Eif2ak4 MGI Mouse Gene Detail - MGI:1353427 - eukaryotic translation initiation factor 2 alpha kinase 4

Symbol

Eif2ak4
Name

eukaryotic translation initiation factor 2 alpha kinase 4
Synonyms

GCN2

Feature Type

protein coding gene
IDs

MGI:1353427
NCBI Gene: 27103
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:118219099-118305715 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 59.40 cM, cytoband E5
Mapping Data

2 experiments

SNPs within 2kb

2409 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353427	protein coding gene	Chr2:118219065-118305715 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026314	protein coding gene	Chr2:121073479-121160891 (+)
A/J	MGP_AJ_G0026275	protein coding gene	Chr2:116159389-116245526 (+)
AKR/J	MGP_AKRJ_G0026254	protein coding gene	Chr2:119418913-119505240 (+)
BALB/cJ	MGP_BALBcJ_G0026288	protein coding gene	Chr2:116412444-116500293 (+)
C3H/HeJ	MGP_C3HHeJ_G0026034	protein coding gene	Chr2:119868201-119958296 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026735	protein coding gene	Chr2:125072581-125165959 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024115	protein coding gene	Chr2:111199397-111292041 (+)
CAST/EiJ	MGP_CASTEiJ_G0025496	protein coding gene	Chr2:120178261-120271930 (+)
CBA/J	MGP_CBAJ_G0026010	protein coding gene	Chr2:129492363-129590545 (+)
DBA/2J	MGP_DBA2J_G0026149	protein coding gene	Chr2:115578046-115664801 (+)
FVB/NJ	MGP_FVBNJ_G0026111	protein coding gene	Chr2:114406387-114492157 (+)
LP/J	MGP_LPJ_G0026250	protein coding gene	Chr2:121393202-121485109 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026130	protein coding gene	Chr2:133871537-133959339 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026790	protein coding gene	Chr2:119531966-119625703 (+)
PWK/PhJ	MGP_PWKPhJ_G0025232	protein coding gene	Chr2:115130939-115218646 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025031	protein coding gene	Chr2:118697406-118784622 (+)
WSB/EiJ	MGP_WSBEiJ_G0025565	protein coding gene	Chr2:120355723-120446821 (+)

Human Ortholog

EIF2AK4, eukaryotic translation initiation factor 2 alpha kinase 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EIF2AK4, eukaryotic translation initiation factor 2 alpha kinase 4
Synonyms

GCN2, PVOD2
Links

HGNC:19687

NCBI Gene ID: 440275

neXtProt AC: NX_Q9P2K8

UniProt: Q9P2K8
Chr Location

15q15.1

MGI Vertebrate Homology

Eif2ak4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EIF2AK4
Protein SuperFamily

Ser/Thr_PK_GCN2
Gene Tree

Eif2ak4

Diseases

1 with human EIF2AK4 associations

				Human Disease	Mouse Models
				pulmonary venoocclusive disease 2 IDs pulmonary venoocclusive disease 2 DOID:0081269 OMIM:234810

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

less

Phenotype Summary

25 phenotypes from 4 alleles in 7 genetic backgrounds
2 phenotypes from multigenic genotypes
1 images
97 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

14
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

4
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Eif2ak4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

89 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a null allele have altered feeding behavior, synaptic plasticity and dendritic cell function. Homozygotes for another null allele show enhanced muscle loss and morbidity after amino acid deprivation. Homozygotes for an ENU-induced allele show higher susceptibility to viral infection.

less

All GO Annotations

85
GO References

26

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.

less

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

744
Tissues

14
cDNA Data

65
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase eif2ak4

ZFIN eif2ak4

less

All Sequences

80
RefSeq

18
UniProt

5
CCDS

CCDS16576.1, CCDS50669.1

Ensembl

ENSMUSG00000005102 (Evidence)
NCBI Gene

27103

			Length	Strain/Species	Flank
genomic	ENSMUSG00000005102	Ensembl Gene Model \| MGI Sequence Detail	86617	C57BL/6J	± kb
transcript	ENSMUST00000005233	Ensembl \| MGI Sequence Detail	5212	Not Applicable
polypeptide	ENSMUSP00000005233	Ensembl \| MGI Sequence Detail	1648	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000006961 eIF-2-alpha kinase GCN2

(term hierarchy)
PDB

1UKX, 4OTN
EC

2.7.11.1
InterPro Domains

IPR036621 Anticodon-binding domain superfamily

IPR050339 Cell Cycle and Stress Response Kinase

IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)

IPR041715 Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain

IPR016255 eIF-2-alpha kinase Gcn2

IPR024435 Histidyl tRNA synthetase-related domain

IPR050538 Mitogen-activated protein kinase kinase kinase

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR006575 RWD domain

IPR008271 Serine/threonine-protein kinase, active site

IPR016135 Ubiquitin-conjugating enzyme/RWD-like

less

All nucleic 71

cDNA 66

Primer pair 5

Microarray probesets 3

Summaries

All 156

Developmental Gene Expression 8

Gene Ontology 26

Phenotypes 97
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:344406 Hou Y, et al., Downregulation of nutrition sensor GCN2 in macrophages contributes to poor wound healing in diabetes. Cell Rep. 2024 Jan 3;43(1):113658

TSS for Eif2ak4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19554	Chr2:118219071-118219087 (+)	-20 bp
Tssr19555	Chr2:118219096-118219121 (+)	10 bp
Tssr19556	Chr2:118219132-118219150 (+)	42 bp
Tssr19557	Chr2:118219155-118219164 (+)	61 bp
Tssr19558	Chr2:118293078-118293081 (+)	73,981 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24