TWIST2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TWIST2 (HGNC:20670) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- twist family bHLH transcription factor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DERMO1, Dermo-1, bHLHa39
- %HI
- 6.73(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.56(Read more about gnomAD pLI score)
- LOEUF
- 1.15(Read more about gnomAD LOEUF score)
- Cytoband
- 2q37.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:239756726-239832230 NCBI Ensembl UCSC GRCh38/hg38: chr2:238848085-238910534 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001271893.4 ENST00000612363.2 (Read more about MANE Select)
- Function
- Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors. {E... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2852
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- focal facial dermal dysplasia type III Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)