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    THNSL2 threonine synthase like 2 [ Homo sapiens (human) ]

    Gene ID: 55258, updated on 10-Dec-2024

    Summary

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    Official Symbol
    THNSL2provided by HGNC
    Official Full Name
    threonine synthase like 2provided by HGNC
    Primary source
    HGNC:HGNC:25602
    See related
    Ensembl:ENSG00000144115 MIM:611261; AllianceGenome:HGNC:25602
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    THS2; TSH2; SOFAT
    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 phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in kidney (RPKM 9.9), thyroid (RPKM 9.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THNSL2 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (88170346..88186627)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (88181454..88198653)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (88469865..88486146)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928347 Neighboring gene fatty acid binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:88485325-88486142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:88501273-88501863 Neighboring gene RNY4 pseudogene 15 Neighboring gene uncharacterized LOC124907855

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. SOFAT as a Putative Marker of Osteoclasts in Bone Lesions. Cândido-Soares LE, et al. Appl Immunohistochem Mol Morphol, 2019 Jul. PMID 29489507
    2. Expression of SOFAT by T- and B-lineage cells may contribute to bone loss. Jarry CR, et al. Mol Med Rep, 2016 May. PMID 27035849, Free PMC Article
    3. In vitro evaluation of the biological effect of SOFAT on osteoblasts. Napimoga MH, et al. Int Immunopharmacol, 2015 Jun. PMID 25916677
    4. Secreted osteoclastogenic factor of activated T cells (SOFAT), a novel osteoclast activator, in chronic periodontitis. Jarry CR, et al. Hum Immunol, 2013 Jul. PMID 23619471
    5. Secreted Osteoclastogenic Factor of Activated T Cells (SOFAT) Is Associated With Rheumatoid Arthritis and Joint Pain: Initial Evidences of a New Pathway. Napimoga MH, et al. Front Immunol, 2020. PMID 32849501, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Secreted Osteoclastogenic Factor of Activated T Cells (SOFAT) Is Associated With Rheumatoid Arthritis and Joint Pain: Initial Evidences of a New Pathway.
      Title: Secreted Osteoclastogenic Factor of Activated T Cells (SOFAT) Is Associated With Rheumatoid Arthritis and Joint Pain: Initial Evidences of a New Pathway.
    2. this study shows that SOFAT is a putative marker of osteoclasts in bone lesions
      Title: SOFAT as a Putative Marker of Osteoclasts in Bone Lesions.
    3. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women.
      Title: Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
    4. These data support a putative role of SOFAT in the bone loss associated with chronic periodontal disease.
      Title: Expression of SOFAT by T- and B-lineage cells may contribute to bone loss.
    5. may exacerbate inflammation and support osteoclast formation and bone destruction
      Title: In vitro evaluation of the biological effect of SOFAT on osteoblasts.
    6. The present study demonstrated that SOFAT may play an important role in periodontitis.
      Title: Secreted osteoclastogenic factor of activated T cells (SOFAT), a novel osteoclast activator, in chronic periodontitis.
    7. THNSL2 was found to have bimodal expression in human skeletal muscle tissue.
      Title: Bimodal distribution of RNA expression levels in human skeletal muscle tissue.
    8. A cytokine named SOFAT (secreted osteoclastogenic factor of activated T cells) can induce osteoblastic IL-6 production and osteoclast formation in the absence of osteoblasts or RANKL. It is insensitive to RANKL inhibitor osteoprotegerin.
      Title: A novel T cell cytokine, secreted osteoclastogenic factor of activated T cells, induces osteoclast formation in a RANKL-independent manner.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of threonine synthase-like 2 (THNSL2) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10916, FLJ35504

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pyridoxal phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pyridoxal phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables serine binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    NOT enables threonine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in 2-oxobutyrate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 2-oxobutyrate biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in serine family amino acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in serine family amino acid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    threonine synthase-like 2
    Names
    secreted osteoclastogenic factor of activated T cells
    NP_001231605.1
    NP_001231607.1
    NP_001371311.1
    NP_001371312.1
    NP_060741.3
    XP_005264458.1
    XP_005264459.1
    XP_006712104.1
    XP_006712105.1
    XP_006712106.1
    XP_006712107.1
    XP_011531255.1
    XP_011531256.1
    XP_011531257.1
    XP_024308743.1
    XP_047300852.1
    XP_047300854.1
    XP_047300855.1
    XP_047300856.1
    XP_047300857.1
    XP_047300858.1
    XP_054198756.1
    XP_054198757.1
    XP_054198758.1
    XP_054198759.1
    XP_054198760.1
    XP_054198761.1
    XP_054198762.1
    XP_054198763.1
    XP_054198764.1
    XP_054198765.1
    XP_054198766.1
    XP_054198767.1
    XP_054198768.1
    XP_054198769.1
    XP_054198770.1
    XP_054198771.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030037.1 RefSeqGene

      Range
      5052..21333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244676.2 → NP_001231605.1  threonine synthase-like 2 isoform 2

      See identical proteins and their annotated locations for NP_001231605.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a longer 5' UTR and uses an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC092836, AI313402, BC064423
      Consensus CDS
      CCDS58718.1
      UniProtKB/Swiss-Prot
      Q86YJ6
      Related
      ENSP00000339563.4, ENST00000343544.8
      Conserved Domains (1) summary
      cd01560
      Location:2 → 359
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...

    2. NM_001244678.2 → NP_001231607.1  threonine synthase-like 2 isoform 3

      See identical proteins and their annotated locations for NP_001231607.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, 3' UTR, and has multiple coding region differences, compared to variant 1. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC092836, AI313402, AK315831
      Consensus CDS
      CCDS74539.1
      UniProtKB/TrEMBL
      A8K0C1
      Related
      ENSP00000366464.4, ENST00000377254.7
      Conserved Domains (1) summary
      cl00342
      Location:1 → 201
      Trp-synth-beta_II; Tryptophan synthase beta superfamily (fold type II); this family of pyridoxal phosphate (PLP)-dependent enzymes catalyzes beta-replacement and beta-elimination reactions. This CD corresponds to aminocyclopropane-1-carboxylate deaminase (ACCD), tryptophan ...

    3. NM_001384382.1 → NP_001371311.1  threonine synthase-like 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC092836
      Consensus CDS
      CCDS74539.1
      UniProtKB/TrEMBL
      A8K0C1
      Conserved Domains (1) summary
      cl00342
      Location:1 → 201
      Trp-synth-beta_II; Tryptophan synthase beta superfamily (fold type II); this family of pyridoxal phosphate (PLP)-dependent enzymes catalyzes beta-replacement and beta-elimination reactions. This CD corresponds to aminocyclopropane-1-carboxylate deaminase (ACCD), tryptophan ...

    4. NM_001384383.1 → NP_001371312.1  threonine synthase-like 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC092836
      Consensus CDS
      CCDS92801.1
      Related
      ENST00000674282.1
      Conserved Domains (1) summary
      cd01560
      Location:2 → 359
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...

    5. NM_018271.5 → NP_060741.3  threonine synthase-like 2 isoform 1

      See identical proteins and their annotated locations for NP_060741.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC092836
      Consensus CDS
      CCDS2002.2
      UniProtKB/Swiss-Prot
      B3KTB1, B5MDX8, B7WPF8, D9ZZB8, Q6P2M7, Q6PI27, Q86YJ6, Q9NV54
      Related
      ENSP00000501453.1, ENST00000674334.2
      Conserved Domains (1) summary
      cd01560
      Location:2 → 464
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      88170346..88186627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712041.4 → XP_006712104.1  threonine synthase-like 2 isoform X3

      Conserved Domains (2) summary
      cd01560
      Location:2 → 408
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK09225
      Location:1 → 397
      PRK09225; threonine synthase; Validated

    2. XM_006712044.4 → XP_006712107.1  threonine synthase-like 2 isoform X13

      UniProtKB/TrEMBL
      C9JU10
      Related
      ENSP00000407553.1, ENST00000449349.5
      Conserved Domains (1) summary
      cl00342
      Location:2 → 268
      Trp-synth-beta_II; Tryptophan synthase beta superfamily (fold type II); this family of pyridoxal phosphate (PLP)-dependent enzymes catalyzes beta-replacement and beta-elimination reactions. This CD corresponds to aminocyclopropane-1-carboxylate deaminase (ACCD), tryptophan ...

    3. XM_011532954.3 → XP_011531256.1  threonine synthase-like 2 isoform X6

      Conserved Domains (2) summary
      cd01560
      Location:2 → 399
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK09225
      Location:1 → 389
      PRK09225; threonine synthase; Validated

    4. XM_047444898.1 → XP_047300854.1  threonine synthase-like 2 isoform X8

      Related
      ENSP00000501447.1, ENST00000496844.6

    5. XM_047444900.1 → XP_047300856.1  threonine synthase-like 2 isoform X10

    6. XM_047444901.1 → XP_047300857.1  threonine synthase-like 2 isoform X12

    7. XM_011532955.3 → XP_011531257.1  threonine synthase-like 2 isoform X11

      Conserved Domains (1) summary
      cl00342
      Location:1 → 306
      Trp-synth-beta_II; Tryptophan synthase beta superfamily (fold type II); this family of pyridoxal phosphate (PLP)-dependent enzymes catalyzes beta-replacement and beta-elimination reactions. This CD corresponds to aminocyclopropane-1-carboxylate deaminase (ACCD), tryptophan ...

    8. XM_047444902.1 → XP_047300858.1  threonine synthase-like 2 isoform X14

    9. XM_024452975.2 → XP_024308743.1  threonine synthase-like 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KTB1, B5MDX8, B7WPF8, D9ZZB8, Q6P2M7, Q6PI27, Q86YJ6, Q9NV54
      Conserved Domains (1) summary
      cd01560
      Location:2 → 464
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...

    10. XM_006712043.3 → XP_006712106.1  threonine synthase-like 2 isoform X7

      See identical proteins and their annotated locations for XP_006712106.1

      UniProtKB/Swiss-Prot
      Q86YJ6
      Conserved Domains (1) summary
      cd01560
      Location:2 → 359
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...

    11. XM_047444899.1 → XP_047300855.1  threonine synthase-like 2 isoform X9

    12. XM_011532953.3 → XP_011531255.1  threonine synthase-like 2 isoform X2

      Conserved Domains (2) summary
      cd01560
      Location:2 → 408
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK09225
      Location:1 → 397
      PRK09225; threonine synthase; Validated

    13. XM_005264402.4 → XP_005264459.1  threonine synthase-like 2 isoform X4

      Conserved Domains (2) summary
      cd01560
      Location:2 → 408
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK09225
      Location:1 → 397
      PRK09225; threonine synthase; Validated

    14. XM_006712042.4 → XP_006712105.1  threonine synthase-like 2 isoform X5

      Conserved Domains (2) summary
      cd01560
      Location:2 → 408
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...
      PRK09225
      Location:1 → 397
      PRK09225; threonine synthase; Validated

    15. XM_047444896.1 → XP_047300852.1  threonine synthase-like 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KTB1, B5MDX8, B7WPF8, D9ZZB8, Q6P2M7, Q6PI27, Q86YJ6, Q9NV54
      Related
      ENSP00000327323.5, ENST00000324166.7

    16. XM_005264401.6 → XP_005264458.1  threonine synthase-like 2 isoform X1

      See identical proteins and their annotated locations for XP_005264458.1

      UniProtKB/Swiss-Prot
      B3KTB1, B5MDX8, B7WPF8, D9ZZB8, Q6P2M7, Q6PI27, Q86YJ6, Q9NV54
      Conserved Domains (1) summary
      cd01560
      Location:2 → 464
      Thr-synth_2; Threonine synthase catalyzes the final step of threonine biosynthesis. The conversion of O-phosphohomoserine into threonine and inorganic phosphate is pyridoxal 5'-phosphate dependent. The Thr-synth_1 CD includes members from higher plants, cyanobacteria, ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      88181454..88198653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342791.1 → XP_054198766.1  threonine synthase-like 2 isoform X8

    2. XM_054342786.1 → XP_054198761.1  threonine synthase-like 2 isoform X3

    3. XM_054342795.1 → XP_054198770.1  threonine synthase-like 2 isoform X13

      UniProtKB/TrEMBL
      C9JU10

    4. XM_054342789.1 → XP_054198764.1  threonine synthase-like 2 isoform X6

    5. XM_054342794.1 → XP_054198769.1  threonine synthase-like 2 isoform X12

    6. XM_054342790.1 → XP_054198765.1  threonine synthase-like 2 isoform X7

    7. XM_054342792.1 → XP_054198767.1  threonine synthase-like 2 isoform X9

    8. XM_054342785.1 → XP_054198760.1  threonine synthase-like 2 isoform X2

    9. XM_054342787.1 → XP_054198762.1  threonine synthase-like 2 isoform X4

    10. XM_054342788.1 → XP_054198763.1  threonine synthase-like 2 isoform X5

    11. XM_054342782.1 → XP_054198757.1  threonine synthase-like 2 isoform X1

    12. XM_054342793.1 → XP_054198768.1  threonine synthase-like 2 isoform X10

    13. XM_054342781.1 → XP_054198756.1  threonine synthase-like 2 isoform X1

    14. XM_054342796.1 → XP_054198771.1  threonine synthase-like 2 isoform X11

    15. XM_054342784.1 → XP_054198759.1  threonine synthase-like 2 isoform X1

    16. XM_054342783.1 → XP_054198758.1  threonine synthase-like 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YJ6.3 GenPept UniProtKB/Swiss-Prot:Q86YJ6

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