CC2D1A Chromosome 19
Coiled-coil and C2 domain containing 1A
Upload your DNA to see your personal genotypes for variants in CC2D1A.
What This Gene Does
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
C2 domain containing
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000132024
Associated Conditions (17)
Intellectual disability
autosomal recessive 3
Inborn genetic diseases
CC2D1A-related disorder
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Familial cancer of breast
Uveal melanoma
Malignant lymphoma
large B-cell
diffuse
Melanoma
Cervical cancer
Smith-Magenis Syndrome-like
Colon adenocarcinoma
Autosomal recessive non-syndromic intellectual disability
Key Variants
RS1179685623
Conflicting classifications of pathogenicity
Health Risk
RS143529486
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 3, Inborn genetic diseases
Health Risk
RS187418052
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 3, Inborn genetic diseases
Health Risk
RS188178946
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS191830054
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 3, Inborn genetic diseases
Health Risk
RS192358667
Conflicting classifications of pathogenicity
Inborn genetic diseases, Uterine corpus endometrial carcinoma, Inborn genetic diseases
Health Risk
RS199644216
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 3
Health Risk
RS199893133
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 3, Inborn genetic diseases
Health Risk
RS200354654
Conflicting classifications of pathogenicity
Inborn genetic diseases, CC2D1A-related disorder, Inborn genetic diseases
Health Risk
RS200445152
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 3, Inborn genetic diseases
Health Risk
RS200557641
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 3, Inborn genetic diseases
Health Risk
RS201177183
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 3, Inborn genetic diseases
Health Risk
All Variants (88)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1179685623 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143529486 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS187418052 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS188178946 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS191830054 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS192358667 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Uterine corpus endometrial carcinoma, Inborn genetic diseases |
| RS199644216 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 3 |
| RS199893133 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS200354654 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CC2D1A-related disorder, Inborn genetic diseases |
| RS200445152 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS200557641 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS201177183 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS201251295 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS201374643 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 3 |
| RS201665826 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201853183 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CC2D1A-related disorder, Inborn genetic diseases |
| RS201884654 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, autosomal recessive 3 |
| RS201921029 | Health Risk | Conflicting classifications of pathogenicity | Smith-Magenis Syndrome-like, Inborn genetic diseases, Intellectual disability |
| RS202057391 | Health Risk | Conflicting classifications of pathogenicity | Smith-Magenis Syndrome-like, Intellectual disability, autosomal recessive 3 |
| RS34146052 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS367739982 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS368221981 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 3 |
| RS373022042 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373157979 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375001092 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375912206 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS529368098 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, CC2D1A-related disorder |
| RS534160840 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS539992718 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS541952457 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS559696209 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS576457697 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 3 |
| RS61748827 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753866885 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Intellectual disability |
| RS754855261 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755038966 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, Inborn genetic diseases |
| RS765282375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767908962 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769120532 | Health Risk | Conflicting classifications of pathogenicity | CC2D1A-related disorder, CC2D1A-related disorder |
| RS77389229 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 3, CC2D1A-related disorder |
| RS775951098 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781070707 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS867408303 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1243033176 | Health Risk | Likely pathogenic | — |
| RS1315521885 | Health Risk | Likely pathogenic | — |
| RS1358918716 | Health Risk | Likely pathogenic | — |
| RS1971392241 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 3, Intellectual disability |
| RS1971662595 | Health Risk | Likely pathogenic | Colon adenocarcinoma, Colon adenocarcinoma |
| RS1971718959 | Health Risk | Likely pathogenic | — |
| RS200450636 | Health Risk | Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal recessive 3 |