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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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    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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