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DEFB121 defensin beta 121 [ Homo sapiens (human) ]

Gene ID: 245934, updated on 23-Nov-2021

Summary

Official Symbol
DEFB121provided by HGNC
Official Full Name
defensin beta 121provided by HGNC
Primary source
HGNC:HGNC:18101
See related
Ensembl:ENSG00000204548 MIM:616075
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
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Genomic context

See DEFB121 in Genome Data Viewer
Location:
20q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31404845..31418522, complement)
105.20201022 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 defensin beta 118 Neighboring gene defensin beta 119 Neighboring gene defensin beta 122 (pseudogene) Neighboring gene defensin beta 123

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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

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_001011878.3NP_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
    Q5J5C9
    Related
    ENSP00000417128.1, ENST00000376314.3
    Conserved Domains (1) summary
    pfam13841
    Location:2251
    Defensin_beta_2; Beta defensin
  2. NM_001171832.2NP_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:1039
    Defensin_beta_2; Beta defensin

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_000020.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005260383.3XP_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:1039
    Defensin_beta_2; Beta defensin
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