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DEFB112 defensin beta 112 [ Homo sapiens (human) ]

Gene ID: 245915, updated on 5-Mar-2024

Summary

Official Symbol
DEFB112provided by HGNC
Official Full Name
defensin beta 112provided by HGNC
Primary source
HGNC:HGNC:18093
See related
Ensembl:ENSG00000180872 AllianceGenome:HGNC:18093
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
DEFB-12
Summary
Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]
Orthologs
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Genomic context

See DEFB112 in Genome Data Viewer
Location:
6p12.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (50042099..50049929, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49885001..49892837, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (50009812..50017642, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5843 silencer Neighboring gene defensin beta 113 Neighboring gene defensin beta 110 Neighboring gene uncharacterized LOC100505985 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:50224922-50225528 Neighboring gene uncharacterized LOC124901479

Genomic regions, transcripts, and products

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 112
Names
beta-defensin 12
defensin, beta 12

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_001369057.2NP_001355986.1  beta-defensin 112 precursor

    Status: REVIEWED

    Source sequence(s)
    AL138879
    Consensus CDS
    CCDS34476.2
    UniProtKB/TrEMBL
    A0A494C1K0
    Related
    ENSP00000499066.1, ENST00000651554.2

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    50042099..50049929 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    49885001..49892837 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001037498.1: Suppressed sequence

    Description
    NM_001037498.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.