Free for academic non-profit institutions. Other users need a Commercial license

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.

Additional gene information for DEFB122 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 DEFB122 Gene

Genomics for DEFB122 Gene

GeneHancer (GH) Regulatory Elements for DEFB122 Gene

Promoters and enhancers for DEFB122 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
GH20J031709 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.6 -288.0 -288008 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 BCL2L1 ASXL1 TM9SF4 PLAGL2 MYLK2 COX4I2 PDRG1 DEFB121 RNU1-94P DEFB122
GH20J031513 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.7 -86.8 -86803 4.3 HDGF SMAD1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 HM13 ASXL1 DEFB124 DEFB123 DEFB122 DEFB121 DEFB118 RNU1-94P REM1 PDRG1
GH20J031661 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -237.3 -237291 10.6 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ASXL1 PDRG1 DEFB123 RNU1-94P DEFB122 DEFB121 DEFB118 TM9SF4 HM13 COX4I2
GH20J031495 Enhancer 0.9 Ensembl ENCODE 11.1 -68.1 -68086 2.6 MXI1 MAX KLF17 ZMYM3 BMI1 ZBTB40 ZIC2 RFX5 ZFHX2 GATA3 HM13 DEFB122 DEFB121 TRS-AGA7-1 LINC00028
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB122 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFB122 gene promoter:
  • ATF6
  • PPAR-gamma1
  • PPAR-gamma2
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for DEFB122 Gene

Genomic Locations for DEFB122 Gene
chr20:31,421,436-31,429,180
(GRCh38/hg38)
Size:
7,745 bases
Orientation:
Minus strand
chr20:30,003,051-30,016,977
(GRCh37/hg19)
Size:
13,927 bases
Orientation:
Plus 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 From GWAS Catalog for DEFB122 Gene

Phenotypes for DEFB122 Gene

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 , Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for DEFB122 Gene

No Compound Related Data Available

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 CGAP 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000260879 -- 31,424,630(-) A/T intron_variant
rs1000781050 -- 31,424,932(-) A/G intron_variant
rs1000854146 -- 31,425,828(-) G/C intron_variant
rs1001002162 -- 31,426,260(-) C/G intron_variant
rs1001167002 -- 31,421,124(-) A/G downstream_transcript_variant

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

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

Additional Variant Information 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

Additional Disease Information for 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 SH (Genes and immunity 2005) 2 3 58
  2. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PMID: 17903301) Vasan RS … Benjamin EJ (BMC medical genetics 2007) 44 58

Products for DEFB122 Gene

Sources for DEFB122 Gene

Content
Loading form....