Actn2 MGI Mouse Gene Detail - MGI:109192

Symbol

Actn2
Name

actinin alpha 2
Synonyms

1110008F24Rik

Feature Type

protein coding gene
IDs

MGI:109192
NCBI Gene: 11472
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr13:12284312-12355613 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 4.54 cM
Mapping Data

5 experiments

SNPs within 2kb

2186 from dbSNP Build 142
Strain Annotations

18
PCR

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109192	protein coding gene	Chr13:12284312-12355641 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020229	protein coding gene	Chr13:9011949-9087865 (-)
A/J	MGP_AJ_G0020185	protein coding gene	Chr13:8854116-8926722 (-)
AKR/J	MGP_AKRJ_G0020160	protein coding gene	Chr13:9048222-9120966 (-)
BALB/cJ	MGP_BALBcJ_G0020168	protein coding gene	Chr13:8840501-8912534 (-)
C3H/HeJ	MGP_C3HHeJ_G0019972	protein coding gene	Chr13:9181308-9254966 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020615	protein coding gene	Chr13:9442621-9518827 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018222	protein coding gene	Chr13:8680878-8751836 (-)
CAST/EiJ	MGP_CASTEiJ_G0019510	protein coding gene	Chr13:8878824-8960129 (-)
CBA/J	MGP_CBAJ_G0019939	protein coding gene	Chr13:9692806-9768348 (-)
DBA/2J	MGP_DBA2J_G0020056	protein coding gene	Chr13:8672795-8745805 (-)
FVB/NJ	MGP_FVBNJ_G0020041	protein coding gene	Chr13:8481614-8559845 (-)
LP/J	MGP_LPJ_G0020130	protein coding gene	Chr13:9117581-9193380 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020077	protein coding gene	Chr13:9987252-10060942 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020643	protein coding gene	Chr13:8940439-9018241 (-)
PWK/PhJ	MGP_PWKPhJ_G0019273	protein coding gene	Chr13:8708422-8781885 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019080	protein coding gene	Chr13:8931270-9002015 (-)
WSB/EiJ	MGP_WSBEiJ_G0019570	protein coding gene	Chr13:8907084-8984934 (-)

Human Ortholog

ACTN2, actinin alpha 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ACTN2, actinin alpha 2
Synonyms

CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ
Links

HGNC:164

NCBI Gene ID: 88

neXtProt AC: NX_P35609

UniProt: P35609
Chr Location

1q43; chr1:236664141-236764631 (+) GRCh38

MGI Vertebrate Homology

Actn2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ACTN2
Gene Tree

Actn2

Diseases

3 with human ACTN2 associations

				Human Disease	Mouse Models
				arrhythmogenic right ventricular cardiomyopathy IDs arrhythmogenic right ventricular cardiomyopathy DOID:0050431 MESH:D019571 NCI:C84571 OMIM:PS107970 ORDO:217656 ORDO:247 UMLS_CUI:C0349788
				congenital myopathy 8 IDs congenital myopathy 8 DOID:0081342 OMIM:618654
				dilated cardiomyopathy 1AA IDs dilated cardiomyopathy 1AA DOID:0110428 ICD10CM:I42.0 OMIM:612158

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

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Phenotype Summary

17 phenotypes from 1 allele in 1 genetic background
9 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

19
Endonuclease-mediated

2
Gene trapped

12
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

58 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

90
GO References

28

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

895
Tissues

139
cDNA Data

114
Literature Summary

96

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase actn2

ZFIN actn2b

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All Sequences

45
RefSeq

4
UniProt

5
CCDS

CCDS26239.1

Ensembl

ENSMUSG00000052374 (Evidence)
NCBI Gene

11472

			Length	Strain/Species	Flank
genomic	11472	NCBI Gene Model \| MGI Sequence Detail	71302	C57BL/6J	± kb
transcript	NM_033268	RefSeq \| MGI Sequence Detail	3091	Not Specified
polypeptide	Q9JI91	UniProt \| EBI \| MGI Sequence Detail	894	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000003689 alpha-actinin-2

(term hierarchy)
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR014837 EF-hand, Ca insensitive

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat
GlyGen

Q9JI91 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 124

Genomic 3

cDNA 114

Primer pair 7

Microarray probesets 2

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MGD-MRK-38236, MGI:1920965

Summaries

All 158

Developmental Gene Expression 96

Gene Ontology 28

Phenotypes 9
Earliest

J:29279 Patapoutian A, et al., Disruption of the mouse MRF4 gene identifies multiple waves of myogenesis in the myotome. Development. 1995 Oct;121(10):3347-58
Latest

J:349860 Hashimoto K, et al., Loss of connectin novex-3 leads to heart dysfunction associated with impaired cardiomyocyte proliferation and abnormal nuclear mechanics. Sci Rep. 2024 Jun 14;14(1):13727

TSS for Actn2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr121449	Chr13:12355604-12355620 (-)	1 bp
Tssr121448	Chr13:12355391-12355426 (-)	204 bp
Tssr121447	Chr13:12351428-12351452 (-)	4,173 bp
Tssr121446	Chr13:12347296-12347317 (-)	8,306 bp
Tssr121445	Chr13:12347077-12347095 (-)	8,527 bp
Tssr121444	Chr13:12346940-12346985 (-)	8,650 bp
Tssr121443	Chr13:12324591-12324603 (-)	31,016 bp
Tssr121442	Chr13:12321542-12321544 (-)	34,070 bp
Tssr121441	Chr13:12306658-12306692 (-)	48,938 bp
Tssr121440	Chr13:12293823-12293834 (-)	61,784 bp
Tssr121439	Chr13:12293795-12293818 (-)	61,806 bp
Tssr121438	Chr13:12290582-12290585 (-)	65,029 bp
Tssr121437	Chr13:12289022-12289042 (-)	66,581 bp
Tssr121436	Chr13:12289002-12289012 (-)	66,606 bp
Tssr121435	Chr13:12288956-12288994 (-)	66,638 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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