HOMER2 Chromosome 15
Homer scaffold protein 2
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What This Gene Does
This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
Homer scaffold proteins
Locus Type
gene with protein product
Location
15q25.2
Ensembl
ENSG00000103942
Associated Conditions (3)
HOMER2-related disorder
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 68
Key Variants
RS199835958
Conflicting classifications of pathogenicity
Health Risk
RS200964994
Conflicting classifications of pathogenicity
HOMER2-related disorder, Inborn genetic diseases, HOMER2-related disorder
Health Risk
RS201330165
Conflicting classifications of pathogenicity
Inborn genetic diseases, HOMER2-related disorder, Inborn genetic diseases
Health Risk
RS201522712
Conflicting classifications of pathogenicity
Health Risk
RS369968997
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS560032927
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS567936162
Conflicting classifications of pathogenicity
Health Risk
RS76145073
Conflicting classifications of pathogenicity
Inborn genetic diseases, HOMER2-related disorder, Inborn genetic diseases
Health Risk
RS926318221
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2051382723
Pathogenic
Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68
Health Risk
RS2051382999
Pathogenic
Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68
Health Risk
RS864309524
Pathogenic
Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199835958 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200964994 | Health Risk | Conflicting classifications of pathogenicity | HOMER2-related disorder, Inborn genetic diseases, HOMER2-related disorder |
| RS201330165 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HOMER2-related disorder, Inborn genetic diseases |
| RS201522712 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369968997 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS560032927 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567936162 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS76145073 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HOMER2-related disorder, Inborn genetic diseases |
| RS926318221 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2051382723 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68 |
| RS2051382999 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68 |
| RS864309524 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68 |