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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
  • Latent-Transforming Growth Factor Beta-Binding Protein 4 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 Muscular Dystrophy, Duchenne Type. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is LTBP2.

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 extracellular matrix (ECM) (By similarity).

Additional gene information for LTBP4 Gene

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

Genomics for LTBP4 Gene

GeneHancer (GH) Regulatory Elements for LTBP4 Gene

Promoters and enhancers for LTBP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I040596 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 566.4 +8.8 8813 10 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 LTBP4 HNRNPUL1 ZNF780B SNRPA ENSG00000269843 CCDC97 AKT2 FBL ZNF780A CYP2G1P
GH19I040592 Enhancer 0.9 Ensembl ENCODE 559.2 -0.5 -482 0.4 USF1 MAX BMI1 E4F1 RFX5 GATA3 RFXANK POLR2A NFYB FOS LTBP4 SHKBP1
GH19I041294 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +710.4 710414 16.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 CCDC97 ZNF526 HNRNPUL1 SNRPA ZNF574 ENSG00000269843 COQ8B TGFB1 AXL ITPKC
GH19I040747 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +159.9 159878 9.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF416 SNRPA C19orf54 HNRNPUL1 ENSG00000269843 CCDC97 COQ8B ZNF780A FBL AKT2 ZNF780B
GH19I039995 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 -595.6 -595583 2.9 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF546 GC19M039992 CYP2G1P SNRPA FBL ZNF780B SUPT5H FCGBP ENSG00000269843 PAK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LTBP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LTBP4 gene promoter:

Genomic Locations for LTBP4 Gene

Genomic Locations for LTBP4 Gene
chr19:40,592,883-40,629,820
(GRCh38/hg38)
Size:
36,938 bases
Orientation:
Plus strand
chr19:41,098,789-41,135,725
(GRCh37/hg19)

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

Post-translational modifications for LTBP4 Gene

  • Contains hydroxylated asparagine residues.
  • Glycosylation at isoforms=2, 3346, posLast=352352, isoforms=2, 3425, isoforms=2, 3468, isoforms=2, 3476, isoforms=2, 31055, posLast=12001200, and isoforms=2, 3, 41339
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LTBP4 Gene

Domains & Families for LTBP4 Gene

Gene Families for LTBP4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q8N2S1

UniProtKB/Swiss-Prot:

LTBP4_HUMAN :
  • Belongs to the LTBP family.
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 extracellular matrix (ECM) (By similarity).

Phenotypes From GWAS Catalog for LTBP4 Gene

Gene Ontology (GO) - Molecular Function for LTBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005024 transforming growth factor beta-activated receptor activity NAS 9660815
GO:0005178 integrin binding NAS 9660815
GO:0005509 calcium ion binding IEA,NAS 9660815
GO:0005515 protein binding IPI 12429738
GO:0005539 glycosaminoglycan binding NAS 9660815
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LTBP4 gene
Compartment Confidence
extracellular 5
plasma membrane 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LTBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS --
GO:0005578 proteinaceous extracellular matrix IDA,IEA 9660815
GO:0005615 extracellular space IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with LTBP4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LTBP4 Gene

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:0001558 regulation of cell growth TAS 9660815
GO:0006457 protein folding TAS 9660815
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
GO:0007275 multicellular organism development TAS 9660815
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway 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:

Clone Products

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:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LTBP4 Gene



NURSA nuclear receptor signaling pathways regulating expression of LTBP4 Gene:

LTBP4

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.

Evidence on tissue expression from TISSUES for LTBP4 Gene

  • Heart(4.5)
  • Liver(4.3)
  • Lung(3.7)
  • Nervous system(3.6)
  • Muscle(2.6)
  • Intestine(2.4)
  • Pancreas(2.3)
  • Stomach(2.2)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LTBP4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • epiglottis
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • vocal cord
Thorax:
  • bronchus
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with LTBP4: view

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
chimpanzee
(Pan troglodytes)
Mammalia LTBP4 33 34
  • 97.51 (n)
dog
(Canis familiaris)
Mammalia LTBP4 33 34
  • 90.15 (n)
cow
(Bos Taurus)
Mammalia LTBP4 33 34
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Ltbp4 33
  • 84.7 (n)
mouse
(Mus musculus)
Mammalia Ltbp4 33 16 34
  • 82.98 (n)
oppossum
(Monodelphis domestica)
Mammalia LTBP4 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LTBP4 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LTBP4 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ltbp4 33
  • 55.5 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333499 33
  • 50.29 (n)
fbn2a 34
  • 30 (a)
ManyToMany
si:dkey-235d18.5 34
  • 28 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7526 35
  • 32 (a)
frac 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0393.5 35
  • 41 (a)
ZK783.1 35
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4493 34
  • 32 (a)
OneToOne
Species where no ortholog for LTBP4 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs10424186 likely-benign, Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 40,629,636(+) C/G/T