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Aliases for COL6A4P1 Gene

Aliases for COL6A4P1 Gene

  • Collagen, Type VI, Alpha 4 Pseudogene 1 2 3
  • Von Willebrand Factor A Domain Containing 6 2 3
  • Dual Von Willebrand Factor A Domains 2 3
  • Alpha 4 2 2
  • Diva 3 6
  • DVWA 3 6
  • Dual Intracellular Von Willebrand Factor Domain A 3
  • Collagen, Type VI, Alpha 4, Pseudogene 3
  • Collagen VI Alpha 4 Pseudogene 1 3
  • Pseudogene 2
  • LOC344875 6
  • Collagen 2
  • Type VI 2
  • COL6A4P 3
  • COL6A4 3
  • VWA6 3

External Ids for COL6A4P1 Gene

Previous HGNC Symbols for COL6A4P1 Gene

  • DVWA

Previous GeneCards Identifiers for COL6A4P1 Gene

  • GC03M015187
  • GC03M015142
  • GC03M015193

Summaries for COL6A4P1 Gene

Entrez Gene Summary for COL6A4P1 Gene

  • This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009]

GeneCards Summary for COL6A4P1 Gene

COL6A4P1 (Collagen, Type VI, Alpha 4 Pseudogene 1) is a Pseudogene.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A4P1 Gene

Genomics for COL6A4P1 Gene

Genomic Location for COL6A4P1 Gene

15,151,833 bp from pter
15,205,959 bp from pter
54,127 bases
Minus strand

Genomic View for COL6A4P1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL6A4P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL6A4P1 Gene

No data available for Regulatory Elements for COL6A4P1 Gene

Proteins for COL6A4P1 Gene

Post-translational modifications for COL6A4P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for COL6A4P1 Gene

Domains for COL6A4P1 Gene

Gene Families for COL6A4P1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COL6A4P1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for COL6A4P1 Gene

Function for COL6A4P1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for COL6A4P1 Gene

Localization for COL6A4P1 Gene

Subcellular locations from

Jensen Localization Image for COL6A4P1 Gene COMPARTMENTS Subcellular localization image for COL6A4P1 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for COL6A4P1 Gene

Pathways for COL6A4P1 Gene

SuperPathways for COL6A4P1 Gene

No Data Available

Interacting Proteins for COL6A4P1 Gene

Gene Ontology (GO) - Biological Process for COL6A4P1 Gene


No data available for Pathways by source for COL6A4P1 Gene

Transcripts for COL6A4P1 Gene

mRNA/cDNA for COL6A4P1 Gene

(1) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL6A4P1 Gene

Collagen, type VI, alpha 4 pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL6A4P1 Gene

No ASD Table

Relevant External Links for COL6A4P1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL6A4P1 Gene

mRNA expression in normal human tissues for COL6A4P1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL6A4P1 Gene

This gene is overexpressed in Nerve - Tibial (8.4), Cervix - Ectocervix (7.0), Vagina (6.4), and Bladder (6.2).

SOURCE GeneReport for Unigene cluster for COL6A4P1 Gene Hs.722756

genes like me logo Genes that share expressions with COL6A4P1: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners for COL6A4P1 Gene

Orthologs for COL6A4P1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for COL6A4P1 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Col6a4 16
Species with no ortholog for COL6A4P1:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for COL6A4P1 Gene

Gene Tree for COL6A4P1 (if available)
Gene Tree for COL6A4P1 (if available)

Paralogs for COL6A4P1 Gene

No data available for Paralogs for COL6A4P1 Gene

Variants for COL6A4P1 Gene

Sequence variations from dbSNP and Humsavar for COL6A4P1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs353092 -- 15,186,820(+) gtgtg(C/T)gcacc intron-variant
rs353093 -- 15,183,476(+) aacta(C/T)catag intron-variant
rs353094 -- 15,178,613(+) TGGGA(A/T)GTTAC intron-variant
rs589098 -- 15,193,337(+) gatgc(A/G)aaaat intron-variant
rs618762 -- 15,172,736(-) GGGAG(A/T)TACTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL6A4P1 Gene

Variant ID Type Subtype PubMed ID
nsv428413 CNV Gain 18775914

Relevant External Links for COL6A4P1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL6A4P1 Gene

Disorders for COL6A4P1 Gene

(1) University of Copenhagen DISEASES for COL6A4P1 Gene

Relevant External Links for COL6A4P1

Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with COL6A4P1: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for COL6A4P1 Gene

Publications for COL6A4P1 Gene

  1. The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5' part of the split COL6A4 gene. (PMID: 19486942) Wagener R. … Zaucke F. (Matrix Biol. 2009) 2 3
  2. [Genomic study of susceptibility genes for common bone and joint diseases]. (PMID: 19507504) Ikegawa S. (Nippon Rinsho 2009) 2 3
  3. Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population. (PMID: 20238217) Zhu L. … Jiang Q. (Rheumatol. Int. 2011) 3
  4. Cloning and characterization of the osteoarthritis-associated gene DVWA. (PMID: 21057832) Nakajima M. … Ikegawa S. (J. Bone Miner. Metab. 2011) 3
  5. Prediction model for knee osteoarthritis based on genetic and clinical information. (PMID: 20939878) Takahashi H. … Ikegawa S. (Arthritis Res. Ther. 2010) 3

Products for COL6A4P1 Gene

Sources for COL6A4P1 Gene

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