Epyc MGI Mouse Gene Detail - MGI:107942

Symbol

Epyc
Name

epiphycan
Synonyms

Dspg3, epiphycan, PG-Lb, SLRR3B

Feature Type

protein coding gene
IDs

MGI:107942
NCBI Gene: 13516
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr10:97479930-97517770 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 50.35 cM, cytoband C2-C3
Mapping Data

4 experiments

SNPs within 2kb

1396 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107942	protein coding gene	Chr10:97479930-97518316 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017678	protein coding gene	Chr10:99386102-99426678 (+)
A/J	MGP_AJ_G0017657	protein coding gene	Chr10:95813159-95852196 (+)
AKR/J	MGP_AKRJ_G0017617	protein coding gene	Chr10:98533574-98574312 (+)
BALB/cJ	MGP_BALBcJ_G0017621	protein coding gene	Chr10:96113057-96147511 (+)
C3H/HeJ	MGP_C3HHeJ_G0017444	protein coding gene	Chr10:98571544-98607214 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018077	protein coding gene	Chr10:102823034-102859609 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015759	protein coding gene	Chr10:91322717-91354572 (+)
CAST/EiJ	MGP_CASTEiJ_G0017007	protein coding gene	Chr10:98636723-98672885 (+)
CBA/J	MGP_CBAJ_G0017413	protein coding gene	Chr10:106857860-106895882 (+)
DBA/2J	MGP_DBA2J_G0017519	protein coding gene	Chr10:94882919-94916876 (+)
FVB/NJ	MGP_FVBNJ_G0017512	protein coding gene	Chr10:94144574-94177971 (+)
LP/J	MGP_LPJ_G0017593	protein coding gene	Chr10:99976886-100014180 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017542	protein coding gene	Chr10:108014848-108069297 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018115	protein coding gene	Chr10:98468140-98507448 (+)
PWK/PhJ	MGP_PWKPhJ_G0016789	protein coding gene	Chr10:95039842-95075318 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016578	protein coding gene	Chr10:97345371-97385487 (+)
WSB/EiJ	MGP_WSBEiJ_G0017067	protein coding gene	Chr10:98482635-98518985 (+)

Human Ortholog

EPYC, epiphycan

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPYC, epiphycan
Synonyms

DSPG3, Pg-Lb, PGLB, SLRR3B
Links

HGNC:3053

NCBI Gene ID: 1833

neXtProt AC: NX_Q99645

UniProt: Q99645
Chr Location

12q21.33; chr12:90963682-91005026 (-) GRCh38

MGI Vertebrate Homology

Epyc stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EPYC
Gene Tree

Epyc

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Phenotype Summary

3 phenotypes from 2 alleles in 2 genetic backgrounds
5 phenotypes from multigenic genotypes
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

9
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

5
Genomic Mutations

1 involving Epyc
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a knock-out exhibit short femurs and borderline osteoarthritis at 9 months of age. Another null mouse shows elevated hearing thresholds.

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All GO Annotations

9
GO References

4

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

920
Tissues

66
cDNA Data

38
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase epyc

ZFIN epyc

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All Sequences

38
RefSeq

4
UniProt

3
CCDS

CCDS24143.1

Ensembl

ENSMUSG00000019936 (Evidence)
NCBI Gene

13516

			Length	Strain/Species	Flank
genomic	13516	NCBI Gene Model \| MGI Sequence Detail	37841	C57BL/6J	± kb
transcript	NM_001379456	RefSeq \| MGI Sequence Detail	1979	ZRU/MplStud
polypeptide	P70186	UniProt \| EBI \| MGI Sequence Detail	322	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000007153 epiphycan

(term hierarchy)
InterPro Domains

IPR001611 Leucine-rich repeat

IPR032675 Leucine-rich repeat domain superfamily

IPR000372 Leucine-rich repeat N-terminal domain

IPR003591 Leucine-rich repeat, typical subtype

IPR043547 Mimecan/Epiphycan/Opticin
GlyGen

P70186 4 sites

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All nucleic 44

Genomic 4

cDNA 38

Primer pair 1

Other 1

Microarray probesets 3

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MGD-MRK-36522

Summaries

All 48

Developmental Gene Expression 13

Gene Ontology 4

Phenotypes 11
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:343328 Xie Z, et al., ZBTB20 is essential for cochlear maturation and hearing in mice. Proc Natl Acad Sci U S A. 2023 Jun 13;120(24):e2220867120

TSS for Epyc:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr95495	Chr10:97482847-97482860 (+)	2,924 bp
Tssr95496	Chr10:97482946-97482975 (+)	3,031 bp
Tssr95497	Chr10:97482981-97482992 (+)	3,057 bp
Tssr95498	Chr10:97483007-97483018 (+)	3,083 bp
Tssr95499	Chr10:97483268-97483298 (+)	3,353 bp
Tssr95500	Chr10:97485680-97485687 (+)	5,754 bp
Tssr95501	Chr10:97510603-97510612 (+)	30,678 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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