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DEFB130A defensin beta 130A [ Homo sapiens (human) ]

Gene ID: 245940, updated on 23-Nov-2021

Summary

Official Symbol
DEFB130Aprovided by HGNC
Official Full Name
defensin beta 130Aprovided by HGNC
Primary source
HGNC:HGNC:18107
See related
Ensembl:ENSG00000232948
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
DEFB30; DEFB-30; DEFB130; DEFB130L
Summary
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DEFB130A in Genome Data Viewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (12310962..12318316, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12168471..12175825, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 12 Neighboring gene defensin beta 131D (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 254 Neighboring gene defensin beta 108E (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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CCR6 chemokine receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chemoattractant activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cell chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

Preferred Names
beta-defensin 130A
Names
beta-defensin 130
beta-defensin 30
defensin beta 130
defensin, beta 30

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_001037804.1NP_001032893.1  beta-defensin 130A precursor

    See identical proteins and their annotated locations for NP_001032893.1

    Status: REVIEWED

    Source sequence(s)
    DQ012022
    Consensus CDS
    CCDS43714.1
    UniProtKB/Swiss-Prot
    P0DP73, P0DP74
    Related
    ENSP00000382951.1, ENST00000400079.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    12310962..12318316 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    1270186..1277539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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