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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9455
Gene name	Homer scaffold protein 2
Gene symbol	HOMER2
Synonyms (NCBI Gene)	ACPDCPDDFNA68HOMER-2VESL-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

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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, 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

MIM	HGNC	e!Ensembl
604799	17513	ENSG00000103942

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 68	Pathogenic	rs2051382999, rs864309524, rs2051382723	RCV001327994 RCV000202595 RCV001181995

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs74416301	RCV005898870
Cervical cancer	Benign	rs74416301	RCV005898873
Clear cell carcinoma of kidney	Benign	rs74416301	RCV005898874
HOMER2-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs114358665, rs76145073, rs2505109303, rs192670592, rs199617276, rs767516680, rs200675187, rs774045431, rs200964994, rs11629943, rs74416301, rs375487342, rs78459107, rs201330165, rs200280749	RCV003941064 RCV003951068 RCV003391315 RCV003414209 RCV003966516 RCV003981581 RCV003922138 RCV003971794 RCV003915729 RCV003952988 RCV003917909 RCV003962794 RCV003917908 RCV003928296 RCV004753263
Lung cancer	Benign; Likely benign	rs199975432, rs74416301	RCV005920802 RCV005898879
Malignant lymphoma, large B-cell, diffuse	Benign	rs12594415	RCV005920168
Malignant tumor of esophagus	Benign	rs74416301	RCV005898871
Nonpapillary renal cell carcinoma	Benign	rs74416301	RCV005898872
Ovarian serous cystadenocarcinoma	Benign	rs74416301	RCV005898876
Sarcoma	Benign	rs74416301	RCV005898875
Thymoma	Benign	rs74416301	RCV005898877
Thyroid cancer, nonmedullary, 1	Benign	rs74416301	RCV005898878
Uterine corpus endometrial carcinoma	Benign	rs74416301	RCV005898880

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)