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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL27A1 Gene

protein-coding GIFtS: 49
GCID: GC09P116917

collagen, type XXVII, alpha 1

Explore 2 diseases affiliated with
COL27A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Collagen, Type XXVII, Alpha 1¹ ²
KIAA1870¹ ³ ⁵
FLJ11895¹
MGC11337¹
Collagen Alpha-1(XXVII) Chain²

External Ids:	HGNC: 22986¹	Entrez Gene: 85301²	Ensembl: ENSG00000196739⁷	OMIM: 608461⁵	UniProtKB: Q8IZC6³

Export aliases for COL27A1 gene to outside databases

Previous GC identifers: GC09P110371 GC09P112294 GC09P112293 GC09P113997 GC09P115957 GC09P086524

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL27A1:

Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. They

form major structural elements in extracellular matrices of cartilage, skin, and tendon (Boot-Handford et al., 2003

(PubMed 12766169)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: CORA1_HUMAN, Q8IZC6

Function: Plays a role during the calcification of cartilage and the transition of cartilage to bone

Gene Wiki entry for COL27A1 (Collagen, type XXVII, alpha 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL27A1 gene promoter:
RFX1 ISGF-3 NCX/Ncx XBP-1 RelA Nkx2-5 Nkx5-1 Egr-4 PPAR-alpha Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL27A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL27A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL27A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q32 Ensembl cytogenetic band: 9q32 HGNC cytogenetic band: 9q33.1

COL27A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL27A1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P116917: view genomic region (about GC identifiers)

Start:	116,917,840 bp from pter	End:	117,074,791 bp from pter
Size:	156,952 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CORA1_HUMAN, Q8IZC6 (See protein sequence)

Recommended Name: Collagen alpha-1(XXVII) chain precursor

Size: 1860 amino acids; 186892 Da

Subcellular location: Secreted, extracellular space, extracellular matrix. Note=Found on some small banded collagen

fibrils and meshworks (By similarity)

Developmental stage: Detected at E67 in the primary ossification center and is tightly restricted to the pericellular

region of the hypertrophic chondrocytes and lacunae at the very center of the future diaphysis. At fetal 20-week

highly abundant in the hypertrophic zone at the chondroosseous junction. Weakly detected around cells in the resting

and proliferative zone of the cartilaginous plate, but the intense detection occurred deep in the hypertrophic zone

near the newly formed bone. Detected throughout the extracellular matrix (ECM) in this zone it is also closely

situated around hypertrophic chondrocytes

Sequence caution: Sequence=BAB47499.1; Type=Erroneous initiation;

Secondary accessions: Q66K43 Q96JF7

Alternative splicing: 3 isoforms: Q8IZC6-1 Q8IZC6-2 Q8IZC6-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL27A1: NX_Q8IZC6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IZC6

COL27A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_116277.2

ENSEMBL proteins:

ENSP00000348385 ENSP00000391328 ENSP00000432928

Reactome Protein details: Q8IZC6
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005581	collagen	--	--
GO:0005583	fibrillar collagen	IEA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--

COL27A1 for ontologies About GeneDecksing

COL27A1 Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COL27A1 for domains About GeneDecksing

4 InterPro domains/families:

IPR001791 Laminin_G

IPR000885 Fib_collagen_C

IPR008160 Collagen

IPR008985 ConA-like_lec_gl_sf

Graphical View of Domain Structure for InterPro Entry Q8IZC6

ProtoNet protein and cluster: Q8IZC6

3 Blocks protein families:

IPB003129 Thrombospondin

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CORA1_HUMAN, Q8IZC6

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)

Similarity: Belongs to the fibrillar collagen family

Similarity: Contains 16 collagen-like domains

Similarity: Contains 1 fibrillar collagen NC1 domain

Similarity: Contains 1 laminin G-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CORA1_HUMAN, Q8IZC6

Function: Plays a role during the calcification of cartilage and the transition of cartilage to bone

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL27A1
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate COL27A1
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL27A1 (see all 7) OriGene shRNA RFP: COL27A1 OriGene siRNA: COL27A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL27A1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for COL27A1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL27A1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL27A1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COL27A1 (NM_032888)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for COL27A1
		Search LifeMap BioReagents cell lines for COL27A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL27A1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	IEA	--
GO:0046872	metal ion binding	IEA	--

COL27A1 for ontologies About GeneDecksing

Animal Models:
8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Col27a1):

craniofacial	embryogenesis	growth/size	limbs/digits/tail	mortality/aging
reproductive system	respiratory system	skeleton

COL27A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Collagen formation

Collagen formation	1.00	Extracellular matrix organization	0.54
Collagen biosynthesis and modifying enzymes	0.74	Secretion of collagens	0.49
Assembly of collagen fibrils and other multimeric structures	0.65

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Formation of collagen fibres

Formation of collagen fibrils

1.00

Formation of collagen fibres

1.00

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL27A1 (see all 15)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

5/7 Reactome Pathways for COL27A1 (see all 7)

	Extracellular matrix organization
	Formation of collagen fibrils
	Secretion of collagens
	Collagen biosynthesis and modifying enzymes
	Assembly of collagen fibrils and other multimeric structures

COL27A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COL27A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/41 Interacting proteins for COL27A1 (Q8IZC6² ENSP00000348385⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COL10A1	ENSP00000243222⁴	STRING: ENSP00000243222
COL11A1	ENSP00000351163⁴	STRING: ENSP00000351163
COL12A1	ENSP00000325146⁴	STRING: ENSP00000325146
COL13A1	ENSP00000348695⁴	STRING: ENSP00000348695
COL15A1	ENSP00000364140⁴	STRING: ENSP00000364140

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030198	extracellular matrix organization	TAS	--

COL27A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL27A1
Search CenterWatch for drugs/clinical trials and news about COL27A1 / CORA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COL27A1 gene:

NM_032888.2

Unigene Cluster for COL27A1:

Collagen, type XXVII, alpha 1

Hs.494892 [show with all ESTs]

Unigene Representative Sequence: NM_032888

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356083(uc011lxl.2 uc004bii.3) ENST00000451716(uc010mvd.2)

ENST00000494090 ENST00000485397 ENST00000477421 ENST00000494780 ENST00000490831

ENST00000468565(uc011lxn.2)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL27A1
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL27A1 (see all 7) OriGene shRNA RFP: COL27A1 OriGene siRNA: COL27A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL27A1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL27A1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL27A1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COL27A1 (NM_032888)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL27A1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL27A1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL27A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat COL27A1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL27A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL27A1

Additional cDNA sequence:

AB058773.1 AK021957.1 AK022485.1 AK126618.1 AY149237.1 BC006310.2 BC007696.2 BC035728.1

BC080610.1

13 DOTS entries:

DT.95123908 DT.100042019 DT.100042018 DT.304879 DT.91898453 DT.100751755 DT.91944445 DT.97820741

DT.100705772 DT.92414445 DT.95363659 DT.97781005 DT.91850854

24/231 AceView cDNA sequences (see all 231):

AI219483 BC035728 AI241355 BU742346 CK902445 AU120087 AA331004 BI767914

N77870 AW439355 AI470120 BF512585 CA420731 AI500558 AI066598 AI248067

BE041529 AI284654 AA252890 CB215676 AK021957 CR605514 BQ001022 AY149237

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COL27A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

COL27A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Adipose

Interscapular Brown Adipose Depot

Adipose

Bone

Autopod Long Bone

Bone

Endochondral Facial Bones

Bone

Bone

Bone

Bone

Cartilage

Limb

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

See COL27A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL27A1

SOURCE GeneReport for Unigene cluster: Hs.494892

SABiosciences Custom PCR Arrays for COL27A1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL27A1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL27A1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for COL27A1 gene from 3/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL27A1¹	collagen, type XXVII, alpha 1	66.89(n) 68.88(a)		417231 XM_415514.3 XP_415514.3
lizard (Anolis carolinensis)	Reptilia	COL27A1⁶	--	62(a)	1 ↔ 1	GL343398.1(812073-921137)
zebrafish (Danio rerio)	Actinopterygii	col27a1b¹	collagen, type XXVII, alpha 1b	62.05(n) 63.37(a)		560145 NM_001080575.1 NP_001074044.1

ENSEMBL Gene Tree for COL27A1 (if available)
TreeFam Gene Tree for COL27A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COL27A1 gene

COL4A6² COL19A1² COL11A2² COL4A5² COL24A1² COL4A4² COL5A3² COL1A1²

COL16A1² COL4A2² COL5A2² COL5A1² COL4A3² COL22A1² COL7A1² COL1A2²

COL2A1² COL3A1² COL4A1² COL11A1²

6 SIMAP similar genes for COL27A1 using alignment to 4 protein entries: CORA1_HUMAN (see all proteins):

COL24A1 COL14A1 C1QTNF9 C1QTNF9B COL6A2 COL7A1

COL27A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34536254^1,2	C	--	86552925(+)	`GTGGA-/GGGGGCA`	1	--	int¹		2		NA CSA	4
rs184118454^1,2		--	116916280(+)	`TCGACA/CGAGCC`	1	--	us2k¹		0	--	--	--	--
rs114816790^1,2	C	--	116916736(+)	`GGAGGG/TGGGTA`	1	--	us2k¹		0	--	--	--	--
rs139258659^1,2	C,	--	116916736(+)	`GGAGG-/TGGGTA`	1	--	us2k¹		0	--	--	--	--
rs140158631^1,2		--	116916890(+)	`GCCTGC/TGTAAG`	1	--	us2k¹		0	--	--	--	--
rs1469599^1,2	C,F,A,H,	--	116916904(-)	`CATGCA/CCACGG`	1	--	us2k¹		21		MN NS EA NA WA CSA	2156
rs1469598^1,2	C,F,A,H,	--	116916931(-)	`CACGCT/CGATAC`	1	--	us2k¹		27		NS EA NA CSA WA	2774
rs143601047^1,2		--	116917007(+)	`GAATGG/TGACCG`	1	--	us2k¹		0	--	--	--	--
rs146299631^1,2		--	116917100(+)	`GCTCGC/TGAACG`	1	--	us2k¹		0	--	--	--	--
rs139650651^1,2		--	116917227(+)	`CCGAGG/TGAGTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COL27A1 (116917840 - 117074791 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for COL27A1
9 CNVs: 29805 53071 53443 29806 53884 5263 53247 29804 5264

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL27A1

DNA2.0 Custom Variant and Variant Library Synthesis for COL27A1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

COL27A1 for disorders           About GeneDecksing

OMIM gene information: 608461    OMIM disorders: --

2 diseases for COL27A1:    About MalaCards

cleft lip/palate cleft lip

Human Genome Epidemiology (HuGE) Navigator: COL27A1 (2 documents)

Export disorders for COL27A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for COL27A1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with COL27A1)

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A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. (PubMed id 12766169)^{1, 3} Boot-Handford R.P....Poulsom R. (2003)
Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. (PubMed id 12714037)^{1, 2} Pace J.M.... Byers P.H. (2003)
Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)^{1, 2} Nagase T.... Ohara O. (2001)
The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. (PubMed id 15922909)^{1, 9} Jenkins E....Bridgewater L.C. (2005)
Genome-wide association study of Tourette's syndrome. (PubMed id 22889924)¹ Scharf J.M.... D.L. (2012)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)¹ Gudbjartsson D.F....Stefansson K. (2008)
Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)¹ Vieira A.R....Marazita M.L. (2008)
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. (PubMed id 17693149)² Hjorten R.... Pace J.M. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 85301	HGNC: 22986	AceView: COL27A1	Ensembl:ENSG00000196739	euGenes: HUgn85301
ECgene: COL27A1	H-InvDB: COL27A1

(According to HUGE)
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HUGE: KIAA1870

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for COL27A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COL27A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for COL27A1 gene:
Search GeneIP for patents involving COL27A1

GeneCards and IP:
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COL27A1 Gene

collagen, type XXVII, alpha 1

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COL27A1 Gene

collagen, type XXVII, alpha 1

Aliasesfor COL27A1 gene

Summariesfor COL27A1 gene

Genomic Viewsfor COL27A1 gene

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Protein Domains /Familiesfor COL27A1 gene

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for COL27A1 gene

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