Emilin2 MGI Mouse Gene Detail - MGI:2389136 - elastin microfibril interfacer 2

Symbol

Emilin2
Name

elastin microfibril interfacer 2
Synonyms

basilin, FOAP-10

Feature Type

protein coding gene
IDs

MGI:2389136
NCBI Gene: 246707
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr17:71252172-71311633 bp, - strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 41.87 cM
Mapping Data

3 experiments

SNPs within 2kb

513 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2389136	protein coding gene	Chr17:71252172-71311978 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024006	protein coding gene	Chr17:73688366-73752140 (-)
A/J	MGP_AJ_G0023964	protein coding gene	Chr17:71459656-71518682 (-)
AKR/J	MGP_AKRJ_G0023933	protein coding gene	Chr17:72424974-72483412 (-)
BALB/cJ	MGP_BALBcJ_G0023965	protein coding gene	Chr17:71359081-71418464 (-)
C3H/HeJ	MGP_C3HHeJ_G0023729	protein coding gene	Chr17:73384246-73445115 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024411	protein coding gene	Chr17:76373698-76446063 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021856	protein coding gene	Chr17:67221841-67281017 (-)
CAST/EiJ	MGP_CASTEiJ_G0023210	protein coding gene	Chr17:73809592-73872369 (-)
CBA/J	MGP_CBAJ_G0023704	protein coding gene	Chr17:79550500-79617838 (-)
DBA/2J	MGP_DBA2J_G0023833	protein coding gene	Chr17:70125719-70183904 (-)
FVB/NJ	MGP_FVBNJ_G0023799	protein coding gene	Chr17:69591673-69651123 (-)
LP/J	MGP_LPJ_G0023915	protein coding gene	Chr17:74444330-74503190 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023827	protein coding gene	Chr17:79418523-79492307 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024455	protein coding gene	Chr17:72940564-73002068 (-)
PWK/PhJ	MGP_PWKPhJ_G0022956	protein coding gene	Chr17:69427586-69490525 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022767	protein coding gene	Chr17:69656776-69716978 (-)
WSB/EiJ	MGP_WSBEiJ_G0023277	protein coding gene	Chr17:73762599-73823460 (-)

Human Ortholog

EMILIN2, elastin microfibril interfacer 2

Vertebrate Orthologs

10

Human Ortholog

EMILIN2, elastin microfibril interfacer 2
Orthology source: HomoloGene, HGNC
Synonyms

EMILIN-2, FOAP-10
Links

HGNC:19881

NCBI Gene ID: 84034

neXtProt AC: NX_Q9BXX0

UniProt: Q9BXX0
Chr Location

18p11.32-p11.31; chr18:2847030-2914092 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 36483
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: EMILIN2
Gene Tree

Emilin2

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Phenotype Summary

4 phenotypes from 2 alleles in 2 genetic backgrounds
2 phenotypes from multigenic genotypes
3 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

3
Endonuclease-mediated

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

35 strains or lines available

Mice homozygous for a knock-out allele exhibit disruptions in platelet activation, thrombus formation and clot retraction.

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All GO Annotations

8
GO References

6

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

21
Tissues

2
cDNA Data

46
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase emilin2

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Emilin2 interacts with 146 markers (Mir9-1, Mir9-2, Mir9-3, ...) View All

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All Sequences

94
RefSeq

8
UniProt

13
CCDS

CCDS37686.1
UniGene

23462

Ensembl

ENSMUSG00000024053 (Evidence)
NCBI Gene

246707

			Length	Strain/Species	Flank
genomic	246707	NCBI Gene Model \| MGI Sequence Detail	59462	C57BL/6J	± kb
transcript	NM_145158	RefSeq \| MGI Sequence Detail	3967	C57BL/6
polypeptide	Q8K482	UniProt \| EBI \| MGI Sequence Detail	1074	Not Applicable

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UniProt

13 Sequences
Protein Ontology

PR:000007054 EMILIN-2

(term hierarchy)
InterPro Domains

IPR001073 C1q domain

IPR011489 EMI domain

IPR008983 Tumour necrosis factor-like domain superfamily

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All nucleic 46

cDNA 46

Microarray probesets 4

Summaries

All 36

Developmental Gene Expression 5

Gene Ontology 6

Phenotypes 3
Earliest

J:78991 Leimeister C, et al., Developmental expression and biochemical characterization of Emu family members. Dev Biol. 2002 Sep 15;249(2):204-18
Latest

J:242904 Lacko LA, et al., Altered feto-placental vascularization, feto-placental malperfusion and fetal growth restriction in mice with Egfl7 loss of function. Development. 2017 Jul 01;144(13):2469-2479

TSS for Emilin2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr149284	Chr17:71310975-71310995 (-)	648 bp
Tssr149283	Chr17:71310952-71310969 (-)	672 bp
Tssr149282	Chr17:71310925-71310947 (-)	697 bp
Tssr149281	Chr17:71310899-71310917 (-)	725 bp
Tssr149280	Chr17:71310833-71310844 (-)	794 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 & Copyright Notice Send questions and comments to User Support.	last database update 06/11/2019 MGI 6.14