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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 3

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.

Additional gene information for ABCC6P2 Gene

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

GeneHancer (GH) Regulatory Elements for ABCC6P2 Gene

Promoters and enhancers for ABCC6P2 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
GH16J014824 Promoter 0.5 Ensembl 650.7 +0.1 101 0.8 ABCC6P2 LOC105376749
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCC6P2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCC6P2 gene promoter:
  • Lmo2
  • AML1a
  • GATA-1
  • Sp1
  • Pax-6
  • LCR-F1
  • AREB6
  • MZF-1
  • p53

Genomic Locations for ABCC6P2 Gene

Genomic Locations for ABCC6P2 Gene
chr16:14,820,792-14,824,702
(GRCh38/hg38)
Size:
3,911 bases
Orientation:
Minus strand
chr16:14,914,649-14,918,563
(GRCh37/hg19)
Size:
3,915 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

Function for ABCC6P2 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 , Subcellular locations from the Human Protein Atlas (HPA) 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:

Clone Products

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 Variation AA Info Type
rs1000118698 -- 14,825,696(-) T/C upstream_transcript_variant
rs1000489505 -- 14,826,025(-) A/G upstream_transcript_variant
rs1001095357 -- 14,824,239(-) T/C intron_variant
rs1001527043 -- 14,824,022(-) T/C intron_variant
rs1002072360 -- 14,823,261(-) A/T intron_variant

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

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

Additional Variant Information 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

Additional Disease Information for 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 MK … Piehler AP (BMC research notes 2012) 2 3 58
  2. The human ABC transporter pseudogene family: Evidence for transcription and gene-pseudogene interference. (PMID: 18405356) Piehler AP … Kaminski WE (BMC genomics 2008) 3 58
  3. Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6. (PMID: 15760889) Arányi T … Váradi A (The Journal of biological chemistry 2005) 3 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for ABCC6P2 Gene

Sources for ABCC6P2 Gene

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