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TLL2 tolloid like 2 [ Homo sapiens (human) ]

Gene ID: 7093, updated on 30-Mar-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_012465.4NP_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:150349
    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:464573
    CUB; CUB domain
    pfam01400
    Location:157350
    Astacin; Astacin (Peptidase family M12A)
    pfam14670
    Location:736771
    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)