RLIM Chromosome X
Ring finger protein, LIM domain interacting
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What This Gene Does
The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
Xq13.2
Ensembl
ENSG00000131263
Associated Conditions (6)
Intellectual disability
X-linked 61
Inborn genetic diseases
See cases
Non-syndromic X-linked intellectual disability
Global developmental delay
Key Variants
RS1555997735
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS2147372077
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS2519837398
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS768846788
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 61, Inborn genetic diseases
Health Risk
RS1569309449
Likely pathogenic
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS1569309484
Likely pathogenic
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS1569310039
Likely pathogenic
Health Risk
RS2079618652
Likely pathogenic
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS2147372360
Likely pathogenic
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS866839831
Likely pathogenic
See cases, See cases
Health Risk
RS1569309459
Pathogenic
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
RS1569309474
Pathogenic
Intellectual disability, X-linked 61, Intellectual disability
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555997735 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 61, Intellectual disability |
| RS2147372077 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 61, Intellectual disability |
| RS2519837398 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 61, Intellectual disability |
| RS768846788 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 61, Inborn genetic diseases |
| RS1569309449 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 61, Intellectual disability |
| RS1569309484 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 61, Intellectual disability |
| RS1569310039 | Health Risk | Likely pathogenic | — |
| RS2079618652 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 61, Intellectual disability |
| RS2147372360 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 61, Intellectual disability |
| RS866839831 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1569309459 | Health Risk | Pathogenic | Intellectual disability, X-linked 61, Intellectual disability |
| RS1569309474 | Health Risk | Pathogenic | Intellectual disability, X-linked 61, Intellectual disability |
| RS786205133 | Health Risk | Pathogenic | Non-syndromic X-linked intellectual disability, Intellectual disability, X-linked 61 |
| RS1569309460 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 61, Intellectual disability |
| RS1569309776 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 61, Inborn genetic diseases |
| RS1569309816 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 61, Intellectual disability |