IL17B

interleukin 17B, the group of Interleukins

Basic information

Region (hg38): 5:149371324-149404202

Links

ENSG00000127743 ∙ NCBI:27190 ∙ OMIM:604627 ∙ HGNC:5982 ∙ Uniprot:Q9UHF5 ∙ 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 IL17B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17B 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	1	2
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	14	1	2

Variants in IL17B

This is a list of pathogenic ClinVar variants found in the IL17B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-149374385-C-T		Keratoconus 1	Uncertain significance (Apr 21, 2016)
5-149374421-C-T		not specified	Uncertain significance (Oct 06, 2024)
5-149374436-C-T		not specified	Uncertain significance (Sep 01, 2021)
5-149374442-G-A		not specified	Uncertain significance (May 15, 2023)
5-149374443-G-A		not specified	Uncertain significance (Apr 28, 2022)
5-149374458-G-A		not specified	Uncertain significance (May 23, 2023)
5-149374463-C-T		not specified	Uncertain significance (Aug 04, 2024)
5-149374486-C-T			Benign (Dec 31, 2019)
5-149374487-G-A		not specified	Uncertain significance (Apr 09, 2024)
5-149374496-A-G		not specified	Uncertain significance (Jul 21, 2021)
5-149374499-A-G		not specified	Uncertain significance (Jan 31, 2022)
5-149374516-C-G		not specified	Uncertain significance (Jun 16, 2023)
5-149374579-A-C			Likely benign (May 23, 2018)
5-149374580-C-T		not specified	Uncertain significance (May 17, 2023)
5-149374590-C-T		not specified	Uncertain significance (Jul 14, 2024)
5-149376802-C-G		not specified	Uncertain significance (Sep 10, 2024)
5-149376848-C-T		not specified	Uncertain significance (Nov 26, 2024)
5-149376866-C-T		not specified	Uncertain significance (Aug 20, 2024)
5-149376893-G-A		not specified	Uncertain significance (Nov 29, 2024)
5-149376914-C-T		not specified	Uncertain significance (Jun 29, 2023)
5-149376950-C-G		not specified	Uncertain significance (Jan 23, 2024)
5-149376950-C-T		not specified	Uncertain significance (May 16, 2023)
5-149376957-C-A		not specified	Uncertain significance (May 09, 2024)
5-149376958-T-C		not specified	Uncertain significance (Aug 12, 2022)
5-149376989-C-G		not specified	Uncertain significance (Apr 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17B	protein_coding	protein_coding	ENST00000261796	3	32879

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0336	0.834	125671	1	74	125746	0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.524	108	124	0.868	0.00000830	1176
Missense in Polyphen		47	59.528	0.78955		541
Synonymous	0.461	42	46.0	0.913	0.00000276	364
Loss of Function	1.19	3	6.19	0.484	2.64e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000245
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000157	0.000149
Middle Eastern	0.000109	0.000109
South Asian	0.00170	0.00167
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1.
• Pathway: IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);IL17 signaling pathway;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

• pRec: 0.157

Intolerance Scores

• loftool: 0.735
• rvis_EVS: -0.52
• rvis_percentile_EVS: 21.2

Haploinsufficiency Scores

• pHI: 0.0949
• hipred: N
• hipred_score: 0.231
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.976

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il17b
• Phenotype: growth/size/body region phenotype; immune system phenotype; digestive/alimentary phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: inflammatory response;immune response;cell-cell signaling;regulation of signaling receptor activity;positive regulation of cytokine production involved in inflammatory response
• Cellular component: extracellular space
• Molecular function: cytokine activity