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 ... See more...

Aliases for LTBP4 Gene

Aliases for LTBP4 Gene

  • Latent Transforming Growth Factor Beta Binding Protein 4 2 3 5
  • Latent-Transforming Growth Factor Beta-Binding Protein 4 3 4
  • 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. Among its related pathways are ERK Signaling and TGF-Beta 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 Summary for LTBP4 Gene

  • Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.

Additional gene information for LTBP4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LTBP4 Gene

Genomics for LTBP4 Gene

GeneHancer (GH) Regulatory Elements for LTBP4 Gene

Promoters and enhancers for LTBP4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LTBP4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LTBP4

Top Transcription factor binding sites by QIAGEN in the LTBP4 gene promoter:
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • Zic3

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)
Size:
36,937 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 (PubMed:9660815). Interacts with LTBP1 and TGFB1 (PubMed:9660815).

    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 Asn1200, Thr346, Asn352, Asn1339, Asn425, Ser468, Thr476, and Asn1055
  • 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

Protein Domains for LTBP4 Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LTBP4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58718, moderately similar to Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), mRNA (B7Z8L2_HUMAN)
  • Latent-transforming growth factor beta-binding protein 4 (LTBP4_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.
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

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:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005509 calcium ion binding IEA,NAS 9660815
GO:0005515 protein binding 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

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 3
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for LTBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
GO:0005615 extracellular space HDA 20551380
GO:0031012 extracellular matrix IDA 9660815
GO:0062023 collagen-containing extracellular matrix HDA,IDA 16157329
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

PathCards logo

SuperPathways for LTBP4 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with LTBP4: view

Pathways by source for LTBP4 Gene

54 Qiagen pathways for LTBP4 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

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

mRNA/cDNA for LTBP4 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
39 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for LTBP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for LTBP4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.7)
  • Pancreas(2.3)
  • Stomach(2.2)
  • Intestine(2.1)
  • 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 31 30
  • 97.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LTBP4 31 30
  • 90.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LTBP4 31 30
  • 86.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ltbp4 30
  • 84.7 (n)
mouse
(Mus musculus)
Mammalia Ltbp4 17 31 30