1. Gene
  2. HOMER2 - homer scaffold protein 2 Gene

HOMER2 - homer scaffold protein 2 Gene

Homo sapiens

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

Gene ID: 9455 | Gene type: protein coding

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

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

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