HOMER2 - homer scaffold protein 2 Gene
Also Known as CPD; ACPD; DFNA68; VESL-2; HOMER-2
Species: Homo sapiens
About HOMER2
This gene has 10 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in prostate (RPKM 9.3), pancreas (RPKM 6.8) and 16 other tissues.
Summary
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]
HOMER2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_004839.4 | NP_004830.2 | homer protein homolog 2 isoform 1 |
| NM_199330.3 | NP_955362.1 | homer protein homolog 2 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18218901 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of calcineurin-NFAT signaling cascade |
IMP
IMP: Inferred from mutant phenotype
|
18218901 | GOA |
| involved in negative regulation of interleukin-2 production |
IMP
IMP: Inferred from mutant phenotype
|
18218901 | GOA |
| involved in sensory perception of sound |
IMP
IMP: Inferred from mutant phenotype
|
25816005 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
25816005 | GOA |
HOMER2 Protein Structure
WH1: WH1 domain (4 - 106)
- 0
- 100
- 200
- 300
- 354 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homer protein homolog 2 |
|
HOMER2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HOMER2 | Q9NSB8 | RNF41 | Homo sapiens | Q9H4P4 | 25416956 | |
|
Intra
|
HOMER2 | Q9NSB8 | RNF41 | Homo sapiens | Q9H4P4 | 25416956 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Dominant 68 |
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
|
| Deafness, Autosomal Recessive 104 |
|
|
| Achilles Bursitis |
|
|
| Deafness, Autosomal Dominant 67 |
|
|
| Diamond-Blackfan Anemia 4 |
|
|
| Sensorineural Hearing Loss |
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | HOMER2 | VGNC | VGNC:73406 |
| Bos taurus | HOMER2 | VGNC | VGNC:29902 |
| Mus musculus | HOMER2 | MGD | MGI:1347354 |
| Felis catus | HOMER2 | VGNC | VGNC:62831 |
| Rattus norvegicus | HOMER2 | RGD | RGD:620705 |
| Others | HOMER2 | NCBI |