POSTN

periostin, the group of Gla domain containing

Basic information

Region (hg38): 13:37562582-37598844

Links

ENSG00000133110 ∙ NCBI:10631 ∙ OMIM:608777 ∙ HGNC:16953 ∙ Uniprot:Q15063 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POSTN gene.

• Inborn genetic diseases (32 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POSTN gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	3	4
missense			32		1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	1	4

Variants in POSTN

This is a list of pathogenic ClinVar variants found in the POSTN region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
13-37563343-C-T		not specified	Uncertain significance (Dec 03, 2021)
13-37569335-A-G			Benign (Mar 01, 2023)
13-37569359-A-G		not specified	Uncertain significance (Nov 21, 2022)
13-37571423-G-A		not specified	Uncertain significance (May 09, 2023)
13-37571428-C-T		not specified	Uncertain significance (Jul 14, 2023)
13-37571432-C-G		not specified	Uncertain significance (Dec 01, 2022)
13-37571450-G-C		not specified	Uncertain significance (Mar 27, 2023)
13-37574601-C-T		not specified	Uncertain significance (Nov 12, 2021)
13-37574635-T-G		not specified	Uncertain significance (Apr 28, 2023)
13-37577776-T-C		not specified	Uncertain significance (Feb 27, 2023)
13-37578860-T-G		not specified	Uncertain significance (Nov 22, 2023)
13-37578894-C-A		not specified	Uncertain significance (Oct 10, 2023)
13-37579087-G-A		not specified	Uncertain significance (Feb 05, 2024)
13-37579121-C-T		not specified	Uncertain significance (Oct 10, 2023)
13-37579312-C-G		not specified	Uncertain significance (Feb 05, 2024)
13-37579350-T-C		not specified	Uncertain significance (Nov 17, 2022)
13-37579355-G-T		not specified	Uncertain significance (Jan 31, 2022)
13-37579938-G-A		not specified	Uncertain significance (Jun 26, 2023)
13-37580595-G-A		not specified	Uncertain significance (May 27, 2022)
13-37580660-C-T		not specified	Uncertain significance (Jun 22, 2021)
13-37582377-C-T		not specified	Uncertain significance (Jan 23, 2024)
13-37582490-C-T		not specified	Uncertain significance (Oct 26, 2021)
13-37582506-G-C		not specified	Uncertain significance (Nov 18, 2023)
13-37584026-C-G		not specified	Uncertain significance (Sep 16, 2021)
13-37584058-G-A		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POSTN	protein_coding	protein_coding	ENST00000379747	23	36262

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.07e-9	0.999	125652	0	96	125748	0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.852	393	443	0.886	0.0000225	5479
Missense in Polyphen		151	186.67	0.8089		2295
Synonymous	-0.617	166	156	1.06	0.00000850	1565
Loss of Function	3.00	22	43.3	0.508	0.00000219	570

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000414	0.000401
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000282	0.000272
Finnish	0.00158	0.00157
European (Non-Finnish)	0.000314	0.000308
Middle Eastern	0.000282	0.000272
South Asian	0.000340	0.000327
Other	0.000493	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces cell attachment and spreading and plays a role in cell adhesion (PubMed:12235007). Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX (By similarity). {ECO:0000250|UniProtKB:Q62009, ECO:0000269|PubMed:12235007}.
• Pathway: Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;Amplification and Expansion of Oncogenic Pathways as Metastatic Traits (Consensus)

Recessive Scores

• pRec: 0.744

Intolerance Scores

• loftool: 0.0534
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.58

Haploinsufficiency Scores

• pHI: 0.933
• hipred: Y
• hipred_score: 0.544
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.198

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Postn
• Phenotype: immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Gene ontology

• Biological process: skeletal system development;response to hypoxia;negative regulation of cell-matrix adhesion;regulation of systemic arterial blood pressure;cell adhesion;regulation of Notch signaling pathway;response to mechanical stimulus;response to muscle activity;positive regulation of smooth muscle cell migration;extracellular matrix organization;response to estradiol;cellular response to fibroblast growth factor stimulus;cellular response to vitamin K;cellular response to tumor necrosis factor;cellular response to transforming growth factor beta stimulus;negative regulation of substrate adhesion-dependent cell spreading;positive regulation of chemokine (C-C motif) ligand 2 secretion;neuron projection extension;bone regeneration
• Cellular component: extracellular space;trans-Golgi network;extracellular matrix;neuromuscular junction;collagen-containing extracellular matrix
• Molecular function: extracellular matrix structural constituent;protein binding;heparin binding;metal ion binding;cell adhesion molecule binding