Elp4 MGI Mouse Gene Detail - MGI:1925016 - elongator acetyltransferase complex subunit 4

Symbol

Elp4
Name

elongator acetyltransferase complex subunit 4
Synonyms

A330107A17Rik, Paxneb

Feature Type

protein coding gene
IDs

MGI:1925016
NCBI Gene: 77766
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr2:105531372-105734909 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 55.33 cM
Mapping Data

3 experiments

SNPs within 2kb

3690 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925016	protein coding gene	Chr2:105527665-105734909 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026231	protein coding gene	Chr2:107876539-108089160 (-)
A/J	MGP_AJ_G0026192	protein coding gene	Chr2:103379768-103584869 (-)
AKR/J	MGP_AKRJ_G0026172	protein coding gene	Chr2:106200116-106412212 (-)
BALB/cJ	MGP_BALBcJ_G0026201	protein coding gene	Chr2:103656880-103860879 (-)
C3H/HeJ	MGP_C3HHeJ_G0025951	protein coding gene	Chr2:106501270-106701349 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026652	protein coding gene	Chr2:111410859-111602091 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024038	protein coding gene	Chr2:99167944-99371982 (-)
CAST/EiJ	MGP_CASTEiJ_G0025416	protein coding gene	Chr2:107030570-107239321 (-)
CBA/J	MGP_CBAJ_G0025929	protein coding gene	Chr2:115258095-115494123 (-)
DBA/2J	MGP_DBA2J_G0026067	protein coding gene	Chr2:102913950-103137325 (-)
FVB/NJ	MGP_FVBNJ_G0026030	protein coding gene	Chr2:101894327-102101222 (-)
LP/J	MGP_LPJ_G0026170	protein coding gene	Chr2:108007844-108254341 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026054	protein coding gene	Chr2:119077395-119322251 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026706	protein coding gene	Chr2:106388055-106600266 (-)
PWK/PhJ	MGP_PWKPhJ_G0025151	protein coding gene	Chr2:102458786-102655848 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024951	protein coding gene	Chr2:105611417-105837086 (-)
WSB/EiJ	MGP_WSBEiJ_G0025483	protein coding gene	Chr2:107132564-107336457 (-)

Human Ortholog

ELP4, elongator acetyltransferase complex subunit 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ELP4, elongator acetyltransferase complex subunit 4
Synonyms

AN, AN2, C11orf19, dJ68P15A.1, hELP4, PAX6NEB, PAXNEB
Links

HGNC:1171

NCBI Gene ID: 26610

neXtProt AC: NX_Q96EB1

UniProt: Q96EB1
Chr Location

11p13; chr11:31509755-31790324 (+) GRCh38

MGI Vertebrate Homology

Elp4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ELP4
Gene Tree

Elp4

Diseases

1 with human ELP4 associations

				Human Disease	Mouse Models
				aniridia IDs aniridia DOID:12271 ICD10CM:Q13.1 ICD9CM:743.45 MESH:D015783 NCI:C84563 OMIM:PS106210 ORDO:250923 UMLS_CUI:C0003076

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

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Phenotype Summary

5 phenotypes from 2 alleles in 2 genetic backgrounds
12 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

15
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

3
Radiation induced

2
Spontaneous

2
Targeted

2
Genomic Mutations

5 involving Elp4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

18
GO References

5

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

721
Tissues

9
cDNA Data

16
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase elp4

ZFIN elp4

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All Sequences

47
RefSeq

2
UniProt

2
CCDS

CCDS16500.1

Ensembl

ENSMUSG00000027167 (Evidence)
NCBI Gene

77766

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027167	Ensembl Gene Model \| MGI Sequence Detail	203538	C57BL/6J	± kb
transcript	ENSMUST00000122965	Ensembl \| MGI Sequence Detail	3048	Not Applicable
polypeptide	ENSMUSP00000116575	Ensembl \| MGI Sequence Detail	422	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007045 elongator complex protein 4

(term hierarchy)
InterPro Domains

IPR008728 Elongator complex protein 4

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q9ER73 1 site, 1 O-linked glycan (1 site)

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All nucleic 17

cDNA 16

Primer pair 1

Microarray probesets 6

Summaries

All 39

Developmental Gene Expression 5

Gene Ontology 5

Phenotypes 12
Earliest

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

J:306113 Kojic M, et al., Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nat Commun. 2021 May 11;12(1):2678

TSS for Elp4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr25567	Chr2:105734829-105734872 (-)	58 bp
Tssr25566	Chr2:105617892-105617895 (-)	117,015 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