THNSL2 (threonine synthase like 2)

Gene

• Entrez ID: 55258
• Gene name: Threonine synthase like 2
• Gene symbol: THNSL2
• Synonyms (NCBI Gene): SOFAT, THS2, TSH2
• Chromosome: 2
• Chromosome location: 2p11.2
• Summary: This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylat

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1423419	hsa-miR-3190	CLIP-seq
MIRT1423420	hsa-miR-3660	CLIP-seq
MIRT1423421	hsa-miR-4526	CLIP-seq
MIRT1423422	hsa-miR-4761-5p	CLIP-seq
MIRT1423423	hsa-miR-624	CLIP-seq
MIRT1423424	hsa-miR-671-5p	CLIP-seq
MIRT2126854	hsa-miR-4468	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004795	Function	Threonine synthase activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0009071	Process	Serine family amino acid catabolic process	IBA
GO:0016791	Function	Phosphatase activity	IEA
GO:0016791	Function	Phosphatase activity	ISS	17034760
GO:0016829	Function	Lyase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IBA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030170	Function	Pyridoxal phosphate binding	ISS	17034760
GO:0046360	Process	2-oxobutyrate biosynthetic process	IBA
GO:0070905	Function	Serine binding	IEA
GO:0070905	Function	Serine binding	ISS	17034760

Other IDs

• MIM: 611261
• HGNC: 25602
• e!Ensembl: ENSG00000144115

Protein

• UniProt ID: Q86YJ6
• Protein name: Threonine synthase-like 2 (TSH2) (EC 4.2.3.-) (Secreted osteoclastogenic factor of activated T-cells) (SOFAT)
• Protein function: [Isoform 1]: Acts as a catabolic phospho-lyase on both gamma- and beta-phosphorylated substrates. Degrades O-phospho-threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate (By similarity). ; [Isoform SOFAT]: Potent
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14821	Thr_synth_N	2 → 81	Threonine synthase N terminus	Domain
  PF00291	PALP	88 → 412	Pyridoxal-phosphate dependent enzyme	Family

• Sequence:

  MWYVSTRGVAPRVNFEGALFSGYAPDGGLFMPEELPQLDRGTLCQWSTLSYPGLVKELCA
  LFIGSELLPKDELNDLIDRAFSRFRHREVVHLSRLRNGLNVLELWHGVTYAFKDLSLSCT
  TQFLQYFLEKREKHVTVVVGTSGDTGSAAIESVQGAKNMDIIVLLPKGHCTKIQELQMTT
  VLKQNVHVFGVEGNSDELDEPIKTVFADVAFVKKHNLMSLNSINWSRVLVQMAHHFFAYF
  QCTPSLDTHPLPLVEVVVPTGAAGNLAAGYIAQKIGLPIRLVVAVNRNDIIHRTVQQGDF
  SLSEAVKSTLASAMDIQVPYNMERVFWLLSGSDSQVTRALMEQFERTQSVNLPKELHSKL
  SEAVTSVSVSDEAITQTMGRCWDENQYLLCPHSAVAVNYHYQQIDRQQPSTPRCCLAPAS
  AAKFPEAVLAAGLTPETPAEIVALEHKETRCTLMRRGDNWMLMLRDTIEDLSRQWRSHAL
  NTSQ

• Sequence length: 484

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
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Diabetes Mellitus	Associate	27322064	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	26480920	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	26480920	★☆☆☆☆ Found in Text Mining only