Aliases for TMEM219 Gene

Aliases for TMEM219 Gene

  • Transmembrane Protein 219 2 3 4 5
  • IGFBP-3R 2 3 4
  • Insulin-Like Growth Factor-Binding Protein 3 Receptor 3 4
  • Testicular Tissue Protein Li 203 3
  • TMEM219 5

External Ids for TMEM219 Gene

Previous GeneCards Identifiers for TMEM219 Gene

  • GC16P029880
  • GC16P029973
  • GC16P027634
  • GC16P029977
  • GC16P030005
  • GC16P030020
  • GC16P030060
  • GC16P029974

Summaries for TMEM219 Gene

GeneCards Summary for TMEM219 Gene

TMEM219 (Transmembrane Protein 219) is a Protein Coding gene. Diseases associated with TMEM219 include Hermansky-Pudlak Syndrome and Schizophrenia 3. Among its related pathways are TP53 Regulates Transcription of Cell Death Genes and Gene Expression. An important paralog of this gene is TMEM248.

UniProtKB/Swiss-Prot Summary for TMEM219 Gene

  • Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding.

Additional gene information for TMEM219 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM219 Gene

Genomics for TMEM219 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM219 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM219 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM219

Top Transcription factor binding sites by QIAGEN in the TMEM219 gene promoter:
  • AREB6
  • Cdc5
  • CHOP-10
  • GCNF
  • GCNF-1
  • GCNF-2
  • LUN-1
  • p53
  • Pax-3

Genomic Locations for TMEM219 Gene

Genomic Locations for TMEM219 Gene
chr16:29,940,885-29,973,050
(GRCh38/hg38)
Size:
32,166 bases
Orientation:
Plus strand
chr16:29,952,206-29,984,373
(GRCh37/hg19)
Size:
32,168 bases
Orientation:
Plus strand

Genomic View for TMEM219 Gene

Genes around TMEM219 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM219 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM219 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM219 Gene

Proteins for TMEM219 Gene

  • Protein details for TMEM219 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XT9-TM219_HUMAN
    Recommended name:
    Insulin-like growth factor-binding protein 3 receptor
    Protein Accession:
    Q86XT9
    Secondary Accessions:
    • D5FK14
    • Q8WVV8

    Protein attributes for TMEM219 Gene

    Size:
    240 amino acids
    Molecular mass:
    25724 Da
    Quaternary structure:
    • Interacts with IGFBP3. Interacts with CASP8.

neXtProt entry for TMEM219 Gene

Post-translational modifications for TMEM219 Gene

  • Glycosylation at Asn73, Asn101, and Asn167
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM219 Gene

Domains & Families for TMEM219 Gene

Gene Families for TMEM219 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM219 Gene

Suggested Antigen Peptide Sequences for TMEM219 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 219 (TM219_HUMAN)
genes like me logo Genes that share domains with TMEM219: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM219 Gene

Function for TMEM219 Gene

Molecular function for TMEM219 Gene

UniProtKB/Swiss-Prot Function:
Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding.

Phenotypes From GWAS Catalog for TMEM219 Gene

Gene Ontology (GO) - Molecular Function for TMEM219 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20353938
genes like me logo Genes that share ontologies with TMEM219: view
genes like me logo Genes that share phenotypes with TMEM219: view

Animal Models for TMEM219 Gene

MGI Knock Outs for TMEM219:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM219

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM219 Gene

Localization for TMEM219 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM219 Gene

Cell membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM219 gene
Compartment Confidence
plasma membrane 4
extracellular 3
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TMEM219 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM219: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM219 Gene

Pathways & Interactions for TMEM219 Gene

genes like me logo Genes that share pathways with TMEM219: view

Gene Ontology (GO) - Biological Process for TMEM219 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0042981 regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with TMEM219: view

No data available for SIGNOR curated interactions for TMEM219 Gene

Drugs & Compounds for TMEM219 Gene

No Compound Related Data Available

Transcripts for TMEM219 Gene

mRNA/cDNA for TMEM219 Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM219

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM219 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: -
SP2:
SP3: - - -
SP4:
SP5:

Relevant External Links for TMEM219 Gene

GeneLoc Exon Structure for
TMEM219

Expression for TMEM219 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM219 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM219 Gene

This gene is overexpressed in Placenta (37.4) and Pancreas (31.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM219 Gene



Protein tissue co-expression partners for TMEM219 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM219

SOURCE GeneReport for Unigene cluster for TMEM219 Gene:

Hs.460574

mRNA Expression by UniProt/SwissProt for TMEM219 Gene:

Q86XT9-TM219_HUMAN
Tissue specificity: Widely expressed in normal tissues but suppressed in prostate and breast tumor.

Evidence on tissue expression from TISSUES for TMEM219 Gene

  • Nervous system(4.7)
  • Lung(4.5)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with TMEM219: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM219 Gene

Orthologs for TMEM219 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TMEM219 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM219 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM219 30 31
  • 90.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM219 30 31
  • 89.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem219 30 17 31
  • 84.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem219 30
  • 83.54 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMEM219 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM219 31
  • 58 (a)
OneToOne
Species where no ortholog for TMEM219 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TMEM219 Gene

ENSEMBL:
Gene Tree for TMEM219 (if available)
TreeFam:
Gene Tree for TMEM219 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM219: view image

Paralogs for TMEM219 Gene

Paralogs for TMEM219 Gene

(1) SIMAP similar genes for TMEM219 Gene using alignment to 6 proteins:

  • TM219_HUMAN
  • H3BML8_HUMAN
  • I3L2J7_HUMAN
  • I3L2P0_HUMAN
  • I3L4B3_HUMAN
  • R4GNJ4_HUMAN
genes like me logo Genes that share paralogs with TMEM219: view

Variants for TMEM219 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM219 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
779013 Benign: not provided 29,968,109(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
784334 Benign: not provided 29,963,426(+) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TMEM219 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM219 Gene

Variant ID Type Subtype PubMed ID
esv29470 CNV loss 19812545
esv3638377 CNV loss 21293372

Variation tolerance for TMEM219 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM219 Gene

Human Gene Mutation Database (HGMD)
TMEM219
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM219

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM219 Gene

Disorders for TMEM219 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM219 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
schizophrenia 3
  • sczd3
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TMEM219: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM219 Gene

Publications for TMEM219 Gene

  1. Identification of a novel cell death receptor mediating IGFBP-3-induced anti-tumor effects in breast and prostate cancer. (PMID: 20353938) Ingermann AR … Oh Y (The Journal of biological chemistry 2010) 2 3 4
  2. Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. (PMID: 29427412) Zhou Y … Elias JA (Journal of immunology (Baltimore, Md. : 1950) 2018) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. IL-13Rα2 uses TMEM219 in chitinase 3-like-1-induced signalling and effector responses. (PMID: 27629921) Lee CM … Elias JA (Nature communications 2016) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for TMEM219 Gene

Sources for TMEM219 Gene