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Aliases for DEFT1P2 Gene

Aliases for DEFT1P2 Gene

  • Defensin, Theta 1 Pseudogene 2 2 3 5

External Ids for DEFT1P2 Gene

Previous GeneCards Identifiers for DEFT1P2 Gene

  • GC00U930475
  • GC08M006864

Summaries for DEFT1P2 Gene

GeneCards Summary for DEFT1P2 Gene

DEFT1P2 (Defensin, Theta 1 Pseudogene 2) is a Pseudogene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFT1P2 Gene

Genomics for DEFT1P2 Gene

Genomic Location for DEFT1P2 Gene

7,006,281 bp from pter
7,008,824 bp from pter
2,544 bases
Minus strand

Genomic View for DEFT1P2 Gene

Genes around DEFT1P2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFT1P2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFT1P2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFT1P2 Gene

No data available for Regulatory Elements for DEFT1P2 Gene

Proteins for DEFT1P2 Gene

Post-translational modifications for DEFT1P2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DEFT1P2 Gene

Domains & Families for DEFT1P2 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 DEFT1P2 Gene

Function for DEFT1P2 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 DEFT1P2 Gene

Localization for DEFT1P2 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for DEFT1P2 Gene

Pathways & Interactions for DEFT1P2 Gene

SuperPathways for DEFT1P2 Gene

No Data Available

Interacting Proteins for DEFT1P2 Gene

Gene Ontology (GO) - Biological Process for DEFT1P2 Gene


No data available for Pathways by source and SIGNOR curated interactions for DEFT1P2 Gene

Transcripts for DEFT1P2 Gene

mRNA/cDNA for DEFT1P2 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFT1P2 Gene

No ASD Table

Relevant External Links for DEFT1P2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFT1P2 Gene

mRNA expression in normal human tissues for DEFT1P2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFT1P2 Gene:


SOURCE GeneReport for Unigene cluster for DEFT1P2 Gene:

genes like me logo Genes that share expression patterns with DEFT1P2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DEFT1P2 Gene

Orthologs for DEFT1P2 Gene

Evolution for DEFT1P2 Gene

Gene Tree for DEFT1P2 (if available)
Gene Tree for DEFT1P2 (if available)

No data available for Orthologs for DEFT1P2 Gene

Paralogs for DEFT1P2 Gene

No data available for Paralogs for DEFT1P2 Gene

Variants for DEFT1P2 Gene

Sequence variations from dbSNP and Humsavar for DEFT1P2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs137892785 -- 7,007,115(+) CCGAA(A/G)TGACA intron-variant
rs138352120 -- 7,010,456(+) TTTCC(A/G)CAGCA upstream-variant-2KB
rs138581228 -- 7,007,792(+) TACAG(-/G)TCTAC intron-variant
rs138622480 -- 7,006,723(+) ATTTG(A/C)GCTCA intron-variant
rs139341757 -- 7,005,801(+) TGTGG(A/T)CATCC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DEFT1P2 Gene

Variant ID Type Subtype PubMed ID
dgv11907n54 CNV loss 21841781
dgv11908n54 CNV gain 21841781
dgv11909n54 CNV loss 21841781
dgv11910n54 CNV loss 21841781
dgv2033e212 CNV loss 25503493
dgv2034e212 CNV loss 25503493
dgv3758n106 CNV deletion 24896259
dgv4043e59 CNV duplication 20981092
dgv6878n100 CNV gain 25217958
dgv6879n100 CNV gain 25217958
dgv6880n100 CNV loss 25217958
dgv6881n100 CNV gain 25217958
dgv6882n100 CNV gain 25217958
esv21544 CNV gain+loss 19812545
esv2736554 CNV deletion 23290073
esv2752262 CNV gain 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv2764122 CNV loss 21179565
esv3358388 CNV duplication 20981092
esv3384686 CNV duplication 20981092
esv3576520 CNV gain 25503493
nsv1015244 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv1115772 CNV duplication 24896259
nsv1141567 CNV duplication 24896259
nsv21 CNV deletion 15895083
nsv22 CNV insertion 15895083
nsv428194 CNV gain+loss 18775914
nsv435861 CNV deletion 17901297
nsv437041 CNV loss 16327808
nsv465436 CNV gain 19166990
nsv471499 CNV gain 19718026
nsv515096 CNV gain 21397061
nsv527917 CNV gain 19592680
nsv528374 CNV gain 19592680
nsv6060 CNV deletion 18451855
nsv6062 CNV insertion 18451855
nsv6064 CNV insertion 18451855
nsv610006 CNV gain 21841781
nsv610010 CNV gain 21841781
nsv610018 CNV loss 21841781
nsv610025 CNV loss 21841781
nsv610031 CNV loss 21841781
nsv820476 CNV duplication 20802225
nsv8278 CNV gain+loss 18304495
nsv831221 CNV gain 17160897
nsv950282 CNV duplication 24416366

Relevant External Links for DEFT1P2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFT1P2 Gene

Disorders for DEFT1P2 Gene

Relevant External Links for DEFT1P2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for DEFT1P2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFT1P2 Gene

Publications for DEFT1P2 Gene

  1. Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability. (PMID: 17214878) Ballana E. … Estivill X. (BMC Genomics 2007) 2 3 64
  2. Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3. (PMID: 15944200) Aldred P.M. … Armour J.A. (Hum. Mol. Genet. 2005) 2 3 64
  3. Proflie of Human I^-Defensins 1,2 and Proinflammatory Cytokines (TNF-I+, IL-6) in Patients with Chronic Kidney Disease. (PMID: 24356550) Oh D.J. … Woo Y.S. (Kidney Blood Press. Res. 2013) 3 64
  4. Retrocyclin: a primate peptide that protects cells from infection by T- and M-tropic strains of HIV-1. (PMID: 11854483) Cole A.M. … Lehrer R.I. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  5. 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 DEFT1P2 Gene

Sources for DEFT1P2 Gene

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