Cmya5 MGI Mouse Gene Detail - MGI:1923719 - cardiomyopathy associated 5

Symbol

Cmya5
Name

cardiomyopathy associated 5
Synonyms

2310076E16Rik, 2310076E21Rik, Myospryn

Feature Type

protein coding gene
IDs

MGI:1923719
NCBI Gene: 76469
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr13:93177221-93281232 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 47.81 cM, cytoband C3
Mapping Data

3 experiments

SNPs within 2kb

2898 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923719	protein coding gene	Chr13:93177221-93281278 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020822	protein coding gene	Chr13:94368453-94478591 (-)
A/J	MGP_AJ_G0020776	protein coding gene	Chr13:90866306-90964712 (-)
AKR/J	MGP_AKRJ_G0020749	protein coding gene	Chr13:93618015-93731273 (-)
BALB/cJ	MGP_BALBcJ_G0020772	protein coding gene	Chr13:91513203-91623907 (-)
C3H/HeJ	MGP_C3HHeJ_G0020566	protein coding gene	Chr13:93325452-93427176 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021209	protein coding gene	Chr13:97245260-97360826 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018776	protein coding gene	Chr13:86774435-86869045 (-)
CAST/EiJ	MGP_CASTEiJ_G0020085	protein coding gene	Chr13:92592625-92692151 (-)
CBA/J	MGP_CBAJ_G0020525	protein coding gene	Chr13:101091596-101209088 (-)
DBA/2J	MGP_DBA2J_G0020650	protein coding gene	Chr13:90644280-90753933 (-)
FVB/NJ	MGP_FVBNJ_G0020630	protein coding gene	Chr13:89448994-89549917 (-)
LP/J	MGP_LPJ_G0020723	protein coding gene	Chr13:94485421-94591282 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020659	protein coding gene	Chr13:101573650-101688482 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021249	protein coding gene	Chr13:93016502-93129064 (-)
PWK/PhJ	MGP_PWKPhJ_G0019837	protein coding gene	Chr13:89359996-89455292 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019661	protein coding gene	Chr13:89300714-89399660 (-)
WSB/EiJ	MGP_WSBEiJ_G0020142	protein coding gene	Chr13:93513490-93619694 (-)

Human Ortholog

CMYA5, cardiomyopathy associated 5

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CMYA5, cardiomyopathy associated 5
Synonyms

C5orf10, SPRYD2, TRIM76
Links

HGNC:14305

NCBI Gene ID: 202333

neXtProt AC: NX_Q8N3K9

UniProt: Q8N3K9
Chr Location

5q14.1

MGI Vertebrate Homology

Cmya5 stringent orthology
1 human;1 mouse;1 zebrafish
HCOP

vertebrate homology predictions: CMYA5
Gene Tree

Cmya5

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Phenotype Summary

24 phenotypes from 2 alleles in 2 genetic backgrounds
10 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

5
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

1
Genomic Mutations

1 involving Cmya5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

148 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit impaired cardiac structure and function, more severe in female mice, and male mice exhibit schizophrenia-associated symptoms.

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All GO Annotations

20
GO References

9

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

742
Tissues

25
cDNA Data

18
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN cmya5

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All Sequences

39
RefSeq

6
UniProt

2
CCDS

CCDS49329.1

Ensembl

ENSMUSG00000047419 (Evidence)
NCBI Gene

76469

			Length	Strain/Species	Flank
genomic	ENSMUSG00000047419	Ensembl Gene Model \| MGI Sequence Detail	104012	C57BL/6J	± kb
transcript	ENSMUST00000062122	Ensembl \| MGI Sequence Detail	11850	Not Applicable
polypeptide	ENSMUSP00000050408	Ensembl \| MGI Sequence Detail	3676	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005626 cardiomyopathy-associated protein 5

(term hierarchy)
InterPro Domains

IPR001870 B30.2/SPRY domain

IPR043136 B30.2/SPRY domain superfamily

IPR013320 Concanavalin A-like lectin/glucanase domain superfamily

IPR050617 E3 ubiquitin-protein ligases and FN3/SPRY domain-containing proteins

IPR003961 Fibronectin type III

IPR036116 Fibronectin type III superfamily

IPR013783 Immunoglobulin-like fold

IPR003877 SPRY domain
GlyGen

Q70KF4 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 22

cDNA 20

Primer pair 2

Microarray probesets 3

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MGI:1919644, MGI:2145162, MGI:2145263

Summaries

All 45

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 10
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:358080 Lu F, et al., Virally delivered CMYA5 enhances the assembly of cardiac dyads. Nat Biomed Eng. 2024 Sep 5;

TSS for Cmya5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr123447	Chr13:93281065-93281085 (-)	157 bp
Tssr123446	Chr13:93230263-93230285 (-)	50,958 bp
Tssr123445	Chr13:93228989-93228992 (-)	52,241 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 12/10/2024 MGI 6.24