feature Type

protein coding gene
IDs

MGI:104744
NCBI Gene: 16518
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr11:110956990-110967647 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 75.23 cM
Mapping Data

11 experiments

SNPs within 2kb

323 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104744	protein coding gene	Chr11:110956990-110967651 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019347	protein coding gene	Chr11:114736493-114748971 (+)
A/J	MGP_AJ_G0019315	protein coding gene	Chr11:109772432-109784163 (+)
AKR/J	MGP_AKRJ_G0019284	protein coding gene	Chr11:113037412-113048091 (+)
BALB/cJ	MGP_BALBcJ_G0019289	protein coding gene	Chr11:110204701-110215996 (+)
C3H/HeJ	MGP_C3HHeJ_G0019098	protein coding gene	Chr11:113361383-113374058 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019739	protein coding gene	Chr11:118193006-118205834 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017362	protein coding gene	Chr11:106935498-106946281 (+)
CAST/EiJ	MGP_CASTEiJ_G0018651	protein coding gene	Chr11:114545312-114556213 (+)
CBA/J	MGP_CBAJ_G0019067	protein coding gene	Chr11:123028901-123041861 (+)
DBA/2J	MGP_DBA2J_G0019179	protein coding gene	Chr11:109242067-109252997 (+)
FVB/NJ	MGP_FVBNJ_G0019170	protein coding gene	Chr11:108688982-108700546 (+)
LP/J	MGP_LPJ_G0019249	protein coding gene	Chr11:115148158-115159584 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019201	protein coding gene	Chr11:122180653-122194374 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019776	protein coding gene	Chr11:113639477-113650119 (+)
PWK/PhJ	MGP_PWKPhJ_G0018416	protein coding gene	Chr11:110415870-110427118 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018208	protein coding gene	Chr11:113446630-113457281 (+)
WSB/EiJ	MGP_WSBEiJ_G0018703	protein coding gene	Chr11:113573394-113589390 (+)

Human Ortholog

KCNJ2, potassium inwardly rectifying channel subfamily J member 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KCNJ2, potassium inwardly rectifying channel subfamily J member 2
Synonyms

ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3
Links

HGNC:6263

NCBI Gene ID: 3759

neXtProt AC: NX_P63252

UniProt: P63252
Chr Location

17q24.3; chr17:70168673-70180044 (+) GRCh38

MGI Vertebrate Homology

Kcnj2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KCNJ2
Protein SuperFamily

GIRK_kir
Gene Tree

Kcnj2

Diseases

4 with human KCNJ2 associations

				Human Disease	Mouse Models
				Andersen-Tawil syndrome IDs Andersen-Tawil syndrome DOID:0050434 MESH:D050030 NCI:C84559 OMIM:170390 ORDO:37553 UMLS_CUI:C1563715
				familial atrial fibrillation IDs familial atrial fibrillation DOID:0050650 OMIM:607554 OMIM:608583 OMIM:608988 OMIM:611493 OMIM:611494 OMIM:612201 OMIM:612240 OMIM:613055 OMIM:613980 OMIM:614022 OMIM:614049 OMIM:614050 OMIM:615377 OMIM:615378 OMIM:615770 OMIM:PS608583 ORDO:334
				familial periodic paralysis IDs familial periodic paralysis DOID:1029 ICD10CM:G72.3 MESH:D010245 NCI:C84709 UMLS_CUI:C0030443
				short QT syndrome IDs short QT syndrome DOID:0050793 OMIM:609620 OMIM:609621 OMIM:609622

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

14 phenotypes from 1 allele in 1 genetic background
19 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Endonuclease-mediated

3
Targeted

5
Transgenic

6
Genomic Mutations

4 involving Kcnj2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries.

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All GO Annotations

63
GO References

14

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

788
Tissues

55
cDNA Data

20
Literature Summary

17

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kcnj2

ZFIN kcnj2a, kcnj2b

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All Sequences

35
RefSeq

2
UniProt

2
CCDS

CCDS25594.1

Ensembl

ENSMUSG00000041695 (Evidence)
NCBI Gene

16518

			Length	Strain/Species	Flank
genomic	ENSMUSG00000041695	Ensembl Gene Model \| MGI Sequence Detail	10658	C57BL/6J	± kb
transcript	ENSMUST00000042970	Ensembl \| MGI Sequence Detail	5444	Not Applicable
polypeptide	ENSMUSP00000037192	Ensembl \| MGI Sequence Detail	428	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000002056 inward rectifier potassium channel 2

(term hierarchy)
PDB

1U4F, 2GIX, 2XKY
InterPro Domains

IPR014756 Immunoglobulin E-set

IPR041647 Inward rectifier potassium channel, C-terminal

IPR016449 Potassium channel, inwardly rectifying, Kir

IPR003271 Potassium channel, inwardly rectifying, Kir2.1

IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmic

IPR013673 Potassium channel, inwardly rectifying, Kir, N-terminal

IPR040445 Potassium channel, inwardly rectifying, transmembrane domain
GlyGen

P35561 1 site, 1 O-linked glycan (1 site)

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All nucleic 30

Genomic 5

cDNA 20

Primer pair 3

Other 2

Microarray probesets 3

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MGD-MRK-11578, MGD-MRK-28035

Summaries

All 107

Developmental Gene Expression 17

Gene Ontology 14

Phenotypes 19
Earliest

J:32220 Pravtcheva DD, et al., Timing of paternal Pgk-1 expression in embryos of transgenic mice. Development. 1991 Apr;111(4):1109-20
Latest

J:345879 Huang X, et al., Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature. 2023 Nov;623(7988):772-781

TSS for Kcnj2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr105735	Chr11:110956751-110956771 (+)	-229 bp
Tssr105736	Chr11:110956980-110957000 (+)	0 bp
Tssr105737	Chr11:110957009-110957014 (+)	22 bp
Tssr105738	Chr11:110964543-110964565 (+)	7,564 bp
Tssr105739	Chr11:110964604-110964618 (+)	7,621 bp
Tssr105740	Chr11:110964758-110964762 (+)	7,770 bp
Tssr105741	Chr11:110966257-110966270 (+)	9,274 bp
Tssr105742	Chr11:110966277-110966298 (+)	9,298 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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