HOMER2 - homer scaffold protein 2 Gene

Also Known as CPD; ACPD; DFNA68; VESL-2; HOMER-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9455

About HOMER2

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,834,661-82,986,157 (from NCBI)

This gene has 10 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in prostate (RPKM 9.3), pancreas (RPKM 6.8) and 16 other tissues.

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

HOMER2 Products (2)

mRNA Protein Name
NM_004839.4 NP_004830.2 homer protein homolog 2 isoform 1
NM_199330.3 NP_955362.1 homer protein homolog 2 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
18218901 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of calcineurin-NFAT signaling cascade IMP
IMP: Inferred from mutant phenotype
18218901 GOA
involved in negative regulation of interleukin-2 production IMP
IMP: Inferred from mutant phenotype
18218901 GOA
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
25816005 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
25816005 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HOMER2 Protein Structure

WH1

WH1: WH1 domain (4 - 106)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
Protein Preferred Names Protein Names

homer protein homolog 2

  • cupidin

HOMER2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HOMER2 Q9NSB8 RNF41 Homo sapiens Q9H4P4 25416956
Intra
HOMER2 Q9NSB8 RNF41 Homo sapiens Q9H4P4 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Deafness, Autosomal Dominant 68
  • DFNA68

  • Autosomal Dominant Nonsyndromic Deafness 68

  • Autosomal Dominant Deafness 68

  • Deafness, Autosomal Dominant, 68

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna
  • Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

  • Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

  • Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Recessive 104
  • DFNB104

  • Autosomal Recessive Nonsyndromic Deafness 104

  • Autosomal Recessive Deafness 104

  • Deafness, Autosomal Recessive, 104

  • Deafness, Autosomal Recessive, Type 104

Achilles Bursitis
  • Achilles Bursitis Or Tendinitis

  • Capped Hock

  • Haglund'S Deformity

  • Haglund'S Disease

  • Osteochondritis Of The Talus

Deafness, Autosomal Dominant 67
  • DFNA67

  • Autosomal Dominant Nonsyndromic Deafness 67

  • Autosomal Dominant Deafness 67

  • Deafness, Autosomal Dominant, 67

  • Deafness, Autosomal Dominant, Type 67

Diamond-Blackfan Anemia 4
  • DBA4

  • Rps17-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 4

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Non-Syndromic X-Linked Intellectual Disability
  • X-Linked Non-Syndromic Intellectual Disability

  • Non-Specific X-Linked Mental Retardation

  • X-Linked Non-Specific Intellectual Disability

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta HOMER2 VGNC VGNC:73406
Bos taurus HOMER2 VGNC VGNC:29902
Mus musculus HOMER2 MGD MGI:1347354
Felis catus HOMER2 VGNC VGNC:62831
Rattus norvegicus HOMER2 RGD RGD:620705
Others HOMER2 NCBI