IL22

interleukin 22, the group of Interleukins

Basic information

Region (hg38): 12:68248242-68253604

Links

ENSG00000127318 ∙ NCBI:50616 ∙ OMIM:605330 ∙ HGNC:14900 ∙ Uniprot:Q9GZX6 ∙ 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 IL22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL22 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						0
missense			11	1	1	13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	1

Variants in IL22

This is a list of pathogenic ClinVar variants found in the IL22 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-68248809-G-A		not specified	Uncertain significance (Jun 29, 2023)
12-68248852-C-T		not specified	Uncertain significance (Jan 07, 2022)
12-68248867-T-C			Benign (Mar 30, 2018)
12-68251515-T-C		not specified	Uncertain significance (Aug 10, 2021)
12-68252526-A-T		not specified	Uncertain significance (Jun 23, 2021)
12-68252542-G-A		not specified	Likely benign (Apr 13, 2022)
12-68252545-C-T		not specified	Uncertain significance (Aug 11, 2022)
12-68252638-G-A		not specified	Uncertain significance (Aug 09, 2021)
12-68252645-C-T		not specified	Uncertain significance (Oct 18, 2021)
12-68252768-A-G		not specified	Uncertain significance (Sep 26, 2023)
12-68253302-C-A		not specified	Uncertain significance (Jan 29, 2024)
12-68253354-G-T		not specified	Uncertain significance (Jun 22, 2023)
12-68253424-T-G		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL22	protein_coding	protein_coding	ENST00000538666	5	5366

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000188	0.489	125661	0	12	125673	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.177	94	99.0	0.950	0.00000503	1184
Missense in Polyphen		27	31.262	0.86368		390
Synonymous	-1.13	48	39.1	1.23	0.00000204	348
Loss of Function	0.346	6	6.99	0.859	2.96e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.0000544	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000178	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000330	0.0000327
Other	0.000168	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytokine that contributes to the inflammatory response in vivo.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Inflammatory bowel disease (IBD) - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Allograft Rejection;Development and heterogeneity of the ILC family;Signaling by Interleukins;il22 soluble receptor signaling pathway;Cytokine Signaling in Immune system;Interleukin-20 family signaling;Immune System (Consensus)

Recessive Scores

• pRec: 0.179

Intolerance Scores

• loftool: 0.297
• rvis_EVS: 0.37
• rvis_percentile_EVS: 74.95

Haploinsufficiency Scores

• pHI: 0.0845
• hipred: N
• hipred_score: 0.249

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iltifb

Zebrafish Information Network

• Gene name: il22
• Affected structure: obsolete death
• Phenotype tag: abnormal
• Phenotype quality: increased rate

Gene ontology

• Biological process: acute-phase response;inflammatory response;regulation of signaling receptor activity;cytokine-mediated signaling pathway;response to glucocorticoid
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;protein binding;interleukin-22 receptor binding