HOMER2 (homer scaffold protein 2)

2018-11-01  

Identity

HGNC
LOCATION
15q25.2
LOCUSID
ALIAS
ACPD,CPD,DFNA68,HOMER-2,VESL-2
FUSION GENES

Other Information

Locus ID:

NCBI: 9455
MIM: 604799
HGNC: 17513
Ensembl: ENSG00000103942

Variants:

dbSNP: 9455
ClinVar: 9455
TCGA: ENSG00000103942
COSMIC: HOMER2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103942ENST00000304231Q9NSB8
ENSG00000103942ENST00000450735Q9NSB8
ENSG00000103942ENST00000558817H0YNR9

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
FoxO signaling pathwayKEGGhsa04068
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
371734112023Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.2
371734112023Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.2
338092662021A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.4
338092662021A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.4
298911902018Overexpression of HOMER2 predicts better outcome in low-grade endometrioid endometrial adenocarcinoma.2
300471432018Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness.7
298911902018Overexpression of HOMER2 predicts better outcome in low-grade endometrioid endometrial adenocarcinoma.2
300471432018Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness.7
278326252016Diagnostic Potential of Differentially Expressed Homer1 and Homer2 in Ischemic Stroke.3
278326252016Diagnostic Potential of Differentially Expressed Homer1 and Homer2 in Ischemic Stroke.3
256496522015Linking Genetics of Brain Changes to Alzheimer's Disease: Sparse Whole Genome Association Scan of Regional MRI Volumes in the ADNI and AddNeuroMed Cohorts.8
258160052015HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.32
256496522015Linking Genetics of Brain Changes to Alzheimer's Disease: Sparse Whole Genome Association Scan of Regional MRI Volumes in the ADNI and AddNeuroMed Cohorts.8
258160052015HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.32
218856512011Expression and regulation of Homer in human skeletal muscle during neuromuscular junction adaptation to disuse and exercise.26

Citation

Dessen P

HOMER2 (homer scaffold protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57755/homer2-(homer-scaffold-protein-2)