TMEM119 transmembrane protein 119 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM119provided by HGNC
Official Full Name: transmembrane protein 119provided by HGNC
Primary source: HGNC:HGNC:27884
See related: Ensembl:ENSG00000183160 MIM:618989; AllianceGenome:HGNC:27884
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
Also known as: OBIF
Summary: Involved in positive regulation of bone mineralization; positive regulation of osteoblast differentiation; and positive regulation of osteoblast proliferation. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in gall bladder (RPKM 16.3), lymph node (RPKM 16.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (108589851..108598084, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (108564436..108572683, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (108983627..108991860, complement)

Chromosome 12 - NC_000012.12 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
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?

TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis.
Title: TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis.
Transmembrane protein TMEM119 facilitates the stemness of breast cancer cells by activating Wnt/beta-catenin pathway.
Title: Transmembrane protein TMEM119 facilitates the stemness of breast cancer cells by activating Wnt/β-catenin pathway.
TMEM119 facilitates ovarian cancer cell proliferation, invasion, and migration via the PDGFRB/PI3K/AKT signaling pathway.
Title: TMEM119 facilitates ovarian cancer cell proliferation, invasion, and migration via the PDGFRB/PI3K/AKT signaling pathway.
TMEM119 as a specific marker of microglia reaction in traumatic brain injury in postmortem examination.
Title: TMEM119 as a specific marker of microglia reaction in traumatic brain injury in postmortem examination.
Regulation of microglial TMEM119 and P2RY12 immunoreactivity in multiple sclerosis white and grey matter lesions is dependent on their inflammatory environment.
Title: Regulation of microglial TMEM119 and P2RY12 immunoreactivity in multiple sclerosis white and grey matter lesions is dependent on their inflammatory environment.
TMEM119 expression in osteosarcoma tissues is positively correlated with cell cycle, apoptosis, metastasis and TGF-beta signaling.
Title: Upregulation and biological function of transmembrane protein 119 in osteosarcoma.
TMEM119 serves as a reliable microglial marker that discriminates resident microglia from blood-derived macrophages in the human brain
Title: TMEM119 marks a subset of microglia in the human brain.
qPCR showed that TMEM119 expression was highly enriched in temporal lobe CD11b+ cells over unpurified whole brain, and barely detectable in peripheral blood leukocytes.
Title: New tools for studying microglia in the mouse and human CNS.

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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 study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH92385 (e-PCR)
- UniSTS:91918

NoName (e-PCR)
- UniSTS:488160

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in endochondral ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of myotube differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone mineralization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of osteoblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of osteoblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane protein 119

Names: osteoblast induction factor

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.