IL17A

interleukin 17A, the group of Interleukins

Basic information

Region (hg38): 6:52186375-52190638

Previous symbols: [ "CTLA8", "IL17" ]

Links

ENSG00000112115

∙ NCBI:3605 ∙ OMIM:603149 ∙ HGNC:5981 ∙ Uniprot:Q16552 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL17A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1 clinvar	1
missense			11 clinvar			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					4 clinvar	4
Total	0	0	11	0	5

Variants in IL17A

This is a list of pathogenic ClinVar variants found in the IL17A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
6-52186457-T-C	not specified	Uncertain significance (Jan 16, 2024)	3109126
6-52186476-G-A	not specified	Benign (Jan 24, 2024)	1273159
6-52187660-C-G	not specified	Uncertain significance (Nov 17, 2023)	3109127
6-52187713-G-A	not specified	Uncertain significance (Dec 28, 2023)	3109124
6-52187718-A-T	not specified	Uncertain significance (May 03, 2023)	2543405
6-52187769-A-G	not specified	Uncertain significance (Mar 31, 2024)	3285756
6-52187781-G-A	not specified	Uncertain significance (Dec 17, 2023)	3109125
6-52188798-T-C		Benign (Jun 19, 2021)	1178355
6-52189060-A-G	not specified	Uncertain significance (Jun 13, 2022)	2391973
6-52189095-G-A	not specified	Uncertain significance (Sep 06, 2022)	2361732
6-52189097-G-T	not specified	Uncertain significance (Feb 15, 2023)	2485402
6-52189126-A-T	not specified	Uncertain significance (May 31, 2023)	2553500
6-52189179-A-G	not specified	Uncertain significance (Sep 17, 2021)	2251932
6-52189226-G-A		Benign (Jun 27, 2018)	771398
6-52189240-T-C	not specified	Uncertain significance (Apr 05, 2023)	2514849
6-52189451-G-A		Benign (Jun 19, 2021)	1266947
6-52190541-C-T		Benign (Feb 18, 2020)	1270340

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17A	protein_coding	protein_coding	ENST00000340057	3	4252

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0430	0.857	125702	0	18	125720	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.275	85	92.4	0.919	0.00000544	998
Missense in Polyphen		16	26.268	0.6091		285
Synonymous	-1.51	48	36.4	1.32	0.00000194	324
Loss of Function	1.35	3	6.78	0.442	4.72e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000323	0.000323
European (Non-Finnish)	0.0000618	0.0000616
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Ligand for IL17RA and IL17RC (PubMed:17911633). The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC (PubMed:18684971). Involved in inducing stromal cells to produce proinflammatory and hematopoietic cytokines (PubMed:8676080). {ECO:0000269|PubMed:17911633, ECO:0000269|PubMed:18684971, ECO:0000269|PubMed:8676080}.;
Pathway: Inflammatory bowel disease (IBD) - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);IL17 signaling pathway;Allograft Rejection;Development and heterogeneity of the ILC family;Interleukin-4 and 13 signaling;T-Cell antigen Receptor (TCR) Signaling Pathway;JAK STAT MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;JAK STAT pathway and regulation;GPCR signaling-G alpha i;IL23-mediated signaling events;IL27-mediated signaling events (Consensus)

Recessive Scores

pRec: 0.740

Intolerance Scores

loftool: 0.309
rvis_EVS: -0.19
rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

pHI: 0.141
hipred: N
hipred_score: 0.112
ghis: 0.478

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.514

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Il17a
Phenotype: digestive/alimentary phenotype; renal/urinary system phenotype; skeleton phenotype; immune system phenotype; respiratory system phenotype; hematopoietic system phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); craniofacial phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype;

Gene ontology

Biological process: apoptotic process;inflammatory response;immune response;cell-cell signaling;cell death;regulation of signaling receptor activity;cytokine-mediated signaling pathway;positive regulation of interleukin-23 production;positive regulation of osteoclast differentiation;positive regulation of transcription by RNA polymerase II;fibroblast activation;interleukin-17-mediated signaling pathway
Cellular component: extracellular region;extracellular space
Molecular function: cytokine activity;protein binding