THEMIS (thymocyte selection associated)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 387357
• Gene name: Thymocyte selection associated
• Gene symbol: THEMIS
• Synonyms (NCBI Gene): C6orf190, C6orf207, GASP, SPOT, THEMIS1, TSEPA
• Chromosome: 6
• Chromosome location: 6q22.33
• Summary: This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and

miRNA Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1423355	hsa-miR-1258	CLIP-seq
MIRT1423356	hsa-miR-129-3p	CLIP-seq
MIRT1423357	hsa-miR-154	CLIP-seq
MIRT1423358	hsa-miR-28-3p	CLIP-seq
MIRT1423359	hsa-miR-3685	CLIP-seq
MIRT1423360	hsa-miR-374c	CLIP-seq
MIRT1423361	hsa-miR-384	CLIP-seq
MIRT1423362	hsa-miR-3922-5p	CLIP-seq
MIRT1423363	hsa-miR-4326	CLIP-seq
MIRT1423364	hsa-miR-4687-3p	CLIP-seq
MIRT1423365	hsa-miR-4775	CLIP-seq
MIRT1423366	hsa-miR-486-5p	CLIP-seq
MIRT1423367	hsa-miR-577	CLIP-seq
MIRT1423368	hsa-miR-590-3p	CLIP-seq
MIRT1423369	hsa-miR-655	CLIP-seq
MIRT1423370	hsa-miR-3074-3p	CLIP-seq
MIRT1423371	hsa-miR-3607-3p	CLIP-seq
MIRT1423372	hsa-miR-3686	CLIP-seq
MIRT1423373	hsa-miR-4464	CLIP-seq
MIRT1423374	hsa-miR-4652-3p	CLIP-seq
MIRT1423375	hsa-miR-4748	CLIP-seq
MIRT1423376	hsa-miR-487a	CLIP-seq
MIRT2126846	hsa-miR-4307	CLIP-seq
MIRT2126847	hsa-miR-4420	CLIP-seq
MIRT2126848	hsa-miR-4729	CLIP-seq
MIRT2126849	hsa-miR-4772-3p	CLIP-seq
MIRT2126850	hsa-miR-5096	CLIP-seq

Gene ontology (GO) Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	21189249, 23455924, 23460737, 25535246, 28046066, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005911	Component	Cell-cell junction	IEA
GO:0008180	Component	COP9 signalosome	IEA
GO:0008180	Component	COP9 signalosome	ISS
GO:0043368	Process	Positive T cell selection	IEA
GO:0043368	Process	Positive T cell selection	ISS
GO:0043383	Process	Negative T cell selection	IEA
GO:0043383	Process	Negative T cell selection	ISS
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050852	Process	T cell receptor signaling pathway	ISS

Other IDs

• MIM: 613607
• HGNC: 21569
• e!Ensembl: ENSG00000172673

Protein

• UniProt ID: Q8N1K5
• Protein name: Protein THEMIS (Thymocyte-expressed molecule involved in selection)
• Protein function: Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell develo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12736	CABIT	17 → 265	Cell-cycle sustaining, positive selection,	Domain
  PF12736	CABIT	281 → 530	Cell-cycle sustaining, positive selection,	Domain

• Sequence:

  MALSLEEFVHSLDLRTLPRVLEIQAGIYLEGSIYEMFGNECCFSTGEVIKITGLKVKKII
  AEICEQIEGCESLQPFELPMNFPGLFKIVADKTPYLTMEEITRTIHIGPSRLGHPCFYHQ
  KDIKLENLIIKQGEQIMLNSVEEIDGEIMVSCAVARNHQTHSFNLPLSQEGEFYECEDER
  IYTLKEIVEWKIPKNRTRTVNLTDFSNKWDSTNPFPKDFYGTLILKPVYEIQGVMKFRKD
  IIRILPSLDVEVKDITDSYDANWFLQLLSTEDLFEMTSKEFPIVTEVIEAPEGNHLPQSI
  LQPGKTIVIHKKYQASRILASEIRSNFPKRHFLIPTSYKGKFKRRPREFPTAYDLEIAKS
  EKEPLHVVATKAFHSPHDKLSSVSVGDQFLVHQSETTEVLCEGIKKVVNVLACEKILKKS
  YEAALLPLYMEGGFVEVIHDKKQYPISELCKQFRLPFNVKVSVRDLSIEEDVLAATPGLQ
  LEEDITDSYLLISDFANPTECWEIPVGRLNMTVQLVSNFSRDAEPFLVRTLVEEITEEQY
  YMMRRYESSASHPPPRPPKHPSVEETKLTLLTLAEERTVDLPKSPKRHHVDITKKLHPNQ
  AGLDSKVLIGSQNDLVDEEKERSNRGATAIAETFKNEKHQK

• Sequence length: 641

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)

Unknown / Other Associations Show/Hide Unknown Diseases (16)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	31669095, 31959851, 32296059, 34103634, 36344522, 37560908, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	20190752, 25920553	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	31407831	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	38538606	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	23128233, 26192919, 26974007, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	29196614	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	23128233, 26192919, 28067908, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	21833088, 31407831, 31604244, 40262193	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	30595370, 38965376	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26192919, 26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	31488892	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (21)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	30552067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28983737		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	17385213		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	8673110		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	20190752, 23820479	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	CTD_human_DG	20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	23820479		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	25920553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	30712013		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30917713		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23176201		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35986039	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20021714		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	27345620, 31554191		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18623241		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27438997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	27438997	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	20021714		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	31826888		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	28275073		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29065906		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PTPRK 6 shared diseasesCeliac disease, Lymphocytic leukemia, Hodgkin lymphoma, Narcolepsy, Respiratory system disease, Sclerosing cholangitis 7 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Celiac disease), GWAS catalog (Lymphocytic leukemia), GWAS catalog (Hodgkin lymphoma), GWAS catalog (Narcolepsy), GWAS catalog (Respiratory system disease), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Celiac disease, Lymphocytic leukemia — evidence mostly GWAS catalog. TNFRSF14 3 shared diseasesCeliac disease, Respiratory system disease, Sclerosing cholangitis 5 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), CTD (Celiac disease), Disgenet (Celiac disease), GWAS catalog (Respiratory system disease), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Celiac disease, Respiratory system disease — evidence mostly GWAS catalog. SNX20 2 shared diseasesRespiratory system disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Respiratory system disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Respiratory system disease, Sclerosing cholangitis — evidence mostly GWAS catalog. INAVA 2 shared diseasesCeliac disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Celiac disease, Sclerosing cholangitis — evidence mostly GWAS catalog. GATD3 2 shared diseasesCeliac disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Celiac disease, Sclerosing cholangitis — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PTPRK	6	["Celiac disease","Lymphocytic leukemia","Hodgkin lymphoma","Narcolepsy","Respiratory system disease","Sclerosing cholangitis"]	0	[]	7	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Celiac disease)","GWAS catalog (Lymphocytic leukemia)","GWAS catalog (Hodgkin lymphoma)","GWAS catalog (Narcolepsy)","GWAS catalog (Respiratory system disease)","GWAS catalog (Sclerosing cholangitis)"]
TNFRSF14	3	["Celiac disease","Respiratory system disease","Sclerosing cholangitis"]	0	[]	5	["GWAS catalog (Ankylosing spondylitis)","CTD (Celiac disease)","Disgenet (Celiac disease)","GWAS catalog (Respiratory system disease)","GWAS catalog (Sclerosing cholangitis)"]
SNX20	2	["Respiratory system disease","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Respiratory system disease)","GWAS catalog (Sclerosing cholangitis)"]
INAVA	2	["Celiac disease","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Celiac disease)","GWAS catalog (Sclerosing cholangitis)"]
GATD3	2	["Celiac disease","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Celiac disease)","GWAS catalog (Sclerosing cholangitis)"]

Diseases Linked via Similar Genes

Rheumatoid arthritis Linked via 3 of 5 related genesTNFRSF14, SNX20, INAVA Schizophrenia Linked via 2 of 5 related genesPTPRK, INAVA Astrocytoma Linked via 1 of 5 related genesPTPRK Attention deficit hyperactivity disorder Linked via 1 of 5 related genesPTPRK Central nervous system cancer Linked via 1 of 5 related genesPTPRK

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Rheumatoid arthritis	3	["TNFRSF14","SNX20","INAVA"]
Schizophrenia	2	["PTPRK","INAVA"]
Astrocytoma	1	["PTPRK"]
Attention deficit hyperactivity disorder	1	["PTPRK"]
Central nervous system cancer	1	["PTPRK"]