TNMD tenomodulin [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNMDprovided by HGNC
Official Full Name: tenomodulinprovided by HGNC
Primary source: HGNC:HGNC:17757
See related: Ensembl:ENSG00000000005 MIM:300459; AllianceGenome:HGNC:17757
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: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (100584936..100599885)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99027366..99042315)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (99839933..99854882)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associations between the TNMD rs4828038 and ACE2 rs879922 polymorphisms and preeclampsia susceptibility: a case-control study.
Title: Associations between the TNMD rs4828038 and ACE2 rs879922 polymorphisms and preeclampsia susceptibility: a case-control study.
Loss of tenomodulin expression is a risk factor for age-related intervertebral disc degeneration.
Title: Loss of tenomodulin expression is a risk factor for age-related intervertebral disc degeneration.
our study demonstrates that Tnmd is required for proper tendon tissue adaptation to endurance running and aids in better understanding of the structural-functional relationships of tendon tissues.
Title: Tenomodulin is Required for Tendon Endurance Running and Collagen I Fibril Adaptation to Mechanical Load.
TNMD is upregulated in adipose tissue of insulin-resistant versus insulin-sensitive individuals. TNMD expression increases in human preadipocytes during differentiation, whereas silencing TNMD blocks adipogenesis.
Title: Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion.
results suggest that Tnmd acts on the maturation or maintenance of the PDL by positively regulating cell adhesion via its BRICHOS domain
Title: Tenomodulin expression in the periodontal ligament enhances cellular adhesion.
Report differential expression and cellular localization of novel isoforms of the tendon biomarker tenomodulin and suggest possible roles in tenocyte proliferation and tendon injury.
Title: Differential expression and cellular localization of novel isoforms of the tendon biomarker tenomodulin.
According to these results the sequence variation of TNMD is not associated with alzheimer disease, but might modify the effect of APOE epsilon4-allele in women.
Title: Tenomodulin variants, APOE and Alzheimer's disease in a Finnish case-control cohort.
Human adipose tissue TNMD gene expression is highly affected by obesity, adipose tissue location, and weight loss, indicating that TNMD may play a role in adipose tissue function.
Title: Tenomodulin is highly expressed in adipose tissue, increased in obesity, and down-regulated during diet-induced weight loss.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Tenomodulin variants, APOE and Alzheimer's disease in a Finnish case-control cohort.
TNMD could be a novel candidate gene for age-related macular degeneration.
Title: Single nucleotide polymorphisms of the tenomodulin gene (TNMD) in age-related macular degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480988

DXS7679 (e-PCR)
- UniSTS:3810

DXS7735 (e-PCR)
- UniSTS:27647

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 endothelial cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of endothelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info

General protein information

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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.