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Aliases for DEFB122 Gene

Aliases for DEFB122 Gene

  • Defensin Beta 122 (Pseudogene) 2 3 5
  • Defensin, Beta 122 2 3
  • Defensin, Beta 122 (Pseudogene) 2
  • Defensin, Beta 22 3
  • DEFB122P 3
  • DEFB-22 3
  • DEFB22 3

External Ids for DEFB122 Gene

Previous GeneCards Identifiers for DEFB122 Gene

  • GC20U990237
  • GC20P029466
  • GC20P030003
  • GC20P026791

Summaries for DEFB122 Gene

GeneCards Summary for DEFB122 Gene

DEFB122 (Defensin Beta 122 (Pseudogene)) 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 DEFB122 Gene

Genomics for DEFB122 Gene

Regulatory Elements for DEFB122 Gene

Enhancers for DEFB122 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
GH20F031661 1.8 FANTOM5 Ensembl ENCODE 16.2 -237.3 -237291 10.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF143 DEFB123 RNU1-94P DEFB122 DEFB121 DEFB118 PDRG1 HM13 COX4I2 TTLL9 MYLK2
GH20F031709 1.8 FANTOM5 Ensembl ENCODE 16.2 -288.0 -288009 14.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MYLK2 COX4I2 DEFB121 RNU1-94P DEFB122 DEFB123 DEFB118 REM1 LOC105372589 ID1
GH20F031513 1.4 FANTOM5 ENCODE 16.3 -86.8 -86803 4.3 HDGF CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 HM13 DEFB124 DEFB123 DEFB122 DEFB121 DEFB118 RNU1-94P REM1 PDRG1 ENSG00000274364
GH20F031495 1 Ensembl ENCODE 11.1 -68.1 -68086 2.6 MXI1 MAX KLF17 ZMYM3 BMI1 ZBTB40 ZIC2 ZFHX2 GATA3 PRDM10 HM13 DEFB122 DEFB121 TRS-AGA7-1 LINC00028
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB122 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB122 Gene

Chromosome:
20
Start:
31,421,436 bp from pter
End:
31,429,180 bp from pter
Size:
7,745 bases
Orientation:
Minus strand

Genomic View for DEFB122 Gene

Genes around DEFB122 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB122 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB122 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB122 Gene

Proteins for DEFB122 Gene

Post-translational modifications for DEFB122 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DEFB122 Gene

Domains & Families for DEFB122 Gene

Gene Families for DEFB122 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DEFB122: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for DEFB122 Gene

Function for DEFB122 Gene

Phenotypes for DEFB122 Gene

GenomeRNAi human phenotypes for DEFB122:
genes like me logo Genes that share phenotypes with DEFB122: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB122 Gene

Localization for DEFB122 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for DEFB122 Gene

Pathways & Interactions for DEFB122 Gene

SuperPathways for DEFB122 Gene

No Data Available

Interacting Proteins for DEFB122 Gene

Gene Ontology (GO) - Biological Process for DEFB122 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DEFB122 Gene

Transcripts for DEFB122 Gene

mRNA/cDNA for DEFB122 Gene

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

Unigene Clusters for DEFB122 Gene

Defensin, beta 122 (pseudogene):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB122 Gene

No ASD Table

Relevant External Links for DEFB122 Gene

GeneLoc Exon Structure for
DEFB122
ECgene alternative splicing isoforms for
DEFB122

Expression for DEFB122 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB122 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB122 Gene

This gene is overexpressed in Testis (x39.2).

NURSA nuclear receptor signaling pathways regulating expression of DEFB122 Gene:

DEFB122

SOURCE GeneReport for Unigene cluster for DEFB122 Gene:

Hs.526624
genes like me logo Genes that share expression patterns with DEFB122: 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 and mRNA Expression by UniProt/SwissProt for DEFB122 Gene

Orthologs for DEFB122 Gene

Evolution for DEFB122 Gene

ENSEMBL:
Gene Tree for DEFB122 (if available)
TreeFam:
Gene Tree for DEFB122 (if available)

No data available for Orthologs for DEFB122 Gene

Paralogs for DEFB122 Gene

No data available for Paralogs for DEFB122 Gene

Variants for DEFB122 Gene

Sequence variations from dbSNP and Humsavar for DEFB122 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs10084487 -- 31,425,330(+) ACAGG(A/G)AGCCT intron-variant
rs10084488 -- 31,425,366(+) GAGCT(A/G)TCTCC intron-variant
rs111278811 -- 31,429,770(+) ACGCC(C/G)TTTTT upstream-variant-2KB
rs11167202 -- 31,424,235(+) AAAAA(-/A)TCCAC intron-variant
rs111966450 -- 31,429,151(+) AGTGG(C/T)GTAAC nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB122 Gene

Variant ID Type Subtype PubMed ID
nsv585911 CNV gain 21841781
nsv585910 CNV gain 21841781
nsv470546 CNV gain 18288195
nsv458961 CNV gain 19166990
nsv1066091 CNV gain 25217958
nsv1060041 CNV gain 25217958
esv2763228 CNV gain 21179565
dgv4300n100 CNV gain 25217958
dgv4299n100 CNV gain 25217958

Relevant External Links for DEFB122 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB122

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFB122 Gene

Disorders for DEFB122 Gene

Relevant External Links for DEFB122

Genetic Association Database (GAD)
DEFB122
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB122

No disorders were found for DEFB122 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB122 Gene

Publications for DEFB122 Gene

  1. Identification, characterization, and evolution of a primate beta- defensin gene cluster. (PMID: 15772680) Radhakrishnan Y. … Hall S.H. (Genes Immun. 2005) 2 3 64
  2. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PMID: 17903301) Vasan R.S. … Benjamin E.J. (BMC Med. Genet. 2007) 46 64

Products for DEFB122 Gene

Sources for DEFB122 Gene

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