INSRR

insulin receptor related receptor, the group of Receptor tyrosine kinases|Fibronectin type III domain containing

Basic information

Region (hg38): 1:156840062-156859117

Links

ENSG00000027644 ∙ NCBI:3645 ∙ OMIM:147671 ∙ HGNC:6093 ∙ Uniprot:P14616 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

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

• Inborn genetic diseases (64 variants)
• not provided (35 variants)
• Hereditary insensitivity to pain with anhidrosis (8 variants)
• Familial medullary thyroid carcinoma (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INSRR 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				18	3	21
missense			65	9	1	75
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2		2	4
non coding			2	3		5
Total	0	0	68	30	4

Variants in INSRR

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

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

Position	Type	Phenotype	Significance	ClinVar
1-156840887-C-A		not specified	Uncertain significance (Oct 12, 2022)
1-156840910-C-T		not specified	Likely benign (Mar 31, 2023)
1-156840962-G-A		not specified	Uncertain significance (Nov 09, 2021)
1-156840978-C-T			Likely benign (Mar 01, 2022)
1-156841006-A-G		Hereditary insensitivity to pain with anhidrosis	Uncertain significance (May 28, 2019)
1-156841016-G-A		not specified	Uncertain significance (Dec 13, 2021)
1-156841019-G-T		not specified	Uncertain significance (Nov 09, 2021)
1-156841031-T-A		not specified	Uncertain significance (Dec 06, 2022)
1-156841048-G-A		not specified	Uncertain significance (Sep 23, 2023)
1-156841109-T-C			Benign (Dec 31, 2019)
1-156841431-C-T		not specified	Uncertain significance (Nov 10, 2021)
1-156841455-C-A		not specified	Uncertain significance (Mar 14, 2023)
1-156841518-C-G		not specified	Uncertain significance (Mar 23, 2023)
1-156841518-C-T		not specified	Uncertain significance (May 05, 2022)
1-156841518-C-CG		Familial medullary thyroid carcinoma	Uncertain significance (Jul 02, 2018)
1-156841679-G-A			Likely benign (Jul 01, 2022)
1-156841708-C-T		not specified	Uncertain significance (Mar 02, 2023)
1-156841712-G-A			Benign (Jan 01, 2024)
1-156841722-C-A		not specified	Uncertain significance (Aug 13, 2021)
1-156842014-C-G			Likely benign (May 19, 2019)
1-156842084-G-A		not specified	Likely benign (Mar 14, 2024)
1-156842089-C-T		Hereditary insensitivity to pain with anhidrosis	Likely benign (Jun 22, 2022)
1-156842095-C-A		Hereditary insensitivity to pain with anhidrosis	Uncertain significance (Nov 13, 2017)
1-156842103-C-T		Hereditary insensitivity to pain with anhidrosis	Uncertain significance (May 28, 2019)
1-156842104-C-A		Hereditary insensitivity to pain with anhidrosis	Uncertain significance (May 30, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INSRR	protein_coding	protein_coding	ENST00000368195	22	18956

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.40e-24	0.226	125559	0	189	125748	0.000752

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.801	740	804	0.920	0.0000491	8355
Missense in Polyphen		321	342.39	0.93752		3607
Synonymous	0.0186	333	333	0.999	0.0000204	2725
Loss of Function	1.87	45	60.7	0.741	0.00000312	629

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00117	0.00115
Ashkenazi Jewish	0.000173	0.0000992
East Asian	0.00109	0.00109
Finnish	0.00148	0.00148
European (Non-Finnish)	0.000763	0.000747
Middle Eastern	0.00109	0.00109
South Asian	0.000533	0.000523
Other	0.00115	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB. {ECO:0000269|PubMed:21641549}.
• Pathway: Regulation of actin cytoskeleton - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Pathways Affected in Adenoid Cystic Carcinoma (Consensus)

Recessive Scores

• pRec: 0.196

Intolerance Scores

• loftool: 0.239
• rvis_EVS: -2.25
• rvis_percentile_EVS: 1.28

Haploinsufficiency Scores

• pHI: 0.623
• hipred: Y
• hipred_score: 0.546
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.688

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Insrr
• Phenotype: homeostasis/metabolism phenotype; reproductive system 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); normal phenotype; renal/urinary system phenotype

Gene ontology

• Biological process: transmembrane receptor protein tyrosine kinase signaling pathway;insulin receptor signaling pathway;peptidyl-tyrosine phosphorylation;male sex determination;actin cytoskeleton reorganization;protein autophosphorylation;anatomical structure development;cellular response to alkaline pH
• Cellular component: integral component of plasma membrane;insulin receptor complex;axon;receptor complex
• Molecular function: transmembrane receptor protein tyrosine kinase activity;insulin-activated receptor activity;ATP binding;phosphatidylinositol 3-kinase binding;insulin receptor substrate binding