Areg MGI Mouse Gene Detail - MGI:88068 - amphiregulin

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Areg Gene Detail

Symbol

Areg
Name

amphiregulin
Synonyms

AR, Mcub, Sdgf

Feature Type

protein coding gene
IDs

MGI:88068
NCBI Gene: 11839
Alliance

gene page
Transcription Start Sites

3 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr5:91287458-91296291 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 44.78 cM
Mapping Data

6 experiments

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SNPs within 2kb

311 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_88068	protein coding gene	Chr5:91287458-91296291 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029736	protein coding gene	Chr5:92217837-92226659 (+)
A/J	MGP_AJ_G0029702	protein coding gene	Chr5:88601985-88610818 (+)
AKR/J	MGP_AKRJ_G0029648	protein coding gene	Chr5:91470655-91479474 (+)
BALB/cJ	MGP_BALBcJ_G0029712	protein coding gene	Chr5:89480243-89489063 (+)
C3H/HeJ	MGP_C3HHeJ_G0029435	protein coding gene	Chr5:91874662-91883482 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030166	protein coding gene	Chr5:95916245-95925078 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027402	protein coding gene	Chr5:84278625-84287312 (+)
CAST/EiJ	MGP_CASTEiJ_G0028845	protein coding gene	Chr5:91255772-91286831 (+)
CBA/J	MGP_CBAJ_G0029405	protein coding gene	Chr5:99187227-99196047 (+)
DBA/2J	MGP_DBA2J_G0029549	protein coding gene	Chr5:88658770-88667590 (+)
FVB/NJ	MGP_FVBNJ_G0029508	protein coding gene	Chr5:87504213-87513033 (+)
LP/J	MGP_LPJ_G0029637	protein coding gene	Chr5:92610376-92619198 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029537	protein coding gene	Chr5:104162976-104171795 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030200	protein coding gene	Chr5:91013177-91021999 (+)
PWK/PhJ	MGP_PWKPhJ_G0028564	protein coding gene	Chr5:87721800-87731073 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028399	protein coding gene	Chr5:90397325-90406281 (+)
WSB/EiJ	MGP_WSBEiJ_G0028924	protein coding gene	Chr5:91461844-91470685 (+)

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Human Ortholog

AREG, amphiregulin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AREG, amphiregulin
Synonyms

AR, AREGB, CRDGF, SDGF
Links

HGNC:651

NCBI Gene ID: 374

neXtProt AC: NX_P15514

UniProt: P15514
Chr Location

4q13.3; chr4:74445136-74455005 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: AREG
Gene Tree

Areg

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Diseases

1 with human AREG associations

				Human Disease	Mouse Models
				breast cancer IDs breast cancer DOID:1612 DOID:1648 DOID:4241 ICD10CM:C50 ICD9CM:174.8 MESH:D001943 NCI:C9335 OMIM:114480 UMLS_CUI:C0006142

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

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Phenotype Summary

11 phenotypes from 3 alleles in 4 genetic backgrounds
20 phenotypes from multigenic genotypes
72 phenotype references

Phenotype Overview

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

17
Chemically induced (other)

2
Endonuclease-mediated

6
Radiation induced

1
Spontaneous

2
Targeted

6
Genomic Mutations

4 involving Areg
Incidental Mutations

APF
Find Mice (IMSR)

29 strains or lines available

Homozygotes for a targeted null mutation exhibit impaired development of mammary gland ducts in pubescent females. Mutant ducts show retarded elongation with few terminal end buds.

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All GO Annotations

52
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

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

736
Tissues

19
cDNA Data

9
Literature Summary

29

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase areg

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All Sequences

31
RefSeq

2
UniProt

2
CCDS

CCDS19421.1

Ensembl

ENSMUSG00000029378 (Evidence)
NCBI Gene

11839

Representative Sequences				Length	Strain/Species	Flank
	genomic	11839	NCBI Gene Model \| MGI Sequence Detail	8834	C57BL/6J	± kb
	transcript	NM_009704	RefSeq \| MGI Sequence Detail	1215	ZRU/MplStud
	polypeptide	P31955	UniProt \| EBI \| MGI Sequence Detail	248	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004200 amphiregulin

(term hierarchy)
InterPro Domains

IPR000742 EGF-like domain
GlyGen

P31955 2 sites

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All nucleic 18

Genomic 1

cDNA 10

Primer pair 6

Other 1

Microarray probesets 3

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MGD-MRK-1388, MGD-MRK-16238, MGI:1890801

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Summaries

All 166

Developmental Gene Expression 29

Gene Ontology 14

Phenotypes 72
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:354883 Burton OT, et al., The tissue-resident regulatory T cell pool is shaped by transient multi-tissue migration and a conserved residency program. Immunity. 2024 Jul 9;57(7):1586-1602.e10

TSS for Areg:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr47261	Chr5:91285902-91285904 (+)	-1,555 bp
Tssr47262	Chr5:91287450-91287466 (+)	0 bp
Tssr47263	Chr5:91288911-91288917 (+)	1,456 bp

Areg is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Cdcs10	Chr5, 47.29 cM	Chr5:93280786-93280917	J:109420	Microarray analysis was used to identify candidate genes for colitis susceptibility QTLs. Messenger RNA was analyzed for expression differences between colitis susceptible inbred strain C3H/HeJBir-Il10 and colitis resistant inbred strain C57BL/6J-Il10. Capn3 (67.2 cM) on mouse Chromosome 2 is upregulated 1.5- to 2-fold in C3H/HeJBir-Il10 animals. This candidate gene maps to the Cdcs3 (cytokine deficiency colitis susceptibility 3) interval centered near 65 cM. Gbp1 (67.4 cM) on mouse Chromosome 3 is upregulated over 15-fold in C3H/HeJBir-Il10 animals. This candidate gene is known to be polymorphic between C3H/HeJBir and C57BL/6J and exhibits expression differences in these parental wild type strains. Gbp1 maps to the Cdcs1 (cytokine deficiency colitis susceptibility 1) interval centered near 62 cM. Adh1 at 71.2 cM and Bglap2 at 42.6 cM also map to the same QTL interval. Adh1 is upregulated 1.5- to 2-fold, and Blgap2 is upregulated 2- to 5-fold, in C3H/HeJBir-Il10animals. Pla2g2a (68 cM) on mouse Chromosome 4 is upregulated over 15-fold in C3H/HeJBir-Il10 animals. This candidate gene is known to be polymorphic between C3H/HeJBir and C57BL/6J and exhibits expression differences in these parental wild typestrains. Pla2g2a maps to the Cdcs9 (cytokine deficiency colitis susceptibility 9) interval centered near 71 cM. Moreover, C57BL/6J animals are known to carry the frameshift mutation Pla2g2a resulting in multiple intestinal neoplasia. The human ortholog PLA2G2A maps near a irritable bowel disorder (IBD) susceptibility locus named IBD7. Gnb1 (79.4 cM) also maps to the Cdcs9 QTL interval and is upregulated 2- to 5-fold in C57BL/6J-Il10 animals. Errfi1 (formerly 1300002F13Rik) and Tceb3 also map to the Cdcs9 interval and are upregulated 1.5- to 2-fold in C57BL/6J-Il10 animals. Areg (51 cM) on mouse Chromosome 5 maps near the Cdcs10 QTL interval centered around 45 cM. This candidate gene is upregulated 1.5- to 2-fold in C57BL/6J-Il10 animals. Mtmr7 maps to mouse Chromosome 8 near the Cdcs4 interval centered around 21 cM. This candidate gene is upregulated over 15-fold in C57BL/6J-Il10 animals. Cd14 (31 cM) on mouse Chromosome 18 is upregulated 5- to 15-fold inC3H/HeJBir-Il10 animals. CD14 also exhibits expression differences in parental wild type strains C3H/HeJBir and C57BL/6J. This candidate gene maps to the Cdcs6 (cytokine deficiency colitis susceptibility 6) interval centered near 41 cM. The human orthologCD14 maps near a human irritable bowel disorder (IBD) susceptibility locus named IBD5. Glo1 (16 cM) and Ly6g6c on mouse Chromosome 17 are upregulated 2- to 5-fold in C57BL/6J-Il10 animals. This candidate gene maps to the Cdcs5 (cytokine deficiency colitis susceptibility 5) interval centered near 19 cM. Hspa1a (18.9 cM) and Hspa1b (18.9 cM) also map to Cdcs5 and are upregulated 1.5- to 2-fold in C57BL/6J-Il10 animals.

*cM position of peak correlated region/marker

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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