 |
STPG4 |
Gene Facts External Data Attribution
- HGNC Symbol
- STPG4 (HGNC:26850) HGNC Entrez Ensembl UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- sperm-tail PG-rich repeat containing 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C2orf61
- Alias symbols
- FLJ40172
- %HI
- 76.38(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.61(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:47314130-47382447 NCBI Ensembl UCSC GRCh38/hg38: chr2:47086991-47155308 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001163561.2 ENST00000445927.7 (Read more about MANE Select)
- Function
- Maternal factor that plays a role in epigenetic chromatin reprogramming during early development of the zygote. Involved in the regulation of gametic DNA demethylation by inducing the conversion of the modified genomic base 5-methylcytosine (5mC) into 5- hydroxymethylcytosine (5hmC). {ECO:0000250|UniProtKB:Q9DAG5}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-3163
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting 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)
