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DEFB134 defensin beta 134 [ Homo sapiens (human) ]

Gene ID: 613211, updated on 5-Mar-2024

Summary

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Official Symbol
DEFB134provided by HGNC
Official Full Name
defensin beta 134provided by HGNC
Primary source
HGNC:HGNC:32399
See related
Ensembl:ENSG00000205882 AllianceGenome:HGNC:32399
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
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
all
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Genomic context

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See DEFB134 in Genome Data Viewer
Location:
8p23.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11993174..12000752, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7739516..7747095)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11850683..11858261, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin beta 136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11843909-11844409 Neighboring gene defensin beta 135 Neighboring gene nuclear receptor binding SET domain protein 3 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 160 pseudogene Neighboring gene uncharacterized LOC105379245 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)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. Patil AA, et al. Physiol Genomics, 2005 Sep 21. PMID 16033865
  2. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The protein encoded by this gene is thought to display antimicrobial activity.
    Title: Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Homology

Clone Names

  • MGC163333, MGC163335

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in defense response to bacterium IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
beta-defensin 134
Names
beta-defensin 135

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_001302695.2 → NP_001289624.1  beta-defensin 134 precursor

    See identical proteins and their annotated locations for NP_001289624.1

    Status: REVIEWED

    Source sequence(s)
    AC107918, BG191747, BX099413, HY003097
    Consensus CDS
    CCDS34847.1
    UniProtKB/Swiss-Prot
    A1L4A4, Q4QY38
    Related
    ENSP00000371640.4, ENST00000382205.6

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
    11993174..12000752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013724.1 → XP_016869213.1  beta-defensin 134 isoform X1

    UniProtKB/Swiss-Prot
    A1L4A4, Q4QY38

  2. XM_047422075.1 → XP_047278031.1  beta-defensin 134 isoform X1

    UniProtKB/Swiss-Prot
    A1L4A4, Q4QY38
    Related
    ENSP00000435010.1, ENST00000526438.6

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    1347265..1354844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332251.1 → XP_054188226.1  beta-defensin 134 isoform X1

    UniProtKB/Swiss-Prot
    A1L4A4, Q4QY38

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7739516..7747095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360960.1 → XP_054216935.1  beta-defensin 134 isoform X1

    UniProtKB/Swiss-Prot
    A1L4A4, Q4QY38

  2. XM_054360959.1 → XP_054216934.1  beta-defensin 134 isoform X1

    UniProtKB/Swiss-Prot
    A1L4A4, Q4QY38

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001033019.1: Suppressed sequence

    Description
    NM_001033019.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4QY38.1 GenPept UniProtKB/Swiss-Prot:Q4QY38

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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