IL17RD (interleukin 17 receptor D)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54756 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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IL17RD |
SynonymsGene synonyms aliases
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HH18, IL-17RD, IL17RLM, SEF |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3p14.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
rs587776979 |
G>A |
Risk-factor |
Missense variant, coding sequence variant |
rs587776980 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs727505366 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000139 |
Component |
Golgi membrane |
TAS |
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GO:0000165 |
Process |
MAPK cascade |
TAS |
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GO:0005654 |
Component |
Nucleoplasm |
IDA |
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GO:0005794 |
Component |
Golgi apparatus |
IDA |
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GO:0005886 |
Component |
Plasma membrane |
IEA |
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GO:0010719 |
Process |
Negative regulation of epithelial to mesenchymal transition |
ISS |
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GO:0016021 |
Component |
Integral component of membrane |
IEA |
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GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
IEA |
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GO:0030368 |
Function |
Interleukin-17 receptor activity |
IBA |
21873635 |
GO:0030512 |
Process |
Negative regulation of transforming growth factor beta receptor signaling pathway |
ISS |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Adenocarcinoma |
Adenoid Cystic Carcinoma |
rs121913530, rs886039394, rs121913474 |
23685749 |
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
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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 |
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Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism |
rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 |
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Hypogonadotropic hypogonadism with or without anosmia |
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA |
rs387906271, rs121918340, rs606231136, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514, rs2146817110, rs137852515, rs2146819139, rs2146919315, rs137852516, rs387906427, rs121918124, rs121918125, rs587777758, rs104893836, rs104893837, rs28933074, rs104893838, rs104893839, rs104893840, rs104893841, rs104893842, rs104893843, rs104893844, rs797044452, rs74452732, rs104893847, rs5030646, rs5030776, rs121909666, rs121909627, rs1586111679, rs1563433902, rs121909628, rs121909629, rs1586287678, rs121909630, rs121909635, rs267606805, rs121909636, rs121909638, rs121909639, rs587776835, rs121909640, rs121909642, rs121909643, rs121909645, rs281865427, rs587777835, rs761325768, rs2104908342, rs886037634, rs397515446, rs398123024, rs398123025, rs398124651, rs398124652, rs398124653, rs398124654, rs369641068, rs145221454, rs587776980, rs587776981, rs886037637, rs398122393, rs144292455, rs397515483, rs397518425, rs398124321, rs515726220, rs515726223, rs515726224, rs515726225, rs10835638, rs606231406, rs369176613, rs606231409, rs587777739, rs587777740, rs587777864, rs587783457, rs727505375, rs727505367, rs727505377, rs727505376, rs727505370, rs727505371, rs727505373, rs727505372, rs727505374, rs764659822, rs5030777, rs794727423, rs876661334, rs876661330, rs876661329, rs886039395, rs886039881, rs886037916, rs886040962, rs1057519418, rs374623109, rs1057520209, rs1057520210, rs1060499663, rs773138384, rs1131692039, rs932845258, rs1554570706, rs1554834303, rs1555904591, rs747010865, rs1554603970, rs1555893221, rs1554564353, rs1554594114, rs1602050730, rs1584891562, rs1601946139, rs1586083500, rs1586375906, rs1601965037, rs1601988004, rs1586462917, rs760022956, rs1727077385, rs1726901153, rs1726871489 |
23643382 |
Ichthyosis |
Ichthyoses |
rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519 |
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Mirror movements |
Mirror movements disorder |
rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187 |
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Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
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Osteochondrodysplasia |
Osteochondrodysplasias |
rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061 |
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Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
16474841 |
Skeletal dysplasia |
Skeletal dysplasia |
rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Breast hypoplasia |
Congenital hypoplasia of breast |
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Dysarthria |
Dysarthria |
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Gynecomastia |
Gynecomastia |
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Hypogonadism |
Hypogonadism |
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Hypopituitarism |
Anterior hypopituitarism |
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Kallmann syndrome |
Kallmann Syndrome |
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23643382 |
Paraplegia |
Paraplegia |
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Penis agenesis |
Penis agenesis |
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Physiologic amenorrhea |
Primary physiologic amenorrhea |
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Prostatic neoplasms |
Prostatic Neoplasms |
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16474841 |
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
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Renal agenesis |
Congenital absence of kidneys syndrome |
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