DEFA4 (defensin alpha 4)

Gene Basic Information

Gene Basic Information

symbol
DEFA4
locus group
protein-coding gene
location
8p23.1
gene_family
Defensins, alpha
alias symbol
HP-4
alias name
None
entrez id
1669
ensembl gene id
ENSG00000164821
ucsc gene id
uc003wqu.2
refseq accession
NM_001925
hgnc_id
HGNC:2763
approved reserved
1993-11-05

Chromosome Location

Chromosome Location

8p23.1

Gene Summary

Gene Summary

ChineseEnglish

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]

OMIM entry for DEFA4     Wikipedia entry for DEFA4

Gene Sequence

Gene Sequence

Nucleotide sequence of DEFA4:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ
41DISISFAWDK SSALQVSGST RGMVCSCRLV FCRRTELRVG
81 NCLIGGVSF TYCCTRVD
Structure predicted by AlphaFold DB(UniProt: P12838). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of DEFA4:           Showing partial SNPs
rs736227       rs2239667       rs2239668       rs2615769       rs2702867       rs2702868       rs2738098       rs2738100       rs2738102       rs2741674       rs2741675       rs2741676       rs2741677       rs2741678       rs2741679       rs2741680       rs2741681      

Gene Expression

Gene Expression

Tissue expression of DEFA4:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GGTTTCAGGCTCAACAAGG
59
ACTCACACCACCAATGAGG
60
CTCTTCAGGTTTCAGGCTC
58
TTCCCAACACGAAGTTCTG
58
CTCTTCAGGTTTCAGGCTC
58
CAACACGAAGTTCTGTTCG
57

Gene Ontology

Subcellular localization of DEFA4 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for DEFA4:

GO ID
Protein
Source DB
GO:0005576
P12838 (UniProtKB)
TAS
GO:0005576
P12838 (UniProtKB)
TAS
GO:0005576
P12838 (UniProtKB)
TAS
GO:0005615
P12838 (UniProtKB)
IEA
GO:0005796
P12838 (UniProtKB)
TAS
GO:0019730
P12838 (UniProtKB)
IDA
GO:0019731
P12838 (UniProtKB)
IDA
GO:0019731
P12838 (UniProtKB)
IDA
GO:0031640
P12838 (UniProtKB)
IEA
GO:0042582
P12838 (UniProtKB)
IDA
GO:0045087
P12838 (UniProtKB)
IDA
GO:0045087
P12838 (UniProtKB)
IDA
GO:0045087
P12838 (UniProtKB)
TAS
GO:0050829
P12838 (UniProtKB)
IDA
GO:0050830
P12838 (UniProtKB)
IDA
GO:0050832
P12838 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating DEFA4:     

Gene Interactions

Gene Interactions

String
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
HIV Infections 0.004734064 2 0 GAD
Meningococcal Infections 0.002638474 1 0 BeFree_GAD
Dermatitis, Atopic 0.002367032 1 0 GAD
Mixed Salivary Gland Tumor 0.000271442 1 0 BeFree

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