LTBP2 latent transforming growth factor beta binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LTBP2provided by HGNC
Official Full Name: latent transforming growth factor beta binding protein 2provided by HGNC
Primary source: HGNC:HGNC:6715
See related: Ensembl:ENSG00000119681 MIM:602091; AllianceGenome:HGNC:6715
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WMS3; GLC3D; LTBP3; MSPKA; MSTP031; C14orf141
Summary: The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]
Annotation information: Note: The official symbol for this gene (GeneID: 4053) is now LTBP2. A different gene (GeneID: 4054) was previously identified in PMID: 7719025 as LTBP2. [27 Jan 2017]
Expression: Broad expression in lung (RPKM 30.6), ovary (RPKM 21.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (74498183..74612237, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (68707154..68821330, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (74964886..75078940, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.
Title: Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.
Plasma LTBP2 as a potential biomarker in differential diagnosis of connective tissue disease-associated interstitial lung disease and idiopathic pulmonary fibrosis: a pilot study.
Title: Plasma LTBP2 as a potential biomarker in differential diagnosis of connective tissue disease-associated interstitial lung disease and idiopathic pulmonary fibrosis: a pilot study.
LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer Cells through p62-Keap1-Nrf2 Pathway.
Title: LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer Cells through p62-Keap1-Nrf2 Pathway.
The prognostic significance of LTBP2 for malignant tumors: Evidence based on 11 observational studies.
Title: The prognostic significance of LTBP2 for malignant tumors: Evidence based on 11 observational studies.
CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis.
Title: CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis.
Latent TGFbeta-binding proteins regulate UCP1 expression and function via TGFbeta2.
Title: Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2.
An Insight into Primary Congenital Glaucoma.
Title: An Insight into Primary Congenital Glaucoma.
Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
Title: Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.
Title: Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.
Our findings point out LTBP2 as responsible of a systemic phenotype coherent with the community of syndromes related to anomalies in genes involved in the TGFb-pathway. Among these disorders, LTBP2-related systemic disease emerges as a distinct condition with expanding prognostic implications and autosomal recessive inheritance.
Title: LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glaucoma 3, primary congenital, D MedGen: C2751316 OMIM: 613086 GeneReviews: Primary Congenital Glaucoma	Compare labs
Glaucoma 3, primary infantile, B MedGen: C1832977 OMIM: 600975 GeneReviews: Primary Congenital Glaucoma	Compare labs
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MedGen: C3538951 OMIM: 251750 GeneReviews: Not available	Compare labs
Weill-Marchesani syndrome 3 MedGen: C3553785 OMIM: 614819 GeneReviews: Weill-Marchesani Syndrome	Compare labs

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1174 (e-PCR)
- UniSTS:154631

RH11328 (e-PCR)
- UniSTS:42523

RH98192 (e-PCR)
- UniSTS:87877

RH70743 (e-PCR)
- UniSTS:80488

RH121852 (e-PCR)
- UniSTS:134513

D14S1250 (e-PCR)
- UniSTS:55201

G35817 (e-PCR)
- UniSTS:47815

D14S1193 (e-PCR)
- UniSTS:23500

SHGC-24140 (e-PCR)
- UniSTS:40667

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables growth factor binding	IEA Inferred from Electronic Annotation more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables microfibril binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein secretion	TAS Traceable Author Statement more info	PubMed
involved_in protein targeting	TAS Traceable Author Statement more info	PubMed
involved_in supramolecular fiber organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within supramolecular fiber organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed

General protein information

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Preferred Names: latent-transforming growth factor beta-binding protein 2

Names: LTBP-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021486.2 RefSeqGene

Range

5000..119054

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000428.3 → NP_000419.1 latent-transforming growth factor beta-binding protein 2 precursor

See identical proteins and their annotated locations for NP_000419.1

Status: REVIEWED

Source sequence(s)

AC005479, AC013451

Consensus CDS

CCDS9831.1

UniProtKB/Swiss-Prot

Q14767, Q99907, Q9NS51

UniProtKB/TrEMBL

Q6AZ94

Related

ENSP00000261978.4, ENST00000261978.9

Conserved Domains (4) summary

smart00179
Location:930 → 960

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1303 → 1335

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:1423 → 1458

TB; TB domain

pfam07645
Location:1218 → 1257

EGF_CA; Calcium-binding EGF domain