SIX2 |
Gene Facts External Data Attribution
- HGNC Symbol
- SIX2 (HGNC:10888) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SIX homeobox 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 7.02(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.94(Read more about gnomAD pLI score)
- LOEUF
- 0.34(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:45232321-45236591 NCBI Ensembl UCSC GRCh38/hg38: chr2:45005182-45009452 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016932.5 ENST00000303077.7 (Read more about MANE Select)
- Function
- Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing tran... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-8172
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)