IL17REL

Summary

IL17REL (interleukin 17 receptor E like, HGNC:33808) is a protein-coding gene on chromosome 22q13.33, encoding Interleukin-17 receptor E-like protein (Q6ZVW7).

Predicted to enable interleukin-17 receptor activity. Predicted to be involved in cytokine-mediated signaling pathway. Predicted to be located in extracellular region.

Source: NCBI Gene 400935 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_001371417

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33808
Approved symbol	IL17REL
Name	interleukin 17 receptor E like
Location	22q13.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ41993
Ensembl gene	ENSG00000188263
Ensembl biotype	protein_coding
OMIM	613414
Entrez	400935

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000389983, ENST00000695950, ENST00000695951

RefSeq mRNA: 3 — MANE Select: NM_001371417 NM_001001694, NM_001371416, NM_001371417

CCDS: CCDS93181, CCDS93182

Canonical transcript exons

ENST00000695950 — 15 exons

Exon	Start	End
ENSE00003965589	49998137	49998309
ENSE00003965590	49998025	49998069
ENSE00003965591	49991811	49996860
ENSE00003965592	49999291	49999345
ENSE00003965593	50000478	50000592
ENSE00003965594	49999828	49999967
ENSE00003965596	49997320	49997483
ENSE00003965597	50001082	50001231
ENSE00003965598	50000754	50000863
ENSE00003965599	50012545	50012765
ENSE00003965600	49997685	49997742
ENSE00003965601	49996994	49997074
ENSE00003965602	49999431	49999502
ENSE00003965604	50008637	50008664
ENSE00003965605	50000196	50000240

Expression profiles

Bgee: expression breadth broad, 38 present calls, max score 75.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0279 / max 6.7538, expressed in 11 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194686	0.0279	11

Top tissues by expression

114 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	75.64	gold quality
vermiform appendix	UBERON:0001154	66.50	gold quality
lymph node	UBERON:0000029	63.69	gold quality
duodenum	UBERON:0002114	59.13	gold quality
tonsil	UBERON:0002372	57.91	gold quality
primary visual cortex	UBERON:0002436	54.83	gold quality
bone marrow cell	CL:0002092	54.72	gold quality
colonic epithelium	UBERON:0000397	53.33	gold quality
prefrontal cortex	UBERON:0000451	50.53	gold quality
superior frontal gyrus	UBERON:0002661	49.34	gold quality
small intestine	UBERON:0002108	48.21	gold quality
small intestine Peyer’s patch	UBERON:0003454	46.95	gold quality
sural nerve	UBERON:0015488	46.70	gold quality
frontal cortex	UBERON:0001870	45.63	gold quality
stomach	UBERON:0000945	44.94	gold quality
body of stomach	UBERON:0001161	44.76	gold quality
rectum	UBERON:0001052	44.38	gold quality
spleen	UBERON:0002106	44.15	gold quality
bone marrow	UBERON:0002371	43.55	gold quality
ventricular zone	UBERON:0003053	43.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	42.59	gold quality
gall bladder	UBERON:0002110	41.98	silver quality
hypothalamus	UBERON:0001898	41.39	gold quality
urinary bladder	UBERON:0001255	40.77	gold quality
skeletal muscle tissue	UBERON:0001134	40.51	gold quality
blood	UBERON:0000178	39.41	gold quality
cerebral cortex	UBERON:0000956	39.17	gold quality
stromal cell of endometrium	CL:0002255	38.84	gold quality
intestine	UBERON:0000160	38.66	gold quality
right frontal lobe	UBERON:0002810	38.36	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

88 targeting IL17REL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5690	99.25	67.58	1012

Literature-anchored findings (GeneRIF, showing 3)

• We performed a genome-wide association analysis of ulcerative colitis and discovered new associations in il17rel (PMID:20228798)
• Rare Il17REL Variants are associated with Familial and Sporadic Inflammatory Bowel Disease. (PMID:26480299)
• The high copy number variant in the ABCF1 gene was the strongest risk factor for gout (OR = 5.70), while a low copy number variant in the IL17REL gene was the strongest protective factor against gout (OR = 0.15) (PMID:28405828)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	il17rel	ENSDARG00000089131

Protein

Protein identifiers

Interleukin-17 receptor E-like protein — Q6ZVW7 (reviewed: Q6ZVW7)

All UniProt accessions (3): A0A8Q3WLX3, A0AAA9X3B1, Q6ZVW7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Miscellaneous. Gene prediction.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZVW7-1	1	yes
Q6ZVW7-2	2

RefSeq proteins (3): NP_001001694, NP_001358345, NP_001358346* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027841	IL-17_rcpt_C/E_N	Domain
IPR039465	IL-17_rcpt-like	Family

Pfam: PF15037

UniProt features (10 total): splice variant 4, sequence variant 2, sequence conflict 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZVW7-F1	79.91	0.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): GOBP_RESPONSE_TO_PEPTIDE, NIKOLSKY_BREAST_CANCER_22Q13_AMPLICON, chr22q13, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_INTERLEUKIN_17_RECEPTOR_ACTIVITY, GOMF_IMMUNE_RECEPTOR_ACTIVITY, GREB1_TARGET_GENES, MIR5787, MIR6797_5P, MIR1249_5P, GOMF_CYTOKINE_RECEPTOR_ACTIVITY, MIR4664_5P, ZSCAN4_TARGET_GENES, FRANCO_BLOOD_SANOFI_PASTEUR_SA_INACTIVATED_INFLUENZA_VACCINE_CORRELATED_WITH_ANTIBODY_RESPONSE_AGE_18_40YO_0DY_NEGATIVE, ANDERSON_BLOOD_CN54GP140_ADJUVANTED_WITH_GLA_AF_AGE_18_45YO_1DY_UP

GO Biological Process (1): cytokine-mediated signaling pathway (GO:0019221)

GO Molecular Function (1): interleukin-17 receptor activity (GO:0030368)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
cytokine receptor activity	1
interleukin-17 binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

348 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL17REL	IL17A	Q16552	570
IL17REL	TNFSF15	O95150	505
IL17REL	ATG16L1	Q676U5	494
IL17REL	NCF4	Q15080	492
IL17REL	CIBAR2	Q6ZTR7	490
IL17REL	NOD2	Q9HC29	468
IL17REL	ARPC2	O15144	462
IL17REL	IL18R1	Q13478	462
IL17REL	IL10RA	Q13651	455
IL17REL	MUC3A	Q02505	429
IL17REL	IL17RA	Q96F46	417
IL17REL	NRSN2	Q9GZP1	408
IL17REL	TIPE3	Q5GJ75	396
IL17REL	SPN	P16150	383
IL17REL	IL10RB	Q08334	379

IntAct

0 interactions, top by confidence:

BioGRID (1): IL17REL (Affinity Capture-RNA)

ESM2 similar proteins: A2A9Q0, A5PKD8, A9JSM3, D4A2Q0, E7ERA6, F1SAM7, F2Z333, P0CG25, Q07303, Q0IIA6, Q1RMK9, Q24JP5, Q2MJR0, Q2WF71, Q3MIP1, Q3UV16, Q3ZCQ3, Q504Y2, Q5EBM0, Q5GH56, Q5GH64, Q5GH72, Q5RJI4, Q5SZI1, Q641Q3, Q6IEE6, Q6IQX7, Q6P6N5, Q6UKI2, Q6ZMC9, Q6ZVW7, Q86UD0, Q8IUW3, Q8IZ52, Q8K064, Q8N4K4, Q8NAC3, Q8NBR0, Q8NCL9, Q8NFR9

Diamond homologs: Q6AZ51, Q6ZVW7, Q8BH06, Q8NFR9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

82 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2422 predictions. Top by Δscore:

Variant	Effect	Δscore
22:49999432:T:TA	donor_gain	1.0000
22:49999826:A:AC	donor_gain	1.0000
22:49999827:C:CC	donor_gain	1.0000
22:49999827:CT:C	donor_gain	1.0000
22:49999827:CTCG:C	donor_gain	1.0000
22:49999847:T:TA	donor_gain	1.0000
22:50000566:C:CT	acceptor_gain	1.0000
22:50008635:A:AC	donor_gain	1.0000
22:50008636:C:CC	donor_gain	1.0000
22:49997318:A:AC	donor_gain	0.9900
22:49997319:C:CC	donor_gain	0.9900
22:49997342:G:A	donor_gain	0.9900
22:49997484:C:CC	acceptor_gain	0.9900
22:49997743:C:CC	acceptor_gain	0.9900
22:49998135:A:AC	donor_gain	0.9900
22:49998136:C:CC	donor_gain	0.9900
22:49998136:CT:C	donor_gain	0.9900
22:49999341:CAGCC:C	acceptor_gain	0.9900
22:49999343:GCCC:G	acceptor_loss	0.9900
22:49999345:CCTG:C	acceptor_loss	0.9900
22:49999346:CT:C	acceptor_loss	0.9900
22:49999347:T:A	acceptor_loss	0.9900
22:49999422:T:TA	donor_gain	0.9900
22:49999422:TCC:T	donor_gain	0.9900
22:49999426:CCGA:C	donor_loss	0.9900
22:49999427:CGAC:C	donor_loss	0.9900
22:49999428:GACC:G	donor_loss	0.9900
22:49999429:ACCTC:A	donor_loss	0.9900
22:49999501:ACC:A	acceptor_loss	0.9900
22:49999503:C:CC	acceptor_gain	0.9900

AlphaMissense

3287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:49999299:A:C	F198C	0.995
22:49999340:C:A	W184C	0.991
22:49999340:C:G	W184C	0.991
22:49998242:C:A	W223C	0.990
22:49998242:C:G	W223C	0.990
22:49997705:A:C	F286C	0.987
22:49997740:G:C	F274L	0.987
22:49997740:G:T	F274L	0.987
22:49997742:A:G	F274L	0.987
22:49998284:C:A	W209C	0.987
22:49998284:C:G	W209C	0.987
22:49999298:A:C	F198L	0.986
22:49999298:A:T	F198L	0.986
22:49999300:A:G	F198L	0.986
22:49997704:G:C	F286L	0.983
22:49997704:G:T	F286L	0.983
22:49997706:A:G	F286L	0.983
22:49997741:A:C	F274C	0.983
22:49997741:A:G	F274S	0.983
22:49999871:C:G	C144S	0.981
22:49999872:A:T	C144S	0.981
22:49999870:G:C	C144W	0.979
22:49998032:C:G	C271S	0.976
22:49998033:A:T	C271S	0.976
22:49998244:A:G	W223R	0.976
22:49998244:A:T	W223R	0.976
22:49999438:C:G	C180S	0.975
22:49999439:A:T	C180S	0.975
22:49998062:T:C	Y261C	0.973
22:49999431:C:A	E182D	0.973

dbSNP variants (sampled 300 via entrez): RS1000190794 (22:49996255 G>A), RS1000240144 (22:50006668 T>C), RS1000251933 (22:49991310 C>T), RS1000283504 (22:50001329 G>A,C), RS1000432436 (22:50004183 A>G), RS1000618758 (22:49992503 C>A), RS1000961008 (22:50008919 A>G), RS1001379128 (22:49997973 C>G,T), RS1001566916 (22:49993283 G>A), RS1001626597 (22:50008780 C>A), RS1001654402 (22:50003019 G>A), RS1001750029 (22:50013300 C>G), RS1001805308 (22:50013068 G>A,T), RS1001860830 (22:49998233 G>A), RS1001882679 (22:50009133 G>A,C,T)

Disease associations

OMIM: gene MIM:613414 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000623_3	Ulcerative colitis	4.000000e-08
GCST000964_30	Ulcerative colitis	2.000000e-07
GCST002481_12	Acne (severe)	4.000000e-06
GCST004133_55	Ulcerative colitis	2.000000e-10
GCST90013406_17	Liver enzyme levels (alkaline phosphatase)	1.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
indeno(1,2,3-cd)pyrene	increases expression	1
picene	increases expression	1
licochalcone B	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Lipopolysaccharides	increases expression, affects response to substance	1
Methapyrilene	increases methylation	1
Smoke	increases expression	1
Tretinoin	affects expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.