Edem3 MGI Mouse Gene Detail - MGI:1914217 - ER degradation enhancer, mannosidase alpha-like 3

Symbol

Edem3
Name

ER degradation enhancer, mannosidase alpha-like 3
Synonyms

2310050N11Rik

Feature Type

protein coding gene
IDs

MGI:1914217
NCBI Gene: 66967
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr1:151631122-151697802 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 64.34 cM
Mapping Data

1 experiment

SNPs within 2kb

1392 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914217	protein coding gene	Chr1:151631099-151698079 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016584	protein coding gene	Chr1:156503539-156569660 (+)
A/J	MGP_AJ_G0016566	protein coding gene	Chr1:150186456-150252557 (+)
AKR/J	MGP_AKRJ_G0016531	protein coding gene	Chr1:154819931-154890962 (+)
BALB/cJ	MGP_BALBcJ_G0016526	protein coding gene	Chr1:150756878-150822287 (+)
C3H/HeJ	MGP_C3HHeJ_G0016351	protein coding gene	Chr1:154939955-155005793 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016987	protein coding gene	Chr1:161919689-161986168 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014696	protein coding gene	Chr1:142515183-142581358 (+)
CAST/EiJ	MGP_CASTEiJ_G0015930	protein coding gene	Chr1:154385325-154455944 (+)
CBA/J	MGP_CBAJ_G0016325	protein coding gene	Chr1:167615797-167687268 (+)
DBA/2J	MGP_DBA2J_G0016431	protein coding gene	Chr1:149226347-149291597 (+)
FVB/NJ	MGP_FVBNJ_G0016429	protein coding gene	Chr1:147682360-147747191 (+)
LP/J	MGP_LPJ_G0016502	protein coding gene	Chr1:157578262-157644744 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016455	protein coding gene	Chr1:175298822-175365162 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017023	protein coding gene	Chr1:154579687-154649632 (+)
PWK/PhJ	MGP_PWKPhJ_G0015716	protein coding gene	Chr1:148196820-148262589 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015503	protein coding gene	Chr1:153418860-153485445 (+)
WSB/EiJ	MGP_WSBEiJ_G0015993	protein coding gene	Chr1:154671108-154738566 (+)

Human Ortholog

EDEM3, ER degradation enhancing alpha-mannosidase like protein 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EDEM3, ER degradation enhancing alpha-mannosidase like protein 3
Synonyms

C1orf22, CDG2V
Links

HGNC:16787

NCBI Gene ID: 80267

neXtProt AC: NX_Q9BZQ6

UniProt: Q9BZQ6
Chr Location

1q25.3; chr1:184690237-184754907 (-) GRCh38

MGI Vertebrate Homology

Edem3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EDEM3
Gene Tree

Edem3

Diseases

1 with human EDEM3 associations

				Human Disease	Mouse Models
				congenital disorder of glycosylation type II IDs congenital disorder of glycosylation type II DOID:0050571 MESH:C535747 OMIM:PS212066

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

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
11 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

12
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

5
Targeted

4
Genomic Mutations

2 involving Edem3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

34 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

21
GO References

7

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

706
cDNA Data

9

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase edem3

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All Sequences

74
RefSeq

28
UniProt

6
CCDS

CCDS35736.1, CCDS78701.1, CCDS78702.1

Ensembl

ENSMUSG00000043019 (Evidence)
NCBI Gene

66967

			Length	Strain/Species	Flank
genomic	ENSMUSG00000043019	Ensembl Gene Model \| MGI Sequence Detail	66681	C57BL/6J	± kb
transcript	ENSMUST00000188145	Ensembl \| MGI Sequence Detail	3262	Not Applicable
polypeptide	ENSMUSP00000140443	Ensembl \| MGI Sequence Detail	947	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000006894 ER degradation-enhancing alpha-mannosidase-like protein 3

(term hierarchy)
EC

3.2.1.-, 3.2.1.113
InterPro Domains

IPR037322 EDEM3, PA domain

IPR044674 ER degradation-enhancing alpha-mannosidase-like protein 1/2/3

IPR001382 Glycoside hydrolase family 47

IPR003137 PA domain

IPR046450 PA domain superfamily

IPR036026 Seven-hairpin glycosidases

IPR012341 Six-hairpin glycosidase-like superfamily
GlyGen

Q2HXL6 7 sites, 3 N-linked glycans (2 sites)

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All nucleic 9

cDNA 9

Microarray probesets 3

Summaries

All 36

Gene Ontology 7

Phenotypes 11
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Edem3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr9402	Chr1:151631090-151631144 (+)	-5 bp
Tssr9403	Chr1:151631160-151631192 (+)	54 bp
Tssr9404	Chr1:151631203-151631214 (+)	87 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