Homo sapiens Gene: DEFB104A
Summary
InnateDB Gene IDBG-6642.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DEFB104A
Gene Name defensin, beta 104A
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000176782
Encoded Proteins
defensin, beta 104A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Defensins form a family of microbicidal 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 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] Defensins form a family of microbicidal 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 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:7836471-7841242
Strand Forward strand
Band p23.1
Transcripts
ENST00000314265 ENSP00000320813
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0042742 defense response to bacterium
Cellular Component
GO:0005576 extracellular region
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Beta defensins pathway
Defensins pathway
Innate Immune System pathway
Immune System pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q8WTQ1
TrEMBL
UniProt Splice Variant
Entrez Gene 503618
UniGene Hs.559507 Hs.742246
RefSeq NM_080389
HUGO HGNC:18115
OMIM
CCDS CCDS34834
HPRD
IMGT
EMBL AJ314834 AJ314835 BC100848 BC100849 BC100850 BC100851
GenPept AAI00849 AAI00850 AAI00851 AAI00852 CAC85511 CAC85520
RNA Seq Atlas 140596 503618