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    TLL2 tolloid like 2 [ Homo sapiens (human) ]

    Gene ID: 7093, updated on 25-May-2024

    Summary

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    Official Symbol
    TLL2provided by HGNC
    Official Full Name
    tolloid like 2provided by HGNC
    Primary source
    HGNC:HGNC:11844
    See related
    Ensembl:ENSG00000095587 MIM:606743; AllianceGenome:HGNC:11844
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TLL2 in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96364608..96513926, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97243944..97395061, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98124365..98273683, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98068473-98069311 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98069312-98070152 Neighboring gene NANOG hESC enhancer GRCh37_chr10:98084017-98084578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2653 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98104629-98105395 Neighboring gene DNA nucleotidylexotransferase Neighboring gene oligodendrocytic myelin paranodal and inner loop protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98138703-98139212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98156871-98157399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98201903-98202541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98210491-98210992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98246593-98247092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98262485-98262985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98265857-98266640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98271755-98272274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3827 Neighboring gene transmembrane 9 superfamily member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98331950-98332450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98332451-98332951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98339518-98340092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2654 Neighboring gene uncharacterized LOC105378443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3828 Neighboring gene nucleophosmin 1 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2655 Neighboring gene phosphoinositide-3-kinase adaptor protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. Jiang J, et al. BMC Med Genet, 2019 Dec 30. PMID 31888525, Free PMC Article
    2. Cross-species genetics converge to TLL2 for mouse avoidance behavior and human bipolar disorder. de Mooij-van Malsen JG, et al. Genes Brain Behav, 2013 Aug. PMID 23777486
    3. Cloning of the chick BMP1/Tolloid cDNA and expression in skeletal tissues. Reynolds SD, et al. Gene, 2000 May 2. PMID 10806368
    4. Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. Mac Sweeney A, et al. J Mol Biol, 2008 Dec 5. PMID 18824173
    5. Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival. Xu Y, et al. Mol Carcinog, 2018 Jan. PMID 28796414, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. genomic analysis identified compound heterozygous mutations at TLL2 on the male patient's genome, and compound heterozygous mutations at VPS13A and the de novo mutation at AGAP5 on female patient's genome
      Title: Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report.
    2. Findings suggest that these MMP16 rs10090371, ADAMTS3 rs788935, TLL2 rs10882807 and MMP9 rs3918251 may be promising prognostic biomarkers for cutaneous melanoma specific survival (CMSS).
      Title: Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival.
    3. By means of a cross-species comparative genetic strategy we describe an association for TLL2 with bipolar disorder.
      Title: Cross-species genetics converge to TLL2 for mouse avoidance behavior and human bipolar disorder.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    5. The crystal structures of the protease domains of human BMP-1 and the closely related Tolloid-like protease 1 (TLL-1), are reported.
      Title: Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases.
    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
    Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0932, MGC133312, MGC133313

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in collagen fibril organization TAS
    Traceable Author Statement
    more info
    		  
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of skeletal muscle tissue growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tolloid-like protein 2
    NP_036597.1

    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.

    mRNA and Protein(s)

    1. NM_012465.4 → NP_036597.1  tolloid-like protein 2 precursor

      See identical proteins and their annotated locations for NP_036597.1

      Status: VALIDATED

      Source sequence(s)
      AB023149, AL136181, AW452288, BC112341, DA716349
      Consensus CDS
      CCDS7449.1
      UniProtKB/Swiss-Prot
      A6NDK0, Q2M1H1, Q6PJN5, Q9UQ00, Q9Y6L7
      Related
      ENSP00000350630.3, ENST00000357947.4
      Conserved Domains (4) summary
      cd04281
      Location:150 → 349
      ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
      pfam00431
      Location:464 → 573
      CUB; CUB domain
      pfam01400
      Location:157 → 350
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:736 → 771
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      96364608..96513926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      97243944..97395061 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6L7.1 GenPept UniProtKB/Swiss-Prot:Q9Y6L7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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