Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9455
Gene name Gene Name - the full gene name approved by the HGNC.	Homer scaffold protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HOMER2
Synonyms (NCBI Gene) Gene synonyms aliases	ACPD, CPD, DFNA68, HOMER-2, VESL-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNA68
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q25.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	18218901, 25416956
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	25816005
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IBA	21873635
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	21873635
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030160	Function	Synaptic receptor adaptor activity	IEA
GO:0030425	Component	Dendrite	IBA	21873635
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	21873635
GO:0035584	Process	Calcium-mediated signaling using intracellular calcium source	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043229	Component	Intracellular organelle	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048875	Process	Chemical homeostasis within a tissue	IEA
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	21873635

MIM	HGNC	e!Ensembl
604799	17513	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

Interactions

View interactions

	KEGG		Reactome
	FoxO signaling pathway Glutamatergic synapse		Neurexins and neuroligins

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Deafness	DEAFNESS, AUTOSOMAL DOMINANT 68	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)	25816005
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	30047143, 25816005
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	19914345

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Bipolar Disorder	Bipolar Disorder	GWAS
Sarcoidosis	Sarcoidosis	GWAS

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenoma	Associate	21636702
Alzheimer Disease	Associate	25649652, 33522999
Atherosclerosis	Stimulate	27832625
Carcinoma Endometrioid	Associate	26132201, 29891190
Carcinoma Non Small Cell Lung	Associate	26462029
Cerebral Infarction	Associate	27832625
Cognition Disorders	Associate	20921022
Colorectal Neoplasms	Associate	21636702
Crohn Disease	Associate	40312319
Death	Associate	26462029
Endometrial Neoplasms	Associate	26132201, 29891190
Hearing Disorders	Associate	39684270
Hearing Loss	Associate	33809266
Hearing Loss	Stimulate	33809266
Hernias Diaphragmatic Congenital	Associate	20921022
Neoplasms	Associate	29891190, 37522128
Neuroendocrine Tumors	Associate	37522128
Uterine Neoplasms	Associate	29891190

HOMER2 (homer scaffold protein 2)