GeneBe

IL17RD

interleukin 17 receptor D, the group of Interleukin receptors|TIR domain containing

Basic information

Region (hg38): 3:57089982-57170306

Links

ENSG00000144730 ∙ NCBI:54756 ∙ OMIM:606807 ∙ HGNC:17616 ∙ Uniprot:Q8NFM7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • Kallmann syndrome (Supportive), mode of inheritance: AD
  • hypogonadotropic hypogonadism 18 with or without anosmia (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Hypogonadotropic hypogonadism 18, with or without anosmiaAD/DigenicAudiologic/Otolaryngologic; EndocrineIn Hypogonadotropic hypogonadism, surveillance in adolescence related to sexual maturation is indicated, as is monitoring of bone mineral density in order to allow early detection and treatment of disease; In order to induce and maintain secondary sex characteristics, gradually increasing doses of gonadal steroids (females: estrogen/progestin; males: testosterone/hCG) can be beneficial; Related to fertility, endocrinologic therapy (females: recombinant hCG or pulsatile GnRH therapy; males: hCG/HMG/recombinant FSH or pulsatile GnRH therapy) may be effective, though IVF may be required; Congenital hearing loss in individuals is typically (though not always) described as unilateral, and recognition and interventions related to speech and language development may be beneficialAudiologic/Otolaryngologic; Dental; Endocrine; Musculoskeletal; Neurologic23643382
Relatively complex genetic models of disease have been described (eg, involving variants in other FGF8-network-associated genes)

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL17RD gene.

  • not_provided (125 variants)
  • not_specified (117 variants)
  • IL17RD-related_disorder (21 variants)
  • Hypogonadotropic_hypogonadism_18_with_or_without_anosmia (10 variants)
  • Hypogonadotropic_hypogonadism_18_with_anosmia (3 variants)
  • Delayed_puberty (3 variants)
  • HYPOGONADOTROPIC_HYPOGONADISM_18_WITH_ANOSMIA,_SUSCEPTIBILITY_TO (2 variants)
  • Cerebral_arteriovenous_malformation (2 variants)
  • Hypogonadism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17RD gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017563.5. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
43
clinvar
2
clinvar
 45
missense
2
clinvar
2
clinvar
144
clinvar
9
clinvar
3
clinvar
 160
nonsense
1
clinvar
2
clinvar
 3
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total 2 3 149 52 5

Highest pathogenic variant AF is 0.0000402759

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IL17RDprotein_codingprotein_codingENST00000296318 1380325
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.000001050.9991255720371256090.000147
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2784154310.9620.00002644795
Missense in Polyphen108112.740.957961338
Synonymous0.01661911910.9980.00001361431
Loss of Function3.011635.30.4530.00000192406

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003050.000301
Ashkenazi Jewish0.000.00
East Asian0.00005560.0000544
Finnish0.00004710.0000462
European (Non-Finnish)0.0001980.000194
Middle Eastern0.00005560.0000544
South Asian0.0001650.000163
Other0.0001680.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity). {ECO:0000250, ECO:0000269|PubMed:12807873, ECO:0000269|PubMed:12958313, ECO:0000269|PubMed:15239952}.;
Pathway
IL17 signaling pathway;Pathways Affected in Adenoid Cystic Carcinoma;MAP2K and MAPK activation;Signal Transduction;EGFR1;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;FGF signaling pathway (Consensus)

Recessive Scores

pRec
0.124

Intolerance Scores

loftool
0.690
rvis_EVS
-0.17
rvis_percentile_EVS
40.63

Haploinsufficiency Scores

pHI
0.675
hipred
Y
hipred_score
0.619
ghis
0.492

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.242

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Il17rd
Phenotype
cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; immune system phenotype;

Zebrafish Information Network

Gene name
il17rd
Affected structure
posterior lateral line primordium
Phenotype tag
abnormal
Phenotype quality
morphology

Gene ontology

Biological process
MAPK cascade;cytokine-mediated signaling pathway
Cellular component
Golgi membrane;nucleoplasm;Golgi apparatus;plasma membrane;integral component of membrane
Molecular function
interleukin-17 receptor activity