IL17RD Chromosome 3
Interleukin 17 receptor D
Upload your DNA to see your personal genotypes for variants in IL17RD.
What This Gene Does
This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Interleukin receptors|TIR domain containing"
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000144730
Associated Conditions (7)
Hypogonadotropic hypogonadism 18 with anosmia
Delayed puberty
Cerebral arteriovenous malformation
Hypogonadotropic hypogonadism
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
SUSCEPTIBILITY TO
IL17RD-related disorder
Key Variants
RS150457965
Conflicting classifications of pathogenicity
Health Risk
RS184758350
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 18 with anosmia, Delayed puberty, Hypogonadotropic hypogonadism 18 with anosmia
Health Risk
RS200088377
Conflicting classifications of pathogenicity
Delayed puberty, Cerebral arteriovenous malformation, Delayed puberty
Health Risk
RS61740622
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS764149889
Conflicting classifications of pathogenicity
Health Risk
RS577890523
Likely pathogenic
Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
Health Risk
RS727505366
Likely pathogenic
Delayed puberty, Delayed puberty
Health Risk
RS145221454
Pathogenic
Hypogonadotropic hypogonadism 18 with anosmia, Hypogonadotropic hypogonadism 18 with anosmia
Health Risk
RS587776980
Pathogenic
Hypogonadotropic hypogonadism 18 with anosmia, Hypogonadotropic hypogonadism 18 with anosmia
Health Risk
RS369641068
risk factor
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
Health Risk
RS587776979
Uncertain significance; risk factor
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO, IL17RD-related disorder
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150457965 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184758350 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 18 with anosmia, Delayed puberty, Hypogonadotropic hypogonadism 18 with anosmia |
| RS200088377 | Health Risk | Conflicting classifications of pathogenicity | Delayed puberty, Cerebral arteriovenous malformation, Delayed puberty |
| RS61740622 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS764149889 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS577890523 | Health Risk | Likely pathogenic | Cerebral arteriovenous malformation, Cerebral arteriovenous malformation |
| RS727505366 | Health Risk | Likely pathogenic | Delayed puberty, Delayed puberty |
| RS145221454 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 18 with anosmia, Hypogonadotropic hypogonadism 18 with anosmia |
| RS587776980 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 18 with anosmia, Hypogonadotropic hypogonadism 18 with anosmia |
| RS369641068 | Health Risk | risk factor | HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO, HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA |
| RS587776979 | Health Risk | Uncertain significance; risk factor | HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO, IL17RD-related disorder |