IL17B

protein-coding

interleukin 17B, the group of Interleukins

Gene summary

The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. Alternative splicing results in multiple splice variants. [provided by RefSeq, Dec 2015]

MANE transcript

NM_014443.3

Inheritance

—

ClinVar variants

U:40B:4

Top phenotype

Keratoconus 1

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr5:149,371,324-149,404,202

External References & Databases

Ensembl (ENSG00000127743)

Transcript & Mutation Effects

hg38 • Region Span ~32.9 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 IL17B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 39

not providedTotal: 3

Keratoconus 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014443.3. 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	2 clinvar	1 clinvar	5
missense			38 clinvar	1 clinvar		39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	3	1	44

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014443.3	RefSeq	NP_055258.1	3	MANE Select
ENST00000261796.4	Ensembl	ENSP00000261796.3	3	MANE Select
NM_001317987.2	RefSeq	NP_001304916.1	2	Standard
ENST00001137736.1	Ensembl	ENSP00000803201.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

inflammatory response
immune response
cell-cell signaling
regulation of signaling receptor activity
positive regulation of cytokine production involved in inflammatory response

Molecular Function

cytokine activity

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261796
Coding exons: 3
Length: 32879
Individuals with no LoFs: 125671
Homozygous LoFs: 1
Heterozygous LoFs: 74
Defined: 125746
p: 0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.524	108	124	0.868	0.00000830	1176
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00015	rare
South Asian	0.0017	0.0017	notable
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1.;

Recessive Scores

pRec: 0.157

Intolerance Scores

LoFtool: 0.735
RVIS EVS: -0.52
RVIS percentile EVS: 21.2

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.976

Gene Damage Prediction

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