The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stabili... See more...

Aliases for PLOD2 Gene

Aliases for PLOD2 Gene

  • Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2 2 3 4 5
  • LH2 2 3 4
  • Procollagen-Lysine 5-Dioxygenase 2 3
  • Lysyl Hydroxylase 2 3 4
  • Lysyl Hydroxlase 2 2 3
  • EC 1.14.11.4 4 50
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase (Lysine Hydroxylase) 2 2
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 2 2
  • Telopeptide Lysyl Hydroxylase 3
  • Lysine Hydroxylase 2 3
  • BRKS2 3
  • PLOD2 5
  • TLH 3

External Ids for PLOD2 Gene

Previous GeneCards Identifiers for PLOD2 Gene

  • GC03M142579
  • GC03M146646
  • GC03M147068
  • GC03M147109
  • GC03M147110
  • GC03M147269
  • GC03M145787
  • GC03M143165

Summaries for PLOD2 Gene

Entrez Gene Summary for PLOD2 Gene

  • The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for PLOD2 Gene

PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2) is a Protein Coding gene. Diseases associated with PLOD2 include Bruck Syndrome 2 and Bruck Syndrome. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is PLOD1.

UniProtKB/Swiss-Prot Summary for PLOD2 Gene

  • Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLOD2 Gene

Genomics for PLOD2 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around PLOD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLOD2

Top Transcription factor binding sites by QIAGEN in the PLOD2 gene promoter:
  • AML1a
  • E47
  • HNF-4alpha1
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • S8

Genomic Locations for PLOD2 Gene

Latest Assembly
chr3:146,069,437-146,163,653
(GRCh38/hg38)
Size:
94,217 bases
Orientation:
Minus strand

Previous Assembly
chr3:145,787,227-145,878,971
(GRCh37/hg19 by Entrez Gene)
Size:
91,745 bases
Orientation:
Minus strand

chr3:145,787,227-145,881,440
(GRCh37/hg19 by Ensembl)
Size:
94,214 bases
Orientation:
Minus strand

Genomic View for PLOD2 Gene

Genes around PLOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLOD2 Gene

Proteins for PLOD2 Gene

  • Protein details for PLOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00469-PLOD2_HUMAN
    Recommended name:
    Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
    Protein Accession:
    O00469
    Secondary Accessions:
    • B3KWS3
    • Q59ED2
    • Q8N170

    Protein attributes for PLOD2 Gene

    Size:
    737 amino acids
    Molecular mass:
    84686 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAD93116.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLOD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLOD2 Gene

Selected DME Specific Peptides for PLOD2 Gene

O00469:
  • DGYYARSEDYVDIVQ
  • GTRYIAVSF
  • ACDELVEEMEHYGKWS
  • LWSNFWG
  • YYFSVDADV
  • RVGVWNVPY
  • DWKEKYI
  • PGRLTHLHEGL
  • PHHDASTF

Post-translational modifications for PLOD2 Gene

  • Glycosylation at Asn63, Asn522, Asn209, Asn297, Asn365, Asn696, and Asn725
  • Ubiquitination at Lys344
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PLOD2_HUMAN (746)

Domains & Families for PLOD2 Gene

Gene Families for PLOD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PLOD2 Gene

InterPro:
Blocks:
  • Procollagen-lysine 5-dioxygenase
  • Prolyl 4-hydroxylase, alpha subunit

Suggested Antigen Peptide Sequences for PLOD2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ43712 fis, clone TESOP2004114, highly similar to Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA (B3KWS3_HUMAN)
  • Lysyl hydroxylase 2 (PLOD2_HUMAN)
  • PLOD2 protein (Q96AR9_HUMAN)
  • Lysyl hydroxylase 2 (Q96QU5_HUMAN)
genes like me logo Genes that share domains with PLOD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLOD2 Gene

Function for PLOD2 Gene

Molecular function for PLOD2 Gene

UniProtKB/Swiss-Prot Function:
Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-lysyl-[procollagen] + O2 = (5R)-5-hydroxy-L-lysyl-[procollagen] + CO2 + succinate; Xref=Rhea:RHEA:16569, Rhea:RHEA-COMP:12751, Rhea:RHEA-COMP:12752, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:133442; EC=1.14.11.4; Evidence={ECO:0000250|UniProtKB:P24802};.
GENATLAS Biochemistry:
procollagen-lysine,2-oxoglutarate 5 dioxygenase 2

Enzyme Numbers (IUBMB) for PLOD2 Gene

Phenotypes From GWAS Catalog for PLOD2 Gene

Gene Ontology (GO) - Molecular Function for PLOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008475 procollagen-lysine 5-dioxygenase activity IEA,ISS 9582318
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0031418 L-ascorbic acid binding IEA --
genes like me logo Genes that share ontologies with PLOD2: view
genes like me logo Genes that share phenotypes with PLOD2: view

Human Phenotype Ontology for PLOD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLOD2

Clone products for research

  • Addgene plasmids for PLOD2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PLOD2 Gene

Localization for PLOD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLOD2 Gene

Rough endoplasmic reticulum membrane. Peripheral membrane protein. Lumenal side.

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 PLOD2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS,IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0030867 rough endoplasmic reticulum membrane IEA --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with PLOD2: view

Pathways & Interactions for PLOD2 Gene

genes like me logo Genes that share pathways with PLOD2: view

Pathways by source for PLOD2 Gene

Gene Ontology (GO) - Biological Process for PLOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEP 15174142
GO:0006464 cellular protein modification process TAS 9054364
GO:0006493 NOT protein O-linked glycosylation IDA 10934207
GO:0017185 peptidyl-lysine hydroxylation IBA,ISS 9582318
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with PLOD2: view

No data available for SIGNOR curated interactions for PLOD2 Gene

Drugs & Compounds for PLOD2 Gene

(8) Drugs for PLOD2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target, cofactor 836,836
Lysine Approved Nutra 187
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for PLOD2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxylysine
  • (2S,5R)-5-Hydroxylysine
  • (5R)-5-Hydroxy-L-lysine
  • alpha,epsilon-Diamino-delta-hydroxycaproic acid
  • L-Erythro-5-hydroxylysine
  • L-Normal-5-hydroxylysine
1190-94-9
genes like me logo Genes that share compounds with PLOD2: view

Transcripts for PLOD2 Gene

mRNA/cDNA for PLOD2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLOD2

Clone products for research

  • Addgene plasmids for PLOD2

Alternative Splicing Database (ASD) splice patterns (SP) for PLOD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3:

Relevant External Links for PLOD2 Gene

GeneLoc Exon Structure for
PLOD2

Expression for PLOD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLOD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLOD2 Gene

This gene is overexpressed in Bone marrow stromal cell (32.4), Amniocyte (10.9), and Islet of Langerhans (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLOD2 Gene



Protein tissue co-expression partners for PLOD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLOD2

SOURCE GeneReport for Unigene cluster for PLOD2 Gene:

Hs.477866

mRNA Expression by UniProt/SwissProt for PLOD2 Gene:

O00469-PLOD2_HUMAN
Tissue specificity: Highly expressed in pancreas and muscle. Isoform 1 and isoform 2 are expressed in the majority of the examined cell types. Isoform 2 is specifically expressed in skin, lung, dura and aorta.

Evidence on tissue expression from TISSUES for PLOD2 Gene

  • Kidney(4.5)
  • Liver(4.5)
  • Skin(4.4)
  • Blood(4.4)
  • Nervous system(3.8)
  • Heart(2.4)
  • Intestine(2.4)
  • Thyroid gland(2.2)
  • Muscle(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLOD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • cheek
  • chin
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PLOD2: view

No data available for mRNA differential expression in normal tissues for PLOD2 Gene

Orthologs for PLOD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLOD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLOD2 29 30
  • 99.73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 94 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia PLOD2 29 30
  • 93.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLOD2 29 30
  • 93.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plod2 29 16 30
  • 87.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plod2 29
  • 87.28 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLOD2 30
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLOD2 29 30
  • 78.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLOD2 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plod2 29
  • 74.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii plod2 29 30
  • 68.67 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Plod 30
  • 44 (a)
OneToMany
CG6199 31
  • 44 (a)
Worm
(Caenorhabditis elegans)
Secernentea let-268 30 31
  • 42 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10744 30
  • 49 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.15539 29
Species where no ortholog for PLOD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 PLOD2 Gene

ENSEMBL:
Gene Tree for PLOD2 (if available)
TreeFam:
Gene Tree for PLOD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLOD2: view image
Alliance of Genome Resources:
Additional Orthologs for PLOD2

Paralogs for PLOD2 Gene

Paralogs for PLOD2 Gene

(3) SIMAP similar genes for PLOD2 Gene using alignment to 7 proteins:

  • PLOD2_HUMAN
  • B3KWS3_HUMAN
  • C9JXZ0_HUMAN
  • E7ETU9_HUMAN
  • F8WEW3_HUMAN
  • Q96AR9_HUMAN
  • Q96QU5_HUMAN
genes like me logo Genes that share paralogs with PLOD2: view

Variants for PLOD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLOD2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
871314 Pathogenic: not provided 146,079,115(-) C/A
NM_182943.3(PLOD2):c.1500+1G>T
SPLICE_DONOR
900155 Uncertain Significance: Bruck syndrome 2 146,071,053(-) C/T
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)
MISSENSE
900156 Uncertain Significance: Bruck syndrome 2 146,071,060(-) G/A
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)
SYNONYMOUS
900157 Uncertain Significance: Bruck syndrome 2 146,071,277(-) C/T
NM_182943.3(PLOD2):c.1995G>A (p.Lys665=)
SYNONYMOUS
900158 Uncertain Significance: Bruck syndrome 2 146,071,330(-) G/A
NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLOD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLOD2 Gene

Variant ID Type Subtype PubMed ID
nsv1011146 CNV loss 25217958
nsv4046 CNV deletion 18451855
nsv525829 CNV loss 19592680

Variation tolerance for PLOD2 Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLOD2 Gene

Human Gene Mutation Database (HGMD)
PLOD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLOD2
Leiden Open Variation Database (LOVD)
PLOD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLOD2 Gene

Disorders for PLOD2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PLOD2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
bruck syndrome 2
  • brks2
bruck syndrome
  • osteogenesis imperfecta with congenital joint contractures
cleft soft palate
  • cleft velum
clubfoot
  • congenital clubfoot
familial clubfoot with or without associated lower limb anomalies
- elite association - COSMIC cancer census association via MalaCards
Search PLOD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLOD2_HUMAN
  • Bruck syndrome 2 (BRKS2) [MIM:609220]: An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. {ECO:0000269 PubMed:12881513, ECO:0000269 PubMed:15523624, ECO:0000269 PubMed:22689593}. Note=The disease is caused by variants affecting the gene represented in this entry. The molecular defect leading to Bruck syndrome is an aberrant cross-linking of bone collagen, due to underhydroxylation of lysine residues within the telopeptides of type I collagen, whereas the lysine residues in the triple helix are normal.

Additional Disease Information for PLOD2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PLOD2: view

No data available for Genatlas for PLOD2 Gene

Publications for PLOD2 Gene

  1. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. (PMID: 15523624) Ha-Vinh R … Bonafé L (American journal of medical genetics. Part A 2004) 3 4 22 72
  2. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. (PMID: 12881513) van der Slot AJ … Bank RA (The Journal of biological chemistry 2003) 3 4 22 72
  3. Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle. (PMID: 9054364) Valtavaara M … Myllylä R (The Journal of biological chemistry 1997) 2 3 4 22
  4. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. (PMID: 22689593) Puig-Hervás MT … Ruiz-Perez VL (Human mutation 2012) 3 4 72
  5. Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene. (PMID: 10372558) Yeowell HN … Walker LC (Matrix biology : journal of the International Society for Matrix Biology 1999) 3 4 22

Products for PLOD2 Gene

Sources for PLOD2 Gene