DCD dermcidin [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCDprovided by HGNC
Official Full Name: dermcidinprovided by HGNC
Primary source: HGNC:HGNC:14669
See related: Ensembl:ENSG00000161634 MIM:606634; AllianceGenome:HGNC:14669
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: PIF; AIDD; DSEP; HCAP; DCD-1
Summary: This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 12q13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (54644589..54648365, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (54611207..54614982, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (55038373..55042149, complement)

Chromosome 12 - NC_000012.12 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?

Cell surface GRP78 and Dermcidin cooperate to regulate breast cancer cell migration through Wnt signaling.
Title: Cell surface GRP78 and Dermcidin cooperate to regulate breast cancer cell migration through Wnt signaling.
Exhaled breath condensate analysis suggests that dermcidin and S100A9 may serve as biomarkers for lung cancer diagnosis or prognosis.
Title: Mass Spectrometry Analysis of the Exhaled Breath Condensate and Proposal of Dermcidin and S100A9 as Possible Markers for Lung Cancer Prognosis.
the stress-induced DCN-2 production in AIHD propagates the inflammatory response. Steroid molecule like estriol plays a protective role by reducing DCN-2 responses in the NO synthesis.
Title: Estriol Inhibits Dermcidin Isoform-2 Induced Inflammatory Cytokine Expression Via Nitric Oxide Synthesis in Human Neutrophil.
in this paper we have showed that evolutionary new genes DCD1(Dermicidin), LINC00309 and CLLU1 have tumor-specific expression profile
Title: [Study of tumor-specific expression of some evolutionary new genes].
the present study suggests that dermcidin is a novel binding protein of lncRNA STCAT3, which serves an important role in the progress and clinical outcome of gastric cancer
Title: Dermcidin as a novel binding protein of lncRNA STCAT3 and its effect on prognosis in gastric cancer.
The results of this study suggest that these biomarker DCD can serve as a potential non-invasive early diagnosis platform reflecting PiB-PET imaging for Mild Cognitive Impairment and Alzheimer's Disease.
Title: PiB-PET Imaging-Based Serum Proteome Profiles Predict Mild Cognitive Impairment and Alzheimer's Disease.
this study shows that PIF regulates systemic immunity and targets protective regulatory and cytoskeleton proteins
Title: PreImplantation factor (PIF*) regulates systemic immunity and targets protective regulatory and cytoskeleton proteins.
This is the first report of the presence of DCD in nasal mucosa and demonstration of DCD in clinical samples of human nasal secretions at clinically relevant concentrations, which may represent a novel arm of sinonasal airway innate defense.
Title: Expression of dermcidin in human sinonasal secretions.
Identification of dermcidin in human sebaceous gland cells supports the concept that sebocytes play an important role in the innate immunity of the skin through the expression of antimicrobial peptides and specific lipids.
Title: Expression of dermcidin in sebocytes supports a role for sebum in the constitutive innate defense of human skin.
Reduced DCD concentration in sweat in patients with inflammatory acne may permit proliferation of P. acnes in pilosebaceous units, resulting in progression of inflammatory acne.
Title: Reduced expression of dermcidin, a peptide active against propionibacterium acnes, in sweat of patients with acne vulgaris.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 RNA binding	HDA more info	PubMed
enables lipid binding	EXP Inferred from Experiment more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monoatomic anion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-negative bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-positive bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to fungus	IEA Inferred from Electronic Annotation more info
involved_in defense response to fungus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in killing by host of symbiont cells	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extrinsic component of membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dermcidin

Names: diffusible survival/evasion peptide; preproteolysin; proteolysis inducing factor; survival promoting peptide

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_001300854.2 → NP_001287783.1 dermcidin isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001287783.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AC079310, EF503689

Consensus CDS

CCDS73478.1

UniProtKB/Swiss-Prot

P81605

Related

ENSP00000406773.2, ENST00000456047.2

Conserved Domains (1) summary

pfam15291
Location:19 → 118

Dermcidin; Dermcidin, antibiotic peptide
NM_053283.4 → NP_444513.1 dermcidin isoform 1 preproprotein

See identical proteins and their annotated locations for NP_444513.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate exon in the 3' coding region, resulting in a frameshift compared to variant 2. The encoded isoform (1) has a distinct C-terminus , and is shorter, compared to isoform 2.

Source sequence(s)

AC079310, EF503687

Consensus CDS

CCDS8884.1

UniProtKB/Swiss-Prot

A5JHP2, A5JHP3, P58461, P81605, Q53YJ2

Related

ENSP00000293371.6, ENST00000293371.11

Conserved Domains (1) summary

pfam15291
Location:19 → 97

Dermcidin; antibiotic peptide