COL27A1 Gene (Protein Coding)

Collagen Type XXVII Alpha 1 Chain

GC09P114827
GIFtS:
40
This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombos... See more...

Aliases for COL27A1 Gene

Aliases for COL27A1 Gene

  • Collagen Type XXVII Alpha 1 Chain 2 3 5
  • Collagen, Type XXVII, Alpha 1 2 3
  • Collagen Alpha-1(XXVII) Chain 3 4
  • KIAA1870 2 4
  • Collagen Type XXVII Alpha 1 2
  • MGC11337 2
  • FLJ11895 2
  • COL27A1 5
  • STLS 3

External Ids for COL27A1 Gene

Previous GeneCards Identifiers for COL27A1 Gene

  • GC09P110371
  • GC09P112294
  • GC09P112293
  • GC09P113997
  • GC09P115957
  • GC09P116917
  • GC09P086524
  • GC09P114155
  • GC09P114402
  • GC09P114454
  • GC09P114458
  • GC09P114643
  • GC09P114156
  • GC09P114268
  • GC09P114266
  • GC09P114267
  • GC09P114269
  • GC09P114337

Summaries for COL27A1 Gene

Entrez Gene Summary for COL27A1 Gene

  • This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

GeneCards Summary for COL27A1 Gene

COL27A1 (Collagen Type XXVII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL27A1 include Steel Syndrome and Esophagus Carcinoma In Situ. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL24A1.

UniProtKB/Swiss-Prot Summary for COL27A1 Gene

  • Plays a role during the calcification of cartilage and the transition of cartilage to bone.

Gene Wiki entry for COL27A1 Gene

Additional gene information for COL27A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL27A1 Gene

Genomics for COL27A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for COL27A1 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
GH09J114153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 609.3 +2.6 2568 6.6 HNRNPL GATAD2A CTCF TEAD4 PRDM10 TFE3 KDM1A ZNF692 RCOR2 PRDM1 COL27A1 CDC26 lnc-KIF12-2 lnc-ZNF618-2 lnc-KIF12-3 ORM1
GH09J114168 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.4 +14.3 14293 0.1 COL27A1 MIR455 lnc-ZNF618-2 lnc-KIF12-3 ORM1
GH09J114169 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.1 +19.5 19482 9.5 HNRNPL GATAD2A TFE3 KDM1A RCOR2 JUND PKNOX1 RBFOX2 RXRB IRF2 COL27A1 PRPF4 MIR455 ORM1 lnc-KIF12-3 lnc-ZNF618-2
GH09J114180 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.9 +27.0 27014 2.6 RBM22 NR2F2 ZNF189 HNF4A RXRA HNF4G SP1 COL27A1 MIR455 lnc-KIF12-3 ORM1
GH09J114586 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +436.0 435963 7.3 HNRNPL CREB1 GATAD2A ATF7 REST TFE3 NFKBIZ ZNF692 POLR2A NFRKB ATP6V1G1 WHRN ZNF618 ENSG00000201749 COL27A1 TMEM268 TNFSF8 AKNA piR-40482
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL27A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL27A1

Top Transcription factor binding sites by QIAGEN in the COL27A1 gene promoter:
  • Egr-4
  • Hlf
  • ISGF-3
  • NCX
  • Nkx2-5
  • Nkx5-1
  • PPAR-alpha
  • RelA
  • RFX1
  • XBP-1

Genomic Locations for COL27A1 Gene

Genomic Locations for COL27A1 Gene
chr9:114,154,271-114,312,511
(GRCh38/hg38)
Size:
158,241 bases
Orientation:
Plus strand
chr9:116,917,840-117,074,791
(GRCh37/hg19)
Size:
156,952 bases
Orientation:
Plus strand

Genomic View for COL27A1 Gene

Genes around COL27A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL27A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL27A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for COL27A1 Gene

Proteins for COL27A1 Gene

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  • Protein details for COL27A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZC6-CORA1_HUMAN
    Recommended name:
    Collagen alpha-1(XXVII) chain
    Protein Accession:
    Q8IZC6
    Secondary Accessions:
    • Q66K43
    • Q96JF7

    Protein attributes for COL27A1 Gene

    Size:
    1860 amino acids
    Molecular mass:
    186892 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47499.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for COL27A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL27A1 Gene

Protein Expression for COL27A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for COL27A1 Gene

  • Glycosylation at Asn271 and Asn1769
  • Modification sites at PhosphoSitePlus

Other Protein References for COL27A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL27A1 Gene

Domains & Families for COL27A1 Gene

Gene Families for COL27A1 Gene

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

Protein Domains for COL27A1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Thrombospondin, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for COL27A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(XXVII) chain (CORA1_HUMAN)
  • Collagen, type XXVII, alpha 1 (Q5T1U7_HUMAN)
  • cDNA FLJ11895 fis, clone HEMBA1007301, weakly similar to COLLAGEN ALPHA 1(III) CHAIN (Q9HAA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZC6

UniProtKB/Swiss-Prot:

CORA1_HUMAN :
  • 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).
  • Belongs to the fibrillar collagen family.
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).
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL27A1: view

Function for COL27A1 Gene

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Molecular function for COL27A1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role during the calcification of cartilage and the transition of cartilage to bone.

Phenotypes From GWAS Catalog for COL27A1 Gene

Gene Ontology (GO) - Molecular Function for COL27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0030020 extracellular matrix structural constituent conferring tensile strength HDA 28344315
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL27A1: view
genes like me logo Genes that share phenotypes with COL27A1: view

Human Phenotype Ontology for COL27A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for COL27A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL27A1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COL27A1 Gene

Localization for COL27A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL27A1 Gene

Secreted, extracellular space, extracellular matrix. Note=Found on some small banded collagen fibrils and meshworks. {ECO:0000250}.

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 COL27A1 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 2
mitochondrion 2
nucleus 2
cytoskeleton 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for COL27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005583 fibrillar collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL27A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL27A1 Gene

Pathways & Interactions for COL27A1 Gene

PathCards logo

SuperPathways for COL27A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
Collagen biosynthesis and modifying enzymes
.75
Collagen formation
.75
Collagen chain trimerization
.67
Assembly of collagen fibrils and other multimeric structures
.65
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
Protein digestion and absorption
.34
2 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Phospholipase-C Pathway
Phospholipase-C Pathway
.56
PTEN Pathway
.56
5 Degradation of the extracellular matrix
Extracellular matrix organization
.38
genes like me logo Genes that share pathways with COL27A1: view

Pathways by source for COL27A1 Gene

1 KEGG pathway for COL27A1 Gene
15 Qiagen pathways for COL27A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Interacting Proteins for COL27A1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000348385 Q8IZC6-CORA1_HUMAN for COL27A1 Gene via STRING IID

GPS-Prot Interaction Network for COL27A1

Gene Ontology (GO) - Biological Process for COL27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003431 growth plate cartilage chondrocyte development IEA --
GO:0030198 extracellular matrix organization IEA,IBA 21873635
genes like me logo Genes that share ontologies with COL27A1: view

No data available for SIGNOR curated interactions for COL27A1 Gene

Drugs & Compounds for COL27A1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for COL27A1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for COL27A1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL27A1

Alternative Splicing Database (ASD) splice patterns (SP) for COL27A1 Gene

No ASD Table

Relevant External Links for COL27A1 Gene

GeneLoc Exon Structure for
COL27A1

Expression for COL27A1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL27A1 Gene

mRNA expression in normal human tissues for COL27A1 Gene
mRNA expression by BioGPS for COL27A1 GenemRNA expression by GTEx for COL27A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL27A1 Gene

This gene is overexpressed in Brain - Cerebellum (x5.8), Brain - Cerebellar Hemisphere (x5.4), and Cervix - Ectocervix (x4.5).

Protein differential expression in normal tissues from HIPED for COL27A1 Gene

This gene is overexpressed in Breast (37.2) and Bone (18.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL27A1 Gene



Protein tissue co-expression partners for COL27A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL27A1

SOURCE GeneReport for Unigene cluster for COL27A1 Gene:

Hs.494892

Evidence on tissue expression from TISSUES for COL27A1 Gene

  • Skin(4.5)
  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL27A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • eye
  • face
  • forehead
  • head
  • nose
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • forearm
  • radius
  • upper limb
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COL27A1: view

No data available for mRNA Expression by UniProt/SwissProt for COL27A1 Gene

Orthologs for COL27A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL27A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia COL27A1 30 31
  • 96.64 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia COL27A1 30 31
  • 88.3 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia COL27A1 30 31
  • 87.19 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Col27a1 30 17 31
  • 82.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Col27a1 30
  • 81.91 (n)
Oppossum
(Monodelphis domestica)
 Mammalia COL27A1 31
  • 68 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 34 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves COL27A1 30
  • 68.96 (n)
Lizard
(Anolis carolinensis)
 Reptilia COL27A1 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490770 30
  • 63.16 (n)
Zebrafish
(Danio rerio)
 Actinopterygii col27a1b 31
  • 58 (a)
 OneToMany
col27a1a 31
  • 55 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 38 (a)
 OneToMany
Species where no ortholog for COL27A1 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • 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 COL27A1 Gene

ENSEMBL:
Gene Tree for COL27A1 (if available)
TreeFam:
Gene Tree for COL27A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL27A1: view image

Paralogs for COL27A1 Gene

Paralogs for COL27A1 Gene

(5) SIMAP similar genes for COL27A1 Gene using alignment to 4 proteins:

  • CORA1_HUMAN
  • H0YD40_HUMAN
  • Q5T1U7_HUMAN
  • Q9HAA3_HUMAN
genes like me logo Genes that share paralogs with COL27A1: view

Variants for COL27A1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL27A1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
640299 Likely Pathogenic: not provided 114,301,463(+) G/C SPLICE_DONOR_VARIANT
647036 Likely Pathogenic: not provided 114,264,354(+) G/A SPLICE_ACCEPTOR_VARIANT
692220 Uncertain Significance: Steel syndrome 114,231,822(+) G/A MISSENSE_VARIANT
708206 Benign: not provided 114,301,703(+) C/A SYNONYMOUS_VARIANT
708793 Likely Benign: not provided 114,242,209(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COL27A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL27A1 Gene

Variant ID Type Subtype PubMed ID
dgv12856n54 CNV loss 21841781
dgv12857n54 CNV loss 21841781
dgv12858n54 CNV loss 21841781
dgv12859n54 CNV gain 21841781
dgv12860n54 CNV gain 21841781
dgv33e196 CNV duplication 17116639
dgv7706n100 CNV gain 25217958
dgv946n27 CNV loss 19166990
dgv947n27 CNV loss 19166990
dgv948n27 CNV gain 19166990
dgv949n27 CNV gain 19166990
esv2761285 CNV gain 21179565
esv2761551 CNV loss 21179565
esv3302446 CNV tandem duplication 20981092
esv3385334 CNV duplication 20981092
esv3621549 CNV gain 21293372
esv3621553 CNV loss 21293372
nsv1116481 OTHER inversion 24896259
nsv1124466 CNV deletion 24896259
nsv466536 CNV loss 19166990
nsv466547 CNV gain 19166990
nsv471320 CNV gain 18288195
nsv474605 CNV novel sequence insertion 20440878
nsv509319 CNV insertion 20534489
nsv522296 CNV loss 19592680
nsv528823 CNV gain 19592680
nsv615232 CNV loss 21841781
nsv615233 CNV gain 21841781
nsv615239 CNV loss 21841781
nsv615240 CNV gain 21841781
nsv615244 CNV gain 21841781
nsv6677 CNV insertion 18451855

Variation tolerance for COL27A1 Gene

Residual Variation Intolerance Score: 92.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.51; 99.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL27A1 Gene

Human Gene Mutation Database (HGMD)
COL27A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL27A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL27A1 Gene

Disorders for COL27A1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for COL27A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
steel syndrome
  • stls
esophagus carcinoma in situ
  • carcinoma in situ of esophagus
prostate rhabdomyosarcoma
  • rhabdomyosarcoma of the prostate
ovarian lymphoma
caffey disease
  • cafyd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CORA1_HUMAN
  • Steel syndrome (STLS) [MIM:615155]: A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge. {ECO:0000269 PubMed:24986830}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL27A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with COL27A1: view

No data available for Genatlas for COL27A1 Gene

Publications for COL27A1 Gene

  1. Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. (PMID: 12714037) Pace JM … Byers PH (Matrix biology : journal of the International Society for Matrix Biology 2003) 2 3 4
  2. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. (PMID: 24986830) Gonzaga-Jauregui C … Hecht JT (European journal of human genetics : EJHG 2015) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41
  5. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 41

ExternalLinks

View latest publications for COL27A1 gene in Mastermind

Products for COL27A1 Gene

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Sources for COL27A1 Gene