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DEFB130B defensin beta 130B [ Homo sapiens (human) ]

Gene ID: 100133267, updated on 8-Mar-2024

Summary

Official Symbol
DEFB130Bprovided by HGNC
Official Full Name
defensin beta 130Bprovided by HGNC
Primary source
HGNC:HGNC:39814
See related
Ensembl:ENSG00000233050 AllianceGenome:HGNC:39814
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide; cytolysis by host of symbiont cells; and defense response to protozoan. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DEFB130B 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 (12064389..12071747, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7662435..7669789)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11921898..11929256, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379245 Neighboring gene olfactory receptor family 7 subfamily E member 160 pseudogene Neighboring gene defensin beta 131E (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11871185-11871846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11873134-11873664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11879796-11880328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11888763-11889262 Neighboring gene uncharacterized LOC105379246 Neighboring gene defensin beta 131C (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11946257-11946756 Neighboring gene RNA, 5S ribosomal pseudogene 253 Neighboring gene zinc finger protein 705D Neighboring gene defensin beta 108D (pseudogene)

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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CCR6 chemokine receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables chemoattractant activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in cell chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
beta-defensin 130B
Names
beta-defensin 130-like
defensin, beta 130-like

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_001195257.1NP_001182186.1  beta-defensin 130B precursor

    See identical proteins and their annotated locations for NP_001182186.1

    Status: VALIDATED

    Source sequence(s)
    AC130366
    Consensus CDS
    CCDS56524.1
    UniProtKB/Swiss-Prot
    P0DP73, P0DP74, Q30KQ2
    Related
    ENSP00000392568.1, ENST00000437818.1

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
    12064389..12071747 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7662435..7669789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)