Syne2 MGI Mouse Gene Detail - MGI:2449316 - spectrin repeat containing, nuclear envelope 2

Symbol

Syne2
Name

spectrin repeat containing, nuclear envelope 2
Synonyms

6820443O06Rik, Cpfl8, D12Ertd777e, dice, diminished cone electroretinogram, mKIAA1011, Nesp2g, nesprin-2, syne-2

Feature Type

protein coding gene
IDs

MGI:2449316
NCBI Gene: 319565
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr12:75865092-76157702 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 33.11 cM
Mapping Data

3 experiments

SNPs within 2kb

9565 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2449316	protein coding gene	Chr12:75864908-76157702 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019851	protein coding gene	Chr12:75871204-76186104 (+)
A/J	MGP_AJ_G0019809	protein coding gene	Chr12:73020382-73318470 (+)
AKR/J	MGP_AKRJ_G0019784	protein coding gene	Chr12:75229830-75528026 (+)
BALB/cJ	MGP_BALBcJ_G0019788	protein coding gene	Chr12:73479920-73775524 (+)
C3H/HeJ	MGP_C3HHeJ_G0019594	protein coding gene	Chr12:75685080-75988805 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020240	protein coding gene	Chr12:78234860-78543963 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017858	protein coding gene	Chr12:70357303-70658963 (+)
CAST/EiJ	MGP_CASTEiJ_G0019145	protein coding gene	Chr12:70477461-70785937 (+)
CBA/J	MGP_CBAJ_G0019564	protein coding gene	Chr12:81236942-81564349 (+)
DBA/2J	MGP_DBA2J_G0019680	protein coding gene	Chr12:72876373-73170936 (+)
FVB/NJ	MGP_FVBNJ_G0019667	protein coding gene	Chr12:71706183-72002824 (+)
LP/J	MGP_LPJ_G0019752	protein coding gene	Chr12:75867448-76178808 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019706	protein coding gene	Chr12:84281231-84595280 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020276	protein coding gene	Chr12:74702900-75004105 (+)
PWK/PhJ	MGP_PWKPhJ_G0018911	protein coding gene	Chr12:67229961-67535663 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018705	protein coding gene	Chr12:69189821-69504479 (+)
WSB/EiJ	MGP_WSBEiJ_G0019197	protein coding gene	Chr12:75308807-75613137 (+)

Human Ortholog

SYNE2, spectrin repeat containing nuclear envelope protein 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SYNE2, spectrin repeat containing nuclear envelope protein 2
Synonyms

EDMD5, KASH2, Nesp2, Nesprin-2, NUA, NUANCE, SYNE-2, TROPH
Links

HGNC:17084

NCBI Gene ID: 23224

neXtProt AC: NX_Q8WXH0

UniProt: Q8WXH0
Chr Location

14q23.2; chr14:63761596-64226449 (+) GRCh38

MGI Vertebrate Homology

Syne2 stringent orthology
1 human;1 mouse;2 zebrafish
HCOP

vertebrate homology predictions: SYNE2
Gene Tree

Syne2

Diseases

1 with human SYNE2 associations

				Human Disease	Mouse Models
				autosomal dominant Emery-Dreifuss muscular dystrophy 5 IDs autosomal dominant Emery-Dreifuss muscular dystrophy 5 DOID:0070250 OMIM:612999

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

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Phenotype Summary

30 phenotypes from 7 alleles in 7 genetic backgrounds
14 phenotypes from multigenic genotypes
1 images
17 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

13
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

2
Spontaneous

3
Targeted

4
Transgenic

1
Genomic Mutations

1 involving Syne2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

297 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture inprimary dermal fibroblasts and keratinocytes. Mice homozygous for spontaneous mutations exhibit early retinal defects in photoreceptors, secondary neurons, and muller glia.

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All GO Annotations

44
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

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

903
Tissues

128
cDNA Data

156
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase syne2

ZFIN syne2a, syne2b

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All Sequences

94
RefSeq

2
UniProt

18
CCDS

CCDS49091.1

Ensembl

ENSMUSG00000063450 (Evidence)
NCBI Gene

319565

			Length	Strain/Species	Flank
genomic	319565	NCBI Gene Model \| MGI Sequence Detail	292611	C57BL/6J	± kb
transcript	NM_001005510	RefSeq \| MGI Sequence Detail	21718	Not Specified
polypeptide	Q6ZWQ0	UniProt \| EBI \| MGI Sequence Detail	6874	Not Applicable

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UniProt

18 Sequences
Protein Ontology

PR:000015876 nesprin-2

(term hierarchy)
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR012315 KASH domain

IPR039906 Nuclear anchorage protein 1/Nesprin-1/2-like

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat
GlyGen

Q6ZWQ0 7 sites, 4 N-linked glycans (4 sites), 1 O-linked glycan (3 sites)

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All nucleic 161

cDNA 156

Primer pair 5

Microarray probesets 8

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MGI:1289287, MGI:2145039, MGI:2442286, MGI:3606160

Summaries

All 76

Developmental Gene Expression 15

Gene Ontology 14

Phenotypes 17
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:347982 Li C, et al., Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere. J Biol Chem. 2024 Apr 2;300(5):107254

TSS for Syne2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113914	Chr12:75865068-75865130 (+)	7 bp
Tssr113915	Chr12:75865150-75865159 (+)	63 bp
Tssr113916	Chr12:75900622-75900666 (+)	35,552 bp
Tssr113917	Chr12:75926893-75926926 (+)	61,818 bp
Tssr113918	Chr12:76007158-76007172 (+)	142,073 bp
Tssr113919	Chr12:76030442-76030454 (+)	165,356 bp
Tssr113920	Chr12:76030465-76030470 (+)	165,376 bp
Tssr113921	Chr12:76030662-76030672 (+)	165,575 bp
Tssr113922	Chr12:76051983-76052023 (+)	186,911 bp
Tssr113923	Chr12:76096463-76096468 (+)	231,374 bp
Tssr113924	Chr12:76118803-76118853 (+)	253,736 bp
Tssr113925	Chr12:76118945-76118952 (+)	253,857 bp
Tssr3865	Chr12:76119009-76119019 (+)	253,922 bp
Tssr113926	Chr12:76126340-76126343 (+)	261,250 bp
Tssr113927	Chr12:76128419-76128435 (+)	263,335 bp
Tssr113928	Chr12:76133493-76133523 (+)	268,416 bp
Tssr113929	Chr12:76133637-76133652 (+)	268,553 bp
Tssr113930	Chr12:76151613-76151638 (+)	286,534 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