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Protein

Homer protein homolog 2

Gene

HOMER2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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). Negatively regulates T cell activation through negative regulation of IL2 expression by inhibiting calcineurin-NFAT pathway activation through interaction with NFATC2 (PubMed:18218901).3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processHearing

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
SignaLinkiQ9NSB8

Names & Taxonomyi

Protein namesi
Recommended name:
Homer protein homolog 2Curated
Short name:
Homer-2
Alternative name(s):
CupidinBy similarity
Gene namesi
Name:HOMER2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000103942.12
HGNCiHGNC:17513 HOMER2
MIMi604799 gene
neXtProtiNX_Q9NSB8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 68 (DFNA68)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616707
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075751196R → P in DFNA68. 1 PublicationCorresponds to variant dbSNP:rs864309524EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi9455
MalaCardsiHOMER2
MIMi616707 phenotype
OpenTargetsiENSG00000103942
PharmGKBiPA134870500

Polymorphism and mutation databases

BioMutaiHOMER2
DMDMi38605067

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001910081 – 354Homer protein homolog 2Add BLAST354

Proteomic databases

EPDiQ9NSB8
MaxQBiQ9NSB8
PaxDbiQ9NSB8
PeptideAtlasiQ9NSB8
PRIDEiQ9NSB8
ProteomicsDBi82525
82526 [Q9NSB8-2]

PTM databases

iPTMnetiQ9NSB8
PhosphoSitePlusiQ9NSB8

Expressioni

Gene expression databases

BgeeiENSG00000103942 Expressed in 177 organ(s), highest expression level in body of pancreas
CleanExiHS_HOMER2
ExpressionAtlasiQ9NSB8 baseline and differential
GenevisibleiQ9NSB8 HS

Organism-specific databases

HPAiCAB079014
HPA040134

Interactioni

Subunit structurei

Forms coiled-coil structures that mediate homo- and heteromultimerization. Interacts with NFATC2; interaction is reduced by AKT activation (PubMed:18218901). Interacts with NFATC1 and NFATC4 (PubMed:18218901).1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114844, 14 interactors
IntActiQ9NSB8, 6 interactors
STRINGi9606.ENSP00000305632

Structurei

3D structure databases

ProteinModelPortaliQ9NSB8
SMRiQ9NSB8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 110WH1PROSITE-ProRule annotationAdd BLAST110

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili92 – 122Sequence analysisAdd BLAST31
Coiled coili160 – 329Sequence analysisAdd BLAST170

Domaini

The WH1 domain interacts with the PPXXF motif in GRM1, GRM5, RYR1, RYR2, ITPR1, SHANK 1 and SHANK3.

Sequence similaritiesi

Belongs to the Homer family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGRQ Eukaryota
ENOG410XQWT LUCA
GeneTreeiENSGT00390000017850
HOGENOMiHOG000006979
HOVERGENiHBG051918
InParanoidiQ9NSB8
KOiK15010
OMAiREKCNDQ
OrthoDBiEOG091G0CQ0
PhylomeDBiQ9NSB8
TreeFamiTF325627

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR000697 WH1/EVH1_dom
PfamiView protein in Pfam
PF00568 WH1, 1 hit
SMARTiView protein in SMART
SM00461 WH1, 1 hit
PROSITEiView protein in PROSITE
PS50229 WH1, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NSB8-1) [UniParc]FASTAAdd to basket
Also known as: 2b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGEQPIFTTR AHVFQIDPNT KKNWMPASKQ AVTVSYFYDV TRNSYRIISV
60 70 80 90 100
DGAKVIINST ITPNMTFTKT SQKFGQWADS RANTVFGLGF SSEQQLTKFA
110 120 130 140 150
EKFQEVKEAA KIAKDKTQEK IETSSNHSQE SGRETPSSTQ ASSVNGTDDE
160 170 180 190 200
KASHAGPANT HLKSENDKLK IALTQSAANV KKWEIELQTL RESNARLTTA
210 220 230 240 250
LQESAASVEQ WKRQFSICRD ENDRLRNKID ELEEQCSEIN REKEKNTQLK
260 270 280 290 300
RRIEELEAEL REKETELKDL RKQSEIIPQL MSECEYVSEK LEAAERDNQN
310 320 330 340 350
LEDKVRSLKT DIEESKYRQR HLKVELKSFL EVLDGKIDDL HDFRRGLSKL

GTDN
Length:354
Mass (Da):40,627
Last modified:October 1, 2000 - v1
Checksum:i33D258177F798373
GO
Isoform 2 (identifier: Q9NSB8-2) [UniParc]FASTAAdd to basket
Also known as: 2a

The sequence of this isoform differs from the canonical sequence as follows:
     130-140: Missing.

Show »
Length:343
Mass (Da):39,467
Checksum:i2980EBF0280F1772
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNR9H0YNR9_HUMAN
Homer protein homolog 2
HOMER2
185Annotation score:

Sequence cautioni

The sequence CAB75539 differs from that shown. Aberrant splicing.Curated
The sequence CAB75540 differs from that shown. Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti149D → E in AAC71027 (PubMed:9808458).Curated1
Sequence conflicti149D → E in AAC71028 (PubMed:9808458).Curated1
Sequence conflicti161H → Q in AAC71027 (PubMed:9808458).Curated1
Sequence conflicti161H → Q in AAC71028 (PubMed:9808458).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075751196R → P in DFNA68. 1 PublicationCorresponds to variant dbSNP:rs864309524EnsemblClinVar.1
Natural variantiVAR_053366219R → H. Corresponds to variant dbSNP:rs7175005EnsemblClinVar.1
Natural variantiVAR_053367239I → S. Corresponds to variant dbSNP:rs17158223Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_041731130 – 140Missing in isoform 2. 4 PublicationsAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF093263 mRNA Translation: AAC71027.1
AF093264 mRNA Translation: AAC71028.1
Y19025 mRNA Translation: CAB75537.1
Y19026 mRNA Translation: CAB75538.1
Y19027 mRNA Translation: CAB75539.1 Sequence problems.
Y19028 mRNA Translation: CAB75540.1 Sequence problems.
AF081530 mRNA Translation: AAD13748.1
AC022558 Genomic DNA No translation available.
AC044907 Genomic DNA No translation available.
BC012109 mRNA Translation: AAH12109.1
CCDSiCCDS45334.1 [Q9NSB8-1]
CCDS45336.1 [Q9NSB8-2]
RefSeqiNP_004830.2, NM_004839.3 [Q9NSB8-2]
NP_955362.1, NM_199330.2 [Q9NSB8-1]
UniGeneiHs.578443
Hs.729618
Hs.736981

Genome annotation databases

EnsembliENST00000304231; ENSP00000305632; ENSG00000103942 [Q9NSB8-1]
ENST00000450735; ENSP00000407634; ENSG00000103942 [Q9NSB8-2]
GeneIDi9455
KEGGihsa:9455
UCSCiuc002bjg.4 human [Q9NSB8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF093263 mRNA Translation: AAC71027.1
AF093264 mRNA Translation: AAC71028.1
Y19025 mRNA Translation: CAB75537.1
Y19026 mRNA Translation: CAB75538.1
Y19027 mRNA Translation: CAB75539.1 Sequence problems.
Y19028 mRNA Translation: CAB75540.1 Sequence problems.
AF081530 mRNA Translation: AAD13748.1
AC022558 Genomic DNA No translation available.
AC044907 Genomic DNA No translation available.
BC012109 mRNA Translation: AAH12109.1
CCDSiCCDS45334.1 [Q9NSB8-1]
CCDS45336.1 [Q9NSB8-2]
RefSeqiNP_004830.2, NM_004839.3 [Q9NSB8-2]
NP_955362.1, NM_199330.2 [Q9NSB8-1]
UniGeneiHs.578443
Hs.729618
Hs.736981

3D structure databases

ProteinModelPortaliQ9NSB8
SMRiQ9NSB8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114844, 14 interactors
IntActiQ9NSB8, 6 interactors
STRINGi9606.ENSP00000305632

PTM databases

iPTMnetiQ9NSB8
PhosphoSitePlusiQ9NSB8

Polymorphism and mutation databases

BioMutaiHOMER2
DMDMi38605067

Proteomic databases

EPDiQ9NSB8
MaxQBiQ9NSB8
PaxDbiQ9NSB8
PeptideAtlasiQ9NSB8
PRIDEiQ9NSB8
ProteomicsDBi82525
82526 [Q9NSB8-2]

Protocols and materials databases

DNASUi9455
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304231; ENSP00000305632; ENSG00000103942 [Q9NSB8-1]
ENST00000450735; ENSP00000407634; ENSG00000103942 [Q9NSB8-2]
GeneIDi9455
KEGGihsa:9455
UCSCiuc002bjg.4 human [Q9NSB8-1]

Organism-specific databases

CTDi9455
DisGeNETi9455
EuPathDBiHostDB:ENSG00000103942.12
GeneCardsiHOMER2
H-InvDBiHIX0037900
HGNCiHGNC:17513 HOMER2
HPAiCAB079014
HPA040134
MalaCardsiHOMER2
MIMi604799 gene
616707 phenotype
neXtProtiNX_Q9NSB8
OpenTargetsiENSG00000103942
PharmGKBiPA134870500
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGRQ Eukaryota
ENOG410XQWT LUCA
GeneTreeiENSGT00390000017850
HOGENOMiHOG000006979
HOVERGENiHBG051918
InParanoidiQ9NSB8
KOiK15010
OMAiREKCNDQ
OrthoDBiEOG091G0CQ0
PhylomeDBiQ9NSB8
TreeFamiTF325627

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
SignaLinkiQ9NSB8

Miscellaneous databases

ChiTaRSiHOMER2 human
GeneWikiiHOMER2
GenomeRNAii9455
PROiPR:Q9NSB8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103942 Expressed in 177 organ(s), highest expression level in body of pancreas
CleanExiHS_HOMER2
ExpressionAtlasiQ9NSB8 baseline and differential
GenevisibleiQ9NSB8 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR000697 WH1/EVH1_dom
PfamiView protein in Pfam
PF00568 WH1, 1 hit
SMARTiView protein in SMART
SM00461 WH1, 1 hit
PROSITEiView protein in PROSITE
PS50229 WH1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHOME2_HUMAN
AccessioniPrimary (citable) accession number: Q9NSB8
Secondary accession number(s): O95269
, O95349, Q9NSB6, Q9NSB7, Q9UNT7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: October 1, 2000
Last modified: October 10, 2018
This is version 150 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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