Gene Gene information from NCBI Gene database.
Entrez ID 55897
Gene name Mesoderm posterior bHLH transcription factor 1
Gene symbol MESP1
Synonyms (NCBI Gene)
bHLHc5
Chromosome 15
Chromosome location 15q26.1
miRNA miRNA information provided by mirtarbase database.
23
miRTarBase ID miRNA Experiments Reference
MIRT2040776 hsa-miR-1236 CLIP-seq
MIRT2040777 hsa-miR-23a CLIP-seq
MIRT2040778 hsa-miR-23b CLIP-seq
MIRT2040779 hsa-miR-23c CLIP-seq
MIRT2040780 hsa-miR-2682 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 18297060
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608689 29658 ENSG00000166823
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRJ9
Protein name Mesoderm posterior protein 1 (Class C basic helix-loop-helix protein 5) (bHLHc5)
Protein function Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity). {ECO:0000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 83 137 Helix-loop-helix DNA-binding domain Domain
Sequence
MAQPLCPPLSESWMLSAAWGPTRRPPPSDKDCGRSLVSSPDSWGSTPADSPVASPARPGT
LRDPRAPSVGRRGARSSRLGSGQRQSASEREKLRMRTLARALHELRRFLPPSVAPAGQSL
TKIETLRLAIRYIGHLS
AVLGLSEESLQRRCRQRGDAGSPRGCPLCPDDCPAQMQTRTQA
EGQGQGRGLGLVSAVRAGASWGSPPACPGARAAPEPRDPPALFAEAACPEGQAMEPSPPS
PLLPGDVLALLETWMPLSPLEWLPEEPK
Sequence length 268
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital heart disease Uncertain significance ClinVar
ClinGen, Disgenet
ClinGen, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESP1-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
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
Carcinoma of lung Lung carcinoma BEFREE 31761621
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 26694203
★☆☆☆☆
Found in Text Mining only
Congenital heart disease Congenital Heart Disease BEFREE 24056064
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Coronary heart disease Coronary Heart Disease BEFREE 26694203, 28677747
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic retinopathy Pubtator 33221518 Associate
★☆☆☆☆
Found in Text Mining only
Double Outlet Right Ventricle Double Outlet Right Ventricle BEFREE 28677747
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes BEFREE 25069679
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 31761621
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 31761621
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31761621
★☆☆☆☆
Found in Text Mining only