MESP2 (mesoderm posterior bHLH transcription factor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
145873
Gene name Gene Name - the full gene name approved by the HGNC.
Mesoderm posterior bHLH transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MESP2
Synonyms (NCBI Gene) Gene synonyms aliases
SCDO2, bHLHc6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCDO2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesod
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
SNP ID Visualize variation Clinical significance Consequence
rs71647806 C>G Pathogenic Missense variant, coding sequence variant
rs71647808 G>A,C,T Pathogenic Missense variant, stop gained, coding sequence variant
rs113994156 A>G Pathogenic Missense variant, coding sequence variant
rs113994157 A>G,T Pathogenic Missense variant, coding sequence variant
rs113994158 ->ACCG Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
miRTarBase ID miRNA Experiments Reference
MIRT021550 hsa-miR-142-3p Microarray 17612493
MIRT1143303 hsa-miR-22 CLIP-seq
MIRT1143304 hsa-miR-2909 CLIP-seq
MIRT2270475 hsa-miR-1193 CLIP-seq
MIRT2270476 hsa-miR-1343 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001707 Process Mesoderm formation IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605195 29659 ENSG00000188095
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q0VG99
Protein name Mesoderm posterior protein 2 (Class C basic helix-loop-helix protein 6) (bHLHc6)
Protein function Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Also regulates the FGF signaling pathway. Specifies the rostral half of the somites. Genera
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 82 → 136 Helix-loop-helix DNA-binding domain Domain
Sequence 
MAQSPPPQSLLGHDHWIFAQGWGWAGHWDSTSPASSSDSSGSCPCDGARGLPQPQPPSCS
SRAAEAAATTPRRARTGPAGGQRQSASEREKLRMRTLARALHELRRFLPPSLAPAGQSLT
KIETLRLAIRYIGHLSAVLGLSEESLQCRRRQRGDAGSPWGCPLCPDRGPAEAQTQAEGQ
GQGQGQGQGQGQGQGQGQGQGQGQGRRPGLVSAVLAEASWGSPSACPGAQAAPERLGRGV
HDTDPWATPPYCPKIQSPPYSSQGTTSDASLWTPPQGCPWTQSSPEPRNPPVPWTAAPAT
LELAAVYQGLSVSPEPCLSLGAPSLLPHPSCQRLQPQTPGRCWSHSAEVVPNSEDQGPGA
AFQLSEASPPQSSGLRFSGCPELWQEDLEGARLGIFY
Sequence length 397
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Spondylocostal Dysostosis spondylocostal dysostosis 2, autosomal recessive, autosomal recessive spondylocostal dysostosis GenCC
Gastroparesis Gastroparesis GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Dysostoses Associate 16385447
Jarcho Levin syndrome Associate 15122512