|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9922
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
IQ motif and Sec7 domain ArfGEF 1 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IQSEC1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ARF-GEP100, ARFGEP100, BRAG2, GEP100, IDDSSBA |
|
Chromosome
Chromosome number
|
3 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p25.2-p25.1 |
| UniProt ID |
Q6DN90
|
| Protein name |
IQ motif and SEC7 domain-containing protein 1 (ADP-ribosylation factors guanine nucleotide-exchange protein 100) (ADP-ribosylation factors guanine nucleotide-exchange protein 2) (Brefeldin-resistant Arf-GEF 2 protein) (BRAG2) |
| Protein function |
Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:11226253, PubMed:24058294). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nu |
| PDB |
3QWM
,
4C0A
,
5NLV
,
5NLY
,
6FNE
,
7VMB
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF01369
|
Sec7 |
524 → 712 |
Sec7 domain |
Domain |
|
PF16453
|
IQ_SEC7_PH |
743 → 879 |
PH domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Expressed in brain, ovary, heart, lung, liver, kidney and leukocytes. Moderate expression was also detected in lung, skeletal muscle, placenta, small intestine, pancreas, spleen and testis. {ECO:0000269|PubMed:11226253, ECO:0000269|Pub |
| Sequence |
|
| Sequence length |
963 |
| Interactions |
View interactions
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Mental retardation |
Intellectual developmental disorder with short stature and behavioral abnormalities |
rs765723607, rs758170522 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Non-Syndromic Intellectual Disability |
autosomal recessive non-syndromic intellectual disability |
N/A |
N/A |
GenCC |
|
|
|