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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL7A1 Gene

protein-coding GIFtS: 62
GCID: GC03M048576

collagen, type VII, alpha 1

(Previous names: epidermolysis bullosa, dystrophic, dominant and recessive...)
(Previous symbols: EBDCT, EBD1, EBR1)

Explore 38 diseases affiliated with
COL7A1 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 VII, Alpha 1¹ ²		LC Collagen² ³
EBD1¹ ²		Epidermolysis Bullosa, Dystrophic, Dominant And Recessive¹
EBDCT¹ ²		Collagen Alpha-1(VII) Chain²
EBR1¹ ²		Collagen VII, Alpha-1 Polypeptide²
Long-Chain Collagen² ³

External Ids:	HGNC: 2214¹	Entrez Gene: 1294²	Ensembl: ENSG00000114270⁷	OMIM: 120120⁵	UniProtKB: Q02388³

Export aliases for COL7A1 gene to outside databases

Previous GC identifers: GC03M048391 GC03M047884 GC03M048562

(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 COL7A1:

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha

collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an

anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with

all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease

can result from an autoimmune response made to type VII collagen. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388

Function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to

epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such

as type IV collagen

Gene Wiki entry for COL7A1 (Collagen, type VII, 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_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL7A1 gene promoter:
HEN1 GR Pax-5 AP-1 ATF-2 GR-alpha c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL7A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL7A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL7A1

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

Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.1

COL7A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL7A1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M048576: view genomic region (about GC identifiers)

Start:	48,601,506 bp from pter	End:	48,632,700 bp from pter
Size:	31,195 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: CO7A1_HUMAN, Q02388 (See protein sequence)

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

Size: 2944 amino acids; 295220 Da

Subunit: Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent

secretion

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane

Sequence caution: Sequence=BAA02853.1; Type=Frameshift; Positions=275, 282, 476, 494, 523, 541, 543;

Secondary accessions: Q14054 Q16507

Alternative splicing: 2 isoforms: Q02388-1 Q02388-2

Explore the universe of human proteins at neXtProt for COL7A1: NX_Q02388

Post-translational modifications:

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q02388

COL7A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000085.1

ENSEMBL proteins:

ENSP00000332371 ENSP00000391608 ENSP00000412569

Reactome Protein details: Q02388
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 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:0005590	collagen type VII	TAS	9375848
GO:0005604	basement membrane	IEA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0031012	colocalizes with extracellular matrix	ISS	--

COL7A1 for ontologies About GeneDecksing

COL7A1 Antibody Products:

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	ThermoFisher Antibodies for COL7A1

Assay Products for COL7A1:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for COL7A1
	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

COL7A1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR003961 Fibronectin_type3

IPR002223 Prot_inh_Kunz-m

IPR013783 Ig-like_fold

IPR020901 Prtase_inh_Kunz-CS

IPR008160 Collagen

Graphical View of Domain Structure for InterPro Entry Q02388

ProtoNet protein and cluster: Q02388

4 Blocks protein families:

IPB002035 Von Willebrand factor type A domain signature

IPB002223 Pancreatic trypsin inhibitor (Kunitz)

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388

Similarity: Contains 1 BPTI/Kunitz inhibitor domain

Similarity: Contains 9 fibronectin type-III domains

Similarity: Contains 2 VWFA domains

(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: CO7A1_HUMAN, Q02388

Function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to

epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such

as type IV collagen

Genatlas biochemistry entry for COL7A1:

collagen type VII,alpha 1,anchoring fibril

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		hsa-miR-365 hsa-miR-3065-3p hsa-miR-767-5p hsa-miR-29a hsa-miR-29c hsa-miR-646 hsa-miR-1251 hsa-miR-34a*

		SwitchGear 3'UTR luciferase reporter plasmid: COL7A1 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 COL7A1 (see all 7) OriGene shRNA RFP: COL7A1 OriGene siRNA: COL7A1
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Gene Editing
Products:

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		Search LifeMap BioReagents cell lines for COL7A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL7A1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	--
GO:0005515	protein binding	IPI	19269366

COL7A1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for COL7A1:

Decreased Salmonella enterica

Animal Models:
Mouse knock-out Col7a1^tm1Uit for COL7A1
8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Col7a1):

craniofacial	digestive/alimentary	growth/size	integument	limbs/digits/tail
mortality/aging	normal	skeleton

COL7A1 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 - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

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

Collagen formation

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

Rho Family GTPases

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

Gelatin degradation by MMP19

	Gelatin degradation by MMP19	1.00			Anchoring fibril formation	0.39
	Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 13	0.64

Degradation of the extracellular matrix

Degradation of the extracellular matrix

1.00

Degradation of collagen

0.79

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL7A1 (see all 15)

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

5/11 Reactome Pathways for COL7A1 (see all 11)

	Secretion of collagens
	Assembly of collagen fibrils and other multimeric structures
	Collagen formation
	Degradation of collagen
	Gelatin degradation by MMP19

COL7A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COL7A1

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

5/58 Interacting proteins for COL7A1 (Q02388^{1, 2, 3} ENSP00000332371⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 58)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MIA3	Q5JRA6¹^,²^,³, ENSP00000340900⁴	EBI-724237,EBI-2803073 MINT-7217948 MINT-7217938 MINT-7217905 MINT-7217969 MINT-7217990 MINT-7217980 MINT-7217958 I2D: score=2 STRING: ENSP00000340900
ZC3H7A	Q8IWR0²^,³, ENSP00000347999⁴	MINT-64033 I2D: score=4 STRING: ENSP00000347999
FBXL2	Q9UKC9²^,³, ENSP00000417601⁴	MINT-64035 I2D: score=2 STRING: ENSP00000417601
HSPA8	P11142²^,³	MINT-64032 I2D: score=4
SHKBP1	Q8TBC3²^,³, ENSP00000291842⁴	MINT-64034 I2D: score=4 STRING: ENSP00000291842

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0008544	epidermis development	TAS	8170945
GO:0030198	extracellular matrix organization	TAS	--

COL7A1 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

COL7A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL7A1
5 Novoseek chemical compound relationships for COL7A1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arginine	32.7	7	7861014 (1), 9182828 (1), 9412818 (1), 8037207 (1) (see all 7)
valine	12.5	1	15115517 (1)
serine	0	2	16119884 (1), 8170945 (1)
cysteine	0	2	15239838 (1)
chloramphenicol	0	2	9582342 (1), 9092567 (1)

Search CenterWatch for drugs/clinical trials and news about COL7A1 / CO7A1

(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 COL7A1 gene:

NM_000094.3

Unigene Cluster for COL7A1:

Collagen, type VII, alpha 1

Hs.476218 [show with all ESTs]

Unigene Representative Sequence: L02870

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

ENST00000470076 ENST00000465238 ENST00000487017 ENST00000328333(uc003ctz.2)

ENST00000466591 ENST00000474432 ENST00000459756 ENST00000467985 ENST00000422991

ENST00000462475 ENST00000454817

miRNA Products:		OriGene 3'-UTR Clone: COL7A1 Browse OriGene MicroRNA Expression Plasmids
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		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate COL7A1 (see all 9):
		hsa-miR-365 hsa-miR-3065-3p hsa-miR-767-5p hsa-miR-29a hsa-miR-29c hsa-miR-646 hsa-miR-1251 hsa-miR-34a*

		SwitchGear 3'UTR luciferase reporter plasmid: COL7A1 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 COL7A1

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Additional cDNA sequence:

L02870.1 L06862.1 M65158.1 M96984.1 S51236.1

7 DOTS entries:

DT.413418 DT.444805 DT.120868605 DT.98084062 DT.100792890 DT.100792891 DT.95163505

24/154 AceView cDNA sequences (see all 154):

BM981593 AL050170 BM782886 AA779900 BU732256 AA324420 AA609061 NM_134426

BU854979 BU848723 AW206043 BQ054224 BG171652 BQ681565 AF416721 BU542954

BC017697 BU543732 BM824090 NM_022911 BM846627 AA057717 BE348329 BM668143

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for COL7A1 (see all 9) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49	^	50a	·	50b	^	51	^
SP1:																																															-
SP2:
SP3:
SP4:
SP5:

ExUns:	52	^	53	^	54	^	55a	·	55b	^	56a	·	56b	^	57a	·	57b	^	58	^	59	^	60	^	61a	·	61b	^	62a	·	62b	^	63a	·	63b	·	63c	·	63d
SP1:																									-				-				-
SP2:
SP3:
SP4:	-		-		-		-		-		-														-
SP5:															-										-				-

ECgene alternative splicing isoforms for COL7A1

(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

COL7A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCTGATTC

About this image

COL7A1 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: 7 LifeMap Cells

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See COL7A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL7A1

SOURCE GeneReport for Unigene cluster: Hs.476218

SABiosciences Expression via Pathway-Focused PCR Array including COL7A1:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL7A1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL7A1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL7A1

(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 COL7A1 gene from 3/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC427584¹	collagen alpha-1(VII) chain-like	59.22(n) 55.88(a)		427584 XM_425157.3 XP_425157.3
lizard (Anolis carolinensis)	Reptilia	COL7A1⁶	--	57(a)	1 ↔ 1	2(164499230-164641513)
zebrafish (Danio rerio)	Actinopterygii	col7a1¹	collagen, type VII, alpha 1	53.25(n) 50.68(a)		100332562 XM_002662505.2 XP_002662551.2

ENSEMBL Gene Tree for COL7A1 (if available)
TreeFam Gene Tree for COL7A1 (if available)

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

Paralogs for COL7A1 gene

COL4A6² COL19A1² COL11A2² COL4A5² COL24A1² COL4A4² COL5A3² COL1A1²

COL16A1² COL4A2² COL5A2² COL5A1² COL4A3² COL22A1² COL1A2² COL27A1²

COL2A1² COL3A1² COL4A1² COL11A1²

18/24 SIMAP similar genes for COL7A1 using alignment to 4 protein entries: CO7A1_HUMAN (see all proteins) (see all similar genes):

COL1A1 COL20A1 COL4A4 COL5A2 COL6A2 MARCO

COL3A1 COL6A1 COL11A2 DKFZp434L081 FCN2 SFTPD

COL9A2 COL16A1 COL21A1 COL8A2 COLEC11 MSR1

COL7A1 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)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912856^1,2	C	pathogenic	83846101(-)	`CCCCAA/GGGTGA`	2	K R	mis¹		0	--	--	--	--
rs121912830^1,2	C	pathogenic	83847026(-)	`CTCTAA/C/TGCCAA`	3	* Y	stg¹ syn¹		1		NA	4548
rs121912833^1,2	C	pathogenic	83854897(-)	`CAAAGC/GGGGAG`	2	R G	mis¹		0	--	--	--	--
rs121912835^1,2	C	pathogenic	83856945(-)	`CAAGGA/GTCCTG`	2	D G	mis¹		0	--	--	--	--
rs121912840^1,2	C	pathogenic	83858078(-)	`TTCAGC/GGTCCC`	2	R G	mis¹		0	--	--	--	--
rs121912847^1,2	C	pathogenic	83858290(-)	`GCCCCC/TGAGGA`	2	R *	stg¹		0	--	--	--	--
rs121912845^1,2	C	pathogenic	83859260(-)	`GGAGCC/TGGTGA`	2	P L	mis¹		0	--	--	--	--
rs121912841^1,2	C	pathogenic	83861064(-)	`TCCGTA/C/GGAGAA`	3	R G	mis¹		0	--	--	--	--
rs121912832^1,2	C	pathogenic	83864049(-)	`AACGCA/GGGCTG`	2	R G	mis¹		0	--	--	--	--
rs121912842^1,2	C	pathogenic	83864059(-)	`GAAGGA/GCGACC`	2	D G	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COL7A1 (48601506 - 48632700 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for COL7A1
1 CNV: 9448
Human Gene Mutation Database (HGMD): COL7A1

Locus Specific Mutation Databases (LSDB): COL7A1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL7A1

DNA2.0 Custom Variant and Variant Library Synthesis for COL7A1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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COL7A1 for disorders           About GeneDecksing

OMIM gene information: 120120
OMIM disorders: 131750  226600  131850  132000  131705  604129  607523
UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388

Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from

autoantibodies to type VII collagen

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750].

DDEB defines a group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs

below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with

different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized

scarring, and less frequent extracutaneous manifestations

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600].

RDEB defines a group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs

below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with

different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized

scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and

epidermolysis bullosa localisata

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]; also

known as albopapuloid dominant dystrophic epidermolysis bullosa. P-DEB is a severe, dominantly inherited form of

dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia

formation and red atrophic scarring after recurrent blisters

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB)

[MIM:226600]. HS-DEB is the most severe recessive form and manifests with mutilating scarring, joint contractures,

corneal erosions, esophagus structures, and propensity to formation of cutaneous squamous cell carcinomas leading to

premature demise of the affected individuals

Defects in COL7A1 are the cause of transient bullous dermolysis of the newborn (TBDN) [MIM:131705]. TBDN is a

neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal

anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals

spontaneously or strongly improves within the first months and years of life

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850].

PR-DEB is characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly

affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail

dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows

considerable interindividual variability Inheritance is autosomal dominant

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Bart type (B-DEB) [MIM:132000]. B-DEB is

an autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin,

skin fragility and deformity of nails

Defects in COL7A1 are the cause of epidermolysis bullosa pruriginosa (EBP) [MIM:604129]. EBP is a distinct

clinical subtype of DEB. It is characterized by skin fragility, blistering, scar formation, intense pruritus and

excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade

of life. Inheritance can be autosomal dominant or recessive

Defects in COL7A1 are the cause of nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523]. A nail

disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist

of the nail plate being buried in the nail bed with a deformed and narrow free edge

Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC)

[MIM:131750]. A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum.

Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement,

as seen in dystrophic epidermolysis bullosa

20/38 diseases for COL7A1 (see all 38): About MalaCards

epidermolysis bullosa epidermolysis bullosa dystrophica epidermolysis bullosa dystrophica, ar epidermolysis bullosa dystrophica, ad

ebd, localisata variant epidermolysis bullosa, pretibial dominant dystrophic epidermolysis bullosa ebd, bart type

epidermolysis bullosa pruriginosa toenail dystrophy, isolated ebd toenail dystrophy

recessive dystrophic epidermolysis bullosa transient bullous dermolysis of the newborn epidermolysis bullosa inversa ebd inversa

epidermolysis bullosa acquisita epidermolysis bullosa simplex peeling skin syndrome kindler syndrome

3 diseases from the University of Copenhagen DISEASES database for COL7A1:

Epidermolysis bullosa Bullous pemphigoid Cicatricial pemphigoid

10/15 Novoseek disease relationships for COL7A1 gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa dystrophic	99	173	9042157 (4), 7861014 (3), 9804332 (3), 8757758 (3) (see all 99)
epidermolysis bullosa pruriginosa	96.4	9	10383749 (2), 11218887 (1), 15115517 (1), 18067480 (1) (see all 7)
epidermolysis bullosa	91.8	13	8325648 (1), 7706758 (1), 18955559 (1), 10523500 (1) (see all 11)
ddeb dominant dystrophic epidermolysis bullosa	91.4	4	9718359 (1), 19486058 (1), 15113589 (1), 19726672 (1)
epidermolysis bullosa, pretibial	87.6	1	8541842 (1)
nail dystrophy	78.9	4	11781296 (1), 15113589 (1), 16189623 (1), 11260188 (1)
skin diseases	70.7	13	10408773 (1), 10504458 (1), 10206718 (1), 16470588 (1) (see all 13)
kindler syndrome	62.8	1	11862187 (1)
molecular pathology	57.6	6	19197535 (1), 10383749 (1), 9242516 (1), 17434045 (1) (see all 5)
epidermolysis bullosa junctional	46.5	2	10469327 (2)

GeneTests: COL7A1

Dystrophic Epidermolysis Bullosa

Genetic Association Database (GAD): COL7A1
Human Genome Epidemiology (HuGE) Navigator: COL7A1 (7 documents)

Export disorders for COL7A1 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 COL7A1 gene, integrated from 9 sources (see all 219):
(articles sorted by number of sources associating them with COL7A1)

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Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. (PubMed id 1871109)^{1, 2, 3} Parente M.G.... Uitto J. (1991)
Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. (PubMed id 8088784)^{1, 2, 9} Christiano A.M.... Greenspan D.S. (1994)
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. (PubMed id 9215684)^{1, 2, 9} Winberg J.-O.... Bruckner-Tuderman L. (1997)
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. (PubMed id 9326325)^{1, 2, 9} Hovnanian A....de Prost Y. (1997)
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. (PubMed id 8757758)^{1, 2, 9} Dunnill M.G.S.... Eady R.A.J. (1996)
High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. (PubMed id 15888141)^{1, 4, 9} Csikos M....Bruckner-Tuderman L. (2005)
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. (PubMed id 10836608)^{1, 2, 9} Lee J.Y.-Y.... Uitto J. (2000)
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. (PubMed id 10383749)^{1, 2, 9} Mellerio J.E.... McGrath J.A. (1999)
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. (PubMed id 10504458)^{1, 2, 9} Whittock N.V.... McGrath J.A. (1999)
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. (PubMed id 11142768)^{1, 2, 9} Murata T....Nishikawa T. (2000)

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

Query String		PubMed OMIM 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: 1294	HGNC: 2214	AceView: COL7A1.1	Ensembl:ENSG00000114270	euGenes: HUgn1294
ECgene: COL7A1	H-InvDB: COL7A1

(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 COL7A1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1

Intellectual Property for COL7A1 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 COL7A1 gene:
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GeneCards and IP:
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COL7A1 Gene

collagen, type VII, alpha 1

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COL7A1 Gene

collagen, type VII, alpha 1

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