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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL13A1 Gene

protein-coding GIFtS: 52
GCID: GC10P071561

collagen, type XIII, alpha 1

Explore 3 diseases affiliated with
COL13A1 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 XIII, Alpha 1¹ ²
COLXIIIA1² ³
Collagen Alpha-1(XIII) Chain²

External Ids:	HGNC: 2190¹	Entrez Gene: 1305²	Ensembl: ENSG00000197467⁷	OMIM: 120350⁵	UniProtKB: Q5TAT6³

Export aliases for COL13A1 gene to outside databases

Previous GC identifers: GC10P070372 GC10P070648 GC10P071454 GC10P070906 GC10P071231 GC10P065553

(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 COL13A1:

This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known,

however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general

function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix,

collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The

transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens,

collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer.

A number of alternatively spliced transcript variants have been described, but the full length nature of some of them

has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CODA1_HUMAN, Q5TAT6

Function: Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May

participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of

bone and branching morphogenesis of lung. Binds heparin

Gene Wiki entry for COL13A1 (Collagen, type XIII, 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_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL13A1 gene promoter:
AhR POU2F2 (Oct-2.1) Oct-B1 oct-B3 oct-B2 Arnt POU2F2 POU2F2C POU2F1 POU2F1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL13A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL13A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL13A1

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

Entrez Gene cytogenetic band: 10q22 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q22

COL13A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL13A1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P071561: view genomic region (about GC identifiers)

Start:	71,561,644 bp from pter	End:	71,724,031 bp from pter
Size:	162,388 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: CODA1_HUMAN, Q5TAT6 (See protein sequence)

Recommended Name: Collagen alpha-1(XIII) chain

Size: 717 amino acids; 69950 Da

Subunit: Homotrimer; disulfide-linked. Nucleation of the type XIII collagen triple helix is likely to occur at the

N-terminal region with triple helix formation proceeding from the N- to the C-terminus. Interacts with FN1,

perlecan/HSPG2 and NID2

Subcellular location: Cell membrane; Single-pass type II membrane protein

Sequence caution: Sequence=AAA51685.1; Type=Erroneous initiation;

Secondary accessions: A6NFR5 B9EGD2 Q13992 Q13993 Q13994 Q13995 Q13996 Q5TAT4 Q5TAT5 Q7KZ33 Q7KZ49

Q99228 Q9NQ52

Alternative splicing: 10 isoforms: Q5TAT6-1 Q5TAT6-2 Q5TAT6-3 Q5TAT6-4 Q5TAT6-5 Q5TAT6-6 Q5TAT6-7 Q5TAT6-8

Q5TAT6-9 Q5TAT6-10 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL13A1: NX_Q5TAT6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5TAT6

COL13A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001123575.1 NP_542988.3 NP_542990.3 NP_542991.3 NP_542992.3 NP_542995.3

ENSEMBL proteins:

ENSP00000430089 ENSP00000381949 ENSP00000346553 ENSP00000350463 ENSP00000428057

ENSP00000430061 ENSP00000428342 ENSP00000430173 ENSP00000429157 ENSP00000381947

ENSP00000388774 ENSP00000381946 ENSP00000381943 ENSP00000381940 ENSP00000381938

ENSP00000381936 ENSP00000381941 ENSP00000348695 ENSP00000381944 ENSP00000381945

Reactome Protein details: Q5TAT6
Human Recombinant Protein Products:

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

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005600	collagen type XIII	TAS	2459707
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005886	plasma membrane	IEA	--
GO:0005911	cell-cell junction	IEA	--

COL13A1 for ontologies About GeneDecksing

COL13A1 Antibody Products:

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	Novus Biologicals COL13A1 Antibody
	Search for Antibodies for COL13A1 at Abcam
	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for COL13A1

Assay Products for COL13A1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for COL13A1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

COL13A1 for domains About GeneDecksing

1 InterPro domain/family:

IPR008160 Collagen

Graphical View of Domain Structure for InterPro Entry Q5TAT6

ProtoNet protein and cluster: Q5TAT6

2 Blocks protein families:

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

(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: CODA1_HUMAN, Q5TAT6

Function: Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May

participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of

bone and branching morphogenesis of lung. Binds heparin

Genatlas biochemistry entry for COL13A1:

collagen,type XIII,alpha 1,short chain

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 COL13A1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate COL13A1 (see all 11):
		hsa-miR-30c hsa-miR-3163 hsa-miR-1271 hsa-miR-30d hsa-miR-30a hsa-miR-96* hsa-miR-593* hsa-miR-30b

		SwitchGear 3'UTR luciferase reporter plasmid: COL13A1 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 COL13A1 (see all 7) OriGene shRNA RFP: COL13A1 OriGene siRNA: COL13A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL13A1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for COL13A1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		Search LifeMap BioReagents cell lines for COL13A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL13A1

Gene Ontology (GO): 3 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	NAS	--
GO:0005515	protein binding	IPI	11956183
GO:0008201	heparin binding	IDA	11956183

COL13A1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for COL13A1: Col13a1^tm3.1Pih Col13a1^tm1Pih
     8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Col13a1):

behavior/neurological	cellular	growth/size	homeostasis/metabolism	immune system
muscle	nervous system	other

COL13A1 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 - 5/9 super-pathways (see all 9) 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

Degradation of the extracellular matrix

Degradation of the extracellular matrix

1.00

Degradation of collagen

0.79

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for COL13A1

Articular Cartilage Extracellular Matrix

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL13A1 (see all 15)

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

5/7 Reactome Pathways for COL13A1 (see all 7)

	Collagen type XIII ectodomain shedding
	Secretion of transmembrane collagens
	Extracellular matrix organization
	Collagen biosynthesis and modifying enzymes
	Degradation of the extracellular matrix

COL13A1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL13A1

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

5/46 Interacting proteins for COL13A1 (ENSP00000348695⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COL10A1	ENSP00000243222⁴	STRING: ENSP00000243222
COL11A1	ENSP00000351163⁴	STRING: ENSP00000351163
COL12A1	ENSP00000325146⁴	STRING: ENSP00000325146
COL14A1	ENSP00000297848⁴	STRING: ENSP00000297848
COL15A1	ENSP00000364140⁴	STRING: ENSP00000364140

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001763	morphogenesis of a branching structure	ISS	--
GO:0001958	endochondral ossification	ISS	--
GO:0007160	cell-matrix adhesion	IPI	11956183
GO:0016337	cell-cell adhesion	IEP	10865988
GO:0030154	cell differentiation	IEA	--

COL13A1 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 COL13A1

2 HMDB Compounds for COL13A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Atorvastatin	Atorvastatin acid (see all 4)	134523-00-5	--
Simvastatin	(+)-Simvastatin (see all 28)	79902-63-9	--

Search CenterWatch for drugs/clinical trials and news about COL13A1 / CODA1

(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 COL13A1 gene (20 alternative transcripts):

NM_001130103.1 NM_080798.3 NM_080800.3 NM_080801.3 NM_080802.3 NM_080805.3 NM_005203.3 NM_080799.2

NM_080803.2 NM_080804.2 NM_080806.2 NM_080807.2 NM_080808.2 NM_080809.2 NM_080810.2 NM_080811.2

NM_080812.2 NM_080813.2 NM_080814.2 NM_080815.2

Unigene Cluster for COL13A1:

Collagen, type XIII, alpha 1

Hs.695934 [show with all ESTs]

Unigene Representative Sequence: NM_001130103

18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000479733 ENST00000398978 ENST00000354547 ENST00000357811 ENST00000520267

ENST00000517713 ENST00000522165 ENST00000520133 ENST00000468907 ENST00000484990

ENST00000461649 ENST00000398975 ENST00000456019 ENST00000518052 ENST00000478219

ENST00000398974 ENST00000398971 ENST00000398968(uc021psc.1 uc021psh.1)

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 COL13A1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate COL13A1 (see all 11):
		hsa-miR-30c hsa-miR-3163 hsa-miR-1271 hsa-miR-30d hsa-miR-30a hsa-miR-96* hsa-miR-593* hsa-miR-30b

		SwitchGear 3'UTR luciferase reporter plasmid: COL13A1 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL13A1 (see all 7) OriGene shRNA RFP: COL13A1 OriGene siRNA: COL13A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL13A1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL13A1 (see all 10) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL13A1 (see all 20) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): COL13A1 (NM_001130103)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL13A1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL13A1

Additional cDNA sequence:

AJ293624.1 BC136385.1 BC139913.1 M15524.1 M33653.1 M59217.1

15 DOTS entries:

DT.92419152 DT.92419154 DT.101968808 DT.100025599 DT.100025594 DT.453365 DT.91854784 DT.100025597

DT.100025601 DT.101969412 DT.91707313 DT.97837183 DT.100811044 DT.121295186 DT.91900699

24/65 AceView cDNA sequences (see all 65):

BU616183 NM_080811 NM_080809 AI741175 NM_080804 NM_080798 NM_080807 NM_080814

NM_080799 NM_080802 AA470704 NM_080800 AA235687 NM_080806 NM_080801 BM744248

AA243649 NM_080813 NM_080810 NM_080815 NM_080803 NM_005203 NM_080805 AW102575

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

COL13A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

COL13A1 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Bone

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (A scalable, suspensi...)

See COL13A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL13A1

SOURCE GeneReport for Unigene cluster: Hs.695934

UniProtKB/Swiss-Prot: CODA1_HUMAN, Q5TAT6

Tissue specificity: Widely expressed in both fetal and adult ocular tissues (at protein level). In the eye, expression

is accentuated in the ciliary muscle, optic nerve and the neural retina. In early placenta, localized to fibroblastoid

stromal cells of the placental villi, to endothelial cells of developing capillaries and to cells of the

cytotrophoblastic columns. Also detected in large decidual cells of the decidual membrane and to stromal cells of the

gestational endometrium, but not in the epithelial cells in the endometrial glands

SABiosciences Custom PCR Arrays for COL13A1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL13A1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL13A1

(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 COL13A1 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL13A1⁶	Uncharacterized protein	76(a)	1 ↔ 1	6(12098767-12151818)
lizard (Anolis carolinensis)	Reptilia	COL13A1⁶	--	73(a)	1 ↔ 1	3(48849705-48958494)
zebrafish (Danio rerio)	Actinopterygii	CABZ01065684.1⁶	--	45(a)	1 ↔ 1	13(7362553-7453879)
fruit fly (Drosophila melanogaster)	Insecta	CG42342¹	CG42342	51.39(n) 48.93(a)		7354466 NM_001202305.1 NP_001189234.1
worm (Caenorhabditis elegans)	Secernentea	col-99¹	Protein COL-99	51.61(n) 50(a)		185112 NM_067468.3 NP_499869.2

ENSEMBL Gene Tree for COL13A1 (if available)
TreeFam Gene Tree for COL13A1 (if available)

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

Paralogs for COL13A1 gene

COL25A1² COL23A1²

15 SIMAP similar genes for COL13A1 using alignment to 15 protein entries: CODA1_HUMAN (see all proteins):

MSR1 C1QB COL6A5 GLDN COL4A2 COL6A6

COLEC11 COL6A2 SCARA5 COL7A1 C1QTNF9 C1QTNF9B

FCN2 COL4A5 COL21A1

COL13A1 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 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190328079^1,2		--	71559679(+)	`GCCTCA/CGAGAT`	6	--	us2k¹		0	--	--	--	--
rs2642608^1,2	C,F,A,H,	--	71559723(-)	`CCTGGG/ATGTAA`	6	--	us2k¹		11		NS EA NA WA	786
rs2247427^1,2	C,F,A,H,	--	71559748(-)	`CAGGGT/GGACTC`	6	--	us2k¹		15		NS EA NA WA CSA	781
rs117223600^1,2	F,	--	71559778(+)	`TGCTGG/AGGCCA`	6	--	us2k¹		1		NA	120
rs145240059^1,2		--	71559908(+)	`AAAGAA/TCAGTT`	6	--	us2k¹		0	--	--	--	--
rs2704506^1,2	C,F,A,H,	--	71560033(-)	`TTTCTG/ACACTG`	6	--	us2k¹		19		NS EA NA WA	2156
rs77793174^1,2	C,	--	71560141(+)	`GAAAAC/GAGAGT`	6	--	us2k¹		2		NA	122
rs75151358^1,2	C,F,	--	71560259(+)	`CATAGT/CGGCTG`	6	--	us2k¹		3		WA NA EA	358
rs182553991^1,2		--	71560269(+)	`GACTGG/TCCCAG`	6	--	us2k¹		0	--	--	--	--
rs140998319^1,2		--	71560298(+)	`TTACAG/TATGAT`	6	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COL13A1 (71561644 - 71724031 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for COL13A1
4 CNVs: 29863 48618 6879 29864
1 Indel: 100976

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(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.)
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COL13A1 for disorders           About GeneDecksing

OMIM gene information: 120350    OMIM disorders: --

3 diseases for COL13A1:    About MalaCards

fatty liver disease liver disease alzheimer's disease

Human Genome Epidemiology (HuGE) Navigator: COL13A1 (4 documents)

Export disorders for COL13A1 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)
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PubMed articles for COL13A1 gene, integrated from 9 sources (see all 25):
(articles sorted by number of sources associating them with COL13A1)

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The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin. (PubMed id 11956183)^{1, 2} Tu H....Pihlajaniemi T. (2002)
Type XIII collagen is widely expressed in the adult and developing human eye and accentuated in the ciliary muscle, the optic nerve and the neural retina. (PubMed id 10865988)^{1, 2} Sandberg-Lall M.... Pihlajaniemi T. (2000)
Location and alternative splicing of type XIII collagen RNA in the early human placenta. (PubMed id 8246446)^{1, 2} Juvonen M.... Autio-Harmainen H. (1993)
Characterization of the spectrum of alternative splicing of alpha 1 (XIII) collagen transcripts in HT-1080 cells and calvarial tissue resulted in identification of two previously unidentified alternatively spliced sequences, one previously unidentified exon, and nine new mRNA variants. (PubMed id 1447209)^{1, 2} Juvonen M. and Pihlajaniemi T. (1992)
Patterns of expression of the six alternatively spliced exons affecting the structures of the COL1 and NC2 domains of the alpha 1(XIII) collagen chain in human tissues and cell lines. (PubMed id 1447210)^{1, 2} Juvonen M.... Pihlajaniemi T. (1992)
The alpha 1 chain of type XIII collagen consists of three collagenous and four noncollagenous domains, and its primary transcript undergoes complex alternative splicing. (PubMed id 1698771)^{1, 2} Pihlajaniemi T. and Tamminen M. (1990)
Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon. (PubMed id 2459707)^{1, 2} Tikka L.... Tryggvason K. (1988)
Partial characterization of a low molecular weight human collagen that undergoes alternative splicing. (PubMed id 3547403)^{1, 2} Pihlajaniemi T.... Prockop D.J. (1987)
Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)¹ Oguri M....Yamada Y. (2010)
Genome-wide association study identifies variants ass ociated with histologic features of nonalcoholic Fatty liver disease. (PubMed id 20708005)¹ Chalasani N....Rotter J.I. (2010)

(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)
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Entrez Gene: 1305	HGNC: 2190	AceView: COL13A1	Ensembl:ENSG00000197467	euGenes: HUgn1305
ECgene: COL13A1	H-InvDB: COL13A1

(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)
About This Section

Name	Description
PharmGKB entry for COL13A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COL13A1 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 COL13A1 gene:
Search GeneIP for patents involving COL13A1

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

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COL13A1 Gene

collagen, type XIII, alpha 1

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COL13A1 Gene

collagen, type XIII, alpha 1

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