Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54756
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 17 receptor D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL17RD
Synonyms (NCBI Gene) Gene synonyms aliases
HH18, IL-17RD, IL17RLM, SEF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HH18
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000165 Process MAPK cascade TAS
GO:0005654 Component Nucleoplasm IDA
GO:0005794 Component Golgi apparatus IDA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606807 17616 ENSG00000144730
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 23685749
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Kallmann Syndrome Kallmann syndrome GenCC
Hypogonadotropic Hypogonadism With Or Without Anosmia hypogonadotropic hypogonadism 18 with or without anosmia GenCC
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 37926850
Carcinoma Squamous Cell Associate 33671013
Combined Pituitary Hormone Deficiency Associate 35805171
Cystic Fibrosis Associate 39837005
Diabetes Mellitus Type 1 Associate 22344559
Hemochromatosis Associate 40508017
Hypogonadism Associate 33270637, 35669683, 35805171, 37108593, 38096238, 40508017
Intellectual Disability Associate 39586343
Kallmann Syndrome Associate 37108593
Neoplasm Metastasis Associate 31002136, 35761256