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Aliases for COL6A4P2 Gene

Aliases for COL6A4P2 Gene

  • Collagen, Type VI, Alpha 4 Pseudogene 2 2 3
  • Alpha Collagen Containing Double Von Willebrand Factor A Domains 3
  • Collagen VI Alpha 4 Pseudogene 2 3
  • Collagen 2
  • Alpha 4 2
  • Type VI 2
  • COL6A4 3

External Ids for COL6A4P2 Gene

Previous GeneCards Identifiers for COL6A4P2 Gene

  • GC03P131446
  • GC03P129854
  • GC03P129931

Summaries for COL6A4P2 Gene

Entrez Gene Summary for COL6A4P2 Gene

  • This transcribed pseudogene represents the 3' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). The predicted ORF contains multiple premature stop codons. A large chromosome break separates this pseudogene from the 5' end of the presumed ortholog (DVWA, GeneID 344875) which is located upstream at chromosome 3p24.3. [provided by RefSeq, Jun 2009]

GeneCards Summary for COL6A4P2 Gene

COL6A4P2 (Collagen, Type VI, Alpha 4 Pseudogene 2) 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 COL6A4P2 Gene

Genomics for COL6A4P2 Gene

Genomic Location for COL6A4P2 Gene

Start:
130,212,820 bp from pter
End:
130,273,806 bp from pter
Size:
60,987 bases
Orientation:
Plus strand

Genomic View for COL6A4P2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL6A4P2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL6A4P2 Gene

No data available for Regulatory Elements for COL6A4P2 Gene

Proteins for COL6A4P2 Gene

Post-translational modifications for COL6A4P2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for COL6A4P2 Gene

Domains for COL6A4P2 Gene

Gene Families for COL6A4P2 Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COL6A4P2: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for COL6A4P2 Gene

Function for COL6A4P2 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for COL6A4P2 Gene

Localization for COL6A4P2 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for COL6A4P2 Gene

Pathways for COL6A4P2 Gene

SuperPathways for COL6A4P2 Gene

No Data Available

Interacting Proteins for COL6A4P2 Gene

Gene Ontology (GO) - Biological Process for COL6A4P2 Gene

None

No data available for Pathways by source for COL6A4P2 Gene

Transcripts for COL6A4P2 Gene

mRNA/cDNA for COL6A4P2 Gene

(1) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL6A4P2 Gene

Collagen, type VI, alpha 4 pseudogene 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL6A4P2 Gene

No ASD Table

Relevant External Links for COL6A4P2 Gene

GeneLoc Exon Structure for
COL6A4P2
ECgene alternative splicing isoforms for
COL6A4P2

Expression for COL6A4P2 Gene

mRNA expression in normal human tissues for COL6A4P2 Gene

mRNA differential expression in normal tissues according to GTEx for COL6A4P2 Gene

This gene is overexpressed in Ovary (8.9) and Kidney - Cortex (4.8).

SOURCE GeneReport for Unigene cluster for COL6A4P2 Gene Hs.170475

genes like me logo Genes that share expressions with COL6A4P2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt for COL6A4P2 Gene

Orthologs for COL6A4P2 Gene

Evolution for COL6A4P2 Gene

ENSEMBL:
Gene Tree for COL6A4P2 (if available)
TreeFam:
Gene Tree for COL6A4P2 (if available)

No data available for Orthologs for COL6A4P2 Gene

Paralogs for COL6A4P2 Gene

No data available for Paralogs for COL6A4P2 Gene

Variants for COL6A4P2 Gene

Sequence variations from dbSNP and Humsavar for COL6A4P2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs896821 -- 130,261,002(+) TGCTA(C/T)GGTAA nc-transcript-variant
rs896822 -- 130,259,987(-) GGGGC(C/T)GCTGA intron-variant
rs896823 -- 130,259,950(-) TGGCA(C/T)GTAGC intron-variant
rs935916 -- 130,258,931(-) TCTAG(C/T)GTGAA intron-variant
rs1453253 -- 130,272,375(+) TAAGG(A/G)TACAT nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for COL6A4P2 Gene

Variant ID Type Subtype PubMed ID
dgv1495e1 CNV Complex 17122850
dgv1497e1 CNV Complex 17122850
nsv829723 CNV Gain 17160897
esv24757 CNV Gain+Loss 19812545
nsv428420 CNV Gain 18775914
dgv1507e1 CNV Complex 17122850
dgv1508e1 CNV Complex 17122850
nsv877493 CNV Gain 21882294
esv271894 CNV Insertion 20981092
esv273557 CNV Insertion 20981092
esv1094969 CNV Insertion 17803354
nsv877494 CNV Gain 21882294

Relevant External Links for COL6A4P2 Gene

HapMap Linkage Disequilibrium report
COL6A4P2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL6A4P2 Gene

Disorders for COL6A4P2 Gene

Relevant External Links for COL6A4P2

Genetic Association Database (GAD)
COL6A4P2
genes like me logo Genes that share disorders with COL6A4P2: view

No data available for UniProtKB/Swiss-Prot for COL6A4P2 Gene

Publications for COL6A4P2 Gene

  1. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3
  2. Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). (PMID: 18400749) Fitzgerald J. … Hansen U. (J. Biol. Chem. 2008) 3
  3. 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) 3
  4. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PMID: 22952603) Hart A.B. … Palmer A.A. (PLoS ONE 2012) 3
  5. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PMID: 19875614) Paterson A.D. … Bull S.B. (Diabetes 2010) 48

Products for COL6A4P2 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate COL6A4P2
    • 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
    • Predesigned siRNA for gene silencing in human,mouse,rat for COL6A4P2
    • Block miRNA regulation of COL6A4P2 using miScript Target Protectors

    Sources for COL6A4P2 Gene

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