HOMER2 (homer scaffold protein 2)

Gene

• Entrez ID: 9455
• Gene name: Homer scaffold protein 2
• Gene symbol: HOMER2
• Synonyms (NCBI Gene): ACPD, CPD, DFNA68, HOMER-2, VESL-2
• Chromosome: 15
• Chromosome location: 15q25.2
• 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 mul

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs864309524	C>G,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019932	hsa-miR-375	Microarray	20215506
MIRT035764	hsa-miR-103a-2-5p	CLASH	23622248
MIRT711980	hsa-miR-5007-5p	HITS-CLIP	19536157
MIRT711979	hsa-miR-922	HITS-CLIP	19536157
MIRT711978	hsa-miR-214-3p	HITS-CLIP	19536157
MIRT711977	hsa-miR-3619-5p	HITS-CLIP	19536157
MIRT711976	hsa-miR-761	HITS-CLIP	19536157
MIRT711975	hsa-miR-4291	HITS-CLIP	19536157
MIRT711974	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT711973	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT711980	hsa-miR-5007-5p	HITS-CLIP	19536157
MIRT711979	hsa-miR-922	HITS-CLIP	19536157
MIRT711978	hsa-miR-214-3p	HITS-CLIP	19536157
MIRT711977	hsa-miR-3619-5p	HITS-CLIP	19536157
MIRT711976	hsa-miR-761	HITS-CLIP	19536157
MIRT711975	hsa-miR-4291	HITS-CLIP	19536157
MIRT711974	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT711973	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT1052591	hsa-miR-146b-3p	CLIP-seq
MIRT1052592	hsa-miR-217	CLIP-seq
MIRT1052593	hsa-miR-3173-5p	CLIP-seq
MIRT1052594	hsa-miR-409-3p	CLIP-seq
MIRT1052595	hsa-miR-4732-3p	CLIP-seq
MIRT1052596	hsa-miR-493	CLIP-seq
MIRT1052597	hsa-miR-653	CLIP-seq
MIRT1052598	hsa-miR-874	CLIP-seq
MIRT2011906	hsa-miR-1260	CLIP-seq
MIRT2011907	hsa-miR-1260b	CLIP-seq
MIRT2011908	hsa-miR-184	CLIP-seq
MIRT2011909	hsa-miR-188-3p	CLIP-seq
MIRT2011910	hsa-miR-3156-3p	CLIP-seq
MIRT2011911	hsa-miR-3174	CLIP-seq
MIRT2011912	hsa-miR-3978	CLIP-seq
MIRT2011913	hsa-miR-4261	CLIP-seq
MIRT2011914	hsa-miR-4481	CLIP-seq
MIRT2011915	hsa-miR-4745-5p	CLIP-seq
MIRT2011916	hsa-miR-4758-5p	CLIP-seq
MIRT2011917	hsa-miR-4804-5p	CLIP-seq
MIRT2011918	hsa-miR-582-3p	CLIP-seq
MIRT2244219	hsa-miR-3908	CLIP-seq
MIRT1052594	hsa-miR-409-3p	CLIP-seq
MIRT2244220	hsa-miR-4684-3p	CLIP-seq
MIRT1052591	hsa-miR-146b-3p	CLIP-seq
MIRT1052592	hsa-miR-217	CLIP-seq
MIRT1052593	hsa-miR-3173-5p	CLIP-seq
MIRT1052595	hsa-miR-4732-3p	CLIP-seq
MIRT1052598	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	18218901, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	25816005
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IBA
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IEA
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	TAS	9808458
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	25816005
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IEA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030160	Function	Synaptic receptor adaptor activity	IEA
GO:0030425	Component	Dendrite	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032426	Component	Stereocilium tip	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0032703	Process	Negative regulation of interleukin-2 production	IMP	18218901
GO:0035256	Function	G protein-coupled glutamate receptor binding	IBA
GO:0035256	Function	G protein-coupled glutamate receptor binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043229	Component	Intracellular organelle	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0045202	Component	Synapse	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IBA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IMP	18218901
GO:0098978	Component	Glutamatergic synapse	IEA
GO:2001256	Process	Regulation of store-operated calcium entry	IBA

Other IDs

• MIM: 604799
• HGNC: 17513
• e!Ensembl: ENSG00000103942

Protein

• UniProt ID: Q9NSB8
• Protein name: Homer protein homolog 2 (Homer-2) (Cupidin)
• Protein function: Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surfac
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00568	WH1	1 → 107	WH1 domain	Domain

• Sequence:

  MGEQPIFTTRAHVFQIDPNTKKNWMPASKQAVTVSYFYDVTRNSYRIISVDGAKVIINST
  ITPNMTFTKTSQKFGQWADSRANTVFGLGFSSEQQLTKFAEKFQEVKEAAKIAKDKTQEK
  IETSSNHSQESGRETPSSTQASSVNGTDDEKASHAGPANTHLKSENDKLKIALTQSAANV
  KKWEIELQTLRESNARLTTALQESAASVEQWKRQFSICRDENDRLRNKIDELEEQCSEIN
  REKEKNTQLKRRIEELEAELREKETELKDLRKQSEIIPQLMSECEYVSEKLEAAERDNQN
  LEDKVRSLKTDIEESKYRQRHLKVELKSFLEVLDGKIDDLHDFRRGLSKLGTDN

• Sequence length: 354

Pathways

KEGG:

FoxO signaling pathway
Glutamatergic synapse

Reactome:

Neurexins and neuroligins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant nonsyndromic hearing loss 68	Pathogenic	rs2051382999, rs864309524, rs2051382723	RCV001327994 RCV000202595 RCV001181995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 68	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOMER2-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	29050227		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	29891190		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25649652, 33522999	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28840895, 29109058		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28840895, 29109058		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27832625	Stimulate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24433040, 28364216		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24433040	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26132201, 29891190	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	9733850	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19247474, 26132489, 27494742		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29891190		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27832625	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27832625		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30888086		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20921022		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	20921022	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21636702		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21636702	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	40312319	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 68	Deafness	UNIPROT_DG	25816005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 68	Deafness	GENOMICS_ENGLAND_DG	25816005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 68	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 68	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	31511777		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31511777		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29891190		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26132201, 29891190	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26132201, 29891190		★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	39684270	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33809266	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33809266	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20921022		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27832625		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30888086		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23589395		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	16942544		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	17641957		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22527098, 24433040, 28364216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29891190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19247474, 26132489, 27494742		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24615730		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29790525		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18535109		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31723047	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24615730, 27494742		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22687812		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28364216		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	25816005, 30047143		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24615730		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37447386	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29050227		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19914345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19914345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30047143		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	20617533	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	29891190	Associate	★☆☆☆☆ Found in Text Mining only