Tmtc3 MGI Mouse Gene Detail - MGI:3036255 - transmembrane and tetratricopeptide repeat containing 3

Tmtc3 Gene Detail

Symbol

Tmtc3
Name

transmembrane and tetratricopeptide repeat containing 3
Synonyms

9130014E20Rik, B130008E12Rik, mSmile

Feature Type

protein coding gene
IDs

MGI:3036255
NCBI Gene: 237500

Sequence Map

Chr10:100443902-100487350 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

43449 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 51.47 cM
Mapping Data

3 experiments

Human Ortholog

TMTC3, transmembrane and tetratricopeptide repeat containing 3

Vertebrate Orthologs

8

Human Ortholog

TMTC3, transmembrane and tetratricopeptide repeat containing 3
Orthology source: HomoloGene, HGNC
Synonyms

LIS8, SMILE
Links

HGNC:26899

NCBI Gene ID: 160418

neXtProt AC: NX_Q6ZXV5

UniProt: Q6ZXV5
Chr Location

12q21.32; chr12:88142296-88199887 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 27616
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish
HCOP

human homology predictions: TMTC3
Gene Tree

Tmtc3

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Phenotype Summary

10 phenotypes from 1 allele in 2 genetic backgrounds
15 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

10
Chemically induced (other)

1
Gene trapped

5
Targeted

4
Genomic Mutations

1 involving Tmtc3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

20 strains or lines available

Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice.

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All GO Annotations

12
GO References

3

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

56
Tissues

22
cDNA Data

51
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmtc3

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Tmtc3 interacts with 358 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

50
RefSeq

14
UniProt

5
CCDS

CCDS24150.1, CCDS48684.1
UniGene

296805

			Length	Strain/Species	Flank
genomic	OTTMUSG00000034150	VEGA Gene Model \| MGI Sequence Detail	43449	C57BL/6J	± kb
transcript	OTTMUST00000086496	VEGA \| MGI Sequence Detail	5993	Not Applicable
polypeptide	OTTMUSP00000046846	VEGA \| MGI Sequence Detail	920	Not Applicable

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SNPs within 2kb

513 from dbSNP Build 142

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UniProt

5 Sequences
Protein Ontology

PR:000029817 transmembrane and TPR repeat-containing protein 3

(term hierarchy)
InterPro Domains

IPR013618 Domain of unknown function DUF1736

IPR011990 Tetratricopeptide-like helical domain

IPR019734 Tetratricopeptide repeat

IPR001440 Tetratricopeptide repeat 1

IPR013105 Tetratricopeptide repeat 2

IPR013026 Tetratricopeptide repeat-containing domain

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All nucleic 53

cDNA 51

Primer pair 1

Other 1

Microarray probesets 4

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MGI:1918840

Summaries

All 39

Developmental Gene Expression 2

Gene Ontology 3

Phenotypes 15
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:178869 Yun EJ, et al., mSmile is Necessary for Bronchial Smooth Muscle and Alveolar Myofibroblast Development. Anat Rec (Hoboken). 2012 Jan;295(1):167-76

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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