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Interleukin-17 receptor D (IL-17 receptor D) (IL-17RD) (IL17Rhom) (Interleukin-17 receptor-like protein) (Sef homolog) (hSef)

 I17RD_HUMAN             Reviewed;         739 AA.
Q8NFM7; Q2NKP7; Q58EZ7; Q6RVF4; Q6UWI5; Q8N113; Q8NFS0; Q9UFA0;
13-SEP-2005, integrated into UniProtKB/Swiss-Prot.
20-FEB-2007, sequence version 3.
20-JUN-2018, entry version 130.
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;
Name=IL17RD; Synonyms=IL17RLM, SEF; ORFNames=UNQ6115/PRO20026;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT MET-255,
FUNCTION, AND INTERACTION WITH FGFR1 AND FGFR2.
PubMed=12958313; DOI=10.1074/jbc.M306936200;
Xiong S.Q., Zhao Q.H., Rong Z., Huang G.R., Huang Y., Chen P.L.,
Zhang S., Liu L., Chang Z.J.;
"hSef inhibits PC-12 cell differentiation by interfering with Ras-
mitogen-activated protein kinase MAPK signaling.";
J. Biol. Chem. 278:50273-50282(2003).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT MET-255, AND
SUBCELLULAR LOCATION.
TISSUE=Testis;
PubMed=14742870; DOI=10.1073/pnas.0307952100;
Preger E., Ziv I., Shabtay A., Sher I., Tsang M., Dawid I.B.,
Altuvia Y., Ron D.;
"Alternative splicing generates an isoform of the human Sef gene with
altered subcellular localization and specificity.";
Proc. Natl. Acad. Sci. U.S.A. 101:1229-1234(2004).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT MET-255.
Gilbert J.M., Gorman D.M.;
"Identification of novel IL-17 related receptors.";
Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
MET-255.
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
MET-255.
TISSUE=Testis;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANT
MET-255.
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
FUNCTION, TISSUE SPECIFICITY, HOMOOLIGOMERIZATION, AND INTERACTION
WITH FGFR1.
PubMed=12807873; DOI=10.1074/jbc.M305022200;
Yang R.-B., Domingos Ng C.K., Wasserman S.M., Koemueves L.G.,
Gerritsen M.E., Topper J.N.;
"A novel interleukin-17 receptor-like protein identified in human
umbilical vein endothelial cells antagonizes basic fibroblast growth
factor-induced signaling.";
J. Biol. Chem. 278:33232-33238(2003).
[8]
FUNCTION, INTERACTION WITH MAP2K1/2, AND IDENTIFICATION IN A COMPLEX
WITH MAP2K1/2 AND MAPK1/3.
PubMed=15239952; DOI=10.1016/j.devcel.2004.05.019;
Torii S., Kusakabe M., Yamamoto T., Maekawa M., Nishida E.;
"Sef is a spatial regulator for Ras/MAP kinase signaling.";
Dev. Cell 7:33-44(2004).
[9]
VARIANTS HH18 THR-131; ARG-162; SER-306; CYS-379; LEU-468; GLN-577 AND
VAL-735, AND CHARACTERIZATION OF VARIANTS HH18 THR-131; ARG-162;
SER-306; CYS-379; LEU-468; GLN-577 AND VAL-735.
PubMed=23643382; DOI=10.1016/j.ajhg.2013.04.008;
Miraoui H., Dwyer A.A., Sykiotis G.P., Plummer L., Chung W., Feng B.,
Beenken A., Clarke J., Pers T.H., Dworzynski P., Keefe K.,
Niedziela M., Raivio T., Crowley W.F. Jr., Seminara S.B., Quinton R.,
Hughes V.A., Kumanov P., Young J., Yialamas M.A., Hall J.E.,
Van Vliet G., Chanoine J.P., Rubenstein J., Mohammadi M., Tsai P.S.,
Sidis Y., Lage K., Pitteloud N.;
"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in
individuals with congenital hypogonadotropic hypogonadism.";
Am. J. Hum. Genet. 92:725-743(2013).
-!- 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.
Might have a role in the early stages of fate specification of
GnRH-secreting neurons (By similarity). {ECO:0000250,
ECO:0000269|PubMed:12807873, ECO:0000269|PubMed:12958313,
ECO:0000269|PubMed:15239952}.
-!- 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. {ECO:0000250,
ECO:0000269|PubMed:12807873, ECO:0000269|PubMed:12958313,
ECO:0000269|PubMed:15239952}.
-!- SUBCELLULAR LOCATION: Golgi apparatus membrane
{ECO:0000269|PubMed:14742870}; Single-pass type I membrane protein
{ECO:0000269|PubMed:14742870}. Cell membrane
{ECO:0000269|PubMed:14742870}; Single-pass type I membrane protein
{ECO:0000269|PubMed:14742870}. Note=Predominantly associated with
the Golgi apparatus and is partially translocated to the plasma
membrane upon stimulation.
-!- SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1; Synonyms=hSef-a, IL17RLM-L, Long;
IsoId=Q8NFM7-1; Sequence=Displayed;
Name=2; Synonyms="IL17RLM-S, Short;
IsoId=Q8NFM7-2; Sequence=VSP_015582;
Name=3;
IsoId=Q8NFM7-3; Sequence=VSP_015583;
Name=4; Synonyms=hSef-b;
IsoId=Q8NFM7-4; Sequence=VSP_015584;
-!- 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.
{ECO:0000269|PubMed:12807873}.
-!- DISEASE: Hypogonadotropic hypogonadism 18 with or without anosmia
(HH18) [MIM:615267]: A disorder characterized by absent or
incomplete sexual maturation by the age of 18 years, in
conjunction with low levels of circulating gonadotropins and
testosterone and no other abnormalities of the hypothalamic-
pituitary axis. In some cases, it is associated with non-
reproductive phenotypes, such as anosmia, cleft palate, and
sensorineural hearing loss. Anosmia or hyposmia is related to the
absence or hypoplasia of the olfactory bulbs and tracts.
Hypogonadism is due to deficiency in gonadotropin-releasing
hormone and probably results from a failure of embryonic migration
of gonadotropin-releasing hormone-synthesizing neurons. In the
presence of anosmia, idiopathic hypogonadotropic hypogonadism is
referred to as Kallmann syndrome, whereas in the presence of a
normal sense of smell, it has been termed normosmic idiopathic
hypogonadotropic hypogonadism (nIHH).
{ECO:0000269|PubMed:23643382}. Note=The disease is caused by
mutations affecting distinct genetic loci, including the gene
represented in this entry. Some patients carrying mutations in
IL17RD also have a heterozygous mutation in another HH-associated
gene including FGFR1 and KISS1R (PubMed:23643382).
{ECO:0000269|PubMed:23643382}.
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EMBL; AF494208; AAM74077.1; -; mRNA.
EMBL; AF494211; AAM74080.1; -; mRNA.
EMBL; AY489047; AAS15051.2; -; mRNA.
EMBL; AF458067; AAM77571.1; -; mRNA.
EMBL; AY358774; AAQ89134.1; -; mRNA.
EMBL; AL133097; CAB61408.1; -; mRNA.
EMBL; AL833913; CAD38769.1; -; mRNA.
EMBL; BC111702; AAI11703.2; -; mRNA.
CCDS; CCDS2880.2; -. [Q8NFM7-1]
CCDS; CCDS82790.1; -. [Q8NFM7-2]
PIR; T42695; T42695.
RefSeq; NP_001305793.1; NM_001318864.1. [Q8NFM7-2]
RefSeq; NP_060033.3; NM_017563.4. [Q8NFM7-1]
RefSeq; XP_006713272.1; XM_006713209.3. [Q8NFM7-2]
RefSeq; XP_011532151.2; XM_011533849.2. [Q8NFM7-2]
UniGene; Hs.150725; -.
ProteinModelPortal; Q8NFM7; -.
SMR; Q8NFM7; -.
BioGrid; 120132; 7.
STRING; 9606.ENSP00000296318; -.
iPTMnet; Q8NFM7; -.
PhosphoSitePlus; Q8NFM7; -.
BioMuta; IL17RD; -.
DMDM; 126302555; -.
PaxDb; Q8NFM7; -.
PeptideAtlas; Q8NFM7; -.
PRIDE; Q8NFM7; -.
ProteomicsDB; 73324; -.
ProteomicsDB; 73325; -. [Q8NFM7-2]
ProteomicsDB; 73326; -. [Q8NFM7-3]
ProteomicsDB; 73327; -. [Q8NFM7-4]
Ensembl; ENST00000296318; ENSP00000296318; ENSG00000144730. [Q8NFM7-1]
Ensembl; ENST00000320057; ENSP00000322250; ENSG00000144730. [Q8NFM7-2]
Ensembl; ENST00000463523; ENSP00000417516; ENSG00000144730. [Q8NFM7-2]
Ensembl; ENST00000640796; ENSP00000492817; ENSG00000144730. [Q8NFM7-2]
GeneID; 54756; -.
KEGG; hsa:54756; -.
UCSC; uc003dil.3; human. [Q8NFM7-1]
CTD; 54756; -.
DisGeNET; 54756; -.
EuPathDB; HostDB:ENSG00000144730.16; -.
GeneCards; IL17RD; -.
H-InvDB; HIX0003391; -.
HGNC; HGNC:17616; IL17RD.
HPA; HPA039577; -.
HPA; HPA043550; -.
MalaCards; IL17RD; -.
MIM; 606807; gene.
MIM; 615267; phenotype.
neXtProt; NX_Q8NFM7; -.
OpenTargets; ENSG00000144730; -.
Orphanet; 478; Kallmann syndrome.
PharmGKB; PA134993407; -.
eggNOG; ENOG410IEYK; Eukaryota.
eggNOG; ENOG4110CUP; LUCA.
GeneTree; ENSGT00880000137935; -.
HOVERGEN; HBG081777; -.
InParanoid; Q8NFM7; -.
KO; K05167; -.
OMA; STKYKLM; -.
OrthoDB; EOG091G01XZ; -.
PhylomeDB; Q8NFM7; -.
TreeFam; TF329644; -.
Reactome; R-HSA-5674135; MAP2K and MAPK activation.
ChiTaRS; IL17RD; human.
GenomeRNAi; 54756; -.
PRO; PR:Q8NFM7; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000144730; -.
CleanEx; HS_IL17RD; -.
ExpressionAtlas; Q8NFM7; baseline and differential.
Genevisible; Q8NFM7; HS.
GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0030368; F:interleukin-17 receptor activity; IBA:GO_Central.
GO; GO:0000165; P:MAPK cascade; TAS:Reactome.
InterPro; IPR031951; IL17R_D_N.
InterPro; IPR013568; SEFIR_dom.
InterPro; IPR035897; Toll_tir_struct_dom_sf.
Pfam; PF16742; IL17R_D_N; 1.
Pfam; PF08357; SEFIR; 1.
SUPFAM; SSF52200; SSF52200; 1.
PROSITE; PS51534; SEFIR; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Complete proteome; Cytoplasm;
Disease mutation; Glycoprotein; Golgi apparatus;
Hypogonadotropic hypogonadism; Kallmann syndrome; Membrane;
Polymorphism; Receptor; Reference proteome; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 16 {ECO:0000255}.
CHAIN 17 739 Interleukin-17 receptor D.
/FTId=PRO_0000041871.
TOPO_DOM 17 299 Extracellular. {ECO:0000255}.
TRANSMEM 300 320 Helical. {ECO:0000255}.
TOPO_DOM 321 739 Cytoplasmic. {ECO:0000255}.
DOMAIN 355 509 SEFIR. {ECO:0000255|PROSITE-
ProRule:PRU00867}.
COMPBIAS 695 700 Poly-Ser.
CARBOHYD 19 19 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 55 55 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 62 62 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 80 80 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 137 137 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 171 171 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 206 206 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 277 277 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 144 Missing (in isoform 2).
{ECO:0000303|PubMed:12958313,
ECO:0000303|PubMed:17974005}.
/FTId=VSP_015582.
VAR_SEQ 1 42 MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGW
R -> MPRASASGVPALFVSGEQ (in isoform 3).
{ECO:0000303|PubMed:12975309}.
/FTId=VSP_015583.
VAR_SEQ 1 42 MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGW
R -> MDYRQSWPWQ (in isoform 4).
{ECO:0000303|PubMed:14742870,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_015584.
VARIANT 131 131 K -> T (in HH18; results in decreased
expression at the cell surface and
reduced activity; dbSNP:rs184758350).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069936.
VARIANT 162 162 K -> R (in HH18; results in decreased
expression at the cell surface).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069937.
VARIANT 255 255 T -> M (in dbSNP:rs6780995).
{ECO:0000269|PubMed:12958313,
ECO:0000269|PubMed:12975309,
ECO:0000269|PubMed:14742870,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:17974005,
ECO:0000269|Ref.3}.
/FTId=VAR_023478.
VARIANT 301 301 V -> M (in dbSNP:rs17057718).
/FTId=VAR_023479.
VARIANT 306 306 P -> S (in HH18; reduced activity).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069938.
VARIANT 379 379 Y -> C (in HH18; rare variant associated
with susceptibility to disease; some
patients have a second mutation in the
HH-associated gene FGFR1; reduced
activity; dbSNP:rs369641068).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069939.
VARIANT 468 468 S -> L (in HH18; reduced activity;
dbSNP:rs145221454).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069940.
VARIANT 577 577 P -> Q (in HH18; reduced activity;
dbSNP:rs587776980).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069941.
VARIANT 735 735 A -> V (in HH18; rare variant associated
with susceptibility to disease; the
patient carries a second mutation in the
HH-associated gene KISS1R; results in
decreased expression at the cell surface;
dbSNP:rs587776979).
{ECO:0000269|PubMed:23643382}.
/FTId=VAR_069942.
CONFLICT 223 223 H -> HGSDMQVSFDHAPH (in Ref. 4;
CAB61408). {ECO:0000305}.
CONFLICT 248 248 K -> E (in Ref. 1; AAM74077).
{ECO:0000305}.
SEQUENCE 739 AA; 82411 MW; 7A2B45818DBD6E44 CRC64;
MAPWLQLCSV FFTVNACLNG SQLAVAAGGS GRARGADTCG WRGVGPASRN SGLYNITFKY
DNCTTYLNPV GKHVIADAQN ITISQYACHD QVAVTILWSP GALGIEFLKG FRVILEELKS
EGRQCQQLIL KDPKQLNSSF KRTGMESQPF LNMKFETDYF VKVVPFPSIK NESNYHPFFF
RTRACDLLLQ PDNLACKPFW KPRNLNISQH GSDMQVSFDH APHNFGFRFF YLHYKLKHEG
PFKRKTCKQE QTTETTSCLL QNVSPGDYII ELVDDTNTTR KVMHYALKPV HSPWAGPIRA
VAITVPLVVI SAFATLFTVM CRKKQQENIY SHLDEESSES STYTAALPRE RLRPRPKVFL
CYSSKDGQNH MNVVQCFAYF LQDFCGCEVA LDLWEDFSLC REGQREWVIQ KIHESQFIIV
VCSKGMKYFV DKKNYKHKGG GRGSGKGELF LVAVSAIAEK LRQAKQSSSA ALSKFIAVYF
DYSCEGDVPG ILDLSTKYRL MDNLPQLCSH LHSRDHGLQE PGQHTRQGSR RNYFRSKSGR
SLYVAICNMH QFIDEEPDWF EKQFVPFHPP PLRYREPVLE KFDSGLVLND VMCKPGPESD
FCLKVEAAVL GATGPADSQH ESQHGGLDQD GEARPALDGS AALQPLLHTV KAGSPSDMPR
DSGIYDSSVP SSELSLPLME GLSTDQTETS SLTESVSSSS GLGEEEPPAL PSKLLSSGSC
KADLGCRSYT DELHAVAPL


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E0065h ELISA kit CD121 antigen-like family member A,Homo sapiens,Human,IL1R,IL1R1,IL-1R-1,IL1RA,IL-1R-alpha,IL1RT1,IL-1RT1,IL-1RT-1,Interleukin-1 receptor alpha,Interleukin-1 receptor type 1,Interleukin-1 r 96T
U0065h CLIA CD121 antigen-like family member A,Homo sapiens,Human,IL1R,IL1R1,IL-1R-1,IL1RA,IL-1R-alpha,IL1RT1,IL-1RT1,IL-1RT-1,Interleukin-1 receptor alpha,Interleukin-1 receptor type 1,Interleukin-1 recepto 96T
E0065h ELISA CD121 antigen-like family member A,Homo sapiens,Human,IL1R,IL1R1,IL-1R-1,IL1RA,IL-1R-alpha,IL1RT1,IL-1RT1,IL-1RT-1,Interleukin-1 receptor alpha,Interleukin-1 receptor type 1,Interleukin-1 recept 96T
orb82722 Human IL1 RN protein Recombinant Human Interleukin-1 Receptor Antagonist is a member of the Interleukin-1cytokine family. IL1RN inhibits the activities of Interleukin-1 alpha (IL1A) and Interleukin-1 1 mg
18-783-78379 GOAT ANTI IRAK4 (N-TERMINAL) - Interleukin-1 receptor-associated kinase 4 short form variant 4; Interleukin-1 receptor-associated kinase 4 short form variant 3; Interleukin-1 receptor-associated kinas 0.1 mg
E2006h ELISA kit CDw128b,C-X-C chemokine receptor type 2,CXCR2,CXC-R2,CXCR-2,GRO_MGSA receptor,High affinity interleukin-8 receptor B,Homo sapiens,Human,IL-8 receptor type 2,IL-8R B,IL8RB 96T
E2006h ELISA CDw128b,C-X-C chemokine receptor type 2,CXCR2,CXC-R2,CXCR-2,GRO_MGSA receptor,High affinity interleukin-8 receptor B,Homo sapiens,Human,IL-8 receptor type 2,IL-8R B,IL8RB 96T
U2006h CLIA kit CDw128b,C-X-C chemokine receptor type 2,CXCR2,CXC-R2,CXCR-2,GRO_MGSA receptor,High affinity interleukin-8 receptor B,Homo sapiens,Human,IL-8 receptor type 2,IL-8R B,IL8RB 96T


 

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