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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 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 deafness, autosomal dominant, 68 and autosomal dominant non-syndromic sensorineural deafness type dfna. Among its related pathways are Circadian entrainment and FoxO signaling pathway. GO annotations related to this gene include protein homodimerization activity and actin binding. An important paralog of this gene is HOMER3.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOMER2 Gene

Genomics for HOMER2 Gene

Regulatory Elements for HOMER2 Gene

Promoters for HOMER2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HOMER2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for HOMER2 Gene at MOPED

Post-translational modifications for HOMER2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOMER2 Gene

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.
  • Contains 1 WH1 domain.
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:0035256 G-protein coupled glutamate receptor binding IEA,IBA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with HOMER2: view
genes like me logo Genes that share phenotypes with HOMER2: view

Human Phenotype Ontology for HOMER2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOMER2 Gene

MGI Knock Outs for HOMER2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for HOMER2 Gene COMPARTMENTS Subcellular localization image for HOMER2 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for HOMER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA 25816005
GO:0014069 postsynaptic density IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body 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

Gene Ontology (GO) - Biological Process for HOMER2 Gene

None

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:

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 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, MOPED, and MaxQB for HOMER2 Gene



SOURCE GeneReport for Unigene cluster for HOMER2 Gene Hs.578443

genes like me logo Genes that share expression patterns with HOMER2: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 100 (a)
OneToOne
HOMER2 35
  • 98.34 (n)
  • 98.85 (a)
cow
(Bos Taurus)
Mammalia HOMER2 35
  • 89.99 (n)
  • 96.5 (a)
HOMER2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOMER2 36
  • 78 (a)
OneToOne
HOMER2 35
  • 90.81 (n)
  • 95.45 (a)
mouse
(Mus musculus)
Mammalia Homer2 16
Homer2 36
  • 94 (a)
OneToOne
Homer2 35
  • 89.92 (n)
  • 94.35 (a)
oppossum
(Monodelphis domestica)
Mammalia HOMER2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOMER2 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Homer2 35
  • 89.64 (n)
  • 95.2 (a)
chicken
(Gallus gallus)
Aves HOMER2 35
  • 78.41 (n)
  • 81.25 (a)
HOMER2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOMER2 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia homer2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia homer2 35
  • 72.41 (n)
  • 74.86 (a)
Str.13680 35
zebrafish
(Danio rerio)
Actinopterygii homer2 35
  • 69.11 (n)
  • 67.83 (a)
HOMER2 36
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010076 35
  • 57.25 (n)
  • 57.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta homer 35
  • 60.2 (n)
  • 54.1 (a)
homer 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for HOMER2:
  • 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:

Pseudogenes.org Pseudogenes for HOMER2 Gene

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
rs955620 -- 82,848,103(+) CCTTC(C/T)ATCCA intron-variant
rs1256426 -- 82,854,616(-) GCCCC(A/C/G)AGGCC intron-variant
rs1256427 -- 82,853,552(-) CTCCC(C/T)CTTGA intron-variant
rs1256428 -- 82,853,066(-) TTCAT(A/G)TCAAG intron-variant
rs1256429 -- 82,852,284(-) CTGGC(A/G)TCCCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv469557 CNV Complex 16826518
nsv471687 CNV Gain 15918152
nsv509578 CNV Insertion 20534489
esv2658853 CNV Deletion 23128226
nsv1641 CNV Insertion 18451855
esv2749958 CNV Deletion 23290073
esv269490 CNV Insertion 20981092
esv273062 CNV Insertion 20981092
esv2661148 CNV Deletion 23128226
nsv522673 CNV Loss 19592680
esv27643 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
HOMER2
Human Gene Mutation Database (HGMD)
HOMER2

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

Disorders for HOMER2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal dominant, 68
  • dfna68
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
congenital diaphragmatic hernia
  • diaphragmatic hernia
- 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 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 67
  2. 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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. (PMID: 21103663) Schaafhausen A. … MA1ller C.R. (Thromb. Haemost. 2011) 3

Products for HOMER2 Gene

Sources for HOMER2 Gene

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