ARHGAP35 Chromosome 19
Rho GTPase activating protein 35
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What This Gene Does
The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Rho GTPase activating proteins
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000160007
Associated Conditions (6)
Martsolf syndrome 1
Neurodevelopmental disorder
Bilateral microphthalmos
Syndromic microphthalmia
Unilateral microphthalmos
Irido-corneo-trabecular dysgenesis
Key Variants
RS1324454897
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS188397648
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS2056190516
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2122336841
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS2514156770
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS2514156784
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS2514157003
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS2514159829
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS2514162911
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS2514163537
Likely pathogenic
Martsolf syndrome 1, Martsolf syndrome 1
Health Risk
RS1063735
Pathogenic
Bilateral microphthalmos, Syndromic microphthalmia, Bilateral microphthalmos
Health Risk
RS2514161964
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1324454897 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS188397648 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2056190516 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2122336841 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2514156770 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2514156784 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2514157003 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2514159829 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2514162911 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2514163537 | Health Risk | Likely pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS1063735 | Health Risk | Pathogenic | Bilateral microphthalmos, Syndromic microphthalmia, Bilateral microphthalmos |
| RS2514161964 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2514235154 | Health Risk | Pathogenic | Unilateral microphthalmos, Unilateral microphthalmos |
| RS2514235402 | Health Risk | Pathogenic | Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis |