Format

Send to:

Choose Destination

FHOD3 formin homology 2 domain containing 3 [ Homo sapiens (human) ]

Gene ID: 80206, updated on 4-Jun-2020

Summary

Official Symbol
FHOD3provided by HGNC
Official Full Name
formin homology 2 domain containing 3provided by HGNC
Primary source
HGNC:HGNC:26178
See related
Ensembl:ENSG00000134775 MIM:609691
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHOS2; Formactin2
Summary
The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]
Expression
Biased expression in heart (RPKM 23.5), prostate (RPKM 6.1) and 10 other tissues See more
Orthologs

Genomic context

See FHOD3 in Genome Data Viewer
Location:
18q12.2
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (36297713..36780220)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33877677..34360019)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene molybdenum cofactor sulfurase Neighboring gene WDR45-like pseudogene Neighboring gene RNA, U4 small nuclear 3, pseudogene Neighboring gene uncharacterized LOC105372071 Neighboring gene tubulin polyglutamylase complex subunit 2 Neighboring gene KIAA1328 Neighboring gene uncharacterized LOC105372069 Neighboring gene VISTA enhancer hs590

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA Catalog
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament network formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
FH1/FH2 domain-containing protein 3
Names
formactin-2
formin homolog overexpressed in spleen 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042837.1 RefSeqGene

    Range
    5018..487525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281739.3NP_001268668.1  FH1/FH2 domain-containing protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001268668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting isoform (2) is shorter missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AB084087, AC090333, AI948493, AK128053, BC081563, HY020952
    Consensus CDS
    CCDS62419.1
    UniProtKB/Swiss-Prot
    Q2V2M9
    Related
    ENSP00000352186.3, ENST00000359247.8
    Conserved Domains (1) summary
    pfam02181
    Location:8831254
    FH2; Formin Homology 2 Domain
  2. NM_001281740.3NP_001268669.1  FH1/FH2 domain-containing protein 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains additional in-frame coding exons compared to variant 1. The resulting longer isoform (3) is muscle-specific and required for the maintenance of myofibrils in heart muscle (PMID:21149568).
    Source sequence(s)
    AC090333, AC131053, AI948493, AK128053, BC031518, BC081563, HM191478, HY020952
    Consensus CDS
    CCDS62418.1
    UniProtKB/Swiss-Prot
    Q2V2M9
    Related
    ENSP00000466937.1, ENST00000590592.5
    Conserved Domains (1) summary
    pfam02181
    Location:10751446
    FH2; Formin Homology 2 Domain
  3. NM_025135.5NP_079411.2  FH1/FH2 domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_079411.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB051482, AC090333, AI948493, AK128053, BC031518, BC081563, HY020952
    Consensus CDS
    CCDS32816.1
    UniProtKB/Swiss-Prot
    Q2V2M9
    Related
    ENSP00000257209.3, ENST00000257209.8
    Conserved Domains (1) summary
    pfam02181
    Location:9001271
    FH2; Formin Homology 2 Domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    36297713..36780220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526190.2XP_011524492.1  FH1/FH2 domain-containing protein 3 isoform X2

    Conserved Domains (1) summary
    pfam02181
    Location:10951466
    FH2; Formin Homology 2 Domain
  2. XM_005258355.2XP_005258412.1  FH1/FH2 domain-containing protein 3 isoform X14

    See identical proteins and their annotated locations for XP_005258412.1

    UniProtKB/Swiss-Prot
    Q2V2M9
    Related
    ENSP00000468163.1, ENST00000592930.5
    Conserved Domains (1) summary
    pfam02181
    Location:8621233
    FH2; Formin Homology 2 Domain
  3. XM_011526189.1XP_011524491.1  FH1/FH2 domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    pfam02181
    Location:10951466
    FH2; Formin Homology 2 Domain
  4. XM_017026008.1XP_016881497.1  FH1/FH2 domain-containing protein 3 isoform X8

  5. XM_011526195.1XP_011524497.1  FH1/FH2 domain-containing protein 3 isoform X9

    Conserved Domains (1) summary
    pfam02181
    Location:9961367
    FH2; Formin Homology 2 Domain
  6. XM_011526192.1XP_011524494.1  FH1/FH2 domain-containing protein 3 isoform X3

    Conserved Domains (1) summary
    pfam02181
    Location:10701441
    FH2; Formin Homology 2 Domain
  7. XM_011526197.1XP_011524499.1  FH1/FH2 domain-containing protein 3 isoform X16

    Conserved Domains (1) summary
    pfam02181
    Location:10701441
    FH2; Formin Homology 2 Domain
  8. XM_005258349.1XP_005258406.1  FH1/FH2 domain-containing protein 3 isoform X6

    Conserved Domains (1) summary
    pfam02181
    Location:10121383
    FH2; Formin Homology 2 Domain
  9. XM_011526196.1XP_011524498.1  FH1/FH2 domain-containing protein 3 isoform X10

    Conserved Domains (1) summary
    pfam02181
    Location:9201291
    FH2; Formin Homology 2 Domain
  10. XM_017026009.1XP_016881498.1  FH1/FH2 domain-containing protein 3 isoform X11

  11. XM_005258354.1XP_005258411.1  FH1/FH2 domain-containing protein 3 isoform X12

    Conserved Domains (1) summary
    pfam02181
    Location:8621233
    FH2; Formin Homology 2 Domain
  12. XM_011526193.3XP_011524495.1  FH1/FH2 domain-containing protein 3 isoform X4

    Conserved Domains (1) summary
    pfam02181
    Location:10951466
    FH2; Formin Homology 2 Domain
  13. XM_017026006.2XP_016881495.1  FH1/FH2 domain-containing protein 3 isoform X5

  14. XM_017026010.1XP_016881499.1  FH1/FH2 domain-containing protein 3 isoform X15

    Conserved Domains (1) summary
    pfam02181
    Location:10171388
    FH2; Formin Homology 2 Domain
  15. XM_024451268.1XP_024307036.1  FH1/FH2 domain-containing protein 3 isoform X13

    Conserved Domains (2) summary
    pfam02181
    Location:9201291
    FH2; Formin Homology 2 Domain
    cl28033
    Location:156330
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  16. XM_017026007.1XP_016881496.1  FH1/FH2 domain-containing protein 3 isoform X7

Support Center