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DEFB104A defensin beta 104A [ Homo sapiens (human) ]

Gene ID: 140596, updated on 13-May-2022

Summary

Official Symbol
DEFB104Aprovided by HGNC
Official Full Name
defensin beta 104Aprovided by HGNC
Primary source
HGNC:HGNC:18115
See related
Ensembl:ENSG00000176782 AllianceGenome:HGNC:18115
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BD-4; DEFB4; hBD-4; DEFB-4; DEFB104
Summary
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 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DEFB104A in Genome Data Viewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7836436..7841242)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (11982449..11987259)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7693958..7698764)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene defensin beta 105A Neighboring gene defensin beta 106A Neighboring gene sperm associated antigen 11A Neighboring gene defensin beta 103A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
beta-defensin 104
Names
defensin, beta 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033023.1 RefSeqGene

    Range
    4966..9772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080389.3NP_525128.2  beta-defensin 104 precursor

    See identical proteins and their annotated locations for NP_525128.2

    Status: REVIEWED

    Source sequence(s)
    AC084121, BC100851
    Consensus CDS
    CCDS34834.1
    UniProtKB/Swiss-Prot
    Q8WTQ1
    Related
    ENSP00000320813.2, ENST00000314265.3
    Conserved Domains (1) summary
    pfam13841
    Location:2958
    Defensin_beta_2; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    7836436..7841242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    744233..749041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    11982449..11987259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)