Stac3 MGI Mouse Gene Detail - MGI:3606571 - SH3 and cysteine rich domain 3

Symbol

Stac3
Name

SH3 and cysteine rich domain 3

Feature Type

protein coding gene
IDs

MGI:3606571
NCBI Gene: 237611
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr10:127337555-127344692 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 74.50 cM
Mapping Data

1 experiment

SNPs within 2kb

227 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3606571	protein coding gene	Chr10:127337505-127344692 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017823	protein coding gene	Chr10:131121872-131129009 (+)
A/J	MGP_AJ_G0017798	protein coding gene	Chr10:125870032-125877181 (+)
AKR/J	MGP_AKRJ_G0017761	protein coding gene	Chr10:129582362-129589499 (+)
BALB/cJ	MGP_BALBcJ_G0017762	protein coding gene	Chr10:126272599-126279748 (+)
C3H/HeJ	MGP_C3HHeJ_G0017586	protein coding gene	Chr10:129735400-129742797 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018217	protein coding gene	Chr10:135562931-135570068 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015897	protein coding gene	Chr10:119857381-119863449 (+)
CAST/EiJ	MGP_CASTEiJ_G0017146	protein coding gene	Chr10:130392283-130399749 (+)
CBA/J	MGP_CBAJ_G0017555	protein coding gene	Chr10:141031348-141038745 (+)
DBA/2J	MGP_DBA2J_G0017661	protein coding gene	Chr10:124944847-124952238 (+)
FVB/NJ	MGP_FVBNJ_G0017656	protein coding gene	Chr10:123884613-123891762 (+)
LP/J	MGP_LPJ_G0017735	protein coding gene	Chr10:131692288-131699425 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017684	protein coding gene	Chr10:143727071-143734220 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018257	protein coding gene	Chr10:129650685-129658076 (+)
PWK/PhJ	MGP_PWKPhJ_G0016931	protein coding gene	Chr10:125150398-125157794 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016723	protein coding gene	Chr10:128689419-128696945 (+)
WSB/EiJ	MGP_WSBEiJ_G0017207	protein coding gene	Chr10:129877158-129884551 (+)

Human Ortholog

STAC3, SH3 and cysteine rich domain 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

STAC3, SH3 and cysteine rich domain 3
Synonyms

CMYO13, CMYP13, MYPBB, NAM
Links

HGNC:28423

NCBI Gene ID: 246329

neXtProt AC: NX_Q96MF2

UniProt: Q96MF2
Chr Location

12q13.3; chr12:57243453-57251188 (-) GRCh38

MGI Vertebrate Homology

Stac3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: STAC3
Gene Tree

Stac3

Diseases

1 with human STAC3 associations

				Human Disease	Mouse Models
				Native American myopathy IDs Native American myopathy DOID:0060346 MESH:C538343 OMIM:255995 ORDO:168572 UMLS_CUI:C1850625

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

less

Phenotype Summary

39 phenotypes from 1 allele in 2 genetic backgrounds
7 images
8 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

4
Endonuclease-mediated

1
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous inactivation of this gene leads to neonatal lethality, abnormal posture, thin diaphragm muscle, abnormal skeletal muscle morphology characterized by centralized nuclei and disorganized myofibrils, and impaired skeletal muscle contractility due to defective excitation-contraction coupling.

less

All GO Annotations

20
GO References

11

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.

less

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

750
Tissues

22
cDNA Data

9
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase stac3

ZFIN stac3

less

All Sequences

39
RefSeq

6
UniProt

2
CCDS

CCDS24242.1

Ensembl

ENSMUSG00000040287 (Evidence)
NCBI Gene

237611

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040287	Ensembl Gene Model \| MGI Sequence Detail	7138	C57BL/6J	± kb
transcript	ENSMUST00000160019	Ensembl \| MGI Sequence Detail	1581	Not Applicable
polypeptide	ENSMUSP00000125124	Ensembl \| MGI Sequence Detail	360	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000030709 SH3 and cysteine-rich domain-containing protein 3

(term hierarchy)
InterPro Domains

IPR046349 C1-like domain superfamily

IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR039688 STAC1/2/3

IPR035736 Stac3, first SH3 domain

less

All nucleic 10

cDNA 9

Primer pair 1

Microarray probesets 2

Summaries

All 32

Developmental Gene Expression 4

Gene Ontology 11

Phenotypes 8
Earliest

J:162220 Magdaleno S, et al., BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. PLoS Biol. 2006 Apr;4(4):e86
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Stac3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr96220	Chr10:127337541-127337575 (+)	3 bp
Tssr96221	Chr10:127337576-127337595 (+)	31 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