This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cel... See more...

Aliases for TMEM123 Gene

Aliases for TMEM123 Gene

  • Transmembrane Protein 123 2 3 4 5
  • KCT3 2 3 4
  • Pro-Oncosis Receptor Inducing Membrane Injury 3 4
  • PORIMIN 2 3
  • Porimin 3 4
  • KCT-3 3 4
  • Pro Oncosis Receptor Inducing Membrane Injury Gene 2
  • Keratinocytes Associated Transmembrane Protein 3 3
  • Keratinocytes-Associated Transmembrane Protein 3 4
  • Serine/Threonine-Rich Receptor 3
  • TMEM123 5
  • PORMIN 3

External Ids for TMEM123 Gene

Previous GeneCards Identifiers for TMEM123 Gene

  • GC11M101773
  • GC11M102267
  • GC11M098193

Summaries for TMEM123 Gene

Entrez Gene Summary for TMEM123 Gene

  • This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008]

GeneCards Summary for TMEM123 Gene

TMEM123 (Transmembrane Protein 123) is a Protein Coding gene. An important paralog of this gene is CD164.

UniProtKB/Swiss-Prot Summary for TMEM123 Gene

  • Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability.

Gene Wiki entry for TMEM123 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM123 Gene

Genomics for TMEM123 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM123 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 TMEM123 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM123

Top Transcription factor binding sites by QIAGEN in the TMEM123 gene promoter:
  • AREB6
  • c-Myb
  • E47
  • HNF-3beta
  • HSF1 (long)
  • HSF1short
  • Lmo2
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for TMEM123 Gene

Genomic Locations for TMEM123 Gene
chr11:102,396,332-102,470,384
(GRCh38/hg38)
Size:
74,053 bases
Orientation:
Minus strand
chr11:102,267,056-102,341,115
(GRCh37/hg19)
Size:
74,060 bases
Orientation:
Minus strand

Genomic View for TMEM123 Gene

Genes around TMEM123 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM123 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM123 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM123 Gene

Proteins for TMEM123 Gene

  • Protein details for TMEM123 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N131-PORIM_HUMAN
    Recommended name:
    Porimin
    Protein Accession:
    Q8N131
    Secondary Accessions:
    • Q8IWS2
    • Q96QV2

    Protein attributes for TMEM123 Gene

    Size:
    208 amino acids
    Molecular mass:
    21531 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM123 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM123 Gene

Post-translational modifications for TMEM123 Gene

  • Glycosylation at Asn64, Asn46, Asn68, Asn50, Asn83, Asn96, Asn106, Asn124, and Asn138
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM123 Gene

No data available for DME Specific Peptides for TMEM123 Gene

Domains & Families for TMEM123 Gene

Gene Families for TMEM123 Gene

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

Protein Domains for TMEM123 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM123 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 123 (PORIM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N131

UniProtKB/Swiss-Prot:

PORIM_HUMAN :
  • Belongs to the CD164 family.
Family:
  • Belongs to the CD164 family.
genes like me logo Genes that share domains with TMEM123: view

Function for TMEM123 Gene

Molecular function for TMEM123 Gene

UniProtKB/Swiss-Prot Function:
Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability.

Phenotypes From GWAS Catalog for TMEM123 Gene

Gene Ontology (GO) - Molecular Function for TMEM123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0038023 signaling receptor activity NAS 9600958
genes like me logo Genes that share ontologies with TMEM123: view
genes like me logo Genes that share phenotypes with TMEM123: view

Animal Models for TMEM123 Gene

MGI Knock Outs for TMEM123:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM123

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM123

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM123 Gene

Localization for TMEM123 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM123 Gene

Membrane. Single-pass type I 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 TMEM123 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
cytosol 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IDA 9600958
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 11481458
GO:0031410 cytoplasmic vesicle IBA 21873635
genes like me logo Genes that share ontologies with TMEM123: view

Pathways & Interactions for TMEM123 Gene

PathCards logo

SuperPathways for TMEM123 Gene

No Data Available

Interacting Proteins for TMEM123 Gene

Gene Ontology (GO) - Biological Process for TMEM123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070267 oncosis IDA 9600958
genes like me logo Genes that share ontologies with TMEM123: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM123 Gene

Drugs & Compounds for TMEM123 Gene

No Compound Related Data Available

Transcripts for TMEM123 Gene

mRNA/cDNA for TMEM123 Gene

1 REFSEQ mRNAs :
12 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 TMEM123

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM123 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5: - - - - - - - -
SP6: - - - -
SP7:
SP8: -

Relevant External Links for TMEM123 Gene

GeneLoc Exon Structure for
TMEM123

Expression for TMEM123 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM123 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM123 Gene

This gene is overexpressed in Nasal epithelium (36.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM123 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM123

SOURCE GeneReport for Unigene cluster for TMEM123 Gene:

Hs.503709

mRNA Expression by UniProt/SwissProt for TMEM123 Gene:

Q8N131-PORIM_HUMAN
Tissue specificity: Ubiquitous. Not expressed in ovary. Expressed in keratinocytes.

Evidence on tissue expression from TISSUES for TMEM123 Gene

  • Heart(5)
  • Nervous system(4.3)
  • Liver(3.8)
  • Skin(3.7)
  • Lung(3.4)
  • Intestine(2.4)
  • Thyroid gland(2.3)
  • Blood(2.1)
  • Lymph node(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with TMEM123: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM123 Gene

Orthologs for TMEM123 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM123 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM123 30 31
  • 98.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem123 30 17 31
  • 68.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem123 30
  • 68.06 (n)
Dog
(Canis familiaris)
Mammalia TMEM123 31
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM123 31
  • 47 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM123 31
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM123 31
  • 33 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM123 31
  • 27 (a)
OneToOne
Species where no ortholog for TMEM123 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • 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)
  • 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 TMEM123 Gene

ENSEMBL:
Gene Tree for TMEM123 (if available)
TreeFam:
Gene Tree for TMEM123 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM123: view image

Paralogs for TMEM123 Gene

Paralogs for TMEM123 Gene

genes like me logo Genes that share paralogs with TMEM123: view

Variants for TMEM123 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM123 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11547915 - p.Val86Phe
rs12288849 - p.Ala158Thr
rs2155587 - p.Val71Met

Additional dbSNP identifiers (rs#s) for TMEM123 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM123 Gene

Variant ID Type Subtype PubMed ID
dgv2134n54 CNV loss 21841781
dgv2135n54 CNV loss 21841781
esv22282 CNV loss 19812545
esv2667796 CNV deletion 23128226
esv2677610 CNV deletion 23128226
esv2744989 CNV deletion 23290073
esv2744990 CNV deletion 23290073
esv3548258 CNV deletion 23714750
esv3627526 CNV loss 21293372
esv3627527 CNV loss 21293372
nsv556145 CNV loss 21841781

Variation tolerance for TMEM123 Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM123 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM123

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM123 Gene

Disorders for TMEM123 Gene

No disorders were found for TMEM123 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM123 Gene

Publications for TMEM123 Gene

  1. Molecular cloning of Porimin, a novel cell surface receptor mediating oncotic cell death. (PMID: 11481458) Ma F … Schlossman SF (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 23
  2. FUT11 as a potential biomarker of clear cell renal cell carcinoma progression based on meta-analysis of gene expression data. (PMID: 24318988) Zodro E … Wesoly J (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2014) 2 3
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4

Products for TMEM123 Gene

  • Signalway Proteins for TMEM123

Sources for TMEM123 Gene