TSPYL2 (TSPY like 2)

Gene

• Entrez ID: 64061
• Gene name: TSPY like 2
• Gene symbol: TSPYL2
• Synonyms (NCBI Gene): CDA1, CINAP, CTCL, DENTT, HRIHFB2216, NP79, SE204, TSPX
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle pr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004680	hsa-miR-15a-5p	Luciferase reporter assay	19478946
MIRT016836	hsa-miR-335-5p	Microarray	18185580
MIRT044649	hsa-miR-320a	CLASH	23622248
MIRT1460238	hsa-miR-15a	CLIP-seq
MIRT1460239	hsa-miR-15b	CLIP-seq
MIRT1460240	hsa-miR-16	CLIP-seq
MIRT1460241	hsa-miR-195	CLIP-seq
MIRT1460242	hsa-miR-424	CLIP-seq
MIRT1460243	hsa-miR-4524	CLIP-seq
MIRT1460244	hsa-miR-4706	CLIP-seq
MIRT1460245	hsa-miR-4734	CLIP-seq
MIRT1460246	hsa-miR-4749-5p	CLIP-seq
MIRT1460247	hsa-miR-497	CLIP-seq
MIRT1460248	hsa-miR-503	CLIP-seq
MIRT1460249	hsa-miR-582-5p	CLIP-seq
MIRT1460250	hsa-miR-596	CLIP-seq
MIRT1460251	hsa-miR-646	CLIP-seq
MIRT1460252	hsa-miR-744	CLIP-seq
MIRT2138174	hsa-miR-3150b-3p	CLIP-seq
MIRT2138175	hsa-miR-4784	CLIP-seq
MIRT1460238	hsa-miR-15a	CLIP-seq
MIRT1460239	hsa-miR-15b	CLIP-seq
MIRT1460240	hsa-miR-16	CLIP-seq
MIRT1460241	hsa-miR-195	CLIP-seq
MIRT2359153	hsa-miR-3180	CLIP-seq
MIRT2359154	hsa-miR-3180-3p	CLIP-seq
MIRT2359155	hsa-miR-3196	CLIP-seq
MIRT2359156	hsa-miR-3926	CLIP-seq
MIRT1460242	hsa-miR-424	CLIP-seq
MIRT2359157	hsa-miR-4488	CLIP-seq
MIRT1460243	hsa-miR-4524	CLIP-seq
MIRT2359158	hsa-miR-4697-5p	CLIP-seq
MIRT1460244	hsa-miR-4706	CLIP-seq
MIRT1460245	hsa-miR-4734	CLIP-seq
MIRT1460246	hsa-miR-4749-5p	CLIP-seq
MIRT1460247	hsa-miR-497	CLIP-seq
MIRT1460248	hsa-miR-503	CLIP-seq
MIRT1460250	hsa-miR-596	CLIP-seq
MIRT1460251	hsa-miR-646	CLIP-seq
MIRT2359159	hsa-miR-658	CLIP-seq
MIRT1460252	hsa-miR-744	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000182	Function	RDNA binding	NAS	11395479
GO:0000785	Component	Chromatin	IBA
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	26496610, 28514442, 32296183, 32707033, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11395479
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	11395479
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IEA
GO:0008156	Process	Negative regulation of DNA replication	IDA	11395479
GO:0009966	Process	Regulation of signal transduction	NAS	11395479
GO:0030308	Process	Negative regulation of cell growth	IDA	11395479
GO:0042393	Function	Histone binding	IBA
GO:0045786	Process	Negative regulation of cell cycle	NAS	11395479
GO:0045859	Process	Regulation of protein kinase activity	IDA	11395479

Other IDs

• MIM: 300564
• HGNC: 24358
• e!Ensembl: ENSG00000184205

Protein

• UniProt ID: Q9H2G4
• Protein name: Testis-specific Y-encoded-like protein 2 (TSPY-like protein 2) (Cell division autoantigen 1) (Cutaneous T-cell lymphoma-associated antigen se20-4) (CTCL-associated antigen se20-4) (Differentially-expressed nucleolar TGF-beta1 target protein) (Nuclear prot
• Protein function: Part of the CASK/TBR1/TSPYL2 transcriptional complex which modulates gene expression in response to neuronal synaptic activity, probably by facilitating nucleosome assembly. May inhibit cell proliferation by inducing p53-dependent CDKN1A express
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00956	NAP	259 → 426	Nucleosome assembly protein (NAP)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in brain, testis and heart, and lowest levels in liver and pancreas. {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:11318608, ECO:0000269|PubMed:12393179, ECO:0000269|PubMed:15241014}.
• Sequence:

  MDRPDEGPPAKTRRLSSSESPQRDPPPPPPPPPLLRLPLPPPQQRPRLQEETEAAQVLAD
  MRGVGLGPALPPPPPYVILEEGGIRAYFTLGAECPGWDSTIESGYGEAPPPTESLEALPT
  PEASGGSLEIDFQVVQSSSFGGEGALETCSAVGWAPQRLVDPKSKEEAIIIVEDEDEDER
  ESMRSSRRRRRRRRRKQRKVKRESRERNAERMESILQALEDIQLDLEAVNIKAGKAFLRL
  KRKFIQMRRPFLERRDLIIQHIPGFWVKAFLNHPRISILINRRDEDIFRYLTNLQVQDLR
  HISMGYKMKLYFQTNPYFTNMVIVKEFQRNRSGRLVSHSTPIRWHRGQEPQARRHGNQDA
  SHSFFSWFSNHSLPEADRIAEIIKNDLWVNPLRYYLRERGSRIKRKKQEMKKRKTRGRCE
  VVIMEDAPDYYAVEDIFSEISDIDETIHDIKISDFMETTDYFETTDNEITDINENICDSE
  NPDHNEVPNNETTDNNESADDHETTDNNESADDNNENPEDNNKNTDDNEENPNNNENTYG
  NNFFKGGFWGSHGNNQDSSDSDNEADEASDDEDNDGNEGDNEGSDDDGNEGDNEGSDDDD
  RDIEYYEKVIEDFDKDQADYEDVIEIISDESVEEEGIEEGIQQDEDIYEEGNYEEEGSED
  VWEEGEDSDDSDLEDVLQVPNGWANPGKRGKTG

• Sequence length: 693

Pathways

Reactome:

XBP1(S) activates chaperone genes

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
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	15823505		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	12071943		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29311219		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29311219		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28218382		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	23806268		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28169398	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21829568	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15823505		★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	21378561, 7507739, 9345103		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	BEFREE	24420417		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26059843	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29311219		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29311219		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20962744, 30425061		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	23104009		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	23104009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23104009	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythema Multiforme	Erythema	BEFREE	28644551		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	8978274		★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	12071943		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28107479		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26529358		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	14710895		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	24291816	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21829568		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	11395479	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8045039		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	11893040, 14595754, 27393975		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15823505		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28169398, 30863497		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11893040, 30836926		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	26529358		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21829568, 2297046, 27998183, 28169398, 29974883, 30863497, 7579411, 8045035		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30051352		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30051352		★☆☆☆☆ Found in Text Mining only
Parapsoriasis en Plaques	Parapsoriasis En Plaques	BEFREE	8045035		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	23589175		★☆☆☆☆ Found in Text Mining only
Primary Cutaneous Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	14595754		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28169398, 30863497		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28169398	Associate	★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30425061		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	1848269, 28107479, 30221071		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	30221071		★☆☆☆☆ Found in Text Mining only
Subcutaneous panniculitis-like T-cell lymphoma	Subcutaneous Panniculitis-Like T-Cell Lymphoma	BEFREE	24815502		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	30221071		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	30221071		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	14710895, 28218382, 7579411		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	12393179		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24291816		★☆☆☆☆ Found in Text Mining only