Gene Gene information from NCBI Gene database.
Entrez ID 54756
Gene name Interleukin 17 receptor D
Gene symbol IL17RD
Synonyms (NCBI Gene)
HH18IL-17RDIL17RLMSEF
Chromosome 3
Chromosome location 3p14.3
Summary 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 requir
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs145221454 G>A,C Pathogenic Coding sequence variant, missense variant
rs184758350 T>G Uncertain-significance, likely-pathogenic, pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs200088377 G>A Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
rs369641068 T>C Risk-factor Coding sequence variant, missense variant
rs577890523 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
521
miRTarBase ID miRNA Experiments Reference
MIRT016839 hsa-miR-335-5p Microarray 18185580
MIRT041267 hsa-miR-193b-3p CLASH 23622248
MIRT1063939 hsa-miR-1224-3p CLIP-seq
MIRT1063940 hsa-miR-1228 CLIP-seq
MIRT1063941 hsa-miR-124 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 33961781, 34819669
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606807 17616 ENSG00000144730
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFM7
Protein name Interleukin-17 receptor D (IL-17 receptor D) (IL-17RD) (IL17Rhom) (Interleukin-17 receptor-like protein) (Sef homolog) (hSef)
Protein function Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation (PubMed:12807873, PubMed:12958313). Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without in
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16742 IL17R_D_N 48 169 N-terminus of interleukin 17 receptor D Family
PF08357 SEFIR 356 511 SEFIR domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in umbilical vein endothelial cells and in several highly vascularized tissues such as kidney, colon, skeletal muscle, heart and small intestine. Highly expressed in ductal epithelial cells of salivary glands, seminal vesicle
Sequence
MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWRGVGPASRNSGLYNITFKY
DNCTTYLNPVGKHVIADAQNITISQYACHDQVAVTILWSPGALGIEFLKGFRVILEELKS
EGRQCQQLILKDPKQLNSSFKRTGMESQPFLNMKFETDYFVKVVPFPSI
KNESNYHPFFF
RTRACDLLLQPDNLACKPFWKPRNLNISQHGSDMQVSFDHAPHNFGFRFFYLHYKLKHEG
PFKRKTCKQEQTTETTSCLLQNVSPGDYIIELVDDTNTTRKVMHYALKPVHSPWAGPIRA
VAITVPLVVISAFATLFTVMCRKKQQENIYSHLDEESSESSTYTAALPRERLRPRPKVFL
CYSSKDGQNHMNVVQCFAYFLQDFCGCEVALDLWEDFSLCREGQREWVIQKIHESQFIIV
VCSKGMKYFVDKKNYKHKGGGRGSGKGELFLVAVSAIAEKLRQAKQSSSAALSKFIAVYF
DYSCEGDVPGILDLSTKYRLMDNLPQLCSHL
HSRDHGLQEPGQHTRQGSRRNYFRSKSGR
SLYVAICNMHQFIDEEPDWFEKQFVPFHPPPLRYREPVLEKFDSGLVLNDVMCKPGPESD
FCLKVEAAVLGATGPADSQHESQHGGLDQDGEARPALDGSAALQPLLHTVKAGSPSDMPR
DSGIYDSSVPSSELSLPLMEGLSTDQTETSSLTESVSSSSGLGEEEPPALPSKLLSSGSC
KADLGCRSYTDELHAVAPL
Sequence length 739
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MAP2K and MAPK activation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebral arteriovenous malformation Likely pathogenic rs577890523 RCV000656332
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed puberty Likely pathogenic rs727505366 RCV000156944
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 18 with anosmia Pathogenic rs145221454, rs587776980 RCV000043612
RCV000043613
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 24312262
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 28056105
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 37926850 Associate
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 33671013 Associate
★☆☆☆☆
Found in Text Mining only
Cartilage-hair hypoplasia Cartilage-Hair Hypoplasia BEFREE 23643382
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30407674
★☆☆☆☆
Found in Text Mining only
Combined Pituitary Hormone Deficiency Combined pituitary hormone deficiency Pubtator 35805171 Associate
★☆☆☆☆
Found in Text Mining only