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Aliases for DEFB122 Gene

Aliases for DEFB122 Gene

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

External Ids for DEFB122 Gene

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

Genomic Location for DEFB122 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEFB122 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB122 Gene

Regulatory Elements 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 for DEFB122 Gene

Gene Families for DEFB122 Gene

HGNC:
  • DEFB :Defensins, beta

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 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 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 for DEFB122 Gene

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

This gene is overexpressed in Testis (39.2).

SOURCE GeneReport for Unigene cluster for DEFB122 Gene Hs.526624

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt for DEFB122 Gene

Orthologs for DEFB122 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB122 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Defb45 16
Species with no ortholog for DEFB122:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DEFB122 Gene

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

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 MAF
rs2145077 -- 31,430,693(+) AATTA(C/T)AGGCA upstream-variant-2KB
rs2145078 -- 31,430,739(+) TAAGA(A/G)TGAGA upstream-variant-2KB
rs2180566 -- 31,431,051(+) tgcta(C/T)aaaag upstream-variant-2KB
rs2376859 -- 31,430,302(+) AGTGT(G/T)TCACT upstream-variant-2KB
rs2376860 -- 31,430,303(+) GTGTT(C/T)CACTG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990
nsv912835 CNV Gain 21882294

Relevant External Links for DEFB122 Gene

HapMap Linkage Disequilibrium report
DEFB122

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

Disorders for DEFB122 Gene

Relevant External Links for DEFB122

Genetic Association Database (GAD)
DEFB122
genes like me logo Genes that share disorders with DEFB122: view

No data available for UniProtKB/Swiss-Prot for DEFB122 Gene

Publications for DEFB122 Gene

  1. 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
  2. Identification, characterization, and evolution of a primate beta- defensin gene cluster. (PMID: 15772680) Radhakrishnan Y. … Hall S.H. (Genes Immun. 2005) 2 3
  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) 48

Products for DEFB122 Gene

Sources for DEFB122 Gene

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