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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
    NEW
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    Genomic context

    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)

    NEW Try the new Transcript table

    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)