PTPRT (protein tyrosine phosphatase receptor type T)

Gene

• Entrez ID: 11122
• Gene name: Protein tyrosine phosphatase receptor type T
• Gene symbol: PTPRT
• Synonyms (NCBI Gene): R-PTP-T, RPTP-rho, RPTPrho
• Chromosome: 20
• Chromosome location: 20q12-q13.11
• Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs762135776	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1060499749	G>A	Likely-pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017080	hsa-miR-335-5p	Microarray	18185580
MIRT051085	hsa-miR-16-5p	CLASH	23622248
MIRT047550	hsa-miR-10a-5p	CLASH	23622248
MIRT047447	hsa-miR-10b-5p	CLASH	23622248
MIRT043524	hsa-miR-331-3p	CLASH	23622248
MIRT052887	hsa-miR-3928-3p	CLASH	23622248
MIRT054778	hsa-miR-215-5p	Luciferase reporter assay, qRT-PCR, Western blot	24434140
MIRT725207	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT725206	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT725205	hsa-miR-4297	HITS-CLIP	19536157
MIRT725203	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT725204	hsa-miR-7702	HITS-CLIP	19536157
MIRT725202	hsa-miR-515-3p	HITS-CLIP	19536157
MIRT622553	hsa-miR-4311	HITS-CLIP	23824327
MIRT622551	hsa-miR-583	HITS-CLIP	23824327
MIRT654606	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT622550	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT622549	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT654605	hsa-miR-623	HITS-CLIP	23824327
MIRT654604	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT654603	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT654602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT654601	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT654600	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT654599	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622548	hsa-miR-5096	HITS-CLIP	23824327
MIRT622553	hsa-miR-4311	HITS-CLIP	23824327
MIRT622552	hsa-miR-1276	HITS-CLIP	23824327
MIRT622551	hsa-miR-583	HITS-CLIP	23824327
MIRT622550	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT622549	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT622548	hsa-miR-5096	HITS-CLIP	23824327
MIRT496336	hsa-miR-664a-3p	PAR-CLIP	22291592
MIRT496335	hsa-miR-186-3p	PAR-CLIP	22291592
MIRT496334	hsa-miR-29a-5p	PAR-CLIP	22291592
MIRT496333	hsa-miR-630	PAR-CLIP	22291592
MIRT496332	hsa-miR-3149	PAR-CLIP	22291592
MIRT725207	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT725206	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT725205	hsa-miR-4297	HITS-CLIP	19536157
MIRT725203	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT725204	hsa-miR-7702	HITS-CLIP	19536157
MIRT725202	hsa-miR-515-3p	HITS-CLIP	19536157
MIRT622553	hsa-miR-4311	HITS-CLIP	23824327
MIRT622551	hsa-miR-583	HITS-CLIP	23824327
MIRT654606	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT622550	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT622549	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT654605	hsa-miR-623	HITS-CLIP	23824327
MIRT654604	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT654603	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT654602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT654601	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT654600	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT654599	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622548	hsa-miR-5096	HITS-CLIP	23824327
MIRT622553	hsa-miR-4311	HITS-CLIP	23824327
MIRT622552	hsa-miR-1276	HITS-CLIP	23824327
MIRT622551	hsa-miR-583	HITS-CLIP	23824327
MIRT622550	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT622549	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT622548	hsa-miR-5096	HITS-CLIP	23824327
MIRT496336	hsa-miR-664a-3p	PAR-CLIP	22291592
MIRT496335	hsa-miR-186-3p	PAR-CLIP	22291592
MIRT496334	hsa-miR-29a-5p	PAR-CLIP	22291592
MIRT496333	hsa-miR-630	PAR-CLIP	22291592
MIRT496332	hsa-miR-3149	PAR-CLIP	22291592
MIRT1276472	hsa-miR-1	CLIP-seq
MIRT1276473	hsa-miR-1299	CLIP-seq
MIRT1276474	hsa-miR-1909	CLIP-seq
MIRT1276475	hsa-miR-206	CLIP-seq
MIRT1276476	hsa-miR-2278	CLIP-seq
MIRT1276477	hsa-miR-3125	CLIP-seq
MIRT1276478	hsa-miR-3138	CLIP-seq
MIRT1276479	hsa-miR-3140-5p	CLIP-seq
MIRT1276480	hsa-miR-3157-5p	CLIP-seq
MIRT1276481	hsa-miR-3661	CLIP-seq
MIRT1276482	hsa-miR-3673	CLIP-seq
MIRT1276483	hsa-miR-3911	CLIP-seq
MIRT1276484	hsa-miR-3916	CLIP-seq
MIRT1276485	hsa-miR-4279	CLIP-seq
MIRT1276486	hsa-miR-4468	CLIP-seq
MIRT1276487	hsa-miR-4691-5p	CLIP-seq
MIRT1276488	hsa-miR-4693-3p	CLIP-seq
MIRT1276489	hsa-miR-4695-5p	CLIP-seq
MIRT1276490	hsa-miR-4802-5p	CLIP-seq
MIRT1276491	hsa-miR-483-3p	CLIP-seq
MIRT1276492	hsa-miR-485-5p	CLIP-seq
MIRT1276493	hsa-miR-486-5p	CLIP-seq
MIRT1276494	hsa-miR-518a-5p	CLIP-seq
MIRT1276495	hsa-miR-527	CLIP-seq
MIRT1276496	hsa-miR-574-5p	CLIP-seq
MIRT1276497	hsa-miR-592	CLIP-seq
MIRT1276498	hsa-miR-597	CLIP-seq
MIRT1276499	hsa-miR-613	CLIP-seq
MIRT1276500	hsa-miR-631	CLIP-seq
MIRT1276501	hsa-miR-765	CLIP-seq
MIRT1276502	hsa-miR-875-3p	CLIP-seq
MIRT1276503	hsa-miR-877	CLIP-seq
MIRT1276472	hsa-miR-1	CLIP-seq
MIRT1276504	hsa-miR-1178	CLIP-seq
MIRT1276505	hsa-miR-1185	CLIP-seq
MIRT1276506	hsa-miR-1273e	CLIP-seq
MIRT1276507	hsa-miR-127-5p	CLIP-seq
MIRT1276508	hsa-miR-1294	CLIP-seq
MIRT1276509	hsa-miR-1470	CLIP-seq
MIRT1276510	hsa-miR-153	CLIP-seq
MIRT1276511	hsa-miR-18a	CLIP-seq
MIRT1276512	hsa-miR-18b	CLIP-seq
MIRT1276513	hsa-miR-1915	CLIP-seq
MIRT1276514	hsa-miR-197	CLIP-seq
MIRT1276475	hsa-miR-206	CLIP-seq
MIRT1276515	hsa-miR-2392	CLIP-seq
MIRT1276516	hsa-miR-2467-3p	CLIP-seq
MIRT1276517	hsa-miR-3133	CLIP-seq
MIRT1276518	hsa-miR-3200-5p	CLIP-seq
MIRT1276519	hsa-miR-320e	CLIP-seq
MIRT1276520	hsa-miR-3605-5p	CLIP-seq
MIRT1276521	hsa-miR-3622b-5p	CLIP-seq
MIRT1276481	hsa-miR-3661	CLIP-seq
MIRT1276522	hsa-miR-3662	CLIP-seq
MIRT1276482	hsa-miR-3673	CLIP-seq
MIRT1276523	hsa-miR-3678-3p	CLIP-seq
MIRT1276524	hsa-miR-3679-5p	CLIP-seq
MIRT1276525	hsa-miR-3714	CLIP-seq
MIRT1276526	hsa-miR-4287	CLIP-seq
MIRT1276527	hsa-miR-4316	CLIP-seq
MIRT1276528	hsa-miR-433	CLIP-seq
MIRT1276529	hsa-miR-4438	CLIP-seq
MIRT1276530	hsa-miR-4469	CLIP-seq
MIRT1276531	hsa-miR-448	CLIP-seq
MIRT1276532	hsa-miR-4642	CLIP-seq
MIRT1276533	hsa-miR-4667-3p	CLIP-seq
MIRT1276534	hsa-miR-4682	CLIP-seq
MIRT1276535	hsa-miR-4685-3p	CLIP-seq
MIRT1276536	hsa-miR-4711-5p	CLIP-seq
MIRT1276537	hsa-miR-4720-5p	CLIP-seq
MIRT1276538	hsa-miR-4726-3p	CLIP-seq
MIRT1276539	hsa-miR-4735-3p	CLIP-seq
MIRT1276540	hsa-miR-4757-5p	CLIP-seq
MIRT1276541	hsa-miR-4768-3p	CLIP-seq
MIRT1276542	hsa-miR-4793-5p	CLIP-seq
MIRT1276543	hsa-miR-4799-3p	CLIP-seq
MIRT1276544	hsa-miR-513a-5p	CLIP-seq
MIRT1276545	hsa-miR-548an	CLIP-seq
MIRT1276546	hsa-miR-548k	CLIP-seq
MIRT1276499	hsa-miR-613	CLIP-seq
MIRT1276547	hsa-miR-617	CLIP-seq
MIRT1276548	hsa-miR-626	CLIP-seq
MIRT1276549	hsa-miR-627	CLIP-seq
MIRT1276500	hsa-miR-631	CLIP-seq
MIRT1276550	hsa-miR-636	CLIP-seq
MIRT1276551	hsa-miR-640	CLIP-seq
MIRT1276552	hsa-miR-873	CLIP-seq
MIRT1276553	hsa-miR-924	CLIP-seq
MIRT1276486	hsa-miR-4468	CLIP-seq
MIRT2081312	hsa-miR-3664-3p	CLIP-seq
MIRT1276525	hsa-miR-3714	CLIP-seq
MIRT1276485	hsa-miR-4279	CLIP-seq
MIRT1276545	hsa-miR-548an	CLIP-seq
MIRT2081313	hsa-miR-1343	CLIP-seq
MIRT1276476	hsa-miR-2278	CLIP-seq
MIRT2081314	hsa-miR-4781-3p	CLIP-seq
MIRT2081315	hsa-miR-939	CLIP-seq
MIRT1276472	hsa-miR-1	CLIP-seq
MIRT2307288	hsa-miR-1206	CLIP-seq
MIRT2307289	hsa-miR-1208	CLIP-seq
MIRT2307290	hsa-miR-1236	CLIP-seq
MIRT2307291	hsa-miR-1287	CLIP-seq
MIRT2307292	hsa-miR-1293	CLIP-seq
MIRT1276473	hsa-miR-1299	CLIP-seq
MIRT2307293	hsa-miR-1321	CLIP-seq
MIRT2081313	hsa-miR-1343	CLIP-seq
MIRT2307294	hsa-miR-138	CLIP-seq
MIRT2307295	hsa-miR-146b-3p	CLIP-seq
MIRT1276474	hsa-miR-1909	CLIP-seq
MIRT2307296	hsa-miR-1913	CLIP-seq
MIRT1276513	hsa-miR-1915	CLIP-seq
MIRT1276475	hsa-miR-206	CLIP-seq
MIRT2307297	hsa-miR-2115	CLIP-seq
MIRT1276476	hsa-miR-2278	CLIP-seq
MIRT2307298	hsa-miR-3074-5p	CLIP-seq
MIRT2307299	hsa-miR-3135b	CLIP-seq
MIRT2307300	hsa-miR-3148	CLIP-seq
MIRT2307301	hsa-miR-3152-3p	CLIP-seq
MIRT2307302	hsa-miR-3153	CLIP-seq
MIRT2307303	hsa-miR-3162-5p	CLIP-seq
MIRT2307304	hsa-miR-3173-5p	CLIP-seq
MIRT2307305	hsa-miR-3182	CLIP-seq
MIRT2307306	hsa-miR-3189-3p	CLIP-seq
MIRT2307307	hsa-miR-3189-5p	CLIP-seq
MIRT2307308	hsa-miR-320a	CLIP-seq
MIRT2307309	hsa-miR-320b	CLIP-seq
MIRT2307310	hsa-miR-320c	CLIP-seq
MIRT2307311	hsa-miR-320d	CLIP-seq
MIRT1276519	hsa-miR-320e	CLIP-seq
MIRT2307312	hsa-miR-323-5p	CLIP-seq
MIRT2307313	hsa-miR-324-3p	CLIP-seq
MIRT2307314	hsa-miR-3665	CLIP-seq
MIRT2307315	hsa-miR-3671	CLIP-seq
MIRT2307316	hsa-miR-3689d	CLIP-seq
MIRT2307317	hsa-miR-378g	CLIP-seq
MIRT2307318	hsa-miR-3907	CLIP-seq
MIRT2307319	hsa-miR-3918	CLIP-seq
MIRT2307320	hsa-miR-3940-5p	CLIP-seq
MIRT2307321	hsa-miR-4265	CLIP-seq
MIRT2307322	hsa-miR-4270	CLIP-seq
MIRT1276485	hsa-miR-4279	CLIP-seq
MIRT2307323	hsa-miR-4292	CLIP-seq
MIRT2307324	hsa-miR-4296	CLIP-seq
MIRT2307325	hsa-miR-432	CLIP-seq
MIRT2307326	hsa-miR-4322	CLIP-seq
MIRT2307327	hsa-miR-4420	CLIP-seq
MIRT2307328	hsa-miR-4429	CLIP-seq
MIRT2307329	hsa-miR-4437	CLIP-seq
MIRT2307330	hsa-miR-4441	CLIP-seq
MIRT2307331	hsa-miR-4483	CLIP-seq
MIRT2307332	hsa-miR-4507	CLIP-seq
MIRT2307333	hsa-miR-450b-3p	CLIP-seq
MIRT2307334	hsa-miR-4648	CLIP-seq
MIRT2307335	hsa-miR-4653-3p	CLIP-seq
MIRT2307336	hsa-miR-4654	CLIP-seq
MIRT2307337	hsa-miR-4667-5p	CLIP-seq
MIRT2307338	hsa-miR-4668-5p	CLIP-seq
MIRT2307339	hsa-miR-4674	CLIP-seq
MIRT2307340	hsa-miR-4690-3p	CLIP-seq
MIRT2307341	hsa-miR-4694-3p	CLIP-seq
MIRT2307342	hsa-miR-4694-5p	CLIP-seq
MIRT2307343	hsa-miR-4699-3p	CLIP-seq
MIRT2307344	hsa-miR-4700-5p	CLIP-seq
MIRT2307345	hsa-miR-4705	CLIP-seq
MIRT2307346	hsa-miR-4713-3p	CLIP-seq
MIRT2307347	hsa-miR-4715-5p	CLIP-seq
MIRT2307348	hsa-miR-4736	CLIP-seq
MIRT2307349	hsa-miR-4739	CLIP-seq
MIRT2307350	hsa-miR-4756-5p	CLIP-seq
MIRT2307351	hsa-miR-4758-3p	CLIP-seq
MIRT2307352	hsa-miR-4769-5p	CLIP-seq
MIRT2307353	hsa-miR-4782-5p	CLIP-seq
MIRT2307354	hsa-miR-4790-3p	CLIP-seq
MIRT1276491	hsa-miR-483-3p	CLIP-seq
MIRT2307355	hsa-miR-486-3p	CLIP-seq
MIRT2307356	hsa-miR-513a-3p	CLIP-seq
MIRT2307357	hsa-miR-516a-3p	CLIP-seq
MIRT2307358	hsa-miR-516b	CLIP-seq
MIRT2307359	hsa-miR-522	CLIP-seq
MIRT2307360	hsa-miR-541	CLIP-seq
MIRT2307361	hsa-miR-548q	CLIP-seq
MIRT2307362	hsa-miR-555	CLIP-seq
MIRT2307363	hsa-miR-607	CLIP-seq
MIRT1276499	hsa-miR-613	CLIP-seq
MIRT2307364	hsa-miR-635	CLIP-seq
MIRT2307365	hsa-miR-638	CLIP-seq
MIRT2307366	hsa-miR-651	CLIP-seq
MIRT2307367	hsa-miR-654-5p	CLIP-seq
MIRT2307368	hsa-miR-7	CLIP-seq
MIRT1276501	hsa-miR-765	CLIP-seq
MIRT2307369	hsa-miR-769-3p	CLIP-seq
MIRT2307370	hsa-miR-874	CLIP-seq
MIRT2307371	hsa-miR-876-3p	CLIP-seq
MIRT2307372	hsa-miR-922	CLIP-seq
MIRT2081315	hsa-miR-939	CLIP-seq
MIRT2307373	hsa-miR-942	CLIP-seq
MIRT2393257	hsa-miR-4796-3p	CLIP-seq
MIRT2393258	hsa-miR-584	CLIP-seq
MIRT2457479	hsa-miR-3613-3p	CLIP-seq
MIRT2604892	hsa-miR-1203	CLIP-seq
MIRT2307290	hsa-miR-1236	CLIP-seq
MIRT2604893	hsa-miR-1277	CLIP-seq
MIRT1276473	hsa-miR-1299	CLIP-seq
MIRT2081313	hsa-miR-1343	CLIP-seq
MIRT2604894	hsa-miR-3065-3p	CLIP-seq
MIRT2307298	hsa-miR-3074-5p	CLIP-seq
MIRT2307305	hsa-miR-3182	CLIP-seq
MIRT2604895	hsa-miR-3919	CLIP-seq
MIRT2604896	hsa-miR-4446-5p	CLIP-seq
MIRT2307347	hsa-miR-4715-5p	CLIP-seq
MIRT2604897	hsa-miR-4756-3p	CLIP-seq
MIRT2604898	hsa-miR-4757-3p	CLIP-seq
MIRT2307353	hsa-miR-4782-5p	CLIP-seq
MIRT2307358	hsa-miR-516b	CLIP-seq
MIRT2307362	hsa-miR-555	CLIP-seq
MIRT2604899	hsa-miR-587	CLIP-seq
MIRT2689129	hsa-miR-1200	CLIP-seq
MIRT2689130	hsa-miR-1225-3p	CLIP-seq
MIRT2689131	hsa-miR-1233	CLIP-seq
MIRT2689132	hsa-miR-1237	CLIP-seq
MIRT2689133	hsa-miR-3140-3p	CLIP-seq
MIRT2689134	hsa-miR-4303	CLIP-seq
MIRT2689135	hsa-miR-4324	CLIP-seq
MIRT2307343	hsa-miR-4699-3p	CLIP-seq
MIRT2689136	hsa-miR-4724-3p	CLIP-seq
MIRT2689137	hsa-miR-4762-3p	CLIP-seq
MIRT2689138	hsa-miR-544b	CLIP-seq
MIRT2689139	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	16973135, 17360477
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	IDA	24846175
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	16273344, 19816407, 21725282, 24846175
GO:0005886	Component	Plasma membrane	IDA	18644975, 24846175
GO:0006470	Process	Protein dephosphorylation	IDA	16973135
GO:0007155	Process	Cell adhesion	NAS	16973135
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IDA	18644975
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	NAS	16973135
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IMP	16973135
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	16973135
GO:0009986	Component	Cell surface	IDA	18644975
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9602027
GO:0016787	Function	Hydrolase activity	IEA
GO:0016790	Function	Thiolester hydrolase activity	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	24846175
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0030336	Process	Negative regulation of cell migration	IMP	24846175
GO:0031175	Process	Neuron projection development	IBA
GO:0042803	Function	Protein homodimerization activity	IPI	24846175
GO:0045294	Function	Alpha-catenin binding	IDA	16973135
GO:0045294	Function	Alpha-catenin binding	IEA
GO:0045295	Function	Gamma-catenin binding	IDA	16973135
GO:0045295	Function	Gamma-catenin binding	IEA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	IPI	16973135
GO:0051393	Function	Alpha-actinin binding	IEA
GO:0070097	Function	Delta-catenin binding	IEA
GO:0070097	Function	Delta-catenin binding	IPI	16973135
GO:0071354	Process	Cellular response to interleukin-6	IDA	17360477
GO:0097677	Function	STAT family protein binding	IPI	17360477
GO:1904893	Process	Negative regulation of receptor signaling pathway via STAT	IDA	17360477
GO:1904893	Process	Negative regulation of receptor signaling pathway via STAT	IMP	24846175

Other IDs

• MIM: 608712
• HGNC: 9682
• e!Ensembl: ENSG00000196090

Protein

• UniProt ID: O14522
• Protein name: Receptor-type tyrosine-protein phosphatase T (R-PTP-T) (EC 3.1.3.48) (Receptor-type tyrosine-protein phosphatase rho) (RPTP-rho)
• Protein function: May be involved in both signal transduction and cellular adhesion in the CNS.
• PDB: 2OOQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00629	MAM	32 → 190	MAM domain, meprin/A5/mu	Domain
  PF00041	fn3	290 → 374	Fibronectin type III domain	Domain
  PF00041	fn3	498 → 578	Fibronectin type III domain	Domain
  PF18861	PTP_tm	614 → 772	Transmembrane domain of protein tyrosine phosphatase, receptor type J	Family
  PF00102	Y_phosphatase	912 → 1142	Protein-tyrosine phosphatase	Domain
  PF00102	Y_phosphatase	1202 → 1436	Protein-tyrosine phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in colon, lung, heart and testis, as well as in fetal and adult brain. Not detected in muscle and peripheral blood leukocytes. {ECO:0000269|PubMed:15155950}.
• Sequence:

  MASLAALALSLLLRLQLPPLPGARAQSAAGGCSFDEHYSNCGYSVALGTNGFTWEQINTW
  EKPMLDQAVPTGSFMMVNSSGRASGQKAHLLLPTLKENDTHCIDFHYYFSSRDRSSPGAL
  NVYVKVNGGPQGNPVWNVSGVVTEGWVKAELAISTFWPHFYQVIFESVSLKGHPGYIAVD
  EVRVLAHPCRKAPHFLRLQNVEVNVGQNATFQCIAGGKWSQHDKLWLQQWNGRDTALMVT
  RVVNHRRFSATVSVADTAQRSVSKYRCVIRSDGGSGVSNYAELIVKEPPTPIAPPELLAV
  GATYLWIKPNANSIIGDGPIILKEVEYRTTTGTWAETHIVDSPNYKLWHLDPDVEYEIRV
  LLTRPGEGGTGPPGPPLTTRTKCADPVHGPQNVEIVDIRARQLTLQWEPFGYAVTRCHSY
  NLTVQYQYVFNQQQYEAEEVIQTSSHYTLRGLRPFMTIRLRLLLSNPEGRMESEELVVQT
  EEDVPGAVPLESIQGGPFEEKIYIQWKPPNETNGVITLYEINYKAVGSLDPSADLSSQRG
  KVFKLRNETHHLFVGLYPGTTYSFTIKASTAKGFGPPVTTRIATKISAPSMPEYDTDTPL
  NETDTTITVMLKPAQSRGAPVSVYQLVVKEERLQKSRRAADIIECFSVPVSYRNASSLDS
  LHYFAAELKPANLPVTQPFTVGDNKTYNGYWNPPLSPLKSYSIYFQALSKANGETKINCV
  RLATKGASTQNSNTVEPEKQVDNTVKMAGVIAGLLMFIIILLGVMLTIKRRRNAYSYSYY
  LKLAKKQKETQSGAQREMGPVASADKPTTKLSASRNDEGFSSSSQDVNGFTDGSRGELSQ
  PTLTIQTHPYRTCDPVEMSYPRDQFQPAIRVADLLQHITQMKRGQGYGFKEEYEALPEGQ
  TASWDTAKEDENRNKNRYGNIISYDHSRVRLLVLDGDPHSDYINANYIDGYHRPRHYIAT
  QGPMQETVKDFWRMIWQENSASIVMVTNLVEVGRVKCVRYWPDDTEVYGDIKVTLIETEP
  LAEYVIRTFTVQKKGYHEIRELRLFHFTSWPDHGVPCYATGLLGFVRQVKFLNPPEAGPI
  VVHCSAGAGRTGCFIAIDTMLDMAENEGVVDIFNCVRELRAQRVNLVQTEEQYVFVHDAI
  LEACLCGNTAIPVCEFRSLYYNISRLDPQTNSSQIKDEFQTLNIVTPRVRPEDCSIGLLP
  RNHDKNRSMDVLPLDRCLPFLISVDGESSNYINAALMDSHKQPAAFVVTQHPLPNTVADF
  WRLVFDYNCSSVVMLNEMDTAQFCMQYWPEKTSGCYGPIQVEFVSADIDEDIIHRIFRIC
  NMARPQDGYRIVQHLQYIGWPAYRDTPPSKRSLLKVVRRLEKWQEQYDGREGRTVVHCLN
  GGGRSGTFCAICSVCEMIQQQNIIDVFHIVKTLRNNKSNMVETLEQYKFVYEVALEYLSS
  F

• Sequence length: 1441

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
Abnormal brain morphology	Likely pathogenic	rs1060499749, rs762135776	RCV000454175 RCV000454261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTPRT-associated neurodevelopmentaldisorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTPRT-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31844068		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	8700514		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	GWASCAT_DG	31116379		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18668548	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	14692702		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27586084	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28025742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	19478061		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34414233	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25967969	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17223850		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30551553	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28177435	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34810298	Associate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29275231		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	17614280		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17223850, 21517784		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30231850		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17360477, 30231850, 35789644	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8453613		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26283027		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15161761		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15161761		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17893260		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	34270794	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25967969	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15831233, 27586084		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27586084	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15831233, 19074898, 19478061, 22505657, 27586084		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27586084	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	9524099		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25982282		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26283027	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24493670	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17223850		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31595832	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38216925	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19440200	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25982282		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17223850		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10939623, 23060448		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17223850, 20230342, 25982282, 27693125, 29805737		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21517784		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34862763, 35688970	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28025742		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15831233, 1711217, 17223850, 21517784, 23060448, 25393105, 25967969, 25982282, 28052032, 8453613		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17828307		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31595832		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	27939989		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	26949921	Inhibit	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	40598468	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10939623, 23060448		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	28380430	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28380430	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8453613		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25967969		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24395800, 25982282	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25982282		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31570735		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	26742526		★☆☆☆☆ Found in Text Mining only