Human Gene DEFB4A (ENST00000302247.3_4) from GENCODE V47lift37

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Description: defensin beta 4A (from RefSeq NM_004942.4)
Gencode Transcript: ENST00000302247.3_4
Gencode Gene: ENSG00000171711.3_7
Transcript (Including UTRs)
Position: hg19 chr8:7,752,199-7,754,238 Size: 2,040 Total Exon Count: 2 Strand: +
Coding Region
Position: hg19 chr8:7,752,235-7,754,132 Size: 1,898 Coding Exon Count: 2

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr8:7,752,199-7,754,238)			mRNA (may differ from genome)		Protein (64 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	HGNC
Malacards	MGI	OMIM	PubMed	Reactome	UniProtKB
Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: DFB4A_HUMAN DESCRIPTION: RecName: Full=Beta-defensin 4A; AltName: Full=Beta-defensin 2; Short=BD-2; Short=hBD-2; AltName: Full=Defensin, beta 2; AltName: Full=Skin-antimicrobial peptide 1; Short=SAP1; Flags: Precursor; FUNCTION: Has antibacterial activity (Potential). SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Expressed in the skin and respiratory tract. INDUCTION: By inflammation. SIMILARITY: Belongs to the beta-defensin family. LAP/TAP subfamily.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: DEFB4A Diseases sorted by gene-association score: oral candidiasis (30), tinea corporis (23), cervicitis (21), urethritis (20), dermatophytosis (16), vulvovaginal candidiasis (13), cholesteatoma of middle ear (12), candidiasis (11), corneal abscess (11), cholesteatoma (10), microsporidiosis (10), lichen planus (9), septic arthritis (9), tinea cruris (9), anal fistula (9), acne (9), eumycotic mycetoma (8), salmonellosis (8), folliculitis (8), bacterial vaginosis (8), aleutian mink disease (7), leukoplakia (7), cellulitis (7), sinusitis (6), sebaceous gland disease (6), osteonecrosis of the jaw (6), gingivitis (6), esophageal candidiasis (6), dermatomycosis (6), bronchiolitis obliterans (6), vaginal disease (5), atopic dermatitis (4), gastritis (4), periodontal disease (3), cystic fibrosis (3), eye disease (1)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D000111 Acetylcysteine D005978 Glutathione D008070 Lipopolysaccharides D014028 Tobacco Smoke Pollution

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 1.33 RPKM in Esophagus - Mucosa Total median expression: 1.53 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

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-6.70	36	-0.186	Picture	PostScript	Text
3' UTR	-24.30	106	-0.229	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
IPR001855 - Defensin_beta-typ
IPR006080 - Defensin_beta/neutrophil

Pfam Domains:
PF00711 - Beta defensin

SCOP Domains:
57392 - Defensin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1E4Q - NMR

1FD3 - X-ray

1FD4 - X-ray

1FQQ - NMR MuPIT

ModBase Predicted Comparative 3D Structure on O15263


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
	Gene Details
	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005515 protein binding GO:0031731 CCR6 chemokine receptor binding Biological Process: GO:0006935 chemotaxis GO:0006952 defense response GO:0006955 immune response GO:0007186 G-protein coupled receptor signaling pathway GO:0019730 antimicrobial humoral response GO:0031640 killing of cells of other organism GO:0042742 defense response to bacterium GO:0050829 defense response to Gram-negative bacterium GO:0050830 defense response to Gram-positive bacterium Cellular Component: GO:0005576 extracellular region GO:0005615 extracellular space GO:0005622 intracellular GO:0005796 Golgi lumen

Descriptions from all associated GenBank mRNAs


	LP896502 - Sequence 1366 from Patent EP3253886. JD330057 - Sequence 311081 from Patent EP1572962. BC069285 - Homo sapiens defensin, beta 4, mRNA (cDNA clone MGC:97415 IMAGE:7262691), complete cds. BC093985 - Homo sapiens defensin, beta 4, mRNA (cDNA clone MGC:121020 IMAGE:7939830), complete cds. BC093983 - Homo sapiens defensin, beta 4, mRNA (cDNA clone MGC:121018 IMAGE:7939828), complete cds. Z71389 - H.sapiens mRNA for skin-antimicrobial-peptide 1 (SAP1). KJ891044 - Synthetic construct Homo sapiens clone ccsbBroadEn_00438 DEFB4A gene, encodes complete protein. JD310098 - Sequence 291122 from Patent EP1572962. JD335027 - Sequence 316051 from Patent EP1572962. JD437163 - Sequence 418187 from Patent EP1572962. JD427452 - Sequence 408476 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein O15263 (Reactome details) participates in the following event(s): R-HSA-1973968 Beta-defensins 4A and 103 bind CCR2 R-HSA-1471338 Beta-defensins 1, 4A and 103 bind CCR6 R-HSA-1471322 Beta-defensins are secreted R-HSA-1461957 Beta defensins R-HSA-1461973 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: DEFB102, DEFB2, DEFB4, DEFB4B, DFB4A_HUMAN, ENST00000302247.1, ENST00000302247.2, NM_004942, O15263, Q52LC0, uc317mzj.1, uc317mzj.2 UCSC ID: ENST00000302247.3_4 RefSeq Accession: NM_004942.4 Protein: O15263 (aka DFB4A_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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