ILDR2 (immunoglobulin like domain containing receptor 2)

Gene

• Entrez ID: 387597
• Gene name: Immunoglobulin like domain containing receptor 2
• Gene symbol: ILDR2
• Synonyms (NCBI Gene): C1orf32, dJ782G3.1
• Chromosome: 1
• Chromosome location: 1q24.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1065300	hsa-miR-1202	CLIP-seq
MIRT1065301	hsa-miR-1207-3p	CLIP-seq
MIRT1065302	hsa-miR-1237	CLIP-seq
MIRT1065303	hsa-miR-1248	CLIP-seq
MIRT1065304	hsa-miR-1262	CLIP-seq
MIRT1065305	hsa-miR-1273e	CLIP-seq
MIRT1065306	hsa-miR-1276	CLIP-seq
MIRT1065307	hsa-miR-1293	CLIP-seq
MIRT1065308	hsa-miR-1304	CLIP-seq
MIRT1065309	hsa-miR-130a	CLIP-seq
MIRT1065310	hsa-miR-130b	CLIP-seq
MIRT1065311	hsa-miR-1321	CLIP-seq
MIRT1065312	hsa-miR-134	CLIP-seq
MIRT1065313	hsa-miR-15a	CLIP-seq
MIRT1065314	hsa-miR-15b	CLIP-seq
MIRT1065315	hsa-miR-16	CLIP-seq
MIRT1065316	hsa-miR-186	CLIP-seq
MIRT1065317	hsa-miR-1911	CLIP-seq
MIRT1065318	hsa-miR-1912	CLIP-seq
MIRT1065319	hsa-miR-195	CLIP-seq
MIRT1065320	hsa-miR-198	CLIP-seq
MIRT1065321	hsa-miR-202	CLIP-seq
MIRT1065322	hsa-miR-29a	CLIP-seq
MIRT1065323	hsa-miR-29b	CLIP-seq
MIRT1065324	hsa-miR-29c	CLIP-seq
MIRT1065325	hsa-miR-301a	CLIP-seq
MIRT1065326	hsa-miR-301b	CLIP-seq
MIRT1065327	hsa-miR-3065-5p	CLIP-seq
MIRT1065328	hsa-miR-3118	CLIP-seq
MIRT1065329	hsa-miR-3126-5p	CLIP-seq
MIRT1065330	hsa-miR-3130-3p	CLIP-seq
MIRT1065331	hsa-miR-3130-5p	CLIP-seq
MIRT1065332	hsa-miR-3133	CLIP-seq
MIRT1065333	hsa-miR-3160-3p	CLIP-seq
MIRT1065334	hsa-miR-3161	CLIP-seq
MIRT1065335	hsa-miR-3164	CLIP-seq
MIRT1065336	hsa-miR-3187-3p	CLIP-seq
MIRT1065337	hsa-miR-3194-5p	CLIP-seq
MIRT1065338	hsa-miR-3198	CLIP-seq
MIRT1065339	hsa-miR-346	CLIP-seq
MIRT1065340	hsa-miR-3614-5p	CLIP-seq
MIRT1065341	hsa-miR-3646	CLIP-seq
MIRT1065342	hsa-miR-3666	CLIP-seq
MIRT1065343	hsa-miR-3672	CLIP-seq
MIRT1065344	hsa-miR-3688-5p	CLIP-seq
MIRT1065345	hsa-miR-3689a-3p	CLIP-seq
MIRT1065346	hsa-miR-3689c	CLIP-seq
MIRT1065347	hsa-miR-371-5p	CLIP-seq
MIRT1065348	hsa-miR-371b-5p	CLIP-seq
MIRT1065349	hsa-miR-374c	CLIP-seq
MIRT1065350	hsa-miR-3929	CLIP-seq
MIRT1065351	hsa-miR-3972	CLIP-seq
MIRT1065352	hsa-miR-424	CLIP-seq
MIRT1065353	hsa-miR-4257	CLIP-seq
MIRT1065354	hsa-miR-4274	CLIP-seq
MIRT1065355	hsa-miR-4282	CLIP-seq
MIRT1065356	hsa-miR-4288	CLIP-seq
MIRT1065357	hsa-miR-4295	CLIP-seq
MIRT1065358	hsa-miR-4309	CLIP-seq
MIRT1065359	hsa-miR-4311	CLIP-seq
MIRT1065360	hsa-miR-433	CLIP-seq
MIRT1065361	hsa-miR-4418	CLIP-seq
MIRT1065362	hsa-miR-4419a	CLIP-seq
MIRT1065363	hsa-miR-4419b	CLIP-seq
MIRT1065364	hsa-miR-4433	CLIP-seq
MIRT1065365	hsa-miR-4473	CLIP-seq
MIRT1065366	hsa-miR-4478	CLIP-seq
MIRT1065367	hsa-miR-4482	CLIP-seq
MIRT1065368	hsa-miR-4483	CLIP-seq
MIRT1065369	hsa-miR-4487	CLIP-seq
MIRT1065370	hsa-miR-4510	CLIP-seq
MIRT1065371	hsa-miR-4519	CLIP-seq
MIRT1065372	hsa-miR-4524	CLIP-seq
MIRT1065373	hsa-miR-4529-5p	CLIP-seq
MIRT1065374	hsa-miR-454	CLIP-seq
MIRT1065375	hsa-miR-455-3p	CLIP-seq
MIRT1065376	hsa-miR-4640-5p	CLIP-seq
MIRT1065377	hsa-miR-4648	CLIP-seq
MIRT1065378	hsa-miR-4653-3p	CLIP-seq
MIRT1065379	hsa-miR-4654	CLIP-seq
MIRT1065380	hsa-miR-4659a-5p	CLIP-seq
MIRT1065381	hsa-miR-4659b-5p	CLIP-seq
MIRT1065382	hsa-miR-4671-3p	CLIP-seq
MIRT1065383	hsa-miR-4677-3p	CLIP-seq
MIRT1065384	hsa-miR-4679	CLIP-seq
MIRT1065385	hsa-miR-4701-3p	CLIP-seq
MIRT1065386	hsa-miR-4709-5p	CLIP-seq
MIRT1065387	hsa-miR-4711-5p	CLIP-seq
MIRT1065388	hsa-miR-4726-5p	CLIP-seq
MIRT1065389	hsa-miR-4728-5p	CLIP-seq
MIRT1065390	hsa-miR-4733-3p	CLIP-seq
MIRT1065391	hsa-miR-4739	CLIP-seq
MIRT1065392	hsa-miR-4747-5p	CLIP-seq
MIRT1065393	hsa-miR-4756-5p	CLIP-seq
MIRT1065394	hsa-miR-4761-5p	CLIP-seq
MIRT1065395	hsa-miR-4768-5p	CLIP-seq
MIRT1065396	hsa-miR-4769-3p	CLIP-seq
MIRT1065397	hsa-miR-4769-5p	CLIP-seq
MIRT1065398	hsa-miR-4793-3p	CLIP-seq
MIRT1065399	hsa-miR-4803	CLIP-seq
MIRT1065400	hsa-miR-485-5p	CLIP-seq
MIRT1065401	hsa-miR-490-5p	CLIP-seq
MIRT1065402	hsa-miR-497	CLIP-seq
MIRT1065403	hsa-miR-501-3p	CLIP-seq
MIRT1065404	hsa-miR-502-3p	CLIP-seq
MIRT1065405	hsa-miR-505	CLIP-seq
MIRT1065406	hsa-miR-509-3-5p	CLIP-seq
MIRT1065407	hsa-miR-509-5p	CLIP-seq
MIRT1065408	hsa-miR-516b	CLIP-seq
MIRT1065409	hsa-miR-520a-5p	CLIP-seq
MIRT1065410	hsa-miR-525-5p	CLIP-seq
MIRT1065411	hsa-miR-539	CLIP-seq
MIRT1065412	hsa-miR-548c-3p	CLIP-seq
MIRT1065413	hsa-miR-558	CLIP-seq
MIRT1065414	hsa-miR-583	CLIP-seq
MIRT1065415	hsa-miR-610	CLIP-seq
MIRT1065416	hsa-miR-617	CLIP-seq
MIRT1065417	hsa-miR-632	CLIP-seq
MIRT1065418	hsa-miR-644	CLIP-seq
MIRT1065419	hsa-miR-649	CLIP-seq
MIRT1065420	hsa-miR-654-3p	CLIP-seq
MIRT1065421	hsa-miR-655	CLIP-seq
MIRT1065422	hsa-miR-664	CLIP-seq
MIRT1065423	hsa-miR-665	CLIP-seq
MIRT1065424	hsa-miR-765	CLIP-seq
MIRT1065425	hsa-miR-767-5p	CLIP-seq
MIRT1065426	hsa-miR-885-3p	CLIP-seq
MIRT1065427	hsa-miR-890	CLIP-seq
MIRT1065428	hsa-miR-942	CLIP-seq
MIRT1550147	hsa-miR-646	CLIP-seq
MIRT2015535	hsa-miR-1184	CLIP-seq
MIRT2015536	hsa-miR-1200	CLIP-seq
MIRT1065300	hsa-miR-1202	CLIP-seq
MIRT2015537	hsa-miR-1205	CLIP-seq
MIRT1065301	hsa-miR-1207-3p	CLIP-seq
MIRT2015538	hsa-miR-1226	CLIP-seq
MIRT1065303	hsa-miR-1248	CLIP-seq
MIRT2015539	hsa-miR-1301	CLIP-seq
MIRT2015540	hsa-miR-1305	CLIP-seq
MIRT2015541	hsa-miR-138	CLIP-seq
MIRT2015542	hsa-miR-203	CLIP-seq
MIRT2015543	hsa-miR-2682	CLIP-seq
MIRT2015544	hsa-miR-3127-3p	CLIP-seq
MIRT2015545	hsa-miR-3137	CLIP-seq
MIRT2015546	hsa-miR-3158-5p	CLIP-seq
MIRT1065337	hsa-miR-3194-5p	CLIP-seq
MIRT1065345	hsa-miR-3689a-3p	CLIP-seq
MIRT1065346	hsa-miR-3689c	CLIP-seq
MIRT2015547	hsa-miR-376a	CLIP-seq
MIRT2015548	hsa-miR-376b	CLIP-seq
MIRT2015549	hsa-miR-3942-3p	CLIP-seq
MIRT1065351	hsa-miR-3972	CLIP-seq
MIRT1065353	hsa-miR-4257	CLIP-seq
MIRT2015550	hsa-miR-4423-3p	CLIP-seq
MIRT2015551	hsa-miR-4464	CLIP-seq
MIRT2015552	hsa-miR-4494	CLIP-seq
MIRT2015553	hsa-miR-449c	CLIP-seq
MIRT2015554	hsa-miR-4540	CLIP-seq
MIRT2015555	hsa-miR-4659a-3p	CLIP-seq
MIRT2015556	hsa-miR-4659b-3p	CLIP-seq
MIRT2015557	hsa-miR-4660	CLIP-seq
MIRT1065389	hsa-miR-4728-5p	CLIP-seq
MIRT2015558	hsa-miR-4748	CLIP-seq
MIRT2015559	hsa-miR-4778-3p	CLIP-seq
MIRT2015560	hsa-miR-498	CLIP-seq
MIRT2015561	hsa-miR-499a-5p	CLIP-seq
MIRT2015562	hsa-miR-5047	CLIP-seq
MIRT2015563	hsa-miR-512-5p	CLIP-seq
MIRT2015564	hsa-miR-548q	CLIP-seq
MIRT1065414	hsa-miR-583	CLIP-seq
MIRT2015565	hsa-miR-593	CLIP-seq
MIRT1065416	hsa-miR-617	CLIP-seq
MIRT2015566	hsa-miR-634	CLIP-seq
MIRT1550147	hsa-miR-646	CLIP-seq
MIRT1065420	hsa-miR-654-3p	CLIP-seq
MIRT1065427	hsa-miR-890	CLIP-seq
MIRT2015567	hsa-miR-940	CLIP-seq
MIRT2247853	hsa-miR-1197	CLIP-seq
MIRT2015536	hsa-miR-1200	CLIP-seq
MIRT1065301	hsa-miR-1207-3p	CLIP-seq
MIRT2247854	hsa-miR-1253	CLIP-seq
MIRT2247855	hsa-miR-125a-3p	CLIP-seq
MIRT2247856	hsa-miR-1286	CLIP-seq
MIRT1065308	hsa-miR-1304	CLIP-seq
MIRT2247857	hsa-miR-132	CLIP-seq
MIRT2247858	hsa-miR-1914	CLIP-seq
MIRT2247859	hsa-miR-194	CLIP-seq
MIRT2247860	hsa-miR-212	CLIP-seq
MIRT2247861	hsa-miR-2467-5p	CLIP-seq
MIRT2247862	hsa-miR-3074-5p	CLIP-seq
MIRT2247863	hsa-miR-3188	CLIP-seq
MIRT2247864	hsa-miR-3591-5p	CLIP-seq
MIRT2247865	hsa-miR-3609	CLIP-seq
MIRT1065340	hsa-miR-3614-5p	CLIP-seq
MIRT2247866	hsa-miR-3667-3p	CLIP-seq
MIRT1065343	hsa-miR-3672	CLIP-seq
MIRT1065345	hsa-miR-3689a-3p	CLIP-seq
MIRT1065346	hsa-miR-3689c	CLIP-seq
MIRT2015549	hsa-miR-3942-3p	CLIP-seq
MIRT2247867	hsa-miR-3944-5p	CLIP-seq
MIRT2247868	hsa-miR-3975	CLIP-seq
MIRT2247869	hsa-miR-4254	CLIP-seq
MIRT2247870	hsa-miR-4280	CLIP-seq
MIRT2247871	hsa-miR-4316	CLIP-seq
MIRT1065364	hsa-miR-4433	CLIP-seq
MIRT2247872	hsa-miR-4436a	CLIP-seq
MIRT2247873	hsa-miR-4476	CLIP-seq
MIRT2247874	hsa-miR-4696	CLIP-seq
MIRT1065386	hsa-miR-4709-5p	CLIP-seq
MIRT2247875	hsa-miR-4722-5p	CLIP-seq
MIRT1065389	hsa-miR-4728-5p	CLIP-seq
MIRT1065394	hsa-miR-4761-5p	CLIP-seq
MIRT1065400	hsa-miR-485-5p	CLIP-seq
MIRT2247876	hsa-miR-548ah	CLIP-seq
MIRT2247877	hsa-miR-552	CLIP-seq
MIRT2247878	hsa-miR-603	CLIP-seq
MIRT1065423	hsa-miR-665	CLIP-seq
MIRT2389396	hsa-miR-1208	CLIP-seq
MIRT2389397	hsa-miR-128	CLIP-seq
MIRT1065308	hsa-miR-1304	CLIP-seq
MIRT2389398	hsa-miR-140-3p	CLIP-seq
MIRT2389399	hsa-miR-142-5p	CLIP-seq
MIRT2389400	hsa-miR-1976	CLIP-seq
MIRT2389401	hsa-miR-219-2-3p	CLIP-seq
MIRT2389402	hsa-miR-2964a-5p	CLIP-seq
MIRT2389403	hsa-miR-3192	CLIP-seq
MIRT2389404	hsa-miR-340	CLIP-seq
MIRT2389405	hsa-miR-3653	CLIP-seq
MIRT2389406	hsa-miR-3658	CLIP-seq
MIRT2389407	hsa-miR-3688-3p	CLIP-seq
MIRT2389408	hsa-miR-3690	CLIP-seq
MIRT1065349	hsa-miR-374c	CLIP-seq
MIRT2389409	hsa-miR-3907	CLIP-seq
MIRT2389410	hsa-miR-3925-3p	CLIP-seq
MIRT2247869	hsa-miR-4254	CLIP-seq
MIRT2389411	hsa-miR-4294	CLIP-seq
MIRT2389412	hsa-miR-4314	CLIP-seq
MIRT1065364	hsa-miR-4433	CLIP-seq
MIRT2389413	hsa-miR-4646-5p	CLIP-seq
MIRT1065386	hsa-miR-4709-5p	CLIP-seq
MIRT2389414	hsa-miR-4773	CLIP-seq
MIRT2389415	hsa-miR-4797-3p	CLIP-seq
MIRT1065401	hsa-miR-490-5p	CLIP-seq
MIRT2389416	hsa-miR-513a-5p	CLIP-seq
MIRT2389417	hsa-miR-518a-3p	CLIP-seq
MIRT2389418	hsa-miR-518b	CLIP-seq
MIRT2389419	hsa-miR-518c	CLIP-seq
MIRT2389420	hsa-miR-518d-3p	CLIP-seq
MIRT2389421	hsa-miR-518f	CLIP-seq
MIRT2389422	hsa-miR-616	CLIP-seq
MIRT2389423	hsa-miR-642b	CLIP-seq
MIRT1065421	hsa-miR-655	CLIP-seq
MIRT1065423	hsa-miR-665	CLIP-seq
MIRT2389424	hsa-miR-766	CLIP-seq
MIRT2451796	hsa-miR-10a	CLIP-seq
MIRT2451797	hsa-miR-10b	CLIP-seq
MIRT2451798	hsa-miR-339-5p	CLIP-seq
MIRT2451799	hsa-miR-3613-3p	CLIP-seq
MIRT2451800	hsa-miR-3667-5p	CLIP-seq
MIRT1065347	hsa-miR-371-5p	CLIP-seq
MIRT1065348	hsa-miR-371b-5p	CLIP-seq
MIRT2451801	hsa-miR-4421	CLIP-seq
MIRT2451802	hsa-miR-4725-5p	CLIP-seq
MIRT2451803	hsa-miR-504	CLIP-seq
MIRT2451796	hsa-miR-10a	CLIP-seq
MIRT2451797	hsa-miR-10b	CLIP-seq
MIRT2451798	hsa-miR-339-5p	CLIP-seq
MIRT2451799	hsa-miR-3613-3p	CLIP-seq
MIRT2451800	hsa-miR-3667-5p	CLIP-seq
MIRT1065347	hsa-miR-371-5p	CLIP-seq
MIRT1065348	hsa-miR-371b-5p	CLIP-seq
MIRT2451801	hsa-miR-4421	CLIP-seq
MIRT2451802	hsa-miR-4725-5p	CLIP-seq
MIRT2451803	hsa-miR-504	CLIP-seq
MIRT2451796	hsa-miR-10a	CLIP-seq
MIRT2451797	hsa-miR-10b	CLIP-seq
MIRT1065313	hsa-miR-15a	CLIP-seq
MIRT1065314	hsa-miR-15b	CLIP-seq
MIRT1065315	hsa-miR-16	CLIP-seq
MIRT1065319	hsa-miR-195	CLIP-seq
MIRT2551672	hsa-miR-2278	CLIP-seq
MIRT2551673	hsa-miR-23a	CLIP-seq
MIRT2551674	hsa-miR-23b	CLIP-seq
MIRT2551675	hsa-miR-23c	CLIP-seq
MIRT2551676	hsa-miR-3153	CLIP-seq
MIRT2551677	hsa-miR-335	CLIP-seq
MIRT2451798	hsa-miR-339-5p	CLIP-seq
MIRT2551678	hsa-miR-342-3p	CLIP-seq
MIRT2451799	hsa-miR-3613-3p	CLIP-seq
MIRT2451800	hsa-miR-3667-5p	CLIP-seq
MIRT1065343	hsa-miR-3672	CLIP-seq
MIRT1065347	hsa-miR-371-5p	CLIP-seq
MIRT1065348	hsa-miR-371b-5p	CLIP-seq
MIRT1065352	hsa-miR-424	CLIP-seq
MIRT2451801	hsa-miR-4421	CLIP-seq
MIRT2551679	hsa-miR-451b	CLIP-seq
MIRT2389413	hsa-miR-4646-5p	CLIP-seq
MIRT2551680	hsa-miR-4668-5p	CLIP-seq
MIRT2247874	hsa-miR-4696	CLIP-seq
MIRT2451802	hsa-miR-4725-5p	CLIP-seq
MIRT1065402	hsa-miR-497	CLIP-seq
MIRT2451803	hsa-miR-504	CLIP-seq
MIRT2551681	hsa-miR-545	CLIP-seq
MIRT2551682	hsa-miR-548p	CLIP-seq
MIRT1065414	hsa-miR-583	CLIP-seq
MIRT2551683	hsa-miR-661	CLIP-seq
MIRT2451796	hsa-miR-10a	CLIP-seq
MIRT2451797	hsa-miR-10b	CLIP-seq
MIRT1065313	hsa-miR-15a	CLIP-seq
MIRT1065314	hsa-miR-15b	CLIP-seq
MIRT1065315	hsa-miR-16	CLIP-seq
MIRT1065319	hsa-miR-195	CLIP-seq
MIRT2551672	hsa-miR-2278	CLIP-seq
MIRT2551673	hsa-miR-23a	CLIP-seq
MIRT2551674	hsa-miR-23b	CLIP-seq
MIRT2551675	hsa-miR-23c	CLIP-seq
MIRT2551677	hsa-miR-335	CLIP-seq
MIRT2451798	hsa-miR-339-5p	CLIP-seq
MIRT2551678	hsa-miR-342-3p	CLIP-seq
MIRT2451799	hsa-miR-3613-3p	CLIP-seq
MIRT2451800	hsa-miR-3667-5p	CLIP-seq
MIRT1065347	hsa-miR-371-5p	CLIP-seq
MIRT1065348	hsa-miR-371b-5p	CLIP-seq
MIRT1065352	hsa-miR-424	CLIP-seq
MIRT2451801	hsa-miR-4421	CLIP-seq
MIRT2551679	hsa-miR-451b	CLIP-seq
MIRT2247874	hsa-miR-4696	CLIP-seq
MIRT2451802	hsa-miR-4725-5p	CLIP-seq
MIRT1065402	hsa-miR-497	CLIP-seq
MIRT2451803	hsa-miR-504	CLIP-seq
MIRT2551681	hsa-miR-545	CLIP-seq
MIRT2551682	hsa-miR-548p	CLIP-seq
MIRT1065414	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031016	Process	Pancreas development	IBA
GO:0031016	Process	Pancreas development	IEA
GO:0043484	Process	Regulation of RNA splicing	IEA
GO:0043484	Process	Regulation of RNA splicing	ISS
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050868	Process	Negative regulation of T cell activation	IDA	29431694
GO:0050868	Process	Negative regulation of T cell activation	IEA
GO:0070160	Component	Tight junction	IEA
GO:0070160	Component	Tight junction	ISS
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 618081
• HGNC: 18131
• e!Ensembl: ENSG00000143195

Protein

• UniProt ID: Q71H61
• Protein name: Immunoglobulin-like domain-containing receptor 2 (Angulin-3)
• Protein function: May be involved in ER stress pathways with effects on lipid homeostasis and insulin secretion. With ILDR1 and LSR, involved in the maintain of the epithelial barrier function through the recruitment of MARVELD2/tricellulin to tricellular tight j
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05624	LSR	186 → 233	Lipolysis stimulated receptor (LSR)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis, brain, pituitary, colon, heart, nerves, prostate, esophagus, lung liver and small intestine (PubMed:29431694). Highly expressed in macrophages, also expressed in monocytes and at low levels in NK and NKT cells (at
• Sequence:

  MDRVLLRWISLFWLTAMVEGLQVTVPDKKKVAMLFQPTVLRCHFSTSSHQPAVVQWKFKS
  YCQDRMGESLGMSSTRAQSLSKRNLEWDPYLDCLDSRRTVRVVASKQGSTVTLGDFYRGR
  EITIVHDADLQIGKLMWGDSGLYYCIITTPDDLEGKNEDSVELLVLGRTGLLADLLPSFA
  VEIMPEWVFVGLVLLGVFLFFVLVGICWCQCCPHSCCCYVRCPCCPDSCCCPQALYEAGK
  AAKAGYPPSVSGVPGPYSIPSVPLGGAPSSGMLMDKPHPPPLAPSDSTGGSHSVRKGYRI
  QADKERDSMKVLYYVEKELAQFDPARRMRGRYNNTISELSSLHEEDSNFRQSFHQMRSKQ
  FPVSGDLESNPDYWSGVMGGSSGASRGPSAMEYNKEDRESFRHSQPRSKSEMLSRKNFAT
  GVPAVSMDELAAFADSYGQRPRRADGNSHEARGGSRFERSESRAHSGFYQDDSLEEYYGQ
  RSRSREPLTDADRGWAFSPARRRPAEDAHLPRLVSRTPGTAPKYDHSYLGSARERQARPE
  GASRGGSLETPSKRSAQLGPRSASYYAWSPPGTYKAGSSQDDQEDASDDALPPYSELELT
  RGPSYRGRDLPYHSNSEKKRKKEPAKKTNDFPTRMSLVV

• Sequence length: 639

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Moyamoya angiopathy	Likely pathogenic	rs754861502	RCV004704498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis	Arthritis	BEFREE	29431694		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29431694		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29431694		★☆☆☆☆ Found in Text Mining only