THEMIS (thymocyte selection associated)

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

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)

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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	CTD_human_DG	20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	20190752, 23820479	Associate	★★☆☆☆ 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