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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COL21A1 Gene

protein-coding   GIFtS: 54
GCID: GC06M055968

Collagen, Type XXI, Alpha 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Collagen, Type XXI, Alpha 11 2     Collagen Alpha-1(XXI) Chain2
COLA1L2     dJ682J15.12
Alpha 1 Chain-Like Collagen2     dJ708F5.12
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 Gene:
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)

GeneCards Summary for COL21A1 Gene: 
COL21A1 (collagen, type XXI, alpha 1) is a protein-coding gene. Diseases associated with COL21A1 include pneumocystosis, and prostatitis, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and FAK1 Signaling. An important paralog of this gene is COL25A1.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for COL21A1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL21A1 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for COL21A1 at MOPED 

COL21A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

COL21A1 Protein Expression

REFSEQ proteins: NP_110447.2  
ENSEMBL proteins: 
 ENSP00000433624   ENSP00000244728   ENSP00000359855   ENSP00000390958   ENSP00000359853  
 ENSP00000444384   ENSP00000359844  
Reactome Protein details: Q96P44
Human Recombinant Protein Products for COL21A1: 
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OriGene Protein Over-expression Lysate for COL21A1
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GenScript Custom Purified and Recombinant Proteins Services for COL21A1
Novus Biologicals COL21A1 Protein
Novus Biologicals COL21A1 Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp. 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--
GO:0005581collagen IEA--
GO:0005788endoplasmic reticulum lumen TAS--
GO:0031012colocalizes with extracellular matrix IDA--

COL21A1 for ontologies           About GeneDecksing



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LSBio Antibodies in human, mouse, rat for COL21A1 

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
COLLAGEN: Collagens

5 InterPro protein domains:
 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 domains:
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


COL21A1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: COLA1_HUMAN, Q96P44
Induction: Stimulated by PDGF/platelet-derived growth factor

Animal Models:

   inGenious Targeting Laboratory - Custom generated mouse model solutions for COL21A1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL21A1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL21A1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL21A1 

miRNA
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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 plasmidCOL21A1 3' UTR sequence
Inhib. RNA
Products:
    
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OriGene RNAi products in human, mouse, rat for COL21A1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL21A1

Gene Editing
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GenScript: all cDNA clones in your preferred vector: COL21A1 (NM_030820)
Sino Biological Human cDNA Clone for COL21A1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL21A1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL21A1
Sirion Biotech Customized lentivirus for stable overexpression of COL21A1 
                     Customized lentivirus expression plasmids for stable overexpression of COL21A1 

Cell Line
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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, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for COL21A1 About   (see all 6)                                                                                              See pathways by source

SuperPathContained pathways About
1Collagen biosynthesis and modifying enzymes
Collagen biosynthesis and modifying enzymes0.74
Extracellular matrix organization0.39
Collagen formation0.74
Blood Coagulation Cascade0.39
Intrinsic Prothrombin Activation Pathway0.40
2Integrin Pathway
Integrin Pathway0.67
UPA-UPAR Pathway0.56
FAK1 Signaling0.67
Inhibition of Angiogenesis by TSP10.50
GnRH Signaling0.56
Transendothelial Migration of Leukocytes0.38
3Rho Family GTPases
Rho Family GTPases0.61
Molecular Mechanisms of Cancer0.51
ERK Signaling0.61
ILK Signaling0.49
MAPK Signaling0.58
4PTEN Pathway
PTEN Pathway0.56
Phospholipase-C Pathway0.56
5Proteoglycans in cancer
Proteoglycans in cancer

Pathways by source                                                                                                                                                                 See SuperPaths
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


3        Reactome Pathways for COL21A1
    Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Collagen formation


2         Kegg Pathways  (Kegg details for COL21A1):
    Protein digestion and absorption
Proteoglycans in cancer


COL21A1 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM 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)
InteractantInteraction Details
GeneCardExternal ID(s)
COL11A1ENSP000003511634STRING: ENSP00000351163
COL12A1ENSP000003251464STRING: ENSP00000325146
COL13A1ENSP000003486954STRING: ENSP00000348695
COL14A1ENSP000002978484STRING: ENSP00000297848
COL15A1ENSP000003641404STRING: ENSP00000364140
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0030198extracellular 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, Ligands according to IUPHAR, 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 (COLA1)

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

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, 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)
ENST00000482933 ENST00000467216 ENST00000461489 ENST00000484987 ENST00000469682
ENST00000456983 ENST00000370817 ENST00000535941 ENST00000370808
miRNA
Products:
     
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 plasmidCOL21A1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL21A1
Clone
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OriGene clones in human, mouse for COL21A1 (see all 6)
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
Sirion Biotech Customized lentivirus for stable overexpression of COL21A1 
                     Customized lentivirus expression plasmids for stable overexpression of COL21A1 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for COL21A1
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 mRNA 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):

CD632846 AW169386 AA490461 CA397287 BM680109 CB305358 AI434106 AF330693 
BQ893743 AW173264 AF370383 AA227783 BX458795 AI580819 AL136624 CD632838 
AA095402 AA725817 BC045597 CD632842 CD632848 AK126586 CD632844 N84635 

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)      COL21A1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTGTTATTC
COL21A1 Expression
About this image


COL21A1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/7 selected tissues (see all 7) fully expand
 
 Endothelium (Cardiovascular System)    fully expand to see all 2 entries
         Embryoid bodies ( Two-step protocol for endothelial differentiation by embryoid...
 
 Paraxial Mesoderm (Gastrulation Derivatives)
         PureStem SK11, NCr-fac & Meso-prx Progenitor
 
 Neural Crest (Gastrulation Derivatives)
         PureStem SK11, NCr-fac & Meso-prx Progenitor
 
 Pancreas (Endocrine System)
         Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
 
 Bone (Muscoskeletal System)
         HyStem+BMP4-induced SK11 cells

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
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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 animals.

Orthologs for COL21A1 gene from 5/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia COL21A11 collagen, type XXI, alpha 1 91.54(n)
92.27(a)
  474945  XM_532180.3  XP_532180.3 
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
Uncharacterized protein
75(a)
1 ↔ 1
GL343342.1(915648-1030496)
zebrafish
(Danio rerio)
Actinopterygii LOC1003338371 collagen alpha-1(XXI) chain-like 62.59(n)
63.64(a)
  100333837  XM_002664080.2  XP_002664126.2 
worm
(Caenorhabditis elegans)
Secernentea mec-56
Protein MEC-5
31(a)
1 → many
X(15944009-15948951)


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
COL25A12  COL19A12  COL9A12  COL22A12  COL13A12  COL9A32  COL9A22  COL16A12  
COL23A12  
18/30 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    COL6A3
COL28A1    MATN4    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, 4UniProtKB, 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

10/4015 SNPs in COL21A1 are shown (see all 4015)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1814437911,2
Cuntested156044484(+) AAGTTA/C/TGGCAT 2 K E mis10--------
rs580699561,2
C--55839593(+) ACACA-/CAAGTGT 1 -- int11Minor allele frequency- CA:0.00NA 2
rs1865710181,2
--55921013(+) AGGGGC/TGATAG 1 -- ds50010--------
rs2012390571,2
C--55921048(+) GGGCC-/TTTACTG 1 -- ds50010--------
rs1908834891,2
--55921099(+) ACTAAA/GCATCA 1 -- ds50010--------
rs1444490471,2
C--55921141(+) AAATAA/GTAGAA 1 -- ds50010--------
rs1507818121,2
--55921175(+) CTGGG-/CCAACA 1 -- ds50010--------
rs575210201,2
F--55921260(+) ATTTCG/AGGTGA 1 -- ds50011Minor allele frequency- A:0.00CSA 1
rs1822982231,2
--55921269(+) GAACAC/TATTTT 1 -- ds50010--------
rs605302341,2
F--55921314(+) CCATTA/GAATAA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for COL21A1 (55921388 - 56171388 bp, first 250kb of COL21A1)

Structural Variations
     Database of Genomic Variants (DGV) 10/11 variations for COL21A1 (see all 11):    About this table     
Variant IDTypeSubtypePubMed ID
esv2732118CNV Deletion23290073
esv993486CNV Deletion20482838
esv2732119CNV Deletion23290073
esv1388199CNV Deletion17803354
esv2427713CNV Deletion19546169
nsv5313CNV Insertion18451855
nsv885911CNV Loss21882294
nsv526703CNV Loss19592680
nsv349404CNV Loss16902084
esv27231CNV Loss19812545

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 610002    OMIM disorders: --

2 diseases for COL21A1:    About MalaCards
pneumocystosis    prostatitis


COL21A1 for disorders           About GeneDecksing

Genetic Association Database (GAD): COL21A1
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 14):
(articles sorted by number of sources associating them with COL21A1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A new FACIT of the collagen family: COL21A1. (PubMed id 11566190)1, 2, 3, 9 Fitzgerald J. and Bateman J.F. (2001)
  2. 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)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. 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)
  6. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
  7. A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. (PubMed id 17903305)4 Murabito J.M....Hwang S.J. (2007)
  8. 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)
  9. 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)
  10. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 81578 HGNC: 17025 AceView: COL21A1 Ensembl:ENSG00000124749 euGenes: HUgn81578
ECgene: COL21A1 Kegg: 81578 H-InvDB: COL21A1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for COL21A1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for COL21A1 gene:
Search GeneIP for patents involving COL21A1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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