Gene Gene information from NCBI Gene database.
Entrez ID 3645
Gene name Insulin receptor related receptor
Gene symbol INSRR
Synonyms (NCBI Gene)
IRR
Chromosome 1
Chromosome location 1q23.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IEA
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IDA 21641549
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147671 6093 ENSG00000027644
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14616
Protein name Insulin receptor-related protein (IRR) (EC 2.7.10.1) (IR-related receptor) [Cleaved into: Insulin receptor-related protein alpha chain; Insulin receptor-related protein beta chain]
Protein 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.
PDB 7PL4 , 7TYJ , 7TYK , 7TYM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01030 Recep_L_domain 47 159 Receptor L domain Repeat
PF00757 Furin-like 173 329 Furin-like cysteine rich region Domain
PF01030 Recep_L_domain 346 460 Receptor L domain Repeat
PF07714 PK_Tyr_Ser-Thr 979 1246 Protein tyrosine and serine/threonine kinase Domain
Sequence
MAVPSLWPWGACLPVIFLSLGFGLDTVEVCPSLDIRSEVAELRQLENCSVVEGHLQILLM
FTATGEDFRGLSFPRLTQVTDYLLLFRVYGLESLRDLFPNLAVIRGTRLFLGYALVIFEM
PHLRDVALPALGAVLRGAVRVEKNQELCHLSTIDWGLLQ
PAPGANHIVGNKLGEECADVC
PGVLGAAGEPCAKTTFSGHTDYRCWTSSHCQRVCPCPHGMACTARGECCHTECLGGCSQP
EDPRACVACRHLYFQGACLWACPPGTYQYESWRCVTAERCASLHSVPGRASTFGIHQGSC
LAQCPSGFTRNSSSIFCHKCEGLCPKECK
VGTKTIDSIQAAQDLVGCTHVEGSLILNLRQ
GYNLEPQLQHSLGLVETITGFLKIKHSFALVSLGFFKNLKLIRGDAMVDGNYTLYVLDNQ
NLQQLGSWVAAGLTIPVGKIYFAFNPRLCLEHIYRLEEVT
GTRGRQNKAEINPRTNGDRA
ACQTRTLRFVSNVTEADRILLRWERYEPLEARDLLSFIVYYKESPFQNATEHVGPDACGT
QSWNLLDVELPLSRTQEPGVTLASLKPWTQYAVFVRAITLTTEEDSPHQGAQSPIVYLRT
LPAAPTVPQDVISTSNSSSHLLVRWKPPTQRNGNLTYYLVLWQRLAEDGDLYLNDYCHRG
LRLPTSNNDPRFDGEDGDPEAEMESDCCPCQHPPPGQVLPPLEAQEASFQKKFENFLHNA
ITIPISPWKVTSINKSPQRDSGRHRRAAGPLRLGGNSSDFEIQEDKVPRERAVLSGLRHF
TEYRIDIHACNHAAHTVGCSAATFVFARTMPHREADGIPGKVAWEASSKNSVLLRWLEPP
DPNGLILKYEIKYRRLGEEATVLCVSRLRYAKFGGVHLALLPPGNYSARVRATSLAGNGS
WTDSVAFYILGPEEEDAGGLHVLLTATPVGLTLLIVLAALGFFYGKKRNRTLYASVNPEY
FSASDMYVPDEWEVPREQISIIRELGQGSFGMVYEGLARGLEAGEESTPVALKTVNELAS
PRECIEFLKEASVMKAFKCHHVVRLLGVVSQGQPTLVIMELMTRGDLKSHLRSLRPEAEN
NPGLPQPALGEMIQMAGEIADGMAYLAANKFVHRDLAARNCMVSQDFTVKIGDFGMTRDV
YETDYYRKGGKGLLPVRWMAPESLKDGIFTTHSDVWSFGVVLWEIVTLAEQPYQGLSNEQ
VLKFVMDGGVLEELEGCPLQLQELMSRCWQPNPRLRPSFTHILDSI
QEELRPSFRLLSFY
YSPECRGARGSLPTTDAEPDSSPTPRDCSPQNGGPGH
Sequence length 1297
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Regulation of actin cytoskeleton
Prostate cancer
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
CARCINOMA, ADENOID CYSTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 14654552
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30276822, 30340936
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28867419, 29891412, 31182085
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28867419, 29438604, 29891412, 29986021, 31182085
★☆☆☆☆
Found in Text Mining only
Appendicitis Appendicitis BEFREE 30389148
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 29668916
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28890020, 29200151
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28506809, 29386899
★☆☆☆☆
Found in Text Mining only