Human Gene LTBP2 (ENST00000261978.9) from GENCODE V44
  Description: Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. (from RefSeq NM_000428)
RefSeq Summary (NM_000428): 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].
Gencode Transcript: ENST00000261978.9
Gencode Gene: ENSG00000119681.12
Transcript (Including UTRs)
   Position: hg38 chr14:74,498,183-74,612,237 Size: 114,055 Total Exon Count: 36 Strand: -
Coding Region
   Position: hg38 chr14:74,500,884-74,611,944 Size: 111,061 Coding Exon Count: 36 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:74,498,183-74,612,237)mRNA (may differ from genome)Protein (1821 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LTBP2_HUMAN
DESCRIPTION: RecName: Full=Latent-transforming growth factor beta-binding protein 2; Short=LTBP-2; Flags: Precursor;
FUNCTION: May play an integral structural role in elastic-fiber architectural organization and/or assembly.
SUBUNIT: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with SDC4.
SUBCELLULAR LOCATION: Secreted (By similarity). Note=Localized in nuchal ligament and aorta to the fibrillin-containing, microfibrillar component of elastic fibers (By similarity).
TISSUE SPECIFICITY: Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.
DOMAIN: Associates covalently with small latent TGF-beta complex via Repeat B and Repeat C (By similarity).
PTM: Contains hydroxylated asparagine residues (By similarity).
DISEASE: Defects in LTBP2 are the cause of primary congenital glaucoma type 3D (GLC3D) [MIM:613086]. An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
DISEASE: Defects in LTBP2 are the cause of microspherophakia (MCSPH) [MIM:251750]. It is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation.
DISEASE: Defects in LTBP2 are the cause of Weill-Marchesani syndrome 3 (WMS3) [MIM:614819]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities.
SIMILARITY: Belongs to the LTBP family.
SIMILARITY: Contains 20 EGF-like domains.
SIMILARITY: Contains 4 TB (TGF-beta binding) domains.
CAUTION: PubMed:7798248 reported that a complex is formed with TGFB1. PubMed:10930463 has shown that there is no association with TGFB1.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LTBP2
Diseases sorted by gene-association score: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma* (1370), weill-marchesani syndrome 3, recessive* (1200), glaucoma 3, primary congenital, d* (919), glaucoma 3a, primary open angle, congenital, juvenile, or adult onset* (541), ltbp2-related weill-marchesani syndrome* (500), weill-marchesani syndrome* (484), marfan syndrome* (283), weill-marchesani syndrome 1, recessive* (283), primary congenital glaucoma* (137), ltbp2-related primary congenital glaucoma* (100), megalocornea (24), corneal edema (23), weill-marchesani-like syndrome (11), excessive tearing (9), hydrophthalmos (7), phacogenic glaucoma (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 239.93 RPKM in Artery - Aorta
Total median expression: 969.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.70293-0.470 Picture PostScript Text
3' UTR -711.902701-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR009030 - Growth_fac_rcpt
IPR017878 - TB_dom

Pfam Domains:
PF00008 - EGF-like domain
PF07645 - Calcium-binding EGF domain
PF00683 - TB domain

ModBase Predicted Comparative 3D Structure on Q14767
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0019838 growth factor binding

Biological Process:
GO:0006605 protein targeting
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0009306 protein secretion
GO:0097435 supramolecular fiber organization

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0031012 extracellular matrix
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB209865 - Homo sapiens mRNA for latent transforming growth factor beta binding protein 2 variant protein.
S82451 - latent transforming growth factor-beta-binding protein-2 [human, fibroblast cell line CC102, mRNA, 7017 nt].
Z37976 - H.sapiens mRNA for latent transforming growth factor-beta binding protein (LTBP-2).
BC078659 - Homo sapiens latent transforming growth factor beta binding protein 2, mRNA (cDNA clone MGC:87426 IMAGE:30343778), complete cds.
KJ897147 - Synthetic construct Homo sapiens clone ccsbBroadEn_06541 LTBP2 gene, encodes complete protein.
BC062686 - Homo sapiens cDNA clone IMAGE:4696653.
AF113211 - Homo sapiens MSTP031 mRNA, complete cds.
BC047742 - Homo sapiens latent transforming growth factor beta binding protein 2, mRNA (cDNA clone IMAGE:6190775), with apparent retained intron.
JD481810 - Sequence 462834 from Patent EP1572962.
JD277531 - Sequence 258555 from Patent EP1572962.
JD044125 - Sequence 25149 from Patent EP1572962.
JD331710 - Sequence 312734 from Patent EP1572962.
JD226657 - Sequence 207681 from Patent EP1572962.
JD083100 - Sequence 64124 from Patent EP1572962.
JD230221 - Sequence 211245 from Patent EP1572962.
JD282045 - Sequence 263069 from Patent EP1572962.
JD293045 - Sequence 274069 from Patent EP1572962.
JD091737 - Sequence 72761 from Patent EP1572962.
JD563050 - Sequence 544074 from Patent EP1572962.
JD235236 - Sequence 216260 from Patent EP1572962.
JD413979 - Sequence 395003 from Patent EP1572962.
JD501701 - Sequence 482725 from Patent EP1572962.
JD566204 - Sequence 547228 from Patent EP1572962.
JD205639 - Sequence 186663 from Patent EP1572962.
JD330727 - Sequence 311751 from Patent EP1572962.
JD048325 - Sequence 29349 from Patent EP1572962.
JD188983 - Sequence 170007 from Patent EP1572962.
JD282607 - Sequence 263631 from Patent EP1572962.
JD316992 - Sequence 298016 from Patent EP1572962.
JD438013 - Sequence 419037 from Patent EP1572962.
JD368887 - Sequence 349911 from Patent EP1572962.
JD282242 - Sequence 263266 from Patent EP1572962.
JD192333 - Sequence 173357 from Patent EP1572962.
JD393625 - Sequence 374649 from Patent EP1572962.
JD075817 - Sequence 56841 from Patent EP1572962.
JD259240 - Sequence 240264 from Patent EP1572962.
JD514305 - Sequence 495329 from Patent EP1572962.
JD114394 - Sequence 95418 from Patent EP1572962.
JD382650 - Sequence 363674 from Patent EP1572962.
JD107043 - Sequence 88067 from Patent EP1572962.
JD084707 - Sequence 65731 from Patent EP1572962.
JD056464 - Sequence 37488 from Patent EP1572962.
JD375052 - Sequence 356076 from Patent EP1572962.
JD384942 - Sequence 365966 from Patent EP1572962.
JD340499 - Sequence 321523 from Patent EP1572962.
LF212499 - JP 2014500723-A/20002: Polycomb-Associated Non-Coding RNAs.
MA448076 - JP 2018138019-A/20002: Polycomb-Associated Non-Coding RNAs.
LF213299 - JP 2014500723-A/20802: Polycomb-Associated Non-Coding RNAs.
MA448876 - JP 2018138019-A/20802: Polycomb-Associated Non-Coding RNAs.
JD211599 - Sequence 192623 from Patent EP1572962.
JD248138 - Sequence 229162 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14767 (Reactome details) participates in the following event(s):

R-HSA-2328033 Fibrillin-1 binds latent TGF-beta
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: C14orf141, ENST00000261978.1, ENST00000261978.2, ENST00000261978.3, ENST00000261978.4, ENST00000261978.5, ENST00000261978.6, ENST00000261978.7, ENST00000261978.8, LTBP2_HUMAN, LTBP3, NM_000428, Q14767, Q99907, Q9NS51, uc001xqa.1, uc001xqa.2, uc001xqa.3, uc001xqa.4, uc001xqa.5
UCSC ID: ENST00000261978.9
RefSeq Accession: NM_000428
Protein: Q14767 (aka LTBP2_HUMAN or LTB2_HUMAN)
CCDS: CCDS9831.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene LTBP2:
glc (Primary Congenital Glaucoma)
weill-ms (Weill-Marchesani Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.