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TMEM119 transmembrane protein 119 [ Homo sapiens (human) ]

Gene ID: 338773, updated on 23-Nov-2023

Summary

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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

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See TMEM119 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:108918373-108919572 Neighboring gene spliceosome associated factor 3, U4/U6 recycling protein Neighboring gene MPRA-validated peak1936 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6969 Neighboring gene iron-sulfur cluster assembly enzyme Neighboring gene ReSE screen-validated silencer GRCh37_chr12:108976096-108976273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108982554-108983282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108987423-108988089 Neighboring gene Sharpr-MPRA regulatory region 9141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6971 Neighboring gene uncharacterized LOC105369968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6972 Neighboring gene selectin P ligand Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4830 Neighboring gene microRNA 4496

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. Transmembrane protein TMEM119 facilitates the stemness of breast cancer cells by activating Wnt/β-catenin pathway. Yang B, et al. Bioengineered, 2021 Dec. PMID 34334123, Free PMC Article
  2. TMEM119 facilitates ovarian cancer cell proliferation, invasion, and migration via the PDGFRB/PI3K/AKT signaling pathway. Sun T, et al. J Transl Med, 2021 Mar 17. PMID 33731124, Free PMC Article
  3. TMEM119 as a specific marker of microglia reaction in traumatic brain injury in postmortem examination. Bohnert S, et al. Int J Legal Med, 2020 Nov. PMID 32719959, Free PMC Article
  4. Upregulation and biological function of transmembrane protein 119 in osteosarcoma. Jiang ZH, et al. Exp Mol Med, 2017 May 12. PMID 28496199, Free PMC Article
  5. TMEM119 marks a subset of microglia in the human brain. Satoh J, et al. Neuropathology, 2016 Feb. PMID 26250788

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
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
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
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

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
  
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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NEW Try the new Transcript table

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_181724.3 → NP_859075.2  transmembrane protein 119 precursor

    See identical proteins and their annotated locations for NP_859075.2

    Status: VALIDATED

    Source sequence(s)
    AL521683, BC096825, DC349145, ES311302
    Consensus CDS
    CCDS9119.1
    UniProtKB/Swiss-Prot
    Q4V9L6, Q6UXE5, Q8N2F5
    Related
    ENSP00000376553.3, ENST00000392806.4
    Conserved Domains (1) summary
    pfam15724
    Location:26 → 277
    TMEM119; TMEM119 family

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    108589851..108598084 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538271.3 → XP_011536573.1  transmembrane protein 119 isoform X1

    See identical proteins and their annotated locations for XP_011536573.1

    UniProtKB/Swiss-Prot
    Q4V9L6, Q6UXE5, Q8N2F5
    Conserved Domains (1) summary
    pfam15724
    Location:26 → 277
    TMEM119; TMEM119 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108564436..108572683 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371930.1 → XP_054227905.1  transmembrane protein 119 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4V9L6.1 GenPept UniProtKB/Swiss-Prot:Q4V9L6

Gene LinkOut

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

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