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Aliases for COL6A4P2 Gene

Aliases for COL6A4P2 Gene

  • Collagen Type VI Alpha 4 Pseudogene 2 2 3 5
  • Collagen, Type VI, Alpha 4 2 3
  • Alpha Collagen Containing Double Von Willebrand Factor A Domains 3
  • Collagen, Type VI, Alpha 4 Pseudogene 2 2
  • Collagen VI Alpha 4 Pseudogene 2 3
  • 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.

Additional gene information for COL6A4P2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A4P2 Gene

Genomics for COL6A4P2 Gene

GeneHancer (GH) Regulatory Elements for COL6A4P2 Gene

Promoters and enhancers for COL6A4P2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J130109 Promoter/Enhancer 1.5 Ensembl ENCODE 40.8 -101.1 -101100 3.7 HDGF CLOCK ATF1 ARID4B SIN3A FEZF1 DMAP1 YY1 GLIS2 ELK1 FAM86HP LINC02021 COL6A4P2 GC03M130005 ALG1L2
GH03J130097 Enhancer 0.8 Ensembl ENCODE 41.8 -114.0 -113968 1.8 SCRT1 CTCF ZNF654 REST ZBTB40 SCRT2 NR2C1 KDM1A ZNF444 COL6A4P2 LINC02021 FAM86HP LINC02014 GC03M130005 ALG1L2
GH03J130178 Enhancer 1 Ensembl ENCODE 23.1 -32.9 -32887 2.9 HDGF HDAC1 NFRKB BMI1 ATF7 CEBPB ELF1 ZNF592 SMARCA4 MTA1 COL6A4P2 LINC02021 ENPP7P3 SNRPCP8 GC03P130203
GH03J130183 Enhancer 0.8 ENCODE 21.1 -29.1 -29062 1.3 HDAC1 PKNOX1 ARNT ZBTB40 CHAMP1 TCF12 POLR2B EGR1 ATF7 CEBPB COL6A4P2 GC03P130203 ENPP7P3 SNRPCP8
GH03J130093 Enhancer 0.9 Ensembl ENCODE 18.5 -118.5 -118507 2.1 MEIS2 PKNOX1 TAL1 MAX BATF KLF5 TCF12 CTBP1 FOXK2 EED LINC02014 ALG1L2 COL6A4P2 GC03M130005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COL6A4P2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COL6A4P2 Gene

Genomic Locations for COL6A4P2 Gene
chr3:130,212,820-130,273,806
(GRCh38/hg38)
Size:
60,987 bases
Orientation:
Plus strand
chr3:129,931,663-129,992,649
(GRCh37/hg19)

Genomic View for COL6A4P2 Gene

Genes around COL6A4P2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL6A4P2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL6A4P2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for COL6A4P2 Gene

Gene Families for COL6A4P2 Gene

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

Phenotypes From GWAS Catalog for COL6A4P2 Gene

Animal Model Products

Clone Products

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

Localization for COL6A4P2 Gene

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

Pathways & Interactions 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 and SIGNOR curated interactions for COL6A4P2 Gene

Drugs & Compounds for COL6A4P2 Gene

No Compound Related Data Available

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for COL6A4P2 Gene

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

This gene is overexpressed in Ovary (x8.9) and Kidney - Cortex (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of COL6A4P2 Gene:

COL6A4P2

SOURCE GeneReport for Unigene cluster for COL6A4P2 Gene:

Hs.170475
genes like me logo Genes that share expression patterns with COL6A4P2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000015548 -- 130,258,326(+) G/T intron_variant
rs1000018098 -- 130,218,202(+) A/G intron_variant
rs1000043605 -- 130,237,840(+) G/T intron_variant
rs1000046913 -- 130,258,540(+) C/T intron_variant
rs1000088255 -- 130,216,637(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv1094969 CNV insertion 17803354
esv24757 CNV gain+loss 19812545
esv2759177 CNV gain+loss 17122850
esv3361411 CNV duplication 20981092
esv3429847 CNV insertion 20981092
esv3441597 CNV insertion 20981092
esv3597759 CNV loss 21293372
nsv428420 CNV gain 18775914
nsv478711 CNV novel sequence insertion 20440878
nsv829723 CNV gain 17160897
nsv967062 CNV duplication 23825009
nsv997826 CNV gain 25217958

Additional Variant Information for COL6A4P2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL6A4P2

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

Disorders for COL6A4P2 Gene

Additional Disease Information for COL6A4P2

No disorders were found for COL6A4P2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COL6A4P2 Gene

Publications for COL6A4P2 Gene

  1. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PMID: 22952603) Hart AB … Palmer AA (PloS one 2012) 3 58
  2. 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 AD … Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (Diabetes 2010) 44 58
  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 biology : journal of the International Society for Matrix Biology 2009) 3 58
  4. Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). (PMID: 18400749) Fitzgerald J … Hansen U (The Journal of biological chemistry 2008) 3 58
  5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R … Stanton LW (Nature biotechnology 2004) 3 58

Products for COL6A4P2 Gene

Sources for COL6A4P2 Gene

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