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Aliases for ABCC6P2 Gene

Aliases for ABCC6P2 Gene

  • ATP Binding Cassette Subfamily C Member 6 Pseudogene 2 2 3 5
  • ATP-Binding Cassette, Sub-Family C, Member 6 Pseudogene 2 2

External Ids for ABCC6P2 Gene

Previous GeneCards Identifiers for ABCC6P2 Gene

  • GC16U900666
  • GC16M014825
  • GC16M014920

Summaries for ABCC6P2 Gene

GeneCards Summary for ABCC6P2 Gene

ABCC6P2 (ATP Binding Cassette Subfamily C Member 6 Pseudogene 2) is a Pseudogene.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC6P2 Gene

Genomics for ABCC6P2 Gene

Regulatory Elements for ABCC6P2 Gene

Enhancers for ABCC6P2 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
GH16G014833 0.7 ENCODE 0.4 -8.9 -8937 0.2 CTCF PKNOX1 ZBTB2 BHLHE40 NRF1 SP2 MNT ZBTB8A ZNF143 ZBTB26 NOMO1 ABCC6P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCC6P2 on UCSC Golden Path with GeneCards custom track

Promoters for ABCC6P2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000083735 102 801 SCRT2 GLIS1 ZBTB8A ZIC2

Genomic Location for ABCC6P2 Gene

Chromosome:
16
Start:
14,820,792 bp from pter
End:
14,824,702 bp from pter
Size:
3,911 bases
Orientation:
Minus strand

Genomic View for ABCC6P2 Gene

Genes around ABCC6P2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC6P2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC6P2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCC6P2 Gene

Proteins for ABCC6P2 Gene

Post-translational modifications for ABCC6P2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ABCC6P2 Gene

Domains & Families for ABCC6P2 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ABCC6P2 Gene

Function for ABCC6P2 Gene

Animal Model 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 ABCC6P2 Gene

Localization for ABCC6P2 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for ABCC6P2 Gene

Pathways & Interactions for ABCC6P2 Gene

SuperPathways for ABCC6P2 Gene

No Data Available

Interacting Proteins for ABCC6P2 Gene

Gene Ontology (GO) - Biological Process for ABCC6P2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ABCC6P2 Gene

Drugs & Compounds for ABCC6P2 Gene

No Compound Related Data Available

Transcripts for ABCC6P2 Gene

mRNA/cDNA for ABCC6P2 Gene

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

Unigene Clusters for ABCC6P2 Gene

ATP-binding cassette, sub-family C, member 6 pseudogene 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC6P2 Gene

No ASD Table

Relevant External Links for ABCC6P2 Gene

GeneLoc Exon Structure for
ABCC6P2
ECgene alternative splicing isoforms for
ABCC6P2

Expression for ABCC6P2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCC6P2 Gene

mRNA differential expression in normal tissues according to GTEx for ABCC6P2 Gene

This gene is overexpressed in Kidney - Cortex (x11.2), Liver (x10.0), and Colon - Transverse (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of ABCC6P2 Gene:

ABCC6P2

SOURCE GeneReport for Unigene cluster for ABCC6P2 Gene:

Hs.460057
genes like me logo Genes that share expression patterns with ABCC6P2: 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 ABCC6P2 Gene

Orthologs for ABCC6P2 Gene

Evolution for ABCC6P2 Gene

ENSEMBL:
Gene Tree for ABCC6P2 (if available)
TreeFam:
Gene Tree for ABCC6P2 (if available)

No data available for Orthologs for ABCC6P2 Gene

Paralogs for ABCC6P2 Gene

No data available for Paralogs for ABCC6P2 Gene

Variants for ABCC6P2 Gene

Sequence variations from dbSNP and Humsavar for ABCC6P2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000118698 -- 14,825,696(+) AGATA(C/T)TATCC upstream-variant-2KB
rs1000489505 -- 14,826,025(+) TTATT(A/G)CCGCT upstream-variant-2KB
rs1001095357 -- 14,824,239(+) CTCCC(C/T)GGCCC intron-variant
rs1001463193 -- 14,824,540(+) AATTT(-/G)GGGGT intron-variant
rs1001527043 -- 14,824,022(+) TTTAC(C/T)CCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCC6P2 Gene

Variant ID Type Subtype PubMed ID
dgv2738n100 CNV gain 25217958
dgv2740n100 CNV loss 25217958
dgv2741n100 CNV gain+loss 25217958
dgv2742n100 CNV gain 25217958
dgv2744n100 CNV loss 25217958
dgv2745n100 CNV gain 25217958
dgv2746n100 CNV gain+loss 25217958
dgv2747n100 CNV loss 25217958
esv2758632 CNV gain+loss 17122850
esv2760416 CNV gain+loss 21179565
esv2762254 CNV gain+loss 21179565
esv32598 CNV gain 17666407
esv3570331 CNV gain 25503493
nsv1075911 CNV duplication 25765185
nsv1160344 CNV deletion 26073780
nsv1160345 CNV duplication 26073780
nsv510676 CNV deletion 20534489
nsv511045 OTHER complex 20534489
nsv7277 OTHER inversion 18451855
nsv984263 CNV duplication 23825009

Relevant External Links for ABCC6P2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC6P2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ABCC6P2 Gene

Disorders for ABCC6P2 Gene

Relevant External Links for ABCC6P2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCC6P2

No disorders were found for ABCC6P2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABCC6P2 Gene

Publications for ABCC6P2 Gene

  1. Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes. (PMID: 22873774) Kringen M.K. … Piehler A.P. (BMC Res Notes 2012) 2 3 64
  2. The human ABC transporter pseudogene family: Evidence for transcription and gene-pseudogene interference. (PMID: 18405356) Piehler A.P. … Kaminski W.E. (BMC Genomics 2008) 3 64
  3. Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6. (PMID: 15760889) ArA!nyi T. … VA!radi A. (J. Biol. Chem. 2005) 3 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for ABCC6P2 Gene

Sources for ABCC6P2 Gene

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