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Aliases for COL1A2 Gene

Aliases for COL1A2 Gene

  • Collagen, Type I, Alpha 2 2 3
  • Alpha-2 Type I Collagen 3 4
  • Alpha 2(I)-Collagen 2 3
  • Type I Procollagen 2 3
  • Collagen Of Skin, Tendon And Bone, Alpha-2 Chain 3
  • Osteogenesis Imperfecta Type IV 2
  • Collagen I, Alpha-2 Polypeptide 3
  • Collagen Alpha-2(I) Chain 3
  • Alpha-2 Collagen Type I 2
  • Alpha-2 Polypeptide 2
  • Collagen Of Skin 2
  • Tendon And Bone 2
  • Alpha-2 Chain 2
  • Collagen I 2
  • OI4 3

External Ids for COL1A2 Gene

Previous HGNC Symbols for COL1A2 Gene

  • OI4

Previous GeneCards Identifiers for COL1A2 Gene

  • GC07P092559
  • GC07P093622
  • GC07P093636
  • GC07P093668
  • GC07P093861
  • GC07P094023
  • GC07P088631

Summaries for COL1A2 Gene

Entrez Gene Summary for COL1A2 Gene

  • This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

GeneCards Summary for COL1A2 Gene

COL1A2 (Collagen, Type I, Alpha 2) is a Protein Coding gene. Diseases associated with COL1A2 include osteogenesis imperfecta, type iv and osteogenesis imperfecta, type iii. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include identical protein binding and protein binding, bridging. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL1A2 Gene

  • Type I collagen is a member of group I collagen (fibrillar forming collagen)

Gene Wiki entry for COL1A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL1A2 Gene

Genomics for COL1A2 Gene

Regulatory Elements for COL1A2 Gene

Genomic Location for COL1A2 Gene

Start:
94,394,561 bp from pter
End:
94,431,232 bp from pter
Size:
36,672 bases
Orientation:
Plus strand

Genomic View for COL1A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL1A2 Gene

Proteins for COL1A2 Gene

  • Protein details for COL1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08123-CO1A2_HUMAN
    Recommended name:
    Collagen alpha-2(I) chain
    Protein Accession:
    P08123
    Secondary Accessions:
    • P02464
    • Q13897
    • Q13997
    • Q13998
    • Q14038
    • Q14057
    • Q15177
    • Q15947
    • Q16480
    • Q16511
    • Q7Z5S6
    • Q9UEB6
    • Q9UEF9
    • Q9UM83
    • Q9UMI1
    • Q9UML5
    • Q9UMM6
    • Q9UPH0

    Protein attributes for COL1A2 Gene

    Size:
    1366 amino acids
    Molecular mass:
    129314 Da
    Quaternary structure:
    • Trimers of one alpha 2(I) and two alpha 1(I) chains

neXtProt entry for COL1A2 Gene

Proteomics data for COL1A2 Gene at MOPED

Post-translational modifications for COL1A2 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Thr1138 and Asn1267
  • Modification sites at PhosphoSitePlus

Other Protein References for COL1A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COL1A2 Gene

Domains for COL1A2 Gene

Gene Families for COL1A2 Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P08123

UniProtKB/Swiss-Prot:

CO1A2_HUMAN :
  • P08123
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Contains 1 fibrillar collagen NC1 domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL1A2: view

Function for COL1A2 Gene

Molecular function for COL1A2 Gene

GENATLAS Biochemistry: collagen type I,alpha 2,fibril forming,putative down-regulated c-Myc target gene,
UniProtKB/Swiss-Prot Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

Gene Ontology (GO) - Molecular Function for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 8982144
GO:0005515 protein binding IPI 18375391
GO:0030674 protein binding, bridging IMP 18375391
GO:0042802 identical protein binding IDA 17211858
GO:0046332 SMAD binding IEA --
genes like me logo Genes that share ontologies with COL1A2: view
genes like me logo Genes that share phenotypes with COL1A2: view

Animal Models for COL1A2 Gene

MGI Knock Outs for COL1A2:

Animal Model Products

CRISPR Products

miRNA for COL1A2 Gene

miRTarBase miRNAs that target COL1A2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL1A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for COL1A2 Gene

Localization for COL1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL1A2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL1A2 Gene COMPARTMENTS Subcellular localization image for COL1A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
nucleus 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005584 collagen type I trimer TAS 6267597
GO:0005615 extracellular space IDA 18375391
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL1A2: view

Pathways for COL1A2 Gene

genes like me logo Genes that share pathways with COL1A2: view

PCR Array Products

Gene Ontology (GO) - Biological Process for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 17955022
GO:0001568 blood vessel development IMP 17211858
GO:0006898 receptor-mediated endocytosis TAS --
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 17217948
GO:0007266 Rho protein signal transduction IDA 17217948
genes like me logo Genes that share ontologies with COL1A2: view

Compounds for COL1A2 Gene

(1) HMDB Compounds for COL1A2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for COL1A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Collagenase
9001-12-1 target

(25) Novoseek inferred chemical compound relationships for COL1A2 Gene

Compound -log(P) Hits PubMed IDs
mspi 68.1 14
procollagen 65.3 3
rsai 62.8 6
nppa 58.7 2
ecori 39.4 6
genes like me logo Genes that share compounds with COL1A2: view

Transcripts for COL1A2 Gene

Unigene Clusters for COL1A2 Gene

Collagen, type I, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL1A2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL1A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2: - - - - - - - - - - - - - - - - - -
SP3:
SP4:
SP5: - - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40a · 40b ^ 41a · 41b · 41c ^ 42 ^ 43a ·
SP1: - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP3: - - -
SP4: -
SP5: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP6: - -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 43b ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b · 46c · 46d ^ 47a · 47b ^ 48a · 48b · 48c ^ 49 ^ 50
SP1: - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for COL1A2 Gene

GeneLoc Exon Structure for
COL1A2
ECgene alternative splicing isoforms for
COL1A2

Expression for COL1A2 Gene

mRNA expression in normal human tissues for COL1A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL1A2 Gene

SOURCE GeneReport for Unigene cluster for COL1A2 Gene Hs.489142

mRNA Expression by UniProt/SwissProt for COL1A2 Gene

P08123-CO1A2_HUMAN
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite
genes like me logo Genes that share expressions with COL1A2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for COL1A2 Gene

Orthologs for COL1A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL1A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL1A2 35
  • 99.71 (n)
  • 99.78 (a)
COL1A2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL1A2 35
  • 89.96 (n)
  • 92.52 (a)
COL1A2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL1A2 35
  • 91.63 (n)
  • 94.36 (a)
COL1A2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col1a2 35
  • 87.65 (n)
  • 89.9 (a)
Col1a2 16
Col1a2 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL1A2 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL1A2 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col1a2 35
  • 88.51 (n)
  • 91.07 (a)
chicken
(Gallus gallus)
Aves COL1A2 35
  • 80.16 (n)
  • 83.66 (a)
COL1A2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL1A2 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia col1a2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia col1a2 35
  • 74.33 (n)
  • 75.59 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11699 35
zebrafish
(Danio rerio)
Actinopterygii col1a2 35
  • 70.86 (n)
  • 71.21 (a)
col1a2 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 36
  • 49 (a)
OneToMany
Species with no ortholog for COL1A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COL1A2 Gene

ENSEMBL:
Gene Tree for COL1A2 (if available)
TreeFam:
Gene Tree for COL1A2 (if available)

Paralogs for COL1A2 Gene

Selected SIMAP similar genes for COL1A2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with COL1A2: view

Variants for COL1A2 Gene

Sequence variations from dbSNP and Humsavar for COL1A2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs663 -- 94,429,328(+) ACTGG(A/C)AACCT synonymous-codon, reference
rs664 -- 94,425,207(+) CTCCT(A/G)GTGAA missense, reference
rs2472 -- 94,422,138(+) ATCAG(C/T)TTAAG intron-variant
rs3917 -- 94,431,047(-) GAAGA(-/GGACAAC)TTTGG utr-variant-3-prime
rs4266 -- 94,421,296(+) CAGTT(G/T)AATTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL1A2 Gene

Variant ID Type Subtype PubMed ID
nsv464642 CNV Loss 19166990
esv2734832 CNV Deletion 23290073
esv2734833 CNV Deletion 23290073

Relevant External Links for COL1A2 Gene

HapMap Linkage Disequilibrium report
COL1A2
Human Gene Mutation Database (HGMD)
COL1A2
Locus Specific Mutation Databases (LSDB)
COL1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL1A2 Gene

Disorders for COL1A2 Gene

(6) OMIM Diseases for COL1A2 Gene (120160)

UniProtKB/Swiss-Prot

CO1A2_HUMAN
  • Ehlers-Danlos syndrome 7B (EDS7B) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. {ECO:0000269 PubMed:1577745, ECO:0000269 PubMed:2394758, ECO:0000269 PubMed:3680255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. {ECO:0000269 PubMed:16705691, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:1990009, ECO:0000269 PubMed:8456807, ECO:0000269 PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. {ECO:0000269 PubMed:10627137, ECO:0000269 PubMed:1284475, ECO:0000269 PubMed:1339453, ECO:0000269 PubMed:1385413, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:1874719, ECO:0000269 PubMed:18996919, ECO:0000269 PubMed:2777764, ECO:0000269 PubMed:2914942, ECO:0000269 PubMed:7693712, ECO:0000269 PubMed:7891382, ECO:0000269 PubMed:7906591, ECO:0000269 PubMed:7959683, ECO:0000269 PubMed:8182080, ECO:0000269 Ref.33}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV) [MIM:225320]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency. {ECO:0000269 PubMed:16816023}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. {ECO:0000269 PubMed:10408781, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:1990009, ECO:0000269 PubMed:7520724, ECO:0000269 PubMed:7720740, ECO:0000269 PubMed:7749416, ECO:0000269 PubMed:7860070, ECO:0000269 PubMed:7881420, ECO:0000269 PubMed:8081394, ECO:0000269 PubMed:8444468, ECO:0000269 PubMed:8456807, ECO:0000269 PubMed:8723681, ECO:0000269 PubMed:8800927, ECO:0000269 PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. {ECO:0000269 PubMed:1642148, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:2052622, ECO:0000269 PubMed:2064612, ECO:0000269 PubMed:2897363, ECO:0000269 PubMed:7693712, ECO:0000269 PubMed:8094076, ECO:0000269 PubMed:8401517, ECO:0000269 PubMed:8800927}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1.

(28) Novoseek inferred disease relationships for COL1A2 Gene

Disease -log(P) Hits PubMed IDs
osteogenesis imperfecta 94.5 65
oi, type i 90.5 6
oi, type iv 90 8
osteogenesis imperfecta, type ii 88.7 4
oi, type iii 88.5 5

Relevant External Links for COL1A2

GeneTests
COL1A2
GeneReviews
COL1A2
Genetic Association Database (GAD)
COL1A2
Human Genome Epidemiology (HuGE) Navigator
COL1A2
genes like me logo Genes that share disorders with COL1A2: view

Publications for COL1A2 Gene

  1. The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix. (PMID: 1990009) Wenstrup R.J. … Cohn D.H. (J. Biol. Chem. 1991) 3 4 23
  2. Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (PMID: 2052622) Spotila L.D. … Prockop D.J. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 23
  3. Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. (PMID: 7720740) Raghunath M. … Steinmann B. (Eur. J. Pediatr. 1995) 3 4 23
  4. A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. (PMID: 7860070) Rose N.J. … Dalgleish R. (Hum. Genet. 1995) 3 4 23
  5. Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. (PMID: 7891382) Gomez Lira M. … Mottes M. (J. Med. Genet. 1994) 3 4 23

Products for COL1A2 Gene

Sources for COL1A2 Gene

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