IL17D

protein-coding

interleukin 17D, the group of Interleukins

Gene summary

The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001385224.1

Inheritance

—

ClinVar variants

U:38B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr13:20,702,127-20,723,098

External References & Databases

Ensembl (ENSG00000172458)

Transcript & Mutation Effects

hg38 • Region Span ~21.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to IL17D variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 39

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001385224.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	1 clinvar	3
missense			38 clinvar	1 clinvar	1 clinvar	40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	3	2	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001385224.1	RefSeq	NP_001372153.1	2	MANE Select
ENST00000682841.1	Ensembl	ENSP00000508385.1	2	MANE Select
NM_001385221.1	RefSeq	NP_001372150.1	3	Standard
NM_001385222.1	RefSeq	NP_001372151.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Jak-STAT signaling pathway - Homo sapiens (human)
C-type lectin receptor signaling pathway - Homo sapiens (human)
Th17 cell differentiation - Homo sapiens (human)
IL-17 signaling pathway - Homo sapiens (human)
Cytokine-cytokine receptor interaction - Homo sapiens (human)

Biological Process

inflammatory response
regulation of signaling receptor activity
positive regulation of granulocyte macrophage colony-stimulating factor production
positive regulation of interleukin-6 production
positive regulation of interleukin-8 production

Molecular Function

cytokine activity
protein homodimerization activity
receptor ligand activity

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000304920
Coding exons: 2
Length: 20972
Individuals with no LoFs: 123593
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 123604
p: 0.0000445

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.261	80	73.7	1.09	0.00000338	1243
Missense (PolyPhen)		39	30.477	1.2796		395
Synonymous	-0.556	40	35.8	1.12	0.00000177	469
Loss of Function	0.976	1	2.74	0.364	1.17e-7	50

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000055	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000056	0.000054	rare
South Asian	0	0.0	absent
Other	0.00034	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Induces expression of IL6, CXCL8/IL8, and CSF2/GM-CSF from endothelial cells. {ECO:0000269|PubMed:12097364}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium