Gene Gene information from NCBI Gene database.
Entrez ID 114908
Gene name Transmembrane protein 123
Gene symbol TMEM123
Synonyms (NCBI Gene)
KCT3PORIMINPORMIN
Chromosome 11
Chromosome location 11q22.2
Summary 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 (p
miRNA miRNA information provided by mirtarbase database.
714
miRTarBase ID miRNA Experiments Reference
MIRT016219 hsa-miR-590-3p Sequencing 20371350
MIRT439443 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT439442 hsa-miR-155-5p HITS-CLIP 22473208
MIRT439441 hsa-miR-205-5p HITS-CLIP 22473208
MIRT439440 hsa-miR-20a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 28514442, 32296183, 32814053, 33961781
GO:0009897 Component External side of plasma membrane IDA 9600958
GO:0016020 Component Membrane IEA
GO:0016020 Component Membrane NAS 11481458
GO:0031410 Component Cytoplasmic vesicle IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606356 30138 ENSG00000152558
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N131
Protein name Porimin (Keratinocytes-associated transmembrane protein 3) (KCT-3) (Pro-oncosis receptor inducing membrane injury) (Transmembrane protein 123)
Protein function Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05283 MGC-24 96 201 Multi-glycosylated core protein 24 (MGC-24), sialomucin Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Not expressed in ovary. Expressed in keratinocytes. {ECO:0000269|PubMed:11481458, ECO:0000269|PubMed:12752121}.
Sequence
MGLGARGAWAALLLGTLQVLALLGAAHESAAMAASANIENSGLPHNSSANSTETLQHVPS
DHTNETSNSTVKPPTSVASDSSNTTVTTMKPTAASNTTTPGMVSTNMTSTTLKSTPKTTS
VSQNTSQISTSTMTVTHNSSVTSAASSVTITTTMHSEAKKGSKFDTGSFVGGIVLTLGVL
SILYIGCKMYYSRRGIRYRTI
DEHDAII
Sequence length 208
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations