POSTN

gene
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Also known as OSF-2PNperiostin

Summary

POSTN (periostin, HGNC:16953) is a protein-coding gene on chromosome 13q13.3, encoding Periostin (Q15063). Induces cell attachment and spreading and plays a role in cell adhesion.

This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 10631 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 142 total
  • MANE Select transcript: NM_006475

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16953
Approved symbolPOSTN
Nameperiostin
Location13q13.3
Locus typegene with protein product
StatusApproved
AliasesOSF-2, PN, periostin
Ensembl geneENSG00000133110
Ensembl biotypeprotein_coding
OMIM608777
Entrez10631

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000379742, ENST00000379743, ENST00000379747, ENST00000379749, ENST00000473823, ENST00000474646, ENST00000478947, ENST00000497145, ENST00000541179, ENST00000541481, ENST00000855908, ENST00000855909, ENST00000855910, ENST00000855911, ENST00000855912, ENST00000855913, ENST00000855914, ENST00000855915, ENST00000953168, ENST00000953169, ENST00000953170

RefSeq mRNA: 11 — MANE Select: NM_006475 NM_001135934, NM_001135935, NM_001135936, NM_001286665, NM_001286666, NM_001286667, NM_001330517, NM_001424172, NM_001424173, NM_001424174, NM_006475

CCDS: CCDS45034, CCDS53864, CCDS66530, CCDS66531, CCDS81764, CCDS9364

Canonical transcript exons

ENST00000379747 — 23 exons

ExonStartEnd
ENSE000006808753759037237590529
ENSE000008171583758782237587986
ENSE000009074413757986137579991
ENSE000009074423758056137580697
ENSE000009074433758236637582514
ENSE000009074443758396937584103
ENSE000009074453758471637584928
ENSE000009074463758613937586280
ENSE000009074473758678237586928
ENSE000009074483759210037592164
ENSE000009074493759718437597282
ENSE000010939613757901937579121
ENSE000010939773757058037570669
ENSE000010939833757775337577798
ENSE000010939873757922937579359
ENSE000010939913757884437578911
ENSE000010939963757136937571458
ENSE000010939983757457237574652
ENSE000018924823756258537563370
ENSE000034596883756451937564560
ENSE000036376113756930037569383
ENSE000036631663756974437569821
ENSE000038505923759860837598768

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 134.6556 / max 5568.6802, expressed in 988 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter IDTPM avgSamples expressed
136855133.3127979
1368430.5452191
1368270.2880125
1368420.204893
1368230.129776
1368260.100451
1368570.04957
1368290.02139
1368560.00403

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
periodontal ligamentUBERON:000826699.96gold quality
visceral pleuraUBERON:000240199.77gold quality
skin of hipUBERON:000155499.75gold quality
cartilage tissueUBERON:000241899.72gold quality
mucosa of paranasal sinusUBERON:000503099.71gold quality
upper leg skinUBERON:000426299.66gold quality
pylorusUBERON:000116699.33gold quality
upper arm skinUBERON:000426398.89gold quality
descending thoracic aortaUBERON:000234598.85gold quality
pleuraUBERON:000097798.81gold quality
blood vessel layerUBERON:000479798.59gold quality
mammary ductUBERON:000176598.39gold quality
parietal pleuraUBERON:000240098.39gold quality
cardia of stomachUBERON:000116298.24gold quality
deciduaUBERON:000245098.14gold quality
cauda epididymisUBERON:000436097.82gold quality
epithelium of mammary glandUBERON:000324497.52gold quality
mucosa of sigmoid colonUBERON:000499397.51gold quality
adrenal tissueUBERON:001830397.47gold quality
left coronary arteryUBERON:000162697.41gold quality
thoracic aortaUBERON:000151597.38gold quality
smooth muscle tissueUBERON:000113597.32gold quality
rectumUBERON:000105297.30gold quality
ascending aortaUBERON:000149697.29gold quality
right coronary arteryUBERON:000162597.25gold quality
right uterine tubeUBERON:000130297.22gold quality
mammary glandUBERON:000191197.19gold quality
thoracic mammary glandUBERON:000520097.19gold quality
skin of abdomenUBERON:000141697.18gold quality
zone of skinUBERON:000001497.11gold quality

Single-cell (SCXA)

Detected in 22 experiment(s), a significant marker in 21.

ExperimentMarker?Max mean expression
E-HCAD-10yes5762.76
E-ANND-2yes5513.15
E-MTAB-10596yes4695.84
E-MTAB-6701yes3907.27
E-HCAD-11yes3519.40
E-MTAB-7407yes3356.83
E-MTAB-7249yes2696.90
E-MTAB-9388yes2038.18
E-MTAB-10485yes1974.90
E-GEOD-124472yes1142.19
E-HCAD-56yes749.38
E-GEOD-180759yes580.94
E-HCAD-13yes484.58
E-MTAB-8142yes112.76
E-MTAB-8410yes43.25

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, BHLHA15, BMPR1A, BMPR2, CDX1, EBF1, FOS, FOSL1, HAND2, ID1, JUN, JUNB, JUND, TWIST1, TWIST2, YY1

miRNA regulators (miRDB)

43 targeting POSTN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-480399.9871.993117
HSA-MIR-56899.9869.862084
HSA-MIR-1213699.9872.815713
HSA-MIR-19A-3P99.9875.332762
HSA-MIR-19B-3P99.9875.442754
HSA-MIR-807599.9767.20962
HSA-MIR-6772-5P99.9467.01577
HSA-MIR-6809-3P99.9171.453814
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-202-3P99.8471.411290
HSA-MIR-684499.8270.692423
HSA-MIR-432099.7565.80793
HSA-MIR-1213099.7565.47452
HSA-MIR-430699.7270.503630
HSA-MIR-545-5P99.6670.182308
HSA-MIR-58699.6570.402051
HSA-MIR-425-5P99.5967.67900
HSA-MIR-6758-3P99.5767.551078
HSA-MIR-5571-5P99.4966.991764
HSA-MIR-582-5P99.4770.792635
HSA-MIR-608399.4768.732393
HSA-MIR-4762-3P99.4369.722363
HSA-MIR-103A-1-5P99.3967.781545
HSA-MIR-103A-2-5P99.3967.721577
HSA-MIR-584-3P99.3567.691082
HSA-MIR-185-5P99.3568.602497
HSA-MIR-464499.3569.122514
HSA-MIR-6507-3P99.3567.321059
HSA-MIR-296-3P99.2166.56474
HSA-MIR-140-3P99.0467.691324

Literature-anchored findings (GeneRIF, showing 40)

  • Periostin secreted by epithelial ovarian carcinoma is a ligand for alpha(V)beta(3) and alpha(V)beta(5) integrins and promotes cell motility. (PMID:12235007)
  • Data suggest that periostin-mediated angiogenesis derives in part from the up-regulation of the vascular endothelial growth factor receptor Flk-1/KDR by endothelial cells through an integrin alpha(v)beta(3)-focal adhesion kinase signaling pathway. (PMID:15082792)
  • Over expression of Periostin promotes metastatic growth of colon cancer by augmenting cell survival via the Akt/PKB pathway (PMID:15093540)
  • Downregulation of periostin is associated with higher grade bladder cancer (PMID:15880581)
  • Expression of OSF-2 is likely to play a role in the pathogenesis of nasopharyngeal carcinoma. (PMID:16136586)
  • periostin has an active role in the epithelial-mesenchymal transformation and metastasis that requires cross-talk between integrin and EGFR signaling pathways (PMID:16702213)
  • Although a major effect of the SNPs in the POSTN geneson breast cancer susceptibility and prognosis was excluded, the effect of the POSTN C-33G SNP on prognosis needs further characterization. (PMID:16807673)
  • periostin is a gene highly overexpressed in breast cancer cells and is correlated with poor outcome in a cohort of poor prognosis estrogen receptor-positive tumours. (PMID:17014703)
  • These findings suggest an important role of periostin in pancreatic cancer. (PMID:17043657)
  • Periostin is frequently overexpressed and enhances invasion and angiogenesis in oral cancer (PMID:17060937)
  • Periostin expression is increased in keloids. (PMID:17649947)
  • Periostin was overexpressed in gastric cancer and lymph node metastasis, which suggests that periostin plays an important role in the progression and metastasis of gastric cancer. (PMID:17876898)
  • identifies both stromal and melanoma cells as sources of periostin production and correlates POSTN expression levels with increased primary tumor thickness and metastatic process development (PMID:18086302)
  • loss of WT periostin by down-regulation and/or alternative splicing, which produces Variant I, is closely correlated with the development of bladder cancer. (PMID:18097555)
  • Periostin protein expression was abundant in the infarct border of human hearts with acute myocardial infarction (AMI), and it is essential for cardiac healing after AMI. (PMID:18208976)
  • The expression of periostin/OSF-2 is regulated by ovarian steroid hormones in rat uterus and human endometrium. (PMID:18270434)
  • induced expression of periostin (to 150 ng/ml) altered the morphology of cancer cells, changing them from mesenchymal to epithelial phenotypes with the induction of epithelial markers and a reduction of mesenchymal markers (PMID:18381746)
  • High periostin expression correlates with aggressiveness in papillary thyroid carcinomas. (PMID:18434370)
  • Periostin is secreted by pericryptal and cancer-associated fibroblasts in the colon, both of which support the growth of epithelial components (PMID:18443362)
  • periostin is a member of a vitamin K-dependent gamma-carboxylated protein family characterized by the presence of fasciclin domains; carboxylated periostin is produced by bone-derived mesenchymal cells and is found in mineralized bone nodules in vitro (PMID:18450759)
  • periostin is a component of BM fibrosis and that it may play a role in the disease progression. (PMID:18465194)
  • Periostin deposits in the stroma of invasive and intraductal neoplasms of the pancreas. (PMID:18487994)
  • The expression of periostin was increased in the fibroblasts of hyperplasic scars. (PMID:18560459)
  • Periostin is a novel autocrine mitogen secreted by mural epithelial cells with the potential to accelerate cyst growth and promote interstitial remodeling in autosomal dominant polycystic kidney disease. (PMID:18753297)
  • expression of periostin in normal bones & in fibrous dysplasia; studies revealed periostin was expressed in the extracellular matrix during intramembranous but not endochondral ossification & in the fibrous component of fibrous dysplasia (PMID:18799196)
  • periostin has a role in tumor progression and a worse prognosis in NSCLC, as well as with angiogenesis and lymphangiogenesis (PMID:18949745)
  • Overexpression of recombinant human periostin in rat cardiomyocytes and fibroblasts did not affect mitosis, DNA synthesis, or cell cycle. (PMID:19038863)
  • periostin-null mice had a specific defect in allergen-induced eosinophil recruitment to the lungs and esophagus (66 and 72% decrease, respectively). Mechanistic analyses revealed that periostin increased (5.8-fold) eosinophil adhesion to fibronectin. (PMID:19079190)
  • highly overexpressed in eosinophilic esophagitis patients compared with control biopsy samples, correlates with eosinophil numbers in the biopsies (PMID:19141349)
  • periostin could be a candidate gene for therapeutic targeting for the blockage of papillary thyroid carcinoma tumor invasion. (PMID:19321256)
  • periostin promoted the survival of A549 non-small-cell lung cancer cells under hypoxic microenvironment via activation of Akt/PKB pathway (PMID:19328625)
  • Sequence analysis revealed two non-functional polymorphisms in the POSTN gene and no other sequence variations in the remaining candidate genes. (PMID:19419450)
  • Findings suggest that TGFBI and periostin may play cooperative cellular roles and that periostin may be involved in the pathogenesis of 5q31-linked corneal dystrophies. (PMID:19478074)
  • overexpressed in breast cancer tissues (PMID:19524268)
  • periostin is involved in the suppression of cell invasiveness via the TAB1/TAK1 signaling pathway. (PMID:19578758)
  • Periostin, secreted by disease cord myofibroblasts into the extra-cellular matrix, promotes the transition of resident fibroblasts in the palmar fascia toward a myofibroblast phenotype, thereby promoting disease progression. (PMID:19619531)
  • Periostin is a novel molecular which play an important role during the progression and development of non-small cell lung cancer . (PMID:19688273)
  • Periostin mediates vascular smooth muscle cell migration through the integrins alphavbeta3 and alphavbeta5 and focal adhesion kinase (FAK) pathway (PMID:19695571)
  • Here we show that periostin, a matricellular protein, promotes incorporation of tenascin-C into the extracellular matrix and organizes a meshwork architecture of the extracellular matrix. (PMID:19887451)
  • Periostin, a useful marker of the noncardiomyocyte lineages, and its role during cardiac morphogenesis. (PMID:19893021)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriopostnaENSDARG00000043806
danio_reriopostnbENSDARG00000104267
mus_musculusPostnENSMUSG00000027750
rattus_norvegicusPostnENSRNOG00000012660
drosophila_melanogasterFas1FBGN0285925
caenorhabditis_elegansF26E4.7WBGENE00009162

Paralogs (1): TGFBI (ENSG00000120708)

Protein

Protein identifiers

PeriostinQ15063 (reviewed: Q15063)

Alternative names: Osteoblast-specific factor 2

All UniProt accessions (1): Q15063

UniProt curated annotations — full annotation on UniProt →

Function. Induces cell attachment and spreading and plays a role in cell adhesion. Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX.

Subunit / interactions. Homodimer. Interacts with BMP1 and fibronectin.

Subcellular location. Golgi apparatus. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Widely expressed with highest levels in aorta, stomach, lower gastrointestinal tract, placenta, uterus, thyroid tissue and breast. Expressed in the kidney. Expressed in the lung. Up-regulated in epithelial ovarian tumors. Not expressed in normal ovaries. Also highly expressed at the tumor periphery of lung carcinoma tissue but not within the tumor. Overexpressed in breast cancers.

Post-translational modifications. Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; this may be required for calcium binding. According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues.

Isoforms (10)

UniProt IDNamesCanonical?
Q15063-11, OSF-2OSyes
Q15063-22, OSF-2p1
Q15063-33
Q15063-44
Q15063-55
Q15063-66
Q15063-77
Q15063-88
Q15063-99
Q15063-1010

RefSeq proteins (11): NP_001129406, NP_001129407, NP_001129408, NP_001273594, NP_001273595, NP_001273596, NP_001317446, NP_001411101, NP_001411102, NP_001411103, NP_006466* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000782FAS1_domainDomain
IPR011489EMI_domainDomain
IPR016666TGFBI/POSTNFamily
IPR036378FAS1_dom_sfHomologous_superfamily
IPR050904Adhesion/Biosynth-relatedFamily

Pfam: PF02469

UniProt features (93 total): strand 34, helix 32, disulfide bond 5, splice variant 5, domain 5, sequence variant 2, mutagenesis site 2, sequence conflict 2, turn 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1

Structure

Experimental structures (PDB)

3 structures.

PDBMethodResolution (Å)
5YJGX-RAY DIFFRACTION2.4
5YJHX-RAY DIFFRACTION2.96
5WT7SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q15063-F180.250.71

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 60

Disulfide bonds (5): 69–333, 79–92, 208–311, 467–472, 44–80

Glycosylation sites (1): 599

Mutagenesis-validated functional residues (2):

PositionPhenotype
60no effect on homodimerization.
463–465loss of homodimerization.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 242 (showing top): TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, PAL_PRMT5_TARGETS_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, LIEN_BREAST_CARCINOMA_METAPLASTIC, chr13q13, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_4NM_UP, MAHAJAN_RESPONSE_TO_IL1A_DN, BROWNE_HCMV_INFECTION_48HR_DN, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, GERY_CEBP_TARGETS, GOCC_TRANS_GOLGI_NETWORK, WOO_LIVER_CANCER_RECURRENCE_UP, LU_TUMOR_VASCULATURE_UP

GO Biological Process (19): response to hypoxia (GO:0001666), negative regulation of cell-matrix adhesion (GO:0001953), regulation of systemic arterial blood pressure (GO:0003073), cell adhesion (GO:0007155), regulation of Notch signaling pathway (GO:0008593), response to mechanical stimulus (GO:0009612), tissue development (GO:0009888), response to muscle activity (GO:0014850), positive regulation of smooth muscle cell migration (GO:0014911), extracellular matrix organization (GO:0030198), response to estradiol (GO:0032355), cellular response to fibroblast growth factor stimulus (GO:0044344), cellular response to vitamin K (GO:0071307), cellular response to tumor necrosis factor (GO:0071356), cellular response to transforming growth factor beta stimulus (GO:0071560), negative regulation of substrate adhesion-dependent cell spreading (GO:1900025), neuron projection extension (GO:1990138), bone regeneration (GO:1990523), positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)

GO Molecular Function (5): heparin binding (GO:0008201), metal ion binding (GO:0046872), cell adhesion molecule binding (GO:0050839), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (6): obsolete extracellular space (GO:0005615), trans-Golgi network (GO:0005802), extracellular matrix (GO:0031012), neuromuscular junction (GO:0031594), extracellular region (GO:0005576), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
negative regulation of cell-substrate adhesion2
cellular response to growth factor stimulus2
response to stress1
response to decreased oxygen levels1
regulation of cell-matrix adhesion1
cell-matrix adhesion1
regulation of blood pressure1
cellular process1
Notch signaling pathway1
regulation of signal transduction1
response to external stimulus1
response to abiotic stimulus1
anatomical structure development1
response to activity1
smooth muscle cell migration1
regulation of smooth muscle cell migration1
positive regulation of cell migration1
extracellular structure organization1
external encapsulating structure organization1
response to lipid1
response to oxygen-containing compound1
response to fibroblast growth factor1
response to vitamin K1
cellular response to vitamin1
cellular response to ketone1
response to tumor necrosis factor1
cellular response to cytokine stimulus1
response to transforming growth factor beta1
substrate adhesion-dependent cell spreading1
regulation of substrate adhesion-dependent cell spreading1
developmental cell growth1
neuron projection morphogenesis1
developmental growth involved in morphogenesis1
tissue regeneration1
positive regulation of chemokine production1
chemokine (C-X-C motif) ligand 2 production1
regulation of chemokine (C-X-C motif) ligand 2 production1
glycosaminoglycan binding1
sulfur compound binding1
cation binding1

Protein interactions and networks

STRING

3566 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
POSTNFN1P02751995
POSTNBMP1P13497982
POSTNNOTCH1P46531970
POSTNCLCA1A8K7I4898
POSTNCOL3A1P02461886
POSTNSERPINB2P05120853
POSTNCOL1A2P02464826
POSTNPTK7Q13308812
POSTNLUMP51884806
POSTNWNT3AP56704790
POSTNIL13P35225788
POSTNCOL1A1P02452783
POSTNTGFB1P01137779
POSTNWNT1P04628776
POSTNFBLN2P98095761

IntAct

23 interactions, top by confidence:

ABTypeScore
TGFBIPOSTNpsi-mi:“MI:0915”(physical association)0.560
POSTNTGFBIpsi-mi:“MI:0915”(physical association)0.560
TGFBIPOSTNpsi-mi:“MI:0403”(colocalization)0.560
POSTNTGFBIpsi-mi:“MI:0403”(colocalization)0.560
POSTNTrappc2psi-mi:“MI:0915”(physical association)0.370
TRAPPC2LPOSTNpsi-mi:“MI:0915”(physical association)0.370
ILKELOCpsi-mi:“MI:0914”(association)0.350
MTMR14ACSL4psi-mi:“MI:0914”(association)0.350
ATF3TMEM223psi-mi:“MI:0914”(association)0.350
CASP3TMEM223psi-mi:“MI:0914”(association)0.350
CEBPDESYT2psi-mi:“MI:0914”(association)0.350
CTNNA1MYO1Gpsi-mi:“MI:0914”(association)0.350
FOSTMEM223psi-mi:“MI:0914”(association)0.350
GATA2C11orf98psi-mi:“MI:0914”(association)0.350
MYBIGF2BP3psi-mi:“MI:0914”(association)0.350
CDH5MYO1Cpsi-mi:“MI:2364”(proximity)0.270
TMEM231POSTNpsi-mi:“MI:0915”(physical association)0.000
POSTNMKS1psi-mi:“MI:0915”(physical association)0.000
POSTNB9D1psi-mi:“MI:0915”(physical association)0.000

BioGRID (11): POSTN (Affinity Capture-MS), POSTN (Affinity Capture-MS), MKS1 (Affinity Capture-MS), B9D1 (Affinity Capture-MS), POSTN (Affinity Capture-MS), POSTN (Proximity Label-MS), LRRIQ1 (Cross-Linking-MS (XL-MS)), POSTN (Affinity Capture-RNA), SEC61A1 (Co-fractionation), POSTN (Cross-Linking-MS (XL-MS)), POSTN (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A8M9PFP2, A1XQY1, A2A863, A2VE29, B0S5G3, D3YXG0, I2C090, O11780, P02786, P06684, P08650, P10674, P10675, P16144, P19827, P55906, P56652, P82198, P97278, P97280, Q06033, Q0VCM5, Q15063, Q15582, Q28146, Q29052, Q2V905, Q5R9Q9, Q5RDH6, Q61702, Q62009, Q63372, Q64632, Q8BJD1, Q8CFM6, Q8R4U0, Q8R4Y4, Q8R553, Q8VDA1, Q8WWQ8

Diamond homologs: C1AFY9, O11780, O33752, P0A669, P0CAX7, P55906, P73392, P74615, P82198, P9WNF2, P9WNF3, P9WNF4, P9WNF5, Q15063, Q15582, Q49614, Q95215, Q62009, D4B388, Q8CFM6, Q8LEJ6, Q8R4U0, Q8R4Y4, Q8WWQ8, Q9NY15, O08859, P03994, P07354, P07897, P07898, P13608, P16112, P41725, P55068, P98065, P98066, Q28062, Q28343, Q28381, Q28670

SIGNOR signaling

1 interactions.

AEffectBMechanism
YY1“down-regulates quantity by repression”POSTN“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

142 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance108
Likely benign6
Benign4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3097 predictions. Top by Δscore:

VariantEffectΔscore
13:37569724:ATTTT:Adonor_gain1.0000
13:37577751:A:ACdonor_gain1.0000
13:37577752:C:CCdonor_gain1.0000
13:37577795:CAAA:Cacceptor_gain1.0000
13:37577799:C:CCacceptor_gain1.0000
13:37579118:TTACC:Tacceptor_loss1.0000
13:37579119:TACCT:Tacceptor_loss1.0000
13:37579123:T:Aacceptor_loss1.0000
13:37579222:AACTT:Adonor_loss1.0000
13:37579223:ACTTA:Adonor_loss1.0000
13:37579224:CTT:Cdonor_loss1.0000
13:37579225:TTA:Tdonor_loss1.0000
13:37579226:TA:Tdonor_loss1.0000
13:37579227:A:ACdonor_gain1.0000
13:37579227:ACT:Adonor_loss1.0000
13:37579227:ACTT:Adonor_gain1.0000
13:37579228:C:Adonor_loss1.0000
13:37579228:C:CAdonor_gain1.0000
13:37579228:CT:Cdonor_gain1.0000
13:37579228:CTT:Cdonor_gain1.0000
13:37579228:CTTC:Cdonor_gain1.0000
13:37579228:CTTCT:Cdonor_gain1.0000
13:37579230:T:TAdonor_gain1.0000
13:37579250:T:TAdonor_gain1.0000
13:37579356:TCCC:Tacceptor_gain1.0000
13:37579357:CCC:Cacceptor_gain1.0000
13:37579357:CCCC:Cacceptor_gain1.0000
13:37579358:CC:Cacceptor_gain1.0000
13:37579358:CCC:Cacceptor_gain1.0000
13:37579358:CCCT:Cacceptor_loss1.0000

AlphaMissense

5515 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
13:37586867:A:TV223D1.000
13:37584757:C:TG356D0.999
13:37584758:C:GG356R0.999
13:37584891:A:CC311W0.999
13:37584892:C:GC311S0.999
13:37584893:A:GC311R0.999
13:37584893:A:TC311S0.999
13:37584925:A:GL300P0.999
13:37586216:G:TA273D0.999
13:37586873:C:AG221V0.999
13:37586873:C:TG221D0.999
13:37586874:C:AG221C0.999
13:37586874:C:GG221R0.999
13:37586882:G:TA218E0.999
13:37586883:C:GA218P0.999
13:37586911:A:CC208W0.999
13:37586912:C:GC208S0.999
13:37586912:C:TC208Y0.999
13:37586913:A:GC208R0.999
13:37586913:A:TC208S0.999
13:37586918:A:TV206D0.999
13:37590387:C:AW142C0.999
13:37590387:C:GW142C0.999
13:37590389:A:GW142R0.999
13:37590389:A:TW142R0.999
13:37590409:A:GF135S0.999
13:37592108:C:GC92S0.999
13:37592109:A:GC92R0.999
13:37592109:A:TC92S0.999
13:37592145:A:GC80R0.999

dbSNP variants (sampled 300 via entrez): RS1000013140 (13:37575322 G>A), RS1000082205 (13:37568498 C>T), RS1000141435 (13:37597866 A>G), RS1000237939 (13:37581474 C>T), RS1000293330 (13:37583770 A>G), RS1000388002 (13:37584130 A>G), RS1000467401 (13:37588446 A>G), RS1000575866 (13:37600533 T>C), RS1000681830 (13:37590758 T>C), RS1000706713 (13:37564366 T>C), RS1000723590 (13:37585902 C>T), RS1000887318 (13:37570384 T>C), RS1001034066 (13:37572875 A>G), RS1001163940 (13:37565484 T>A,C), RS1001217664 (13:37565835 G>A)

Disease associations

OMIM: gene MIM:608777 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

StudyTraitp-value
GCST001814_20Age-related macular degeneration6.000000e-06
GCST001814_30Age-related macular degeneration6.000000e-06
GCST002682_12Tourette’s syndrome or obsessive-compulsive disorder6.000000e-06
GCST006284_8Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease9.000000e-07
GCST006585_106Blood protein levels2.000000e-12
GCST006585_1380Blood protein levels3.000000e-16
GCST006585_691Blood protein levels9.000000e-23

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0006899PCSK9 protein measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

77 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, decreases methylation, affects cotreatment6
sodium arseniteincreases abundance, increases expression, decreases expression, affects cotreatment4
trichostatin Aaffects cotreatment, increases expression3
Benzo(a)pyreneincreases expression, increases methylation3
Doxorubicindecreases expression, increases expression, decreases response to substance3
bisphenol Adecreases expression, increases expression2
mono-(2-ethylhexyl)phthalatedecreases expression, increases methylation2
entinostatincreases expression, affects cotreatment2
Acetaminophendecreases expression2
Arsenicdecreases expression, affects cotreatment, increases abundance2
Dexamethasonedecreases reaction, increases expression, decreases expression2
Nickeldecreases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Tobacco Smoke Pollutionaffects expression, decreases expression2
Aflatoxin B1affects expression, increases expression2
Paclitaxelincreases expression, decreases response to substance2
bisphenol Fincreases expression1
gamabufotalindecreases expression, affects expression, affects reaction, decreases reaction, decreases phosphorylation1
lead acetateincreases expression1
trimellitic anhydridedecreases expression1
curcumoldecreases expression, decreases secretion, affects reaction1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
potassium chromate(VI)decreases expression1
nickel sulfateincreases expression1
mercuric bromideaffects cotreatment, increases expression1
asarum oildecreases reaction, increases abundance, increases expression1
arctigeninaffects cotreatment, decreases reaction, increases secretion, affects reaction1
perfluorooctane sulfonic aciddecreases expression1
paricalcitolaffects cotreatment, decreases expression1
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-onedecreases reaction, increases expression1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B2BMAbcam HeLa POSTN KOCancer cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.