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DEFB4B defensin beta 4B [ Homo sapiens (human) ]

Gene ID: 100289462, updated on 8-Mar-2024

Summary

Official Symbol
DEFB4Bprovided by HGNC
Official Full Name
defensin beta 4Bprovided by HGNC
Primary source
HGNC:HGNC:30193
See related
Ensembl:ENSG00000177257 AllianceGenome:HGNC:30193
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
DEFB4P
Summary
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014]
Expression
Biased expression in gall bladder (RPKM 1.0), esophagus (RPKM 0.7) and 3 other tissues See more
Orthologs
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Genomic context

See DEFB4B in Genome Data Viewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7414855..7416863, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7143841..7145853, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7272377..7274385, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 66 member B Neighboring gene ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26961 Neighboring gene zinc finger protein 705G Neighboring gene defensin beta 108C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:7251267-7252216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:7253130-7253706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:7253707-7254283 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:7259671-7260248 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:7264652-7265597 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 3 Neighboring gene defensin beta 103B

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?

General protein information

Preferred Names
beta-defensin 4B
Names
beta defensin 2
defensin, beta 4, pseudogene

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_001205266.2NP_001192195.1  beta-defensin 4B precursor

    See identical proteins and their annotated locations for NP_001192195.1

    Status: REVIEWED

    Source sequence(s)
    AC130360
    Consensus CDS
    CCDS55193.1
    UniProtKB/Swiss-Prot
    O15263, Q52LC0
    Related
    ENSP00000424598.1, ENST00000318157.3
    Conserved Domains (1) summary
    pfam00711
    Location:2862
    Defensin_beta; Beta defensin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    7414855..7416863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    5491964..5493999
    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
    97908..99936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7143841..7145853 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)