KDM5C Chromosome X
Lysine demethylase 5C
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What This Gene Does
This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
"PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000126012
Associated Conditions (14)
Inborn genetic diseases
Spastic paraplegia
KDM5C-related disorder
Syndromic X-linked intellectual disability Claes-Jensen type
Smith-Magenis Syndrome-like
Melanoma
Thyroid cancer
nonmedullary
1
Intellectual disability
Multiple myeloma
Hirsutism
Developmental disorder
Rare genetic intellectual disability
Key Variants
RS1018074229
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1064794733
Conflicting classifications of pathogenicity
KDM5C-related disorder, KDM5C-related disorder
Health Risk
RS1288544172
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS138520224
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS139444870
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1428740468
Conflicting classifications of pathogenicity
Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia
Health Risk
RS1463790897
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS146572363
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS148661902
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS149733911
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1556836492
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1556842216
Conflicting classifications of pathogenicity
Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia
Health Risk
All Variants (171)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519442933 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2519509156 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2519599338 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519628292 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS281860639 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS782141541 | Health Risk | Pathogenic | — |
| RS782246658 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS782405999 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS782454131 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS782600511 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS782663655 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS797044682 | Health Risk | Pathogenic | — |
| RS797044706 | Health Risk | Pathogenic | — |
| RS797044731 | Health Risk | Pathogenic | — |
| RS878853141 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS878853151 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS886037836 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS886041855 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1569274606 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2519541632 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia |
| RS370032584 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia |