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IL17RD (interleukin 17 receptor D)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54756
Gene nameGene Name - the full gene name approved by the HGNC.
Interleukin 17 receptor D
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
IL17RD
SynonymsGene synonyms aliases
HH18, IL-17RD, IL17RLM, SEF
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWRGVGPASRNSGLYNITFKY
DNCTTYLNPVGKHVIADAQNITISQYACHDQVAVTILWSPGALGIEFLKGFRVILEELKS
EGRQCQQLILKDPKQLNSSFKRTGMESQPFLNMKFETDYFVKVVPFPSI
KNESNYHPFFF
RTRACDLLLQPDNLACKPFWKPRNLNISQHGSDMQVSFDHAPHNFGFRFFYLHYKLKHEG
PFKRKTCKQEQTTETTSCLLQNVSPGDYIIELVDDTNTTRKVMHYALKPVHSPWAGPIRA
VAITVPLVVISAFATLFTVMCRKKQQENIYSHLDEESSESSTYTAALPRERLRPRPKVFL
CYSSKDGQNHMNVVQCFAYFLQDFCGCEVALDLWEDFSLCREGQREWVIQKIHESQFIIV
VCSKGMKYFVDKKNYKHKGGGRGSGKGELFLVAVSAIAEKLRQAKQSSSAALSKFIAVYF
DYSCEGDVPGILDLSTKYRLMDNLPQLCSHL
HSRDHGLQEPGQHTRQGSRRNYFRSKSGR
SLYVAICNMHQFIDEEPDWFEKQFVPFHPPPLRYREPVLEKFDSGLVLNDVMCKPGPESD
FCLKVEAAVLGATGPADSQHESQHGGLDQDGEARPALDGSAALQPLLHTVKAGSPSDMPR
DSGIYDSSVPSSELSLPLMEGLSTDQTETSSLTESVSSSSGLGEEEPPALPSKLLSSGSC
KADLGCRSYTDELHAVAPL
Sequence length 739
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    MAP2K and MAPK activation
Associated diseases
Causal
Disease name Disease term 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, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Unknown
Disease name Disease term dbSNP ID References
Breast hypoplasia Congenital hypoplasia of breast
Dysarthria Dysarthria
Gynecomastia Gynecomastia
Hypogonadism Hypogonadism

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