Ltbp3 MGI Mouse Gene Detail - MGI:1101355 - latent transforming growth factor beta binding protein 3

Symbol

Ltbp3
Name

latent transforming growth factor beta binding protein 3
Synonyms

Ltbp2

Feature Type

protein coding gene
IDs

MGI:1101355
NCBI Gene: 16998
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr19:5790932-5808560 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.34 cM, cytoband B
Mapping Data

10 experiments

SNPs within 2kb

71 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1101355	protein coding gene	Chr19:5790928-5808564 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024727	protein coding gene	Chr19:2731064-2748702 (+)
A/J	MGP_AJ_G0024693	protein coding gene	Chr19:2581023-2598652 (+)
AKR/J	MGP_AKRJ_G0024666	protein coding gene	Chr19:2649461-2667114 (+)
BALB/cJ	MGP_BALBcJ_G0024693	protein coding gene	Chr19:2576270-2593898 (+)
C3H/HeJ	MGP_C3HHeJ_G0024461	protein coding gene	Chr19:2667605-2688666 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025140	protein coding gene	Chr19:2799915-2815621 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022570	protein coding gene	Chr19:2489738-2507950 (+)
CAST/EiJ	MGP_CASTEiJ_G0023933	protein coding gene	Chr19:2685160-2702762 (+)
CBA/J	MGP_CBAJ_G0024433	protein coding gene	Chr19:2924841-2945497 (+)
DBA/2J	MGP_DBA2J_G0024560	protein coding gene	Chr19:2576621-2594290 (+)
FVB/NJ	MGP_FVBNJ_G0024526	protein coding gene	Chr19:2573249-2590875 (+)
LP/J	MGP_LPJ_G0024646	protein coding gene	Chr19:2702667-2720113 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024556	protein coding gene	Chr19:2763687-2781355 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025188	protein coding gene	Chr19:2668113-2685661 (+)
PWK/PhJ	MGP_PWKPhJ_G0023679	protein coding gene	Chr19:2600044-2618253 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023484	protein coding gene	Chr19:2653468-2673803 (+)
WSB/EiJ	MGP_WSBEiJ_G0023995	protein coding gene	Chr19:2678824-2696501 (+)

Human Ortholog

LTBP3, latent transforming growth factor beta binding protein 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LTBP3, latent transforming growth factor beta binding protein 3
Synonyms

DASS, GPHYSD3, LTBP2, LTBP-3, pp6425, STHAG6
Links

HGNC:6716

NCBI Gene ID: 4054

neXtProt AC: NX_Q9NS15

UniProt: Q9NS15
Chr Location

11q13.1; chr11:65538559-65558930 (-) GRCh38

MGI Vertebrate Homology

Ltbp3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LTBP3
Gene Tree

Ltbp3

Diseases

1 with Ltbp3 mouse models; 2 with human LTBP3 associations

Human Disease

Mouse Models

brachyolmia-amelogenesis imperfecta syndrome

IDs

View 1 model

geleophysic dysplasia 3

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

50 phenotypes from 3 alleles in 3 genetic backgrounds
4 images
19 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

7
Chemically induced (ENU)

1
Endonuclease-mediated

3
Spontaneous

1
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

58 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels.

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All GO Annotations

28
GO References

10

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	non-membrane-bounded 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

1072
Tissues

152
cDNA Data

19
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ltbp3

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All Sequences

77
RefSeq

22
UniProt

5
CCDS

CCDS37891.1

Ensembl

ENSMUSG00000024940 (Evidence)
NCBI Gene

16998

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024940	Ensembl Gene Model \| MGI Sequence Detail	17629	C57BL/6J	± kb
transcript	ENSMUST00000081496	Ensembl \| MGI Sequence Detail	5190	Not Applicable
polypeptide	ENSMUSP00000080214	Ensembl \| MGI Sequence Detail	1253	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000009974 latent-transforming growth factor beta-binding protein 3

(term hierarchy)
InterPro Domains

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR013032 EGF-like, conserved site

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR017878 TB domain

IPR036773 TGF-beta binding (TB) domain superfamily

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All nucleic 28

Genomic 2

cDNA 22

Primer pair 3

Other 1

Microarray probesets 7

Summaries

All 57

Developmental Gene Expression 13

Diseases 1

Gene Ontology 10

Phenotypes 19
Earliest

J:22443 Li X, et al., Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2). Mamm Genome. 1995 Jan;6(1):42-5
Latest

J:328539 Singh K, et al., Latent Transforming Growth Factor beta Binding Protein 3 Controls Adipogenesis. Matrix Biol. 2022 Aug 3;

TSS for Ltbp3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154485	Chr19:5790913-5790932 (+)	-9 bp
Tssr154486	Chr19:5791328-5791353 (+)	409 bp
Tssr154487	Chr19:5791709-5791729 (+)	787 bp
Tssr154488	Chr19:5791735-5791757 (+)	814 bp
Tssr154489	Chr19:5791887-5791915 (+)	969 bp
Tssr154490	Chr19:5791920-5791930 (+)	993 bp
Tssr154491	Chr19:5791987-5792043 (+)	1,083 bp
Tssr154492	Chr19:5792047-5792064 (+)	1,124 bp
Tssr154493	Chr19:5792108-5792113 (+)	1,179 bp
Tssr154494	Chr19:5792488-5792500 (+)	1,562 bp
Tssr154495	Chr19:5797771-5797781 (+)	6,844 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 04/16/2024 MGI 6.23