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DEFB104B defensin beta 104B [ Homo sapiens (human) ]

Gene ID: 503618, updated on 5-Aug-2022

Summary

Official Symbol
DEFB104Bprovided by HGNC
Official Full Name
defensin beta 104Bprovided by HGNC
Primary source
HGNC:HGNC:26165
See related
Ensembl:ENSG00000177023 AllianceGenome:HGNC:26165
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; hBD-4; DEFB-4
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, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DEFB104B 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 (7470308..7475082, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7199315..7204090, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7327830..7332604, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin beta 103B Neighboring gene sperm associated antigen 11B Neighboring gene defensin beta 106B Neighboring gene defensin beta 105B

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
beta-defensin 104
Names
beta-defensin 4
defensin, beta 104

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.

mRNA and Protein(s)

  1. NM_001040702.1NP_001035792.1  beta-defensin 104 precursor

    See identical proteins and their annotated locations for NP_001035792.1

    Status: REVIEWED

    Source sequence(s)
    AC130360
    Consensus CDS
    CCDS34812.1
    UniProtKB/Swiss-Prot
    Q496I4, Q8WTQ1
    Related
    ENSP00000322191.2, ENST00000316169.2
    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
    7470308..7475082 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    5433764..5438536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187570.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    153417..158192 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7199315..7204090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)