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DEFB121 defensin beta 121 [ Homo sapiens (human) ]

Gene ID: 245934, updated on 11-Apr-2024

Summary

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Official Symbol
DEFB121provided by HGNC
Official Full Name
defensin beta 121provided by HGNC
Primary source
HGNC:HGNC:18101
See related
Ensembl:ENSG00000204548 MIM:616075; AllianceGenome:HGNC:18101
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
DEFB21; ESC42RELC
Summary
This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Expression
Restricted expression toward testis (RPKM 1.3) See more
Orthologs
all
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Genomic context

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Location:
20q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31404845..31418522, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33129041..33142726, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (29992648..30000641, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA40 Neighboring gene defensin beta 119 Neighboring gene defensin beta 122 (pseudogene) Neighboring gene defensin beta 123

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. Identification, characterization, and evolution of a primate beta-defensin gene cluster. Radhakrishnan Y, et al. Genes Immun, 2005 May. PMID 15772680, Free PMC Article
  2. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. Schutte BC, et al. Proc Natl Acad Sci U S A, 2002 Feb 19. PMID 11854508, Free PMC Article
  3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This gene is thought to encode a peptide that displays antimicrobial activity.
    Title: Identification, characterization, and evolution of a primate beta-defensin gene cluster.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in defense response to Gram-negative 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 121
Names
beta-defensin 21
defensin, beta 21
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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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_001011878.3 → NP_001011878.1  beta-defensin 121 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001011878.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AI476463, BC130609
    Consensus CDS
    CCDS33456.1
    UniProtKB/Swiss-Prot
    A1L4N1, Q5J5C9
    UniProtKB/TrEMBL
    A0A384MDM0
    Related
    ENSP00000417128.1, ENST00000376314.3
    Conserved Domains (1) summary
    pfam13841
    Location:22 → 51
    Defensin_beta_2; Beta defensin

  2. NM_001171832.2 → NP_001165303.1  beta-defensin 121 isoform 2

    See identical proteins and their annotated locations for NP_001165303.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI476463
    UniProtKB/TrEMBL
    Q5GRF9
    Related
    ENST00000376312.3
    Conserved Domains (1) summary
    pfam13841
    Location:10 → 39
    Defensin_beta_2; 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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    31404845..31418522 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260383.3 → XP_005260440.1  beta-defensin 121 isoform X1

    See identical proteins and their annotated locations for XP_005260440.1

    UniProtKB/TrEMBL
    Q5GRF9
    Conserved Domains (1) summary
    pfam13841
    Location:10 → 39
    Defensin_beta_2; Beta defensin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33129041..33142726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323310.1 → XP_054179285.1  beta-defensin 121 isoform X1

    UniProtKB/TrEMBL
    Q5GRF9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5J5C9.1 GenPept UniProtKB/Swiss-Prot:Q5J5C9

Gene LinkOut

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

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