Aliases for COL6A4P2 Gene
Aliases for COL6A4P2 Gene
External Ids for COL6A4P2 Gene
- HGNC: 38501
- Entrez Gene: 646300
- Ensembl: ENSG00000228252
- OMIM: 616612
Previous GeneCards Identifiers for COL6A4P2 Gene
- GC03P131446
- GC03P129854
- GC03P129931
Summaries 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 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
Regulatory Elements for COL6A4P2 Gene
Enhancers for COL6A4P2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH03G130109 | 1 | ENCODE | 40.8 | -101.1 | -101101 | 3.7 | HDGF PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 YY1 TCF12 GLIS2 | COL6A4P2 FAM86HP LINC02021 |
| GH03G130097 | 0.9 | Ensembl ENCODE | 41.7 | -114.0 | -113969 | 1.8 | SCRT1 CTCF ZNF654 NR2F1 REST ZBTB40 SCRT2 NR2C1 KDM1A | COL6A4P2 LINC02021 FAM86HP LINC02014 |
| GH03G130178 | 1.1 | Ensembl ENCODE | 23.1 | -32.9 | -32887 | 2.9 | HDAC1 HDGF NFRKB BMI1 FEZF1 SCRT2 CEBPB ELF4 ELF1 ZNF592 | COL6A4P2 LINC02021 ENPP7P3 GC03P130203 SNRPCP8 |
| GH03G130093 | 1.1 | Ensembl ENCODE | 18.5 | -118.5 | -118508 | 2.1 | PKNOX1 TAL1 MAX TCF12 FOXK2 EED FOS PRDM10 RELB IKZF2 | ALG1L2 COL6A4P2 LINC02014 |
| GH03G130183 | 0.9 | ENCODE | 21.1 | -29.1 | -29062 | 1.3 | HDAC1 PKNOX1 CREB3L1 ARNT ZBTB40 CHAMP1 TCF12 EGR1 CEBPB ELF4 | COL6A4P2 ENPP7P3 SNRPCP8 GC03P130203 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COL6A4P2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for COL6A4P2 Gene
- Chromosome:
- 3
- 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
Genes around COL6A4P2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q22.1 by Ensembl
- 3q22.1 by Entrez Gene
- 3q22.1 by HGNC
COL6A4P2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL6A4P2 Gene
Proteins for COL6A4P2 Gene
Post-translational modifications for COL6A4P2 Gene
No Post-translational modifications
Antibody Products
- Search GeneTex for Antibodies for COL6A4P2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL6A4P2
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Assay Products
No data available for DME Specific Peptides for COL6A4P2 Gene
Domains & Families for COL6A4P2 Gene
Gene Families for COL6A4P2 Gene
- HGNC:
Graphical View of Domain Structure for InterPro Entry
No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for COL6A4P2 Gene
Function for COL6A4P2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL6A4P2
-
- Search ViGene Biosciences for COL6A4P2
CRISPR Products
- Browse CRISPR knockouts for COL6A4P2
miRNA Products
- Search ViGene Biosciences for COL6A4P2
Inhibitory RNA Products
- Search ViGene Biosciences for COL6A4P2
Clone Products
- GenScript: Custom all cDNA clones Services for COL6A4P2
- VectorBuilder custom plasmid, inducible vectors for COL6A4P2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A4P2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Flow Cytometry 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 and Gene Ontology (GO) - Cellular Components 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
CRISPR Products
- Browse CRISPR knockouts for COL6A4P2
miRNA Products
- Search ViGene Biosciences for COL6A4P2
Inhibitory RNA Products
- Search ViGene Biosciences for COL6A4P2
Clone Products
- GenScript: Custom all cDNA clones Services for COL6A4P2
- VectorBuilder custom plasmid, inducible vectors for COL6A4P2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A4P2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression 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:
COL6A4P2SOURCE GeneReport for Unigene cluster for COL6A4P2 Gene:
Hs.170475Primer Products
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
No data available for Orthologs for COL6A4P2 Gene
Paralogs for COL6A4P2 Gene
No data available for Paralogs for COL6A4P2 Gene
Variants for COL6A4P2 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000015548 | -- | 130,258,326(+) | CCTAT(G/T)AACCA | intron-variant | |
| rs1000018098 | -- | 130,218,202(+) | AATAC(A/G)TAAAG | intron-variant | |
| rs1000043605 | -- | 130,237,840(+) | TCCTT(G/T)GCATT | intron-variant | |
| rs1000046913 | -- | 130,258,540(+) | TATCG(C/T)AGCCT | intron-variant | |
| rs1000088255 | -- | 130,216,637(+) | TCCCA(A/G)CTACT | intron-variant |
| 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 |
Relevant External Links 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
Relevant External Links 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
- 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 64
- 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) 46 64
- 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 64
- Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). (PMID: 18400749) Fitzgerald J. … Hansen U. (J. Biol. Chem. 2008) 3 64
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 64
Products for COL6A4P2 Gene
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- Novus Biologicals
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- Cyagen custom Knockout/knockin (KOKI) mouse models for COL6A4P2
- VectorBuilder custom plasmid, inducible vectors for COL6A4P2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A4P2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for COL6A4P2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
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- (88) miRTarBase
- (89) MalaCards
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- (100) COMPARTMENTS
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