IL7R (interleukin 7 receptor)

Gene

• Entrez ID: 3575
• Gene name: Interleukin 7 receptor
• Gene symbol: IL7R
• Synonyms: CD127, CDW127, IL-7R-alpha, IL-7Ralpha, IL7RA, IL7Ralpha, ILRA, IMD104, lnc-IL7R, sIL-7R
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleuk

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893893	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs104893894	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141698985	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs147153824	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs193922640	->ATATATTTCA	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs193922641	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922642	A>C,G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922643	CG>TA	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs193922645	G>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922647	A>C	Likely-pathogenic	Stop lost, coding sequence variant, missense variant, non coding transcript variant, terminator codon variant
rs199641706	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs587778405	G>T	Not-provided, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs757797163	G>C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs766399441	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766555082	C>G,T	Pathogenic	Intron variant, coding sequence variant, stop gained, missense variant
rs777878144	G>A	Pathogenic	Splice donor variant
rs786205572	T>G	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs786205646	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs869312857	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057519759	A>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1315265916	G>A	Pathogenic	Splice acceptor variant, intron variant
rs1390410878	C>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1448018291	A>C,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs1554066684	GAAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554067182	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1561421608	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561423197	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561424886	A>G	Pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029787	hsa-miR-26b-5p	Microarray	19088304
MIRT723842	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT723841	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT723840	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723839	hsa-miR-6131	HITS-CLIP	19536157
MIRT723838	hsa-miR-3652	HITS-CLIP	19536157
MIRT723837	hsa-miR-4430	HITS-CLIP	19536157
MIRT723836	hsa-miR-4505	HITS-CLIP	19536157
MIRT723835	hsa-miR-5787	HITS-CLIP	19536157
MIRT723834	hsa-miR-3199	HITS-CLIP	19536157
MIRT723833	hsa-miR-8052	HITS-CLIP	19536157
MIRT723832	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT723831	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT723830	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT723829	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT723828	hsa-miR-4474-3p	HITS-CLIP	19536157
MIRT545078	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT545077	hsa-miR-190a-5p	PAR-CLIP	21572407
MIRT545076	hsa-miR-190b	PAR-CLIP	21572407
MIRT545075	hsa-miR-3682-3p	PAR-CLIP	21572407
MIRT545074	hsa-miR-4775	PAR-CLIP	21572407
MIRT545073	hsa-miR-3924	PAR-CLIP	21572407
MIRT723842	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT723841	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT723840	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723839	hsa-miR-6131	HITS-CLIP	19536157
MIRT723838	hsa-miR-3652	HITS-CLIP	19536157
MIRT723837	hsa-miR-4430	HITS-CLIP	19536157
MIRT723836	hsa-miR-4505	HITS-CLIP	19536157
MIRT723835	hsa-miR-5787	HITS-CLIP	19536157
MIRT723834	hsa-miR-3199	HITS-CLIP	19536157
MIRT723833	hsa-miR-8052	HITS-CLIP	19536157
MIRT723832	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT723831	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT723830	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT723829	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT723828	hsa-miR-4474-3p	HITS-CLIP	19536157
MIRT545078	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT545077	hsa-miR-190a-5p	PAR-CLIP	21572407
MIRT545076	hsa-miR-190b	PAR-CLIP	21572407
MIRT545075	hsa-miR-3682-3p	PAR-CLIP	21572407
MIRT545074	hsa-miR-4775	PAR-CLIP	21572407
MIRT545073	hsa-miR-3924	PAR-CLIP	21572407
MIRT1065258	hsa-miR-600	CLIP-seq
MIRT1065259	hsa-miR-622	CLIP-seq
MIRT1065260	hsa-miR-629	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000018	Process	Regulation of DNA recombination	TAS	9495344
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001915	Process	Negative regulation of T cell mediated cytotoxicity	IEA
GO:0003823	Function	Antigen binding	TAS	9495344
GO:0004896	Function	Cytokine receptor activity	IDA	11418668
GO:0004917	Function	Interleukin-7 receptor activity	TAS	8266077
GO:0005515	Function	Protein binding	IPI	8266077, 19141282, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	TAS	9843216
GO:0007165	Process	Signal transduction	TAS	2317865
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9843216
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	11418668
GO:0008361	Process	Regulation of cell size	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	TAS
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0038111	Process	Interleukin-7-mediated signaling pathway	TAS
GO:0042100	Process	B cell proliferation	IEA
GO:0048535	Process	Lymph node development	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0061024	Process	Membrane organization	TAS
GO:0070233	Process	Negative regulation of T cell apoptotic process	IEA
GO:1904894	Process	Positive regulation of receptor signaling pathway via STAT	IDA	11418668

Other IDs

• MIM: 146661
• HGNC: 6024
• e!Ensembl: ENSG00000168685

Protein

• UniProt ID: P16871
• Protein name: Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CDw127) (CD antigen CD127)
• Protein function: Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
• PDB: 3DI2, 3DI3, 3UP1, 5J11, 6P50, 6P67, 7OPB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18447	FN3_7	32 → 127	Fibronectin type III domain	Domain
  PF00041	fn3	130 → 218	Fibronectin type III domain	Domain

• Sequence:

  MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFE
  DPDVNITNLEFEICGALVEVKCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKK
  IDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYVKVLMHDVAYRQEKDENKWTH
  VNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
  ILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNP
  ESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPES
  FGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFS
  LQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ

• Sequence length: 459

Pathways

KEGG:

Cytokine-cytokine receptor interaction
FoxO signaling pathway
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer
Primary immunodeficiency

Reactome:

Interleukin-7 signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	29785011
Combined immunodeficiency	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive	rs121908717, rs121908714, rs121908716, rs199422327, rs121908715, rs121908739, rs121908740, rs121908723, rs387906267, rs121908735, rs121908721, rs1194494050, rs2123516908, rs587776534, rs199422328, rs121908722, rs121908730, rs121908731, rs121908725, rs121908733, rs121908719, rs121908727, rs121908724, rs771266745, rs746052951, rs79281338, rs761242509, rs886041796, rs1057520217, rs751635016, rs763595926, rs778809577, rs780014431, rs1555845120, rs528390681, rs778343059, rs1555843178, rs766590645, rs1555844120, rs1312320956, rs1555844006, rs757796081, rs1555844395, rs1555844616, rs1555844617, rs749484894, rs751147673, rs1452483770, rs1568845361, rs758073965, rs1555844600, rs1209280928, rs1600921786, rs2065317387, rs2065325961, rs1225623204, rs1233957241, rs763478578	16492442, 27833609, 17827065, 11023514, 26123418, 15661025, 21664875, 24759676, 9843216, 25046553
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Lymphoblastic leukemia	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	21892159
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	17660530, 21833088, 17660817, 17660816, 19525955, 24076602, 19525955, 17660530, 17660816, 17660817
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Neutropenia	Neutropenia	rs879253882
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005

Unknown
Disease name	Disease term	dbSNP ID	References
Allergic rhinitis	Allergic rhinitis (disorder)		30013184
Alopecia	Alopecia
Biliary cirrhosis	Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis		21399635, 28062665, 21399635, 22961000
Eczema	Eczema		30595370
Endometrioma	Endometrioma		20864642
Endometriosis	Endometriosis	rs1800629, rs1143634	20864642
Eosinophilia	Eosinophilia
Exfoliative dermatitis	Exfoliative dermatitis
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Interleukin-7 receptor alpha deficiency	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Lymphoblastic leukemia with lymphomatous features	Acute lymphoblastic leukemia with lymphomatous features		22897847, 22955920
Lymphocytosis	Lymphocytosis
Omenn syndrome	Omenn Syndrome
Oral ulcer	Oral Ulcer
Otitis media	Otitis Media	rs601338, rs1047781, rs1800028
Respiratory tract diseases	Respiratory Tract Diseases		30595370
Biliary cholangitis	Secondary Biliary Cholangitis		21399635
Thyroiditis	Thyroiditis
Ulcerative colitis	Ulcerative Colitis		21297633