ARHGEF4
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ARHGEF4 (HGNC:684) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Rho guanine nucleotide exchange factor 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
STM6, KIAA1112, ASEF, ASEF1
%HI
65.32(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.89(Read more about gnomAD LOEUF score)
Cytoband
2q21.1
Genomic Coordinates
GRCh37/hg19: chr2:131594487-131804826 NCBI Ensembl UCSC
GRCh38/hg38: chr2:130836914-131047253 NCBI Ensembl UCSC
MANE Select Transcript
NM_001367493.1 ENST00000409359.7 (Read more about MANE Select)
Function
Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion. Required for MMP9 up- regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression. {ECO:0000269|PubMed:10947987, ECO:0000269|PubMed:125989... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36455
ClinGen Curation ID:
CCID:006684
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
04/05/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
ARHGEF4 resides within the recurrent 2q21.1 deletion interval, and has been proposed as a candidate gene within this region. Focal deletions and loss-of-function mutations have not been reported thus far; therefore the haploinsufficiency score is 0. Please see the linked region for further evidence relating to the 2q21.1 recurrent deletion/duplication.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
ARHGEF4 resides within the recurrent 2q21.1 duplication interval. Focal duplications have not been reported thus far; therefore the triplosensitivity score is 0. Please see the linked region for further evidence relating to the 2q21.1 recurrent deletion/duplication.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)