Human Gene DEFB107A (ENST00000335021.2)
  Description: Homo sapiens defensin beta 107A (DEFB107A), mRNA. (from RefSeq NM_001037668)
RefSeq Summary (NM_001037668): Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014].
Gencode Transcript: ENST00000335021.2
Gencode Gene: ENSG00000186572.2
Transcript (Including UTRs)
   Position: hg38 chr8:7,811,720-7,815,716 Size: 3,997 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr8:7,811,808-7,815,628 Size: 3,821 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsRNA-Seq ExpressionMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:7,811,720-7,815,716)mRNA (may differ from genome)Protein (70 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: D107A_HUMAN
DESCRIPTION: RecName: Full=Beta-defensin 107; AltName: Full=Beta-defensin 7; Short=BD-7; Short=DEFB-7; AltName: Full=Defensin, beta 107; Flags: Precursor;
FUNCTION: Has antibacterial activity (Potential).
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Specifically expressed in testis.
SIMILARITY: Belongs to the beta-defensin family.
CAUTION: It is uncertain whether Met-1 or Met-5 is the initiator.
SEQUENCE CAUTION: Sequence=AAZ81951.1; Type=Erroneous initiation;

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.00 RPKM in Adipose - Subcutaneous
Total median expression: 0.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.3088-0.185 Picture PostScript Text
3' UTR -17.5088-0.199 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025933 - Beta_defensin

Pfam Domains:
PF13841 - Beta defensin

ModBase Predicted Comparative 3D Structure on Q8IZN7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008289 lipid binding

Biological Process:
GO:0006952 defense response
GO:0042742 defense response to bacterium
GO:0045087 innate immune response
GO:0050829 defense response to Gram-negative bacterium
GO:0050830 defense response to Gram-positive bacterium

Cellular Component:
GO:0005576 extracellular region
GO:0009986 cell surface


-  Descriptions from all associated GenBank mRNAs
  BC148565 - Synthetic construct Homo sapiens clone IMAGE:100015489, MGC:183057 defensin, beta 107B (DEFB107B) mRNA, encodes complete protein.
DQ119826 - Homo sapiens beta-defensin 107 (DEFB107) mRNA, complete cds.
BC137510 - Homo sapiens defensin, beta 107A, mRNA (cDNA clone MGC:169133 IMAGE:9021510), complete cds.
BC137513 - Homo sapiens defensin, beta 107A, mRNA (cDNA clone MGC:169136 IMAGE:9021513), complete cds.
BC156676 - Synthetic construct Homo sapiens clone IMAGE:100062143, MGC:190179 defensin, beta 107B (DEFB107B) mRNA, encodes complete protein.
AF540979 - Homo sapiens beta-defensin 107 (DEFB107) mRNA, partial cds.
AY122467 - Homo sapiens defensin beta 107 (DEFB107) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IZN7 (Reactome details) participates in the following event(s):

R-HSA-1471322 Beta-defensins are secreted
R-HSA-1461973 Defensins
R-HSA-1461957 Beta defensins
R-HSA-6803157 Antimicrobial peptides
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2RPM1, D107A_HUMAN, DEFB107, DEFB107B, DEFB7, ENST00000335021.1, NM_001037668, Q30E75, Q8IZN7, Q8NET2, uc003wrs.1
UCSC ID: ENST00000335021.2
RefSeq Accession: NM_001037668
Protein: Q8IZN7 (aka D107A_HUMAN)
CCDS: CCDS43699.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.