IGFBP2

insulin like growth factor binding protein 2, the group of Insulin like growth factor binding proteins

Basic information

Region (hg38): 2:216632827-216664436

Previous symbols: [ "IBP2" ]

Links

ENSG00000115457

∙ NCBI:3485 ∙ OMIM:146731 ∙ HGNC:5471 ∙ Uniprot:P18065 ∙ 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 IGFBP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGFBP2 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IGFBP2	protein_coding	protein_coding	ENST00000233809	4	31609

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.119	0.858	124710	0	3	124713	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.71	92	151	0.609	0.00000895	2021
Missense in Polyphen		24	58.481	0.41039		687
Synonymous	0.138	62	63.4	0.978	0.00000367	700
Loss of Function	1.95	3	9.50	0.316	4.88e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000333	0.0000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000466	0.0000464
European (Non-Finnish)	0.00000898	0.00000883
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Inhibits IGF-mediated growth and developmental rates. IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. {ECO:0000269|PubMed:19081843}.;
Pathway: Myometrial Relaxation and Contraction Pathways;Senescence-Associated Secretory Phenotype (SASP);Photodynamic therapy-induced HIF-1 survival signaling;Metabolism of proteins;IGF signaling;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

pRec: 0.434

Haploinsufficiency Scores

pHI: 0.875
hipred: Y
hipred_score: 0.743
ghis: 0.445

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Igfbp2
Phenotype: immune system phenotype; renal/urinary system phenotype; liver/biliary system phenotype; hematopoietic 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); normal phenotype;

Gene ontology

Biological process: regulation of cell growth;signal transduction;female pregnancy;aging;response to nutrient;response to mechanical stimulus;response to lithium ion;response to estradiol;response to retinoic acid;cellular response to hormone stimulus;positive regulation of activated T cell proliferation;response to drug;regulation of insulin-like growth factor receptor signaling pathway;response to estrogen;cellular protein metabolic process;response to glucocorticoid;negative regulation of canonical Wnt signaling pathway
Cellular component: extracellular region;extracellular space;apical plasma membrane;cytoplasmic vesicle;extracellular exosome
Molecular function: signaling receptor binding;protein binding;insulin-like growth factor I binding;insulin-like growth factor II binding