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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 Ltbp4-Related Cutis Laxa. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. 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 extra cellular matrix (ECM) (By similarity).

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

Regulatory Elements for LTBP4 Gene

Enhancers for LTBP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G040596 1.8 FANTOM5 ENCODE dbSUPER 8.4 +8.8 8813 10.0 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 ENSG00000205041 NUMBL ENSG00000269843 SHKBP1 ENSG00000269069 SNRPA ZNF546 PSMC4 LTBP4 SERTAD1
GH19G040612 1.3 ENCODE dbSUPER 8.4 +21.6 21600 4.0 HDGF PKNOX1 ARNT AGO1 SIN3A ZBTB7B ZNF143 ZNF207 FOS SP3 SNRPA SERTAD3 ENSG00000269843 SHKBP1 NUMBL ITPKC FBL RAB4B RAB4B-EGLN2 EGLN2
GH19G040608 1.3 ENCODE dbSUPER 8.2 +17.6 17628 3.1 HDGF PKNOX1 AGO1 ZNF2 ZBTB7B ZNF416 ZNF207 ZNF548 ZNF263 SP3 ENSG00000269843 SNRPA ENSG00000205041 SHKBP1 FBL NUMBL ITPKC CCDC97 ENSG00000269069 ENSG00000268366
GH19G040584 1.3 Ensembl ENCODE dbSUPER 8.1 -7.2 -7173 2.3 TAF1 JUN INSM2 MAX SIN3A RBBP5 CEBPG ZEB1 ZNF121 ZNF366 SHKBP1 LTBP4 SERTAD3
GH19G040592 1 Ensembl ENCODE 9.2 -0.5 -483 0.4 USF1 MAX BMI1 RFX5 GATA3 RFXANK POLR2A NFYB NFE2 FOS LTBP4 SHKBP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LTBP4 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for LTBP4 Gene

  • Contains hydroxylated asparagine residues.
  • Glycosylation at posLast=346346, posLast=352352, posLast=425425, Ser468, Thr476, posLast=10551055, posLast=12001200, and posLast=13391339
  • Modification sites at PhosphoSitePlus

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 :
  • 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 extra cellular matrix (ECM) (By similarity).

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 NAS,IEA 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

Animal Model Products

CRISPR Products

miRNA for LTBP4 Gene

miRTarBase miRNAs that target LTBP4

Inhibitory RNA 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 TAS --
GO:0005578 proteinaceous extracellular matrix IEA,IDA 9660815
GO:0005615 extracellular space IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 23376485
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: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:

CRISPR Products

Inhibitory RNA 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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia LTBP4 34 35
  • 97.51 (n)
dog
(Canis familiaris)
Mammalia LTBP4 34 35
  • 90.15 (n)
cow
(Bos Taurus)
Mammalia LTBP4 34 35
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Ltbp4 34
  • 84.7 (n)
mouse
(Mus musculus)
Mammalia Ltbp4 34 16 35
  • 82.98 (n)
oppossum
(Monodelphis domestica)
Mammalia LTBP4 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LTBP4 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LTBP4 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ltbp4 34
  • 55.5 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333499 34
  • 50.29 (n)
fbn2a 35
  • 30 (a)
ManyToMany
si:dkey-235d18.5 35
  • 28 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7526 36
  • 32 (a)
frac 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0393.5 36
  • 41 (a)
ZK783.1 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4493 35
  • 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 Sequence Context AA Info Type
rs267607229 Pathogenic, Urban-Rifkin-Davis syndrome (URDS) [MIM:613177] 40,605,768(+) AGGTC(G/T)GCTGC reference, missense
rs267607228 Pathogenic 40,613,453(+) GAGTG(A/C)CTCAA reference, stop-gained
rs397515430 Pathogenic 40,608,315(+) CACCC(C/T)GAGTG reference, stop-gained
rs606231159 Pathogenic 40,622,647(+) CCAGC(-/A)GTGCC intron-variant, reference, frameshift-variant
rs606231160 Pathogenic 40,605,739(+) GTCCC(-/C)GCTGC reference, frameshift-variant

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

Human Gene Mutation Database (HGMD)
LTBP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LTBP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LTBP4 Gene

Disorders for LTBP4 Gene

MalaCards: The human disease database

(5) 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
ltbp4-related cutis laxa
  • autosomal recessive cutis laxa type 1c
duchenne muscular dystrophy
  • muscular dystrophy, duchenne type
arterial tortuosity syndrome
  • arterial tortuosity
cutis laxa
  • loose skin
- 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 22 64
  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 22 46 64
  3. 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 22 46 64
  4. Sequence and expression of a novel member (LTBP-4) of the family of latent transforming growth factor-beta binding proteins. (PMID: 9271198) Giltay R. … Timpl R. (FEBS Lett. 1997) 2 3 4 64
  5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64

Products for LTBP4 Gene

Sources for LTBP4 Gene

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