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Aliases for DEFA8P Gene

Aliases for DEFA8P Gene

  • Defensin Alpha 8, Pseudogene 2 3 5
  • Defensin, Alpha 8 Pseudogene 2
  • DEFAP1 3

External Ids for DEFA8P Gene

Previous GeneCards Identifiers for DEFA8P Gene

  • GC08U900506
  • GC08M006796
  • GC08M006587

Summaries for DEFA8P Gene

GeneCards Summary for DEFA8P Gene

DEFA8P (Defensin Alpha 8, Pseudogene) 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 DEFA8P Gene

Genomics for DEFA8P Gene

Regulatory Elements for DEFA8P Gene

Enhancers for DEFA8P 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
GH08G006958 0.9 ENCODE dbSUPER 0.4 -6.7 -6665 0.1 ZNF263 CTCF ZNF654 USF1 TRIM22 KLF17 MAX RBBP5 ZNF2 RAD21 ENSG00000254625 DEFA6 DEFA9P DEFA8P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFA8P on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFA8P Gene

Chromosome:
8
Start:
6,950,726 bp from pter
End:
6,951,599 bp from pter
Size:
874 bases
Orientation:
Minus strand

Genomic View for DEFA8P Gene

Genes around DEFA8P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFA8P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFA8P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFA8P Gene

Proteins for DEFA8P Gene

Post-translational modifications for DEFA8P Gene

No Post-translational modifications

No data available for DME Specific Peptides for DEFA8P Gene

Domains & Families for DEFA8P Gene

Gene Families for DEFA8P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DEFA8P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for DEFA8P Gene

Function for DEFA8P Gene

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 DEFA8P Gene

Localization for DEFA8P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for DEFA8P Gene

Pathways & Interactions for DEFA8P Gene

SuperPathways for DEFA8P Gene

No Data Available

Interacting Proteins for DEFA8P Gene

Gene Ontology (GO) - Biological Process for DEFA8P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DEFA8P Gene

Transcripts for DEFA8P Gene

mRNA/cDNA for DEFA8P Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DEFA8P Gene

No ASD Table

Relevant External Links for DEFA8P Gene

GeneLoc Exon Structure for
DEFA8P
ECgene alternative splicing isoforms for
DEFA8P

Expression for DEFA8P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFA8P Gene

mRNA differential expression in normal tissues according to GTEx for DEFA8P Gene

This gene is overexpressed in Whole Blood (x47.4).

NURSA nuclear receptor signaling pathways regulating expression of DEFA8P Gene:

DEFA8P

SOURCE GeneReport for Unigene cluster for DEFA8P Gene:

Hs.627154
genes like me logo Genes that share expression patterns with DEFA8P: 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 DEFA8P Gene

Orthologs for DEFA8P Gene

Evolution for DEFA8P Gene

ENSEMBL:
Gene Tree for DEFA8P (if available)
TreeFam:
Gene Tree for DEFA8P (if available)

No data available for Orthologs for DEFA8P Gene

Paralogs for DEFA8P Gene

No data available for Paralogs for DEFA8P Gene

Variants for DEFA8P Gene

Sequence variations from dbSNP and Humsavar for DEFA8P Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000232842 -- 6,951,485(+) CTGAT(A/C)ATCTG nc-transcript-variant
rs1002359590 -- 6,950,458(+) AACTT(A/G)GGTTT downstream-variant-500B
rs1002509020 -- 6,952,701(+) TGTTT(A/C)GAAGG upstream-variant-2KB
rs1002775427 -- 6,952,528(+) CCTAC(A/G)TGATA upstream-variant-2KB
rs1002999252 -- 6,951,973(+) CAGTG(G/T)AGTAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DEFA8P Gene

Variant ID Type Subtype PubMed ID
dgv6878n100 CNV gain 25217958
dgv6879n100 CNV gain 25217958
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv2764078 CNV loss 21179565
esv3576520 CNV gain 25503493
nsv1015244 CNV gain 25217958
nsv1019061 CNV loss 25217958
nsv1021684 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv428194 CNV gain+loss 18775914
nsv465436 CNV gain 19166990
nsv465437 CNV gain 19166990
nsv509248 CNV insertion 20534489
nsv524367 CNV loss 19592680
nsv528374 CNV gain 19592680
nsv610006 CNV gain 21841781
nsv610007 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv831221 CNV gain 17160897

Relevant External Links for DEFA8P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFA8P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFA8P Gene

Disorders for DEFA8P Gene

Relevant External Links for DEFA8P

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFA8P

No disorders were found for DEFA8P Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFA8P Gene

Publications for DEFA8P Gene

  1. Rapid evolution and diversification of mammalian alpha-defensins as revealed by comparative analysis of rodent and primate genes. (PMID: 15494476) Patil A. … Zhang G. (Physiol. Genomics 2004) 2 3 64
  2. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. (PMID: 15588320) Taudien S. … Platzer M. (BMC Genomics 2004) 2 3 64

Products for DEFA8P Gene

Sources for DEFA8P Gene

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