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)