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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL21A1 Gene

protein-coding GIFtS: 51
GCID: GC06M055968

collagen, type XXI, alpha 1

Explore 2 diseases affiliated with
COL21A1 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 XXI, Alpha 1¹ ²		Collagen Alpha-1(XXI) Chain²
COLA1L²		DJ682J15.1¹
Alpha 1 Chain-Like Collagen²		DJ708F5.1¹
Alpha 1 Type XXI Collagen²		COL1AL³

External Ids:	HGNC: 17025¹	Entrez Gene: 81578²	Ensembl: ENSG00000124749⁷	OMIM: 610002⁵	UniProtKB: Q96P44³

Export aliases for COL21A1 gene to outside databases

Previous GC identifers: GC06M055923 GC06M056029 GC06M055756

(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 COL21A1:

This gene encodes the alpha chain of type XXI collagen, a member of the FACIT collagen family (fibril-associated

collagens with interrupted helices). Type XXI collagen is localized to tissues containing type I collagen so, like

other members of this collagen family, it may serve to maintain the integrity of the extracellular matrix. An

alternatively spliced transcript variant has been described, but its full-length nature has yet to be determined.

(provided by RefSeq, Jul 2008)

(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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for COL21A1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL21A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL21A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL21A1

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

Entrez Gene cytogenetic band: 6p12.3-p11.2|6p12.3-p11.2 Ensembl cytogenetic band: 6p12.1 HGNC cytogenetic band: 6p12.3-p11.2

COL21A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL21A1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M055968: view genomic region (about GC identifiers)

Start:	55,921,388 bp from pter	End:	56,258,892 bp from pter
Size:	337,505 bases	Orientation:	minus 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: COLA1_HUMAN, Q96P44 (See protein sequence)

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

Size: 957 amino acids; 99369 Da

Subcellular location: Secreted, extracellular space, extracellular matrix. Cytoplasm. Note=Found in the extracellular

matrix component of blood vessel walls and in the cytoplasm of cultured human aortic smooth muscle

Developmental stage: Highest expression observed at the fetal stage. Expressed by smooth-muscle cells in the artery

wall in a PDGF-dependent way

Sequence caution: Sequence=AAH45597.1; Type=Frameshift; Positions=478;

Secondary accessions: A6NIX5 B2R8J9 Q49A51 Q71RF4 Q8WXV8 Q9H0V3

Alternative splicing: 3 isoforms: Q96P44-1 Q96P44-2 Q96P44-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL21A1: NX_Q96P44

COL21A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_110447.2

ENSEMBL proteins:

ENSP00000433624 ENSP00000244728 ENSP00000359855 ENSP00000390958 ENSP00000359853

ENSP00000444384 ENSP00000359844

Reactome Protein details: Q96P44
Human Recombinant Protein Products:

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	Novus Biologicals COL21A1 Protein Novus Biologicals COL21A1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5 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	IEA	--
GO:0005737	cytoplasm	--	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0031012	colocalizes with extracellular matrix	IDA	--

COL21A1 for ontologies About GeneDecksing

COL21A1 Antibody Products:

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	Novus Biologicals COL21A1 Antibodies
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Assay Products for COL21A1:

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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

COL21A1 for domains About GeneDecksing

5 InterPro domains/families:

IPR013320 ConA-like_subgrp

IPR001791 Laminin_G

IPR008160 Collagen

IPR008985 ConA-like_lec_gl_sf

IPR002035 VWF_A

Graphical View of Domain Structure for InterPro Entry Q96P44

ProtoNet protein and cluster: Q96P44

4 Blocks protein families:

IPB002035 Von Willebrand factor type A domain signature

IPB003129 Thrombospondin

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: COLA1_HUMAN, Q96P44

Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family

Similarity: Contains 7 collagen-like domains

Similarity: Contains 1 laminin G-like domain

Similarity: Contains 1 VWFA 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: COLA1_HUMAN, Q96P44

Induction: Stimulated by PDGF/platelet-derived growth factor

miRNA Products:		OriGene 3'-UTR Clone: COL21A1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL21A1
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate COL21A1 (see all 18):
		hsa-miR-217 hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-141* hsa-miR-155

		SwitchGear 3'UTR luciferase reporter plasmid: COL21A1 3' UTR sequence

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 COL21A1 OriGene shRNA RFP: COL21A1 OriGene siRNA: COL21A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL21A1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for COL21A1

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 COL21A1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL21A1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COL21A1 (NM_030820)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL21A1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL21A1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for COL21A1
		LifeMap BioReagents: cell line associated with COL21A1: PureStem SK11, NCr-fac & Meso-prx Progenitor

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL21A1

(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 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

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

Collagen formation

	Collagen formation	1.00			Extracellular matrix organization	0.54
	Collagen biosynthesis and modifying enzymes	0.74			Secretion of collagens	0.49

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL21A1 (see all 15)

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

4 Reactome Pathways for COL21A1

	Extracellular matrix organization
	Secretion of collagens
	Collagen biosynthesis and modifying enzymes
	Collagen formation

COL21A1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL21A1

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

5/40 Interacting proteins for COL21A1 (ENSP00000244728⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 40)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COL11A1	ENSP00000351163⁴	STRING: ENSP00000351163
COL12A1	ENSP00000325146⁴	STRING: ENSP00000325146
COL13A1	ENSP00000348695⁴	STRING: ENSP00000348695
COL14A1	ENSP00000297848⁴	STRING: ENSP00000297848
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	--

COL21A1 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 COL21A1
Search CenterWatch for drugs/clinical trials and news about COL21A1 / COLA1

(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 COL21A1 gene:

NM_030820.3

Unigene Cluster for COL21A1:

Collagen, type XXI, alpha 1

Hs.47629 [show with all ESTs]

Unigene Representative Sequence: NM_030820

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

ENST00000488912(uc011dxh.2) ENST00000244728(uc003pcs.3 uc003pct.1 uc011dxi.1)

ENST00000370819(uc010jzz.3 uc011dxg.2 uc003pcu.1) ENST00000467045(uc003pcr.3)

ENST00000467216 ENST00000482933 ENST00000461489 ENST00000484987 ENST00000469682

ENST00000456983 ENST00000370817 ENST00000535941 ENST00000370808

miRNA Products:		OriGene 3'-UTR Clone: COL21A1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL21A1
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate COL21A1 (see all 18):
		hsa-miR-217 hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-141* hsa-miR-155

		SwitchGear 3'UTR luciferase reporter plasmid: COL21A1 3' UTR sequence

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 COL21A1 OriGene shRNA RFP: COL21A1 OriGene siRNA: COL21A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL21A1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL21A1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL21A1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: COL21A1 (NM_030820)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL21A1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL21A1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL21A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat COL21A1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL21A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL21A1

Additional cDNA sequence:

AF330693.1 AF370383.1 AF414088.1 AK096444.1 AK126586.1 AK313398.1 AL136624.1 BC045597.1

BC126108.1 BC143862.1 BC143863.1 BC143864.1 BC143865.1

10 DOTS entries:

DT.444444 DT.446938 DT.102831166 DT.97858317 DT.40229664 DT.99991738 DT.100807987 DT.121324137

DT.121324150 DT.95120648

24/71 AceView cDNA sequences (see all 71):

AW169386 CD632846 AW173264 AF370383 BM680109 CB305358 BQ893743 AF330693

AI434106 BX458795 AA227783 AA490461 CA397287 BX431407 AI798190 AI933870

CD104076 AW075547 W92417 CD632840 AI189094 AI130837 AF414088 CD632838

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for COL21A1 (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	·	6d	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16a	·	16b
SP1:																																							-
SP2:											-
SP3:
SP4:									-		-
SP5:							-		-		-

ECgene alternative splicing isoforms for COL21A1

(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

COL21A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTGTTATTC

About this image

COL21A1 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

Embryoid bodies (Two-step protocol fo...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See COL21A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL21A1

SOURCE GeneReport for Unigene cluster: Hs.47629

UniProtKB/Swiss-Prot: COLA1_HUMAN, Q96P44

Tissue specificity: Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and placenta;

moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular smooth-muscle cells and

very weakly expressed in heart, liver, kidney, bone marrow, spleen, thymus, skeletal muscle, adrenal gland and

peripheral leukocytes. Expression in heart was higher in the right ventricle and atrium than in the left ventricle and

atrium

SABiosciences Custom PCR Arrays for COL21A1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL21A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat COL21A1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL21A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL21A1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL21A1

(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 COL21A1 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL21A1¹	collagen, type XXI, alpha 1	74.92(n) 77.32(a)		421885 XM_419902.3 XP_419902.3
lizard (Anolis carolinensis)	Reptilia	COL21A1⁶	--	75(a)	1 ↔ 1	GL343342.1(917972-1030496)
zebrafish (Danio rerio)	Actinopterygii	LOC100333837¹	collagen alpha-1(XXI) chain-like	62.59(n) 63.64(a)		100333837 XM_002664080.2 XP_002664126.2

ENSEMBL Gene Tree for COL21A1 (if available)
TreeFam Gene Tree for COL21A1 (if available)

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

Paralogs for COL21A1 gene

VWA1² MATN4² COL14A1² COL9A1² MATN3² MATN2² COL12A1² VIT²

COL9A3² COCH² COL9A2² COL20A1² VWA2² MATN1²

18/36 SIMAP similar genes for COL21A1 using alignment to 6 protein entries: COLA1_HUMAN (see all proteins) (see all similar genes):

VWA2 VIT MATN1 MATN2 COCH COL28A1

MATN4 COL6A3 ITGA11 COL6A5 DKFZp686K04147 COL22A1

ITGA2 VWA1 COL14A1 MATN3 ITGA1 COL6A6

COL21A1 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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181443791^1,2	C,	other	56044484(+)	`AAGTTA/C/TGGCAT`	3	K E *	mis¹ stg¹		0	--	--	--	--
rs186571018^1,2		--	55921013(+)	`AGGGGC/TGATAG`	1	--	ds500¹		0	--	--	--	--
rs201239057^1,2	C,	--	55921048(+)	`GGGCC-/TTTACTG`	1	--	ds500¹		0	--	--	--	--
rs190883489^1,2		--	55921099(+)	`ACTAAA/GCATCA`	1	--	ds500¹		0	--	--	--	--
rs144449047^1,2		--	55921141(+)	`AAATAA/GTAGAA`	1	--	ds500¹		0	--	--	--	--
rs150781812^1,2		--	55921175(+)	`CTGGG-/CCAACA`	1	--	ds500¹		0	--	--	--	--
rs57521020^1,2		--	55921260(+)	`ATTTCG/AGGTGA`	1	--	ds500¹		1		CSA	1
rs182298223^1,2		--	55921269(+)	`GAACAC/TATTTT`	1	--	ds500¹		0	--	--	--	--
rs60530234^1,2		--	55921314(+)	`CCATTA/GAATAA`	1	--	ds500¹		0	--	--	--	--
rs115442561^1,2	F,	--	55921344(+)	`ACCATA/CCTCAA`	1	--	ds500¹		1		WA	118

HapMap Linkage Disequilibrium report for COL21A1 (55921388 - 56171388 bp, first 250kb of COL21A1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for COL21A1
2 CNVs: 69525 59348

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL21A1

DNA2.0 Custom Variant and Variant Library Synthesis for COL21A1

(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

COL21A1 for disorders           About GeneDecksing

OMIM gene information: 610002    OMIM disorders: --

2 diseases for COL21A1:    About MalaCards

pneumocystosis prostatitis

Human Genome Epidemiology (HuGE) Navigator: COL21A1 (2 documents)

Export disorders for COL21A1 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 COL21A1 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with COL21A1)

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A new FACIT of the collagen family: COL21A1. (PubMed id 11566190)^{1, 2, 3, 9} Fitzgerald J. and Bateman J.F. (2001)
Genomic organization and characterization of the human type XXI collagen (COL21A1) gene. (PubMed id 11863369)^{1, 2, 9} Chou M.-Y. and Li H.-C. (2002)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (2004)
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)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)² Wan D....Gu J. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)² Mungall A.J.... Beck S. (2003)
Identification and analysis of collagen alpha 1(XXI), a novel member of the FACIT collagen family. (PubMed id 11827793)¹ Tuckwell D. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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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: 81578	HGNC: 17025	AceView: COL21A1	Ensembl:ENSG00000124749	euGenes: HUgn81578
ECgene: COL21A1	H-InvDB: COL21A1

(According to HUGE)
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(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 COL21A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COL21A1 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 COL21A1 gene:
Search GeneIP for patents involving COL21A1

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COL21A1 Gene

collagen, type XXI, alpha 1

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COL21A1 Gene

collagen, type XXI, alpha 1

Aliasesfor COL21A1 gene

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