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TNMD tenomodulin [ Homo sapiens (human) ]

Gene ID: 64102, updated on 11-Jun-2021

Summary

Official Symbol
TNMDprovided by HGNC
Official Full Name
tenomodulinprovided by HGNC
Primary source
HGNC:HGNC:17757
See related
Ensembl:ENSG00000000005 MIM:300459
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
TEM; CHM1L; BRICD4
Summary
This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009]
Expression
Biased expression in fat (RPKM 8.0), placenta (RPKM 1.2) and 2 other tissues See more
Orthologs
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Genomic context

See TNMD in Genome Data Viewer
Location:
Xq22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (100584936..100599885)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (99839933..99854882)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 8 Neighboring gene protocadherin 19 Neighboring gene uncharacterized LOC105373298 Neighboring gene tetraspanin 6

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to BMP stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in endothelial cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of endothelial cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tendon cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear envelope IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
tenomodulin
Names
BRICHOS domain containing 4
chondromodulin-1-like protein
chondromodulin-I-like protein
chondromodulin-IB
hChM1L
hTeM
myodulin
tendin

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_013266.2 RefSeqGene

    Range
    5144..20093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022144.3NP_071427.2  tenomodulin

    See identical proteins and their annotated locations for NP_071427.2

    Status: REVIEWED

    Source sequence(s)
    AB055421, AF191770, AF291656
    Consensus CDS
    CCDS14469.1
    UniProtKB/Swiss-Prot
    Q9H2S6
    Related
    ENSP00000362122.4, ENST00000373031.5
    Conserved Domains (1) summary
    smart01039
    Location:93186
    BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    100584936..100599885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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