IGHMBP2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- IGHMBP2 (HGNC:5542) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- immunoglobulin mu DNA binding protein 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6, CMT2S
- %HI
- 80.78(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.95(Read more about gnomAD LOEUF score)
- Cytoband
- 11q13.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:68671359-68708069 NCBI Ensembl UCSC GRCh38/hg38: chr11:68903891-68940601 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002180.3 ENST00000255078.8 (Read more about MANE Select)
- Function
- 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction (PubMed:19158098, PubMed:30218034, PubMed:22999958). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:8349627, PubMed:22999958). May play a role in RNA metabolism, ribosome biogenesis or initiation of translation (PubMed:19299493, PubMed:19158098). May play a role in regulation of transcription (By similarity). Interacts with tRNA-Tyr (PubMed:19299493). {ECO:0000250|UniProtKB:Q9EQN5, ECO:... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9251
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:
- autosomal recessive distal spinal muscular atrophy 1 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)