Human Gene IL17RD (ENST00000296318.12_7) from GENCODE V47lift37
  Description: interleukin 17 receptor D, transcript variant 2 (from RefSeq NM_017563.5)
Gencode Transcript: ENST00000296318.12_7
Gencode Gene: ENSG00000144730.19_9
Transcript (Including UTRs)
   Position: hg19 chr3:57,124,010-57,199,381 Size: 75,372 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr3:57,130,421-57,199,314 Size: 68,894 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:57,124,010-57,199,381)mRNA (may differ from genome)Protein (739 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: I17RD_HUMAN
DESCRIPTION: RecName: Full=Interleukin-17 receptor D; Short=IL-17 receptor D; Short=IL-17RD; AltName: Full=IL17Rhom; AltName: Full=Interleukin-17 receptor-like protein; AltName: Full=Sef homolog; Short=hSef; Flags: Precursor;
FUNCTION: Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis (By similarity).
SUBUNIT: Interacts with MAP3K7 (By similarity). Self-associates. Interacts with FGFR1, FGFR2 and phosphorylated MAP2K1 or MAP2K2. Associates with a MAP2K1/2-MAPK1/3 complex.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type I membrane protein. Cell membrane; Single-pass type I membrane protein. Note=Predominantly associated with the Golgi apparatus and is partially translocated to the plasma membrane upon stimulation.
SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.
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 vesicles and the collecting tubules of the kidney. Isoform 1 is also highly expressed in both fetal and adult brain, pituitary, tonsils, spleen, adenoids, fetal kidney, liver, testes and ovary. Isoform 1 is also expressed at moderate levels in primary aortic endothelial cells and adrenal medulla, and at low levels in adrenal cortex. Isoform 4 is specifically and highly expressed in pituitary, fetal brain and umbilical vein endothelial cells.
SIMILARITY: Contains 1 SEFIR domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IL17RD
Diseases sorted by gene-association score: hypogonadotropic hypogonadism 18 with or without anosmia* (831), kallmann syndrome* (83)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.92 RPKM in Uterus
Total median expression: 92.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.5067-0.485 Picture PostScript Text
3' UTR -2120.306411-0.331 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013568 - SEFIR

Pfam Domains:
PF08357 - SEFIR domain
PF16742 - N-terminus of interleukin 17 receptor D

SCOP Domains:
49265 - Fibronectin type III
52200 - Toll/Interleukin receptor TIR domain

ModBase Predicted Comparative 3D Structure on Q8NFM7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030368 interleukin-17 receptor activity

Biological Process:
GO:0000165 MAPK cascade
GO:0019221 cytokine-mediated signaling pathway

Cellular Component:
GO:0000139 Golgi membrane
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF494208 - Homo sapiens interleukin 17 receptor-like protein long form (IL17RLM) mRNA, complete cds; alternatively spliced.
AF494211 - Homo sapiens interleukin 17 receptor-like protein short form (IL17RLM) mRNA, complete cds; alternatively spliced.
BC038369 - Homo sapiens interleukin 17 receptor D, mRNA (cDNA clone IMAGE:4830807).
BC111702 - Homo sapiens interleukin 17 receptor D, mRNA (cDNA clone MGC:133309 IMAGE:40038598), complete cds.
AK093074 - Homo sapiens cDNA FLJ35755 fis, clone TESTI2004654.
AX747904 - Sequence 1429 from Patent EP1308459.
AF458067 - Homo sapiens IL-17RD mRNA, complete cds.
AL833913 - Homo sapiens mRNA; cDNA DKFZp434L0320 (from clone DKFZp434L0320).
AY358774 - Homo sapiens clone DNA154095 IL17Rhom (UNQ6115) mRNA, complete cds.
AY489047 - Homo sapiens SEF splice variant b mRNA, complete cds, alternatively spliced.
AK302045 - Homo sapiens cDNA FLJ50280 complete cds, highly similar to Interleukin-17 receptor D precursor.
AK092579 - Homo sapiens cDNA FLJ35260 fis, clone PROST2004258.
AK125591 - Homo sapiens cDNA FLJ43603 fis, clone SPLEN2005767.
JD079526 - Sequence 60550 from Patent EP1572962.
JD047622 - Sequence 28646 from Patent EP1572962.
JD238374 - Sequence 219398 from Patent EP1572962.
JD135801 - Sequence 116825 from Patent EP1572962.
JD473853 - Sequence 454877 from Patent EP1572962.
AL133097 - Homo sapiens mRNA; cDNA DKFZp434N1928 (from clone DKFZp434N1928).
AK001251 - Homo sapiens cDNA FLJ10389 fis, clone NT2RM4000061.
JD324269 - Sequence 305293 from Patent EP1572962.
JD113030 - Sequence 94054 from Patent EP1572962.
JD210216 - Sequence 191240 from Patent EP1572962.
JD454781 - Sequence 435805 from Patent EP1572962.
JD475639 - Sequence 456663 from Patent EP1572962.
JD044810 - Sequence 25834 from Patent EP1572962.
JD174518 - Sequence 155542 from Patent EP1572962.
JD442077 - Sequence 423101 from Patent EP1572962.
JD465386 - Sequence 446410 from Patent EP1572962.
JD200687 - Sequence 181711 from Patent EP1572962.
JD298843 - Sequence 279867 from Patent EP1572962.
JD526745 - Sequence 507769 from Patent EP1572962.
JD372367 - Sequence 353391 from Patent EP1572962.
JD367865 - Sequence 348889 from Patent EP1572962.
JD303910 - Sequence 284934 from Patent EP1572962.
JD362383 - Sequence 343407 from Patent EP1572962.
JD421392 - Sequence 402416 from Patent EP1572962.
JD370930 - Sequence 351954 from Patent EP1572962.
JD248656 - Sequence 229680 from Patent EP1572962.
JD126279 - Sequence 107303 from Patent EP1572962.
JD323677 - Sequence 304701 from Patent EP1572962.
JD290112 - Sequence 271136 from Patent EP1572962.
JD467186 - Sequence 448210 from Patent EP1572962.
JD273209 - Sequence 254233 from Patent EP1572962.
JD454224 - Sequence 435248 from Patent EP1572962.
JD504975 - Sequence 485999 from Patent EP1572962.
JD227154 - Sequence 208178 from Patent EP1572962.
JD477722 - Sequence 458746 from Patent EP1572962.
JD227985 - Sequence 209009 from Patent EP1572962.
JD117805 - Sequence 98829 from Patent EP1572962.
DQ594383 - Homo sapiens piRNA piR-60495, complete sequence.
JD485526 - Sequence 466550 from Patent EP1572962.
JD262283 - Sequence 243307 from Patent EP1572962.
JD154202 - Sequence 135226 from Patent EP1572962.
JD050256 - Sequence 31280 from Patent EP1572962.
JD091878 - Sequence 72902 from Patent EP1572962.
JD078882 - Sequence 59906 from Patent EP1572962.
JD410920 - Sequence 391944 from Patent EP1572962.
JD083794 - Sequence 64818 from Patent EP1572962.
JD235049 - Sequence 216073 from Patent EP1572962.
JD094536 - Sequence 75560 from Patent EP1572962.
JD208364 - Sequence 189388 from Patent EP1572962.
JD325587 - Sequence 306611 from Patent EP1572962.
JD166154 - Sequence 147178 from Patent EP1572962.
JD371406 - Sequence 352430 from Patent EP1572962.
JD123738 - Sequence 104762 from Patent EP1572962.
JD292972 - Sequence 273996 from Patent EP1572962.
KJ902681 - Synthetic construct Homo sapiens clone ccsbBroadEn_12075 IL17RD gene, encodes complete protein.
DQ581899 - Homo sapiens piRNA piR-50011, complete sequence.
JD354869 - Sequence 335893 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NFM7 (Reactome details) participates in the following event(s):

R-HSA-5674366 IL17RD binds p-2S MAP2Ks and MAPKs
R-HSA-5674373 MAP2Ks phosphorylate MAPK at the Golgi membrane
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000296318.1, ENST00000296318.10, ENST00000296318.11, ENST00000296318.2, ENST00000296318.3, ENST00000296318.4, ENST00000296318.5, ENST00000296318.6, ENST00000296318.7, ENST00000296318.8, ENST00000296318.9, I17RD_HUMAN, IL17RLM, NM_017563, Q2NKP7, Q58EZ7, Q6RVF4, Q6UWI5, Q8N113, Q8NFM7, Q8NFS0, Q9UFA0, SEF, uc317lsq.1, uc317lsq.2, UNQ6115/PRO20026
UCSC ID: ENST00000296318.12_7
RefSeq Accession: NM_017563.5
Protein: Q8NFM7 (aka I17RD_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene IL17RD:
kms (Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.