HOMER2 (homer scaffold protein 2)

2018-11-01  

Identity

HGNC
HOMER2
LOCATION
15q25.2
LOCUSID
9455
ALIAS
ACPD,CPD,DFNA68,HOMER-2,VESL-2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
182189012008NFAT binding and regulation of T cell activation by the cytoplasmic scaffolding Homer proteins.28
258160052015HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.20
218856512011Expression and regulation of Homer in human skeletal muscle during neuromuscular junction adaptation to disuse and exercise.16
128157332003Mutation screening of the Homer gene family and association analysis in schizophrenia.15
163147582005Association of a polymorphism in the Homer1 gene with cocaine dependence in an African American population.15
163147582005Association of a polymorphism in the Homer1 gene with cocaine dependence in an African American population.15
199143452010Replicated genetic evidence supports a role for HOMER2 in schizophrenia.5
199143452010Replicated genetic evidence supports a role for HOMER2 in schizophrenia.5
256496522015Linking Genetics of Brain Changes to Alzheimer's Disease: Sparse Whole Genome Association Scan of Regional MRI Volumes in the ADNI and AddNeuroMed Cohorts.5

Citation

Dessen P

HOMER2 (homer scaffold protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57755/homer2