Smtn MGI Mouse Gene Detail - MGI:1354727

Symbol

Smtn
Name

smoothelin

Feature Type

protein coding gene
IDs

MGI:1354727
NCBI Gene: 29856
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr11:3467522-3489337 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 2.47 cM, cytoband A2-A3
Mapping Data

2 experiments

SNPs within 2kb

453 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1354727	protein coding gene	Chr11:3467522-3490612 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017961	protein coding gene	Chr11:391744-414826 (-)
A/J	MGP_AJ_G0017934	protein coding gene	Chr11:435111-458258 (-)
AKR/J	MGP_AKRJ_G0017898	protein coding gene	Chr11:452999-476079 (-)
BALB/cJ	MGP_BALBcJ_G0017902	protein coding gene	Chr11:408069-431153 (-)
C3H/HeJ	MGP_C3HHeJ_G0017715	protein coding gene	Chr11:391363-414451 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018355	protein coding gene	Chr11:465742-488829 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016014	protein coding gene	Chr11:344429-367405 (-)
CAST/EiJ	MGP_CASTEiJ_G0017277	protein coding gene	Chr11:343673-368951 (-)
CBA/J	MGP_CBAJ_G0017690	protein coding gene	Chr11:628799-651889 (-)
DBA/2J	MGP_DBA2J_G0017801	protein coding gene	Chr11:353712-376797 (-)
FVB/NJ	MGP_FVBNJ_G0017792	protein coding gene	Chr11:385080-408515 (-)
LP/J	MGP_LPJ_G0017871	protein coding gene	Chr11:489523-512610 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017818	protein coding gene	Chr11:374672-397763 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018394	protein coding gene	Chr11:466261-489342 (-)
PWK/PhJ	MGP_PWKPhJ_G0017057	protein coding gene	Chr11:329036-352195 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016853	protein coding gene	Chr11:419988-443006 (-)
WSB/EiJ	MGP_WSBEiJ_G0017331	protein coding gene	Chr11:341739-364821 (-)

Human Ortholog

SMTN, smoothelin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SMTN, smoothelin
Links

HGNC:11126

NCBI Gene ID: 6525

neXtProt AC: NX_P53814

UniProt: P53814
Chr Location

22q12.2; chr22:31064105-31104757 (+) GRCh38

MGI Vertebrate Homology

Smtn stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SMTN
Gene Tree

Smtn

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Phenotype Summary

25 phenotypes from 3 alleles in 3 genetic backgrounds
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

9
Chemically induced (ENU)

1
Endonuclease-mediated

2
Gene trapped

2
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

45 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions of both the A and B isoforms of this gene display partial postnatal lethality, impaired intestinal smooth muscle contractility and thus hampered intestinal transit and diverticulosis. Mice lacking only the B isoform appearnormal.

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All GO Annotations

6
GO References

3

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

847
Tissues

12
cDNA Data

114
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase smtn

ZFIN smtnb

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All Sequences

104
RefSeq

36
UniProt

6
CCDS

CCDS24366.1, CCDS70129.1

Ensembl

ENSMUSG00000020439 (Evidence)
NCBI Gene

29856

			Length	Strain/Species	Flank
genomic	29856	NCBI Gene Model \| MGI Sequence Detail	21816	C57BL/6J	± kb
transcript	NM_001284428	RefSeq \| MGI Sequence Detail	3406	C57BL/6
polypeptide	Q921U8	UniProt \| EBI \| MGI Sequence Detail	923	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000015302 smoothelin

(term hierarchy)
InterPro Domains

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR050540 F-actin Monooxygenase Mical

IPR022189 Smoothelin
GlyGen

Q921U8 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 116

cDNA 116

Microarray probesets 3

Summaries

All 39

Developmental Gene Expression 8

Gene Ontology 3

Phenotypes 9
Earliest

J:60544 Kramer J, et al., A novel isoform of the smooth muscle cell differentiation marker smoothelin [see comments] [published erratum appears in J Mol Med 1999 Apr;77(4):399]. J Mol Med. 1999 Feb;77(2):294-8
Latest

J:339855 Gannoun L, et al., Axon guidance genes control hepatic artery development. Development. 2023 Aug 15;150(16):dev201642

TSS for Smtn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106494	Chr11:3489228-3489267 (-)	89 bp
Tssr106493	Chr11:3483466-3483518 (-)	5,845 bp
Tssr106492	Chr11:3481559-3481572 (-)	7,771 bp
Tssr106491	Chr11:3481373-3481409 (-)	7,946 bp
Tssr106490	Chr11:3480046-3480065 (-)	9,281 bp
Tssr106489	Chr11:3480015-3480040 (-)	9,309 bp
Tssr106488	Chr11:3479907-3479925 (-)	9,421 bp
Tssr106487	Chr11:3479880-3479889 (-)	9,452 bp
Tssr106486	Chr11:3479556-3479592 (-)	9,763 bp
Tssr106485	Chr11:3477916-3477959 (-)	11,399 bp
Tssr106484	Chr11:3476451-3476477 (-)	12,873 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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