SBF2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SBF2 (HGNC:2135) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SET binding factor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CMT4B2
Alias symbols
KIAA1766, MTMR13, DENND7B
%HI
9.49(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.59(Read more about gnomAD LOEUF score)
Cytoband
11p15.4
Genomic Coordinates
GRCh37/hg19: chr11:9800215-10315766 NCBI Ensembl UCSC
GRCh38/hg38: chr11:9778668-10303837 NCBI Ensembl UCSC
MANE Select Transcript
NM_030962.4 ENST00000256190.13 (Read more about MANE Select)
Function
Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an ada... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23492
ClinGen Curation ID:
CCID:007803
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Charcot-Marie-Tooth disease type 4B2 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)