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Aliases for LTBP4 Gene

Aliases for LTBP4 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 4 2 3 5
  • LTBP-4 3 4
  • Latent Transforming Growth Factor-Beta Binding Protein 4L 3
  • ARCL1C 3
  • LTBP4L 3
  • LTBP4S 3

External Ids for LTBP4 Gene

Previous GeneCards Identifiers for LTBP4 Gene

  • GC19P041742
  • GC19P041494
  • GC19P045776
  • GC19P045790
  • GC19P041099
  • GC19P037533

Summaries for LTBP4 Gene

Entrez Gene Summary for LTBP4 Gene

  • The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

GeneCards Summary for LTBP4 Gene

LTBP4 (Latent Transforming Growth Factor Beta Binding Protein 4) is a Protein Coding gene. Diseases associated with LTBP4 include cutis laxa, autosomal recessive, type ic and cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies. Among its related pathways are Degradation of the extracellular matrix and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot for LTBP4 Gene

  • May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM) (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LTBP4 Gene

Genomics for LTBP4 Gene

Regulatory Elements for LTBP4 Gene

Genomic Location for LTBP4 Gene

Chromosome:
19
Start:
40,592,883 bp from pter
End:
40,629,820 bp from pter
Size:
36,938 bases
Orientation:
Plus strand

Genomic View for LTBP4 Gene

Genes around LTBP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LTBP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LTBP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LTBP4 Gene

Proteins for LTBP4 Gene

  • Protein details for LTBP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2S1-LTBP4_HUMAN
    Recommended name:
    Latent-transforming growth factor beta-binding protein 4
    Protein Accession:
    Q8N2S1
    Secondary Accessions:
    • O00508
    • O75412
    • O75413

    Protein attributes for LTBP4 Gene

    Size:
    1624 amino acids
    Molecular mass:
    173435 Da
    Quaternary structure:
    • Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with LTBP1 and TGFB1. Binds to FBN1 (By similarity).

    Alternative splice isoforms for LTBP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LTBP4 Gene

Proteomics data for LTBP4 Gene at MOPED

Post-translational modifications for LTBP4 Gene

  • Contains hydroxylated asparagine residues.
  • Glycosylation at Thr 346, Asn 352, Asn 425, Ser 468, Thr 476, Asn 1055, Asn 1200, and Asn 1339
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for LTBP4 (Latent TGF-beta bp4)

No data available for DME Specific Peptides for LTBP4 Gene

Domains & Families for LTBP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N2S1

UniProtKB/Swiss-Prot:

LTBP4_HUMAN :
  • Contains 16 EGF-like domains.
  • Belongs to the LTBP family.
Domain:
  • Contains 16 EGF-like domains.
  • Contains 4 TB (TGF-beta binding) domains.
Family:
  • Belongs to the LTBP family.
genes like me logo Genes that share domains with LTBP4: view

Function for LTBP4 Gene

Molecular function for LTBP4 Gene

GENATLAS Biochemistry:
latent transforming growth factor beta,binding protein 4,extracellular matrix component,161kDa (LTBP4-5),expressed in the heart,aorta,uterus and small intestine,member of the growth LTBP-fibrillin family,including 4 isoforms
UniProtKB/Swiss-Prot Function:
May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM) (By similarity).

Gene Ontology (GO) - Molecular Function for LTBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12429738
genes like me logo Genes that share ontologies with LTBP4: view
genes like me logo Genes that share phenotypes with LTBP4: view

Human Phenotype Ontology for LTBP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for LTBP4 Gene

miRTarBase miRNAs that target LTBP4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LTBP4 Gene

Localization for LTBP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LTBP4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LTBP4 Gene COMPARTMENTS Subcellular localization image for LTBP4 gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LTBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with LTBP4: view

Pathways & Interactions for LTBP4 Gene

genes like me logo Genes that share pathways with LTBP4: view

Gene Ontology (GO) - Biological Process for LTBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 9660815
GO:0007275 multicellular organism development TAS 9660815
GO:0030252 growth hormone secretion TAS 9660815
genes like me logo Genes that share ontologies with LTBP4: view

No data available for SIGNOR curated interactions for LTBP4 Gene

Drugs & Compounds for LTBP4 Gene

No Compound Related Data Available

Transcripts for LTBP4 Gene

Unigene Clusters for LTBP4 Gene

Latent transforming growth factor beta binding protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LTBP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b ^
SP1: - - - -
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7: - -
SP8:
SP9:
SP10: -
SP11: - - -
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20: - - -
SP21:
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SP23:
SP24:
SP25:
SP26:
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SP28:
SP29:
SP30:
SP31:
SP32: -
SP33:
SP34:

ExUns: 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b · 24c · 24d ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c · 27d ^ 28a · 28b · 28c ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8: - - - -
SP9: - - - - - - - -
SP10: - -
SP11: - -
SP12: - -
SP13: - - - - - - - - -
SP14: - - - - - - -
SP15: - - - - - - -
SP16: - - - - - -
SP17: - - - -
SP18:
SP19: - - - - - - - - - - -
SP20: -
SP21: - - -
SP22: - - - - -
SP23: - - - - -
SP24: - - - - - -
SP25: - - - - - - - -
SP26: - -
SP27:
SP28:
SP29: - - - -
SP30: - - - - - - - -
SP31:
SP32:
SP33: -
SP34:

ExUns: 29a · 29b ^ 30 ^ 31a · 31b · 31c · 31d ^ 32 ^ 33a · 33b · 33c · 33d ^ 34a · 34b · 34c ^ 35a · 35b ^ 36 ^ 37 ^ 38
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - - -
SP15:
SP16: - - - - -
SP17:
SP18:
SP19: - -
SP20:
SP21:
SP22:
SP23: - - - - -
SP24: - - - - -
SP25: - - - - - -
SP26: - - - - -
SP27:
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:

Relevant External Links for LTBP4 Gene

GeneLoc Exon Structure for
LTBP4
ECgene alternative splicing isoforms for
LTBP4

Expression for LTBP4 Gene

mRNA expression in normal human tissues for LTBP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LTBP4 Gene

This gene is overexpressed in Artery - Aorta (x4.6).

Protein differential expression in normal tissues from HIPED for LTBP4 Gene

This gene is overexpressed in Fetal gut (13.3) and Pancreas (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LTBP4 Gene



SOURCE GeneReport for Unigene cluster for LTBP4 Gene Hs.466766

mRNA Expression by UniProt/SwissProt for LTBP4 Gene

Q8N2S1-LTBP4_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung.
genes like me logo Genes that share expression patterns with LTBP4: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for LTBP4 Gene

Orthologs for LTBP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for LTBP4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LTBP4 35
  • 86.86 (n)
  • 88.9 (a)
LTBP4 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LTBP4 35
  • 90.15 (n)
  • 92.71 (a)
LTBP4 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ltbp4 35
  • 82.98 (n)
  • 85.38 (a)
Ltbp4 16
Ltbp4 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LTBP4 35
  • 97.51 (n)
  • 97.16 (a)
LTBP4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ltbp4 35
  • 84.7 (n)
  • 89.48 (a)
oppossum
(Monodelphis domestica)
Mammalia LTBP4 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LTBP4 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LTBP4 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ltbp4 35
  • 55.5 (n)
  • 52.98 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333499 35
  • 50.29 (n)
  • 43.54 (a)
fbn2a 36
  • 30 (a)
ManyToMany
si:dkey-235d18.5 36
  • 28 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7526 37
  • 32 (a)
frac 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0393.5 37
  • 41 (a)
ZK783.1 37
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4493 36
  • 32 (a)
OneToOne
Species with no ortholog for LTBP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LTBP4 Gene

ENSEMBL:
Gene Tree for LTBP4 (if available)
TreeFam:
Gene Tree for LTBP4 (if available)

Paralogs for LTBP4 Gene

Paralogs for LTBP4 Gene

genes like me logo Genes that share paralogs with LTBP4: view

Variants for LTBP4 Gene

Sequence variations from dbSNP and Humsavar for LTBP4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2303729 - 40,605,163(-) TGGTA(C/T)AGCCG reference, missense, utr-variant-5-prime
rs33937741 - 40,610,549(+) GCCAC(C/G/T)GCGTG reference, missense
rs34299942 - 40,611,175(+) AGAGC(C/G)CAGGC intron-variant, reference, missense
rs1131620 - 40,611,963(+) CCAAC(A/G)CTGCT reference, missense
rs1051303 - 40,612,150(+) GCAGG(A/G)CCTGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LTBP4 Gene

Variant ID Type Subtype PubMed ID
dgv3869n71 CNV Loss 21882294
dgv3870n71 CNV Loss 21882294
dgv3871n71 CNV Loss 21882294
nsv911724 CNV Loss 21882294
nsv911725 CNV Loss 21882294
nsv911726 CNV Loss 21882294

Variation tolerance for LTBP4 Gene

Gene Damage Index Score: 21.48; 99.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LTBP4 Gene

HapMap Linkage Disequilibrium report
LTBP4
Human Gene Mutation Database (HGMD)
LTBP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LTBP4 Gene

Disorders for LTBP4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for LTBP4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cutis laxa, autosomal recessive, type ic
  • urban-rifkin-davis syndrome
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • urban-rifkin-davis syndrome
duchenne muscular dystrophy
  • muscular dystrophy, duchenne
cutis laxa
  • loose skin
arterial tortuosity syndrome
  • arterial tortuosity
- elite association - COSMIC cancer census association via MalaCards
Search LTBP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LTBP4_HUMAN
  • Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]: A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles. {ECO:0000269 PubMed:19836010}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LTBP4

Genetic Association Database (GAD)
LTBP4
Human Genome Epidemiology (HuGE) Navigator
LTBP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LTBP4
genes like me logo Genes that share disorders with LTBP4: view

No data available for Genatlas for LTBP4 Gene

Publications for LTBP4 Gene

  1. Identification and characterization of a new latent transforming growth factor-beta-binding protein, LTBP-4. (PMID: 9660815) Saharinen J. … Keski-Oja J. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Assessment of the association between genetic polymorphisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of Abdominal Aortic Aneurysm. (PMID: 19897194) Thompson A.R. … Humphries S.E. (Atherosclerosis 2010) 3 23
  3. Independent regulation of short and long forms of latent TGF-beta binding protein (LTBP)-4 in cultured fibroblasts and human tissues. (PMID: 20175115) Kantola A.K. … Koli K. (J. Cell. Physiol. 2010) 3 23
  4. Fibronectin and heparin binding domains of latent TGF-beta binding protein (LTBP)-4 mediate matrix targeting and cell adhesion. (PMID: 18585707) Kantola A.K. … Koli K. (Exp. Cell Res. 2008) 3 23
  5. Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. (PMID: 16456143) Hersh C.P. … Silverman E.K. (Am. J. Respir. Crit. Care Med. 2006) 3 23

Products for LTBP4 Gene

Sources for LTBP4 Gene

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