MSGN1 (mesogenin 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
343930
Gene name Gene Name - the full gene name approved by the HGNC.
Mesogenin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSGN1
Synonyms (NCBI Gene) Gene synonyms aliases
MSOG, pMsgn1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p24.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612209 14907 ENSG00000151379
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID A6NI15
Protein name Mesogenin-1 (Paraxial mesoderm-specific mesogenin1) (pMesogenin1) (pMsgn1)
Protein function Involved in specifying the paraxial, but not dorsal, mesoderm. May regulate the expression of T-box transcription factors required for mesoderm formation and differentiation (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 125 → 179 Helix-loop-helix DNA-binding domain Domain
Sequence 
MDNLRETFLSLEDGLGSSDSPGLLSSWDWKDRAGPFELNQASPSQSLSPAPSLESYSSSP
CPAVAGLPCEHGGASSGGSEGCSVGGASGLVEVDYNMLAFQPTHLQGGGGPKAQKGTKVR
MSVQRRRKASEREKLRMRTLADALHTLRNYLPPVYSQRGQPLTKIQTLKYTIKYIGELTD
LLNRGREPRAQSA
Sequence length 193
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coenzyme Q10 Deficiency Coenzyme Q10 levels N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Skeletal Dysplasia skeletal dysplasia N/A N/A GenCC
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arnold Chiari Malformation Associate 23437350