Gene Gene information from NCBI Gene database.
Entrez ID 3487
Gene name Insulin like growth factor binding protein 4
Gene symbol IGFBP4
Synonyms (NCBI Gene)
BP-4HT29-IGFBPIBP4IGFBP-4
Chromosome 17
Chromosome location 17q21.2
Summary This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the p
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs563069739 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1175
miRTarBase ID miRNA Experiments Reference
MIRT017871 hsa-miR-335-5p Microarray 18185580
MIRT022691 hsa-miR-124-3p Microarray 18668037
MIRT025735 hsa-miR-7-5p Microarray 19073608
MIRT029547 hsa-miR-26b-5p Microarray 19088304
MIRT260160 hsa-miR-499a-3p PAR-CLIP 22291592
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
SP1 Unknown 10342835
SP3 Unknown 14767471
TBP Unknown 11058964
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0001558 Process Regulation of cell growth IEA
GO:0005102 Function Signaling receptor binding TAS 24431302
GO:0005515 Function Protein binding IPI 15642270, 16924115, 31467278, 32814053
GO:0005520 Function Insulin-like growth factor binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
146733 5473 ENSG00000141753
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22692
Protein name Insulin-like growth factor-binding protein 4 (IBP-4) (IGF-binding protein 4) (IGFBP-4)
Protein function 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.
PDB 1WQJ , 2DSP , 2DSQ , 2DSR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00219 IGFBP 27 80 Insulin-like growth factor binding protein Domain
PF00086 Thyroglobulin_1 174 249 Thyroglobulin type-1 repeat Domain
Sequence
MLPLCLVAALLLAAGPGPSLGDEAIHCPPCSEEKLARCRPPVGCEELVREPGCGCCATCA
LGLGMPCGVYTPRCGSGLRC
YPPRGVEKPLHTLMHGQGVCMELAEIEAIQESLQPSDKDE
GDHPNNSFSPCSAHDRRCLQKHFAKIRDRSTSGGKMKVNGAPREDARPVPQGSCQSELHR
ALERLAASQSRTHEDLYIIPIPNCDRNGNFHPKQCHPALDGQRGKCWCVDRKTGVKLPGG
LEPKGELDC
HQLADSFRE
Sequence length 258
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic rs563069739 RCV000454243
★★★★☆
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
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC DUCTAL ADENOCARCINOMA GWAS catalog
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome BEFREE 29526675
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16146846
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21166939, 7546777
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21166939
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 16146846
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15642131 Inhibit
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29211611
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 12937144 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 24395346
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 10192430 Associate
★☆☆☆☆
Found in Text Mining only