Smarca2 MGI Mouse Gene Detail - MGI:99603 - SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

About Help FAQ

Smarca2 Gene Detail

Symbol

Smarca2
Name

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
Synonyms

2610209L14Rik, brm, Snf2l2

Feature Type

protein coding gene
IDs

MGI:99603
NCBI Gene: 67155
Alliance

gene page
Transcription Start Sites

22 TSS

more

Sequence Map

Chr19:26582578-26755721 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 21.17 cM, cytoband C1
Mapping Data

4 experiments

more

SNPs within 2kb

5210 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_99603	protein coding gene	Chr19:26582450-26755722 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025005	protein coding gene	Chr19:24929119-25122998 (+)
A/J	MGP_AJ_G0024982	protein coding gene	Chr19:23616863-23796311 (+)
AKR/J	MGP_AKRJ_G0024950	protein coding gene	Chr19:24499722-24694440 (+)
BALB/cJ	MGP_BALBcJ_G0024981	protein coding gene	Chr19:23678390-23856227 (+)
C3H/HeJ	MGP_C3HHeJ_G0024737	protein coding gene	Chr19:24490316-24676848 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025422	protein coding gene	Chr19:25651828-25843274 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022841	protein coding gene	Chr19:23686904-23857614 (+)
CAST/EiJ	MGP_CASTEiJ_G0024207	protein coding gene	Chr19:24228145-24418041 (+)
CBA/J	MGP_CBAJ_G0024715	protein coding gene	Chr19:26845624-27045297 (+)
DBA/2J	MGP_DBA2J_G0024847	protein coding gene	Chr19:23605374-23784748 (+)
FVB/NJ	MGP_FVBNJ_G0024809	protein coding gene	Chr19:23455381-23632994 (+)
LP/J	MGP_LPJ_G0024932	protein coding gene	Chr19:24905468-25101448 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024836	protein coding gene	Chr19:26800351-26993279 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025477	protein coding gene	Chr19:24523261-24713047 (+)
PWK/PhJ	MGP_PWKPhJ_G0023955	protein coding gene	Chr19:23235922-23480886 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023759	protein coding gene	Chr19:23759522-24010351 (+)
WSB/EiJ	MGP_WSBEiJ_G0024274	protein coding gene	Chr19:24536306-24731509 (+)

more

Human Ortholog

SMARCA2, SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SMARCA2, SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
Synonyms

BAF190, BIS, BRM, hBRM, hSNF2a, NCBRS, SNF2, SNF2L2, SNF2LA, Sth1p, SWI2
Links

HGNC:11098

NCBI Gene ID: 6595

neXtProt AC: NX_P51531

UniProt: P51531
Chr Location

9p24.3; chr9:1980290-2193624 (+) GRCh38

MGI Vertebrate Homology

Smarca2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SMARCA2
Gene Tree

Smarca2

more

Diseases

2 with human SMARCA2 associations

				Human Disease	Mouse Models
				blepharophimosis-impaired intellectual development syndrome IDs blepharophimosis-impaired intellectual development syndrome DOID:0081442 OMIM:619293 ORDO:637013
				Nicolaides-Baraitser syndrome IDs Nicolaides-Baraitser syndrome DOID:0081441 OMIM:601358 ORDO:3051

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

less

Phenotype Summary

8 phenotypes from 2 alleles in 3 genetic backgrounds
20 phenotypes from multigenic genotypes
28 phenotype references

Phenotype Overview

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
Endonuclease-mediated

4
Gene trapped

1
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

90 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted mutation in this gene may exhibit infertility and a slightly increased body weight in some genetic backgrounds.

less

All GO Annotations

64
GO References

35

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

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

931
Tissues

84
cDNA Data

120
Literature Summary

35

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SMARCA2

Xenbase smarca2

less

All Sequences

201
RefSeq

50
UniProt

36
CCDS

CCDS29720.1, CCDS37945.1, CCDS84428.1

Ensembl

ENSMUSG00000024921 (Evidence)
NCBI Gene

67155

Representative Sequences				Length	Strain/Species	Flank
	genomic	67155	NCBI Gene Model \| MGI Sequence Detail	173144	C57BL/6J	± kb
	transcript	NM_001405134	RefSeq \| MGI Sequence Detail	6618	ZRU/MplStud
	polypeptide	Q6DIC0	UniProt \| EBI \| MGI Sequence Detail	1577	Not Applicable

less

UniProt

36 Sequences
Protein Ontology

PR:000029762 probable global transcription activator SNF2L2

(term hierarchy)
EC

3.6.4.-
InterPro Domains

IPR006576 BRK domain

IPR037259 BRK domain superfamily

IPR001487 Bromodomain

IPR018359 Bromodomain, conserved site

IPR036427 Bromodomain-like superfamily

IPR014978 Glutamine-Leucine-Glutamine, QLQ

IPR001650 Helicase, C-terminal domain-like

IPR014012 Helicase/SANT-associated domain

IPR014001 Helicase superfamily 1/2, ATP-binding domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR037382 Remodelling complex subunit Rsc/polybromo

IPR029295 Snf2, ATP coupling domain

IPR038718 SNF2-like, N-terminal domain superfamily

IPR000330 SNF2, N-terminal

IPR049730 SNF2/RAD5-like, C-terminal helicase domain

IPR037651 SWR1-complex protein 3

less

All nucleic 133

cDNA 124

Primer pair 9

Microarray probesets 3

less

MGD-MRK-16388, MGI:1914405

more

Summaries

All 128

Developmental Gene Expression 35

Gene Ontology 35

Phenotypes 28
Earliest

J:320308 Valka I, et al., Separation and Quantification of Some Alkaloids from Fumaria parviflora by Capillary Isotachophoresis1. Planta Med. 1985 Aug;51(4):319-22
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Smarca2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr155705	Chr19:26582506-26582517 (+)	-66 bp
Tssr155706	Chr19:26582525-26582556 (+)	-37 bp
Tssr155707	Chr19:26582564-26582585 (+)	-3 bp
Tssr155708	Chr19:26582591-26582596 (+)	16 bp
Tssr155709	Chr19:26583833-26583857 (+)	1,267 bp
Tssr155710	Chr19:26584011-26584039 (+)	1,447 bp
Tssr155711	Chr19:26584136-26584209 (+)	1,595 bp
Tssr155712	Chr19:26584582-26584626 (+)	2,026 bp
Tssr155713	Chr19:26584631-26584656 (+)	2,066 bp
Tssr155714	Chr19:26584775-26584810 (+)	2,215 bp
Tssr155715	Chr19:26584839-26584897 (+)	2,290 bp
Tssr155716	Chr19:26599383-26599387 (+)	16,807 bp
Tssr155717	Chr19:26600801-26600818 (+)	18,232 bp
Tssr155718	Chr19:26600819-26600871 (+)	18,267 bp
Tssr155719	Chr19:26601341-26601360 (+)	18,773 bp
Tssr155720	Chr19:26725790-26725874 (+)	143,254 bp
Tssr155721	Chr19:26727238-26727277 (+)	144,680 bp
Tssr155722	Chr19:26727283-26727318 (+)	144,723 bp
Tssr155723	Chr19:26728354-26728367 (+)	145,783 bp
Tssr155724	Chr19:26730988-26731003 (+)	148,418 bp
Tssr155725	Chr19:26731052-26731062 (+)	148,479 bp
Tssr155726	Chr19:26748326-26748356 (+)	165,763 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