Epm2aip1 MGI Mouse Gene Detail - MGI:1925031 - EPM2A interacting protein 1

Symbol

Epm2aip1
Name

EPM2A interacting protein 1
Synonyms

A930003G21Rik, EPM2A (laforin) interacting protein 1, mKIAA0766

Feature Type

protein coding gene
IDs

MGI:1925031
NCBI Gene: 77781
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr9:111100997-111108161 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 60.92 cM
Mapping Data

1 experiment

SNPs within 2kb

252 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925031	protein coding gene	Chr9:111100913-111108161 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035372	protein coding gene	Chr9:113504682-113511841 (+)
A/J	MGP_AJ_G0035353	protein coding gene	Chr9:109347906-109355066 (+)
AKR/J	MGP_AKRJ_G0035284	protein coding gene	Chr9:112077089-112084251 (+)
BALB/cJ	MGP_BALBcJ_G0035348	protein coding gene	Chr9:109097080-109104242 (+)
C3H/HeJ	MGP_C3HHeJ_G0035056	protein coding gene	Chr9:112575708-112582870 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035870	protein coding gene	Chr9:116614002-116621166 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032756	protein coding gene	Chr9:106550670-106557866 (+)
CAST/EiJ	MGP_CASTEiJ_G0034362	protein coding gene	Chr9:112374850-112382020 (+)
CBA/J	MGP_CBAJ_G0035023	protein coding gene	Chr9:120921218-120928377 (+)
DBA/2J	MGP_DBA2J_G0035182	protein coding gene	Chr9:108796216-108803378 (+)
FVB/NJ	MGP_FVBNJ_G0035129	protein coding gene	Chr9:107636997-107644159 (+)
LP/J	MGP_LPJ_G0035261	protein coding gene	Chr9:113774807-113781966 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035169	protein coding gene	Chr9:122213410-122220572 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035890	protein coding gene	Chr9:112425849-112433013 (+)
PWK/PhJ	MGP_PWKPhJ_G0034069	protein coding gene	Chr9:109050455-109057614 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033904	protein coding gene	Chr9:112517398-112524577 (+)
WSB/EiJ	MGP_WSBEiJ_G0034483	protein coding gene	Chr9:112285857-112293021 (+)

Human Ortholog

EPM2AIP1, EPM2A interacting protein 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPM2AIP1, EPM2A interacting protein 1
Links

HGNC:19735

NCBI Gene ID: 9852

neXtProt AC: NX_Q7L775

UniProt: Q7L775
Chr Location

3p22.2; chr3:36985043-36993131 (-) GRCh38

MGI Vertebrate Homology

Epm2aip1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: EPM2AIP1
Gene Tree

Epm2aip1

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
2 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

1
Gene trapped

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trapped allele exhibit increased anxiety-related response, decreased liver glycogen storage and synthesis, hepatic steatosis, improved glucose tolerance and decreased hepatic insulin resistance.

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All GO Annotations

11
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

710
Tissues

4
cDNA Data

134
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

46
RefSeq

2
UniProt

1
CCDS

CCDS40785.1

Ensembl

ENSMUSG00000046785 (Evidence)
NCBI Gene

77781

			Length	Strain/Species	Flank
genomic	ENSMUSG00000046785	Ensembl Gene Model \| MGI Sequence Detail	7165	C57BL/6J	± kb
transcript	ENSMUST00000060711	Ensembl \| MGI Sequence Detail	7149	Not Applicable
polypeptide	ENSMUSP00000052904	Ensembl \| MGI Sequence Detail	606	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007137 EPM2A-interacting protein 1

(term hierarchy)
InterPro Domains

IPR026630 EPM2A-interacting protein 1/ZBED8-like

IPR040647 SPIN-DOC-like, zinc-finger

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All nucleic 134

cDNA 134

Microarray probesets 7

Summaries

All 31

Developmental Gene Expression 4

Gene Ontology 5

Phenotypes 2
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:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Epm2aip1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr87495	Chr9:111100880-111100891 (+)	-111 bp
Tssr87496	Chr9:111100900-111100982 (+)	-56 bp
Tssr87497	Chr9:111100988-111101011 (+)	3 bp
Tssr87498	Chr9:111101018-111101031 (+)	28 bp
Tssr87499	Chr9:111104817-111104838 (+)	3,831 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)
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