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This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fib... See more...
Aliases for COL16A1 Gene
Aliases for COL16A1 Gene
External Ids for COL16A1 Gene
- HGNC: 2193
- Entrez Gene: 1307
- Ensembl: ENSG00000084636
- OMIM: 120326
- UniProtKB: Q07092
Previous GeneCards Identifiers for COL16A1 Gene
- GC01M031925
- GC01M031102
- GC01M031544
- GC01M031620
- GC01M031786
- GC01M031890
- GC01M032117
- GC01M030235
Summaries for COL16A1 Gene
-
This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL16A1 Gene
COL16A1 (Collagen Type XVI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL16A1 include Potter's Syndrome. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot Summary for COL16A1 Gene
-
Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology.
Additional gene information for COL16A1 Gene
- HGNC(2193)
- Entrez Gene(1307)
- Ensembl(ENSG00000084636)
- OMIM(120326)
- UniProtKB(Q07092)
- Open Targets Platform(ENSG00000084636)
- Search for COL16A1 at DataMed
- Search for COL16A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL16A1 Gene
Genomics for COL16A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for COL16A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around COL16A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL16A1
- Top Transcription factor binding sites by QIAGEN in the COL16A1 gene promoter:
-
- GATA-3
- HOXA5
- IRF-1
- ISGF-3
- MIF-1
- Nkx2-5
- POU2F1
- POU2F1a
- PPAR-alpha
- PPAR-gamma1
Genomic Locations for COL16A1 Gene
Genomic Locations for COL16A1 Gene
- chr1:31,652,263-31,704,319
- (GRCh38/hg38)
- Size:
- 52,057 bases
- Orientation:
- Minus strand
- chr1:32,117,848-32,169,920
- (GRCh37/hg19)
- Size:
- 52,073 bases
- Orientation:
- Minus strand
Genomic View for COL16A1 Gene
Genes around COL16A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p35.2 by HGNC
- 1p35.2 by Entrez Gene
- 1p35.2 by Ensembl
COL16A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL16A1 Gene
Proteins for COL16A1 Gene
-
Protein details for COL16A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q07092-COGA1_HUMAN
- Recommended name:
- Collagen alpha-1(XVI) chain
- Protein Accession:
- Q07092
- Q16593
- Q59F89
- Q71RG9
Protein attributes for COL16A1 Gene
- Size:
- 1604 amino acids
- Molecular mass:
- 157751 Da
- Quaternary structure:
-
- Homotrimer. Interacts with FBN1, fibronectin and integrins ITGA1/ITGB1 and ITGA2/ITGB1. Integrin ITGA1/ITGB1 binds to a unique site within COL16A1 located close to its C-terminal end between collagenous domains COL1-COL3.
Protein Expression for COL16A1 Gene
Post-translational modifications for COL16A1 Gene
Other Protein References for COL16A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Collagen XVI a1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for COL16A1
- Invitrogen Antibodies for COL16A1 (AFLGC-COL16A1)
-
Biorbyt antibodies for COL16A1
-
Boster Bio Antibodies for COL16A1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL16A1
- Origene Custom Protein Services for COL16A1
- Novus Biologicals proteins for COL16A1
- antibodies-online: Show 3 available COL16A1 Proteins ranked by validation data
- Compare Top COL16A1 Proteins
-
Quality Products:
-
Abcam proteins for COL16A1
No data available for DME Specific Peptides for COL16A1 Gene
Domains & Families for COL16A1 Gene
Gene Families for COL16A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for COL16A1 Gene
- InterPro:
- Blocks:
-
- Collagen triple helix repeat
- Collagen helix repeat
- Thrombospondin, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for COL16A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Collagen alpha-1(XVI) chain (COGA1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q07092UniProtKB/Swiss-Prot:
COGA1_HUMAN :- This sequence defines eighteen different domains, nine triple-helical domains (COL9 to COL1) and ten non-triple-helical domains (NC10 to NC1). The numerous interruptions in the triple helix may make this molecule either elastic or flexible.
- Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
- Domain:
-
- This sequence defines eighteen different domains, nine triple-helical domains (COL9 to COL1) and ten non-triple-helical domains (NC10 to NC1). The numerous interruptions in the triple helix may make this molecule either elastic or flexible.
- Family:
-
- Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Function for COL16A1 Gene
Molecular function for COL16A1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology.
- GENATLAS Biochemistry:
- collagen,type XVI,alpha 1,with features of fibril associated collagen with interrupted helices (?FACIT variant)
Phenotypes From GWAS Catalog for COL16A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005178 | integrin binding | IDA | 16754661 |
| GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 15165854 |
| GO:0008201 | heparin binding | IBA | -- |
| GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 25037231 |
Phenotypes for COL16A1 Gene
- MGI mutant phenotypes for COL16A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for COL16A1:
Animal Model Products
-
Taconic Biosciences Mouse Models for COL16A1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL16A1 - Select products 50% OFF >
- * COL16A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL16A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL16A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL16A1
miRNA for COL16A1 Gene
- miRTarBase miRNAs that target COL16A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL16A1
- Browse OriGene Inhibitory RNA Products For COL16A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL16A1
Clone Products
- Applied Biological Materials (abm): Clones for COL16A1 - Select products 50% OFF >
- * COL16A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COL16A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL16A1
Cell Line Products
-
Horizon Cell Lines for COL16A1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COL16A1 Gene
Localization for COL16A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL16A1 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| cytosol | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| endosome | 1 |
- Cytosol (2)
- Golgi apparatus (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005588 | collagen type V trimer | IBA | 21873635 |
| GO:0005597 | collagen type XVI trimer | TAS | 1284248 |
| GO:0005615 | extracellular space | IBA | 21873635 |
Pathways & Interactions for COL16A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | 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
|
| 2 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
| 3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 4 | Degradation of the extracellular matrix | ||
| 5 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
Pathways by source for COL16A1 Gene
7 Reactome pathways for COL16A1 Gene
15 Qiagen pathways for COL16A1 Gene
- Blood Coagulation Cascade
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
Interacting Proteins for COL16A1 Gene
Selected Interacting proteins:
Q07092-COGA1_HUMAN
ENSP00000362776
for COL16A1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for COL16A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001763 | morphogenesis of a branching structure | IBA | -- |
| GO:0007155 | cell adhesion | IEA,IDA | 16754661 |
| GO:0007160 | cell-matrix adhesion | IBA | -- |
| GO:0007229 | integrin-mediated signaling pathway | TAS | 16754661 |
| GO:0007565 | female pregnancy | TAS | 1284248 |
No data available for SIGNOR curated interactions for COL16A1 Gene
Transcripts for COL16A1 Gene
mRNA/cDNA for COL16A1 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000373672 5418 nts (view in UCSC)
- ENST00000488128 2854 nts (view in UCSC)
- ENST00000488897 2423 nts (view in UCSC)
- ENST00000461217 852 nts (view in UCSC)
- ENST00000440437 672 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL16A1 - Select products 50% OFF >
- * COL16A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL16A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL16A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL16A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL16A1
- Browse OriGene Inhibitory RNA Products For COL16A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL16A1
Clone Products
- Applied Biological Materials (abm): Clones for COL16A1 - Select products 50% OFF >
- * COL16A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COL16A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL16A1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||
| SP10: |
Relevant External Links for COL16A1 Gene
- GeneLoc Exon Structure for
- COL16A1
Expression for COL16A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Kidney (Urinary System)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Testis (Reproductive System)
-
Ovary (Reproductive System)
This gene is overexpressed in Kidney (12.5), Cerebrospinal fluid (9.0), and Bone marrow mesenchymal stem cell (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COL16A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL16A1
SOURCE GeneReport for Unigene cluster for COL16A1 Gene:
Hs.368921mRNA Expression by UniProt/SwissProt for COL16A1 Gene:
Q07092-COGA1_HUMAN
Tissue specificity:
In papillary dermis, is a component of specialized fibrillin-1-containing microfibrils, whereas in territorial cartilage matrix, it is localized to a discrete population of thin, weakly banded collagen fibrils in association with other collagens (at protein level). In the placenta, where it is found in the amnion, a membranous tissue lining the amniotic cavity. Within the amnion, it is found in an acellular, relatively dense layer of a complex network of reticular fibers. Also located to a fibroblast layer beneath this dense layer. Exists in tissues in association with other types of collagen.
Evidence on tissue expression from TISSUES for COL16A1 Gene
- Spleen(4.2)
- Skin(2.7)
- Nervous system(2.5)
- Muscle(2.3)
- Heart(2)
Primer Products
-
OriGene qPCR primer pairs for COL16A1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL16A1 Gene
Orthologs for COL16A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | COL16A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | COL16A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | COL16A1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Col16a1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Col16a1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | COL16A1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | COL16A1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | COL16A1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | COL16A1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497018 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | col16a1 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG42342 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | col-99 31 |
|
OneToMany |
- Species where no ortholog for COL16A1 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)
- 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 Squirt (Ciona savignyi)
- 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)
Evolution for COL16A1 Gene
- ENSEMBL:
- Gene Tree for COL16A1 (if available)
- TreeFam:
- Gene Tree for COL16A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COL16A1: view image
Paralogs for COL16A1 Gene
Paralogs for COL16A1 Gene
- COL5A1 5
- COL11A1 5
- COL11A2 5
- COL4A5 5
- COL5A3 5
- COL2A1 5
- COL22A1 5
- COL1A1 5
- COL4A1 5
- COL7A1 5
- COL3A1 5
- COL4A6 5
- COL1A2 5
- COL4A4 5
- COL4A3 5
- COL4A2 5
- COL5A2 5
- COL27A1 5
- COL24A1 5
- COL17A1 5
- COL18A1 5
- COL9A1 5
- COL15A1 5
- COL28A1 5
- COL9A3 5
- COL9A2 5
- COL21A1 5
- COL20A1 5
- COL6A1 5
- COL13A1 5
- COL25A1 5
- COL23A1 5
- COL6A2 5
- COLQ 5
- EMID1 5
- COL26A1 5
- EDA 5
(6) SIMAP similar genes for COL16A1 Gene using alignment to 6 proteins:
- COGA1_HUMAN
- A6NCT7_HUMAN
- A6NDR9_HUMAN
- H7BY97_HUMAN
- H7BZL8_HUMAN
- H7C3F0_HUMAN
Variants for COL16A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL16A1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 715549 | Benign: not provided | 31,679,814(-) | G/T | MISSENSE_VARIANT | |
| 771840 | Likely Benign: not provided | 31,692,475(-) | T/C | MISSENSE_VARIANT | |
| 775528 | Benign: not provided | 31,691,647(-) | G/C | INTRON_VARIANT | |
| 782078 | Benign: not provided | 31,694,180(-) | C/T | INTRON_VARIANT | |
| rs2228552 | - | p.Thr62Lys |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758930 | CNV | loss | 17122850 |
| nsv1000976 | CNV | loss | 25217958 |
| nsv461028 | CNV | loss | 19166990 |
| nsv470708 | CNV | loss | 18288195 |
| nsv472148 | CNV | novel sequence insertion | 20440878 |
| nsv528364 | CNV | loss | 19592680 |
| nsv545951 | CNV | gain | 21841781 |
| nsv545952 | CNV | gain | 21841781 |
| nsv545953 | CNV | loss | 21841781 |
| nsv818123 | CNV | loss | 17921354 |
| nsv950385 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.42;
90.93% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COL16A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL16A1 Gene
Disorders for COL16A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| potter's syndrome |
|
|
Search COL16A1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for COL16A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for COL16A1 Gene
Publications for COL16A1 Gene
- Cloning and chromosomal location of human alpha 1(XVI) collagen. (PMID: 1631157) Pan TC … Chu ML (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
- Collagen XVI harbors an integrin alpha1 beta1 recognition site in its C-terminal domains. (PMID: 16754661) Eble JA … Grässel S (The Journal of biological chemistry 2006) 3 4
- Molecular structure and interaction of recombinant human type XVI collagen. (PMID: 15165854) Kassner A … Grässel S (Journal of molecular biology 2004) 3 4
ExternalLinks
Products for COL16A1 Gene
- Custom Antibody ServicesOriGene Antibodies for COL16A1
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- Taconic Biosciences Mouse Models for COL16A1
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- antibodies-online: Show 4 available COL16A1 Antibodies ranked by validation data
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- antibodies-online: Show 3 available COL16A1 Proteins ranked by validation data
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- Quality Products:
- Horizon Cell Lines for COL16A1
- Browse GeneCopoeia Cell Lines
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- Boster Bio Antibodies for COL16A1
- Browse Boster Bio ELISA Kits
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Sources for COL16A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
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- (43) HuGE
- (44) Atlas
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- (49) Leiden
- (50) miRBase
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- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
- (105) NIH Rare Diseases
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- (110) Genetics Home Reference
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- (115) NCBI Bookshelf
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- (124) Horizon
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- (135) abm
- (136) Human Protein Atlas
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- (138) Monarch Initiative
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