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MBD5 |
Gene Facts External Data Attribution
- HGNC Symbol
- MBD5 (HGNC:20444) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- methyl-CpG binding domain protein 5
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ11113, KIAA1461
- %HI
- 8.24(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.16(Read more about gnomAD LOEUF score)
- Cytoband
- 2q23.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:148778580-149274540 NCBI Ensembl UCSC GRCh38/hg38: chr2:148020927-148516971 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001378120.1 ENST00000642680.2 (Read more about MANE Select)
- Function
- Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23062
ClinGen Curation ID:
CCID:007440
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
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)
