DEFB121 defensin beta 121 [Homo sapiens (human)] - Gene

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; 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

Location:: 20q11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (31404845..31418522, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (33129041..33142726, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (29992648..30000641, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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)

NM_001011878.3 → NP_001011878.1 beta-defensin 121 isoform 1 precursor

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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

31404845..31418522 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q5GRF9

Conserved Domains (1) summary

pfam13841
Location:10 → 39

Defensin_beta_2; Beta defensin