Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HOMER2 Gene

Aliases for HOMER2 Gene

  • Homer Scaffolding Protein 2 2 3 5
  • HOMER-2 3 4
  • Cupidin 3 4
  • Homer, Neuronal Immediate Early Gene, 2 3
  • Homer Homolog 2 (Drosophila) 2
  • Homer Protein Homolog 2 3
  • Homer Homolog 2 3
  • Homer Homolog 3 3
  • DFNA68 3
  • VESL-2 3
  • ACPD 3
  • CPD 3

External Ids for HOMER2 Gene

Previous GeneCards Identifiers for HOMER2 Gene

  • GC15M076556
  • GC15M081102
  • GC15M081243
  • GC15M081314
  • GC15M083517
  • GC15M059787

Summaries for HOMER2 Gene

Entrez Gene Summary for HOMER2 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 multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]

GeneCards Summary for HOMER2 Gene

HOMER2 (Homer Scaffolding Protein 2) is a Protein Coding gene. Diseases associated with HOMER2 include Autosomal Dominant Nonsyndromic Deafness 68 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Protein-protein interactions at synapses and FoxO signaling pathway. GO annotations related to this gene include protein homodimerization activity and actin binding. An important paralog of this gene is HOMER1.

UniProtKB/Swiss-Prot for HOMER2 Gene

  • 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 surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses (PubMed:9808459). Required for normal hearing (PubMed:25816005).

Gene Wiki entry for HOMER2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOMER2 Gene

Genomics for HOMER2 Gene

Regulatory Elements for HOMER2 Gene

Enhancers for HOMER2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G082916 1.2 ENCODE dbSUPER 36.9 +66.8 66826 6.0 PKNOX1 FOXA2 MLX SIN3A DMAP1 ZNF48 YY1 ELK1 GATA2 JUNB HOMER2 FAM103A1 BTBD1 AP3B2 PIR42152 GC15M082906
GH15G082985 1.1 ENCODE 19.5 -0.1 -103 2.0 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF263 SP3 MXD4 FAM103A1 HOMER2 AP3B2 GOLGA6L10 GC15M082990
GH15G083010 1.1 ENCODE 16.1 -25.3 -25299 2.8 HDGF CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B FAM103A1 SNHG21 C15orf40 CPEB1 CPEB1-AS1 AP3B2 WHAMM ENSG00000260579 HOMER2 BTBD1
GH15G082848 1.3 Ensembl ENCODE 11.1 +136.1 136095 2.2 HNRNPUL1 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FAM103A1 C15orf40 HOMER2 FSD2 GOLGA6L9 GC15M082841 GC15P082870
GH15G083091 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.6 -106.6 -106577 1.6 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 FOS NCOA1 REST ZNF592 BTBD1 HOMER2 TM6SF1 GC15P083143
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HOMER2 on UCSC Golden Path with GeneCards custom track

Promoters for HOMER2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080267 -239 1601 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF263 SP3 MXD4

Genomic Location for HOMER2 Gene

Chromosome:
15
Start:
82,836,946 bp from pter
End:
82,986,161 bp from pter
Size:
149,216 bases
Orientation:
Minus strand

Genomic View for HOMER2 Gene

Genes around HOMER2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOMER2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOMER2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOMER2 Gene

Proteins for HOMER2 Gene

  • Protein details for HOMER2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSB8-HOME2_HUMAN
    Recommended name:
    Homer protein homolog 2
    Protein Accession:
    Q9NSB8
    Secondary Accessions:
    • O95269
    • O95349
    • Q9NSB6
    • Q9NSB7
    • Q9UNT7

    Protein attributes for HOMER2 Gene

    Size:
    354 amino acids
    Molecular mass:
    40627 Da
    Quaternary structure:
    • Forms coiled-coil structures that mediate homo- and heteromultimerization.
    SequenceCaution:
    • Sequence=CAB75539.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAB75540.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for HOMER2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOMER2 Gene

Post-translational modifications for HOMER2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HOMER2 Gene

Domains & Families for HOMER2 Gene

Gene Families for HOMER2 Gene

Protein Domains for HOMER2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HOMER2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NSB8

UniProtKB/Swiss-Prot:

HOME2_HUMAN :
  • The WH1 domain interacts with the PPXXF motif in GRM1, GRM5, RYR1, RYR2, ITPR1, SHANK 1 and SHANK3.
  • Belongs to the Homer family.
Domain:
  • The WH1 domain interacts with the PPXXF motif in GRM1, GRM5, RYR1, RYR2, ITPR1, SHANK 1 and SHANK3.
Family:
  • Belongs to the Homer family.
genes like me logo Genes that share domains with HOMER2: view

Function for HOMER2 Gene

Molecular function for HOMER2 Gene

UniProtKB/Swiss-Prot 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 surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses (PubMed:9808459). Required for normal hearing (PubMed:25816005).

Gene Ontology (GO) - Molecular Function for HOMER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0019904 protein domain specific binding IEA --
GO:0030160 GKAP/Homer scaffold activity IEA --
GO:0035254 glutamate receptor binding IEA --
genes like me logo Genes that share ontologies with HOMER2: view
genes like me logo Genes that share phenotypes with HOMER2: view

Animal Models for HOMER2 Gene

MGI Knock Outs for HOMER2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOMER2 Gene

Localization for HOMER2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOMER2 Gene

Cytoplasm. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Cell projection, stereocilium. Note=Postsynaptic density of neuronal cells. The stabilization and clustering of the metabotropic glutamate receptors appears to be mediated by isoform 1 and isoform 2 at the cell surface.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOMER2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HOMER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 25816005
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HOMER2: view

Pathways & Interactions for HOMER2 Gene

genes like me logo Genes that share pathways with HOMER2: view

Pathways by source for HOMER2 Gene

Gene Ontology (GO) - Biological Process for HOMER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007216 G-protein coupled glutamate receptor signaling pathway TAS 9808458
GO:0007605 sensory perception of sound IMP 25816005
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway IEA --
GO:0035584 calcium-mediated signaling using intracellular calcium source IEA --
GO:0048148 behavioral response to cocaine IEA --
genes like me logo Genes that share ontologies with HOMER2: view

No data available for SIGNOR curated interactions for HOMER2 Gene

Drugs & Compounds for HOMER2 Gene

(1) Drugs for HOMER2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with HOMER2: view

Transcripts for HOMER2 Gene

Unigene Clusters for HOMER2 Gene

Homer homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HOMER2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for HOMER2 Gene

GeneLoc Exon Structure for
HOMER2
ECgene alternative splicing isoforms for
HOMER2

Expression for HOMER2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HOMER2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOMER2 Gene

This gene is overexpressed in Pancreas (x10.1).

Protein differential expression in normal tissues from HIPED for HOMER2 Gene

This gene is overexpressed in Cervix (37.9), Frontal cortex (12.7), and Prostate (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HOMER2 Gene



NURSA nuclear receptor signaling pathways regulating expression of HOMER2 Gene:

HOMER2

SOURCE GeneReport for Unigene cluster for HOMER2 Gene:

Hs.578443

Evidence on tissue expression from TISSUES for HOMER2 Gene

  • Nervous system(4.6)
  • Lung(4.2)
  • Muscle(2.3)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HOMER2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with HOMER2: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HOMER2 Gene

Orthologs for HOMER2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOMER2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOMER2 34 35
  • 98.34 (n)
dog
(Canis familiaris)
Mammalia HOMER2 34 35
  • 90.81 (n)
oppossum
(Monodelphis domestica)
Mammalia HOMER2 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HOMER2 34 35
  • 89.99 (n)
mouse
(Mus musculus)
Mammalia Homer2 34 16 35
  • 89.92 (n)
rat
(Rattus norvegicus)
Mammalia Homer2 34
  • 89.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HOMER2 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOMER2 34 35
  • 78.41 (n)
lizard
(Anolis carolinensis)
Reptilia HOMER2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia homer2 34
  • 72.41 (n)
Str.13680 34
African clawed frog
(Xenopus laevis)
Amphibia homer2-prov 34
zebrafish
(Danio rerio)
Actinopterygii homer2 34
  • 69.11 (n)
HOMER2 35
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta homer 34 35
  • 60.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010076 34
  • 57.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for HOMER2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOMER2 Gene

ENSEMBL:
Gene Tree for HOMER2 (if available)
TreeFam:
Gene Tree for HOMER2 (if available)

Paralogs for HOMER2 Gene

Paralogs for HOMER2 Gene

(2) SIMAP similar genes for HOMER2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with HOMER2: view

Variants for HOMER2 Gene

Sequence variations from dbSNP and Humsavar for HOMER2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs864309524 Pathogenic, Deafness, autosomal dominant, 68 (DFNA68) [MIM:616707] 82,854,741(-) TGCAC(C/G)GCTGA reference, missense
rs1000016975 -- 82,985,576(+) GTATT(-/AAC)AAAAA intron-variant, upstream-variant-2KB
rs1000033747 -- 82,898,801(+) ACTTA(C/T)AATTC intron-variant
rs1000051941 -- 82,857,766(+) AGGGG(A/G)GCTTC intron-variant
rs1000056914 -- 82,977,152(+) CAAAT(G/T)ATAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HOMER2 Gene

Variant ID Type Subtype PubMed ID
dgv1256n106 CNV deletion 24896259
esv2658853 CNV deletion 23128226
esv2661148 CNV deletion 23128226
esv2749958 CNV deletion 23290073
esv27643 CNV loss 19812545
esv3220457 CNV deletion 24192839
esv3305212 CNV mobile element insertion 20981092
esv3308789 CNV mobile element insertion 20981092
esv3375746 CNV insertion 20981092
esv3401795 CNV insertion 20981092
esv3552767 CNV deletion 23714750
esv3637062 CNV loss 21293372
esv3637063 CNV gain 21293372
esv3637064 CNV loss 21293372
esv3637065 CNV gain 21293372
nsv1069881 CNV deletion 25765185
nsv1120052 OTHER inversion 24896259
nsv1153578 CNV deletion 26484159
nsv1641 CNV insertion 18451855
nsv469557 CNV loss 16826518
nsv471687 CNV gain 15918152
nsv509578 CNV insertion 20534489
nsv522673 CNV loss 19592680
nsv952014 CNV duplication 24416366
nsv958806 CNV deletion 24416366

Variation tolerance for HOMER2 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 59.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOMER2 Gene

Human Gene Mutation Database (HGMD)
HOMER2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOMER2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOMER2 Gene

Disorders for HOMER2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HOMER2 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant nonsyndromic deafness 68
  • autosomal dominant deafness 68
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
congenital diaphragmatic hernia
  • diaphragmatic hernia
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HOME2_HUMAN
  • Deafness, autosomal dominant, 68 (DFNA68) [MIM:616707]: A form of non-syndromic sensorineural hearing loss with postlingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:25816005}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HOMER2

Genetic Association Database (GAD)
HOMER2
Human Genome Epidemiology (HuGE) Navigator
HOMER2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOMER2
genes like me logo Genes that share disorders with HOMER2: view

No data available for Genatlas for HOMER2 Gene

Publications for HOMER2 Gene

  1. Homer regulates the association of group 1 metabotropic glutamate receptors with multivalent complexes of homer-related, synaptic proteins. (PMID: 9808458) Xiao B. … Worley P.F. (Neuron 1998) 2 3 4 64
  2. Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors. (PMID: 9808459) Tu J.C. … Worley P.F. (Neuron 1998) 2 3 4 64
  3. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. (PMID: 25816005) Azaiez H. … Smith R.J. (PLoS Genet. 2015) 3 4 64
  4. No association of alcohol dependence with HOMER 1 and 2 genetic variants. (PMID: 20333726) Preuss U.W. … Zill P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  5. Replicated genetic evidence supports a role for HOMER2 in schizophrenia. (PMID: 19914345) Gilks W.P. … Morris D.W. (Neurosci. Lett. 2010) 3 46 64

Products for HOMER2 Gene

Sources for HOMER2 Gene

Content
Loading form....