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

    Gene ID: 80206, updated on 13-May-2024

    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; AllianceGenome:HGNC:26178
    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
    CMH28; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FHOD3 in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (36297713..36780220)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (36489301..36973364)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33877676..34360183)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene molybdenum cofactor sulfurase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:33876522-33877499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9404 Neighboring gene WDR45-like pseudogene Neighboring gene RNA, U4 small nuclear 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13236 Neighboring gene MPRA-validated peak3117 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34050630-34051186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13238 Neighboring gene MPRA-validated peak3119 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34098259-34098446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34098790-34099369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34099370-34099948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13240 Neighboring gene uncharacterized LOC105372071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13241 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34254255-34254481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34287179-34287680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13242 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34349653-34349798 Neighboring gene NANOG hESC enhancer GRCh37_chr18:34367445-34367994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13243 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:34408535-34409327 Neighboring gene tubulin polyglutamylase complex subunit 2 Neighboring gene KIAA1328 Neighboring gene uncharacterized LOC105372069 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34527890-34528524 Neighboring gene uncharacterized LOC124904287

    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

    Associated conditions

    Description Tests
    Cardiomyopathy, familial hypertrophic, 28
    MedGen: C5543616 OMIM: 619402 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A8MQT4, E5F5Q0, Q2V2M9, Q642I2, Q6ZRQ7, Q86TF9, Q8N3A5, Q9C0G8, Q9H604, Q9H6G7
      UniProtKB/TrEMBL
      K7ER94
      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, ENST00000590592.6
      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/TrEMBL
      K7ER94
      Related
      ENSP00000257209.3, ENST00000257209.8
      Conserved Domains (1) summary
      pfam02181
      Location:9001271
      FH2; Formin Homology 2 Domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011526189.2XP_011524491.1  FH1/FH2 domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      pfam02181
      Location:10951466
      FH2; Formin Homology 2 Domain
    2. XM_011526190.3XP_011524492.1  FH1/FH2 domain-containing protein 3 isoform X2

      Conserved Domains (1) summary
      pfam02181
      Location:10951466
      FH2; Formin Homology 2 Domain
    3. XM_017026008.2XP_016881497.1  FH1/FH2 domain-containing protein 3 isoform X15

    4. XM_011526195.2XP_011524497.1  FH1/FH2 domain-containing protein 3 isoform X16

      Conserved Domains (1) summary
      pfam02181
      Location:9961367
      FH2; Formin Homology 2 Domain
    5. XM_047437844.1XP_047293800.1  FH1/FH2 domain-containing protein 3 isoform X17

    6. XM_047437838.1XP_047293794.1  FH1/FH2 domain-containing protein 3 isoform X5

    7. XM_011526192.2XP_011524494.1  FH1/FH2 domain-containing protein 3 isoform X3

      Conserved Domains (1) summary
      pfam02181
      Location:10701441
      FH2; Formin Homology 2 Domain
    8. XM_011526197.2XP_011524499.1  FH1/FH2 domain-containing protein 3 isoform X6

      Conserved Domains (1) summary
      pfam02181
      Location:10701441
      FH2; Formin Homology 2 Domain
    9. XM_047437840.1XP_047293796.1  FH1/FH2 domain-containing protein 3 isoform X8

    10. XM_047437841.1XP_047293797.1  FH1/FH2 domain-containing protein 3 isoform X9

    11. XM_047437845.1XP_047293801.1  FH1/FH2 domain-containing protein 3 isoform X18

    12. XM_047437842.1XP_047293798.1  FH1/FH2 domain-containing protein 3 isoform X10

    13. XM_047437846.1XP_047293802.1  FH1/FH2 domain-containing protein 3 isoform X19

    14. XM_005258349.2XP_005258406.1  FH1/FH2 domain-containing protein 3 isoform X13

      Conserved Domains (1) summary
      pfam02181
      Location:10121383
      FH2; Formin Homology 2 Domain
    15. XM_011526196.2XP_011524498.1  FH1/FH2 domain-containing protein 3 isoform X20

      UniProtKB/TrEMBL
      K7ER94
      Conserved Domains (1) summary
      pfam02181
      Location:9201291
      FH2; Formin Homology 2 Domain
    16. XM_017026009.2XP_016881498.1  FH1/FH2 domain-containing protein 3 isoform X22

      UniProtKB/TrEMBL
      K7ER94
    17. XM_047437853.1XP_047293809.1  FH1/FH2 domain-containing protein 3 isoform X31

    18. XM_047437854.1XP_047293810.1  FH1/FH2 domain-containing protein 3 isoform X32

    19. XM_047437856.1XP_047293812.1  FH1/FH2 domain-containing protein 3 isoform X34

    20. XM_047437848.1XP_047293804.1  FH1/FH2 domain-containing protein 3 isoform X23

    21. XM_047437855.1XP_047293811.1  FH1/FH2 domain-containing protein 3 isoform X33

    22. XM_047437857.1XP_047293813.1  FH1/FH2 domain-containing protein 3 isoform X35

    23. XM_047437863.1XP_047293819.1  FH1/FH2 domain-containing protein 3 isoform X41

    24. XM_005258354.2XP_005258411.1  FH1/FH2 domain-containing protein 3 isoform X25

      UniProtKB/TrEMBL
      K7ER94
      Conserved Domains (1) summary
      pfam02181
      Location:8621233
      FH2; Formin Homology 2 Domain
    25. XM_005258355.3XP_005258412.1  FH1/FH2 domain-containing protein 3 isoform X26

      See identical proteins and their annotated locations for XP_005258412.1

      UniProtKB/TrEMBL
      K7ER94
      Conserved Domains (1) summary
      pfam02181
      Location:8621233
      FH2; Formin Homology 2 Domain
    26. XM_047437858.1XP_047293814.1  FH1/FH2 domain-containing protein 3 isoform X36

    27. XM_047437860.1XP_047293816.1  FH1/FH2 domain-containing protein 3 isoform X38

    28. XM_047437851.1XP_047293807.1  FH1/FH2 domain-containing protein 3 isoform X28

    29. XM_047437859.1XP_047293815.1  FH1/FH2 domain-containing protein 3 isoform X37

    30. XM_047437861.1XP_047293817.1  FH1/FH2 domain-containing protein 3 isoform X39

    31. XM_047437839.1XP_047293795.1  FH1/FH2 domain-containing protein 3 isoform X7

    32. XM_047437843.1XP_047293799.1  FH1/FH2 domain-containing protein 3 isoform X11

    33. XM_047437849.1XP_047293805.1  FH1/FH2 domain-containing protein 3 isoform X24

    34. XM_047437850.1XP_047293806.1  FH1/FH2 domain-containing protein 3 isoform X27

    35. XM_047437852.1XP_047293808.1  FH1/FH2 domain-containing protein 3 isoform X29

    36. XM_011526193.4XP_011524495.1  FH1/FH2 domain-containing protein 3 isoform X4

      Conserved Domains (1) summary
      pfam02181
      Location:10951466
      FH2; Formin Homology 2 Domain
    37. XM_017026006.3XP_016881495.1  FH1/FH2 domain-containing protein 3 isoform X12

    38. XM_017026010.2XP_016881499.1  FH1/FH2 domain-containing protein 3 isoform X30

      Conserved Domains (1) summary
      pfam02181
      Location:10171388
      FH2; Formin Homology 2 Domain
    39. XM_024451268.2XP_024307036.1  FH1/FH2 domain-containing protein 3 isoform X21

      UniProtKB/TrEMBL
      K7ER94
      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
    40. XM_047437862.1XP_047293818.1  FH1/FH2 domain-containing protein 3 isoform X40

      Related
      ENSP00000468163.1, ENST00000592930.5
    41. XM_017026007.2XP_016881496.1  FH1/FH2 domain-containing protein 3 isoform X14

    42. XM_047437847.1XP_047293803.1  FH1/FH2 domain-containing protein 3 isoform X21

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      36489301..36973364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319163.1XP_054175138.1  FH1/FH2 domain-containing protein 3 isoform X1

    2. XM_054319164.1XP_054175139.1  FH1/FH2 domain-containing protein 3 isoform X2

    3. XM_054319177.1XP_054175152.1  FH1/FH2 domain-containing protein 3 isoform X15

    4. XM_054319178.1XP_054175153.1  FH1/FH2 domain-containing protein 3 isoform X16

    5. XM_054319179.1XP_054175154.1  FH1/FH2 domain-containing protein 3 isoform X17

    6. XM_054319167.1XP_054175142.1  FH1/FH2 domain-containing protein 3 isoform X5

    7. XM_054319165.1XP_054175140.1  FH1/FH2 domain-containing protein 3 isoform X3

    8. XM_054319168.1XP_054175143.1  FH1/FH2 domain-containing protein 3 isoform X6

    9. XM_054319170.1XP_054175145.1  FH1/FH2 domain-containing protein 3 isoform X8

    10. XM_054319171.1XP_054175146.1  FH1/FH2 domain-containing protein 3 isoform X9

    11. XM_054319180.1XP_054175155.1  FH1/FH2 domain-containing protein 3 isoform X18

    12. XM_054319172.1XP_054175147.1  FH1/FH2 domain-containing protein 3 isoform X10

    13. XM_054319181.1XP_054175156.1  FH1/FH2 domain-containing protein 3 isoform X19

    14. XM_054319175.1XP_054175150.1  FH1/FH2 domain-containing protein 3 isoform X13

    15. XM_054319182.1XP_054175157.1  FH1/FH2 domain-containing protein 3 isoform X20

    16. XM_054319185.1XP_054175160.1  FH1/FH2 domain-containing protein 3 isoform X22

    17. XM_054319194.1XP_054175169.1  FH1/FH2 domain-containing protein 3 isoform X31

    18. XM_054319195.1XP_054175170.1  FH1/FH2 domain-containing protein 3 isoform X32

    19. XM_054319197.1XP_054175172.1  FH1/FH2 domain-containing protein 3 isoform X34

    20. XM_054319186.1XP_054175161.1  FH1/FH2 domain-containing protein 3 isoform X23

    21. XM_054319196.1XP_054175171.1  FH1/FH2 domain-containing protein 3 isoform X33

    22. XM_054319198.1XP_054175173.1  FH1/FH2 domain-containing protein 3 isoform X35

    23. XM_054319204.1XP_054175179.1  FH1/FH2 domain-containing protein 3 isoform X41

    24. XM_054319188.1XP_054175163.1  FH1/FH2 domain-containing protein 3 isoform X25

    25. XM_054319189.1XP_054175164.1  FH1/FH2 domain-containing protein 3 isoform X26

    26. XM_054319199.1XP_054175174.1  FH1/FH2 domain-containing protein 3 isoform X36

    27. XM_054319201.1XP_054175176.1  FH1/FH2 domain-containing protein 3 isoform X38

    28. XM_054319191.1XP_054175166.1  FH1/FH2 domain-containing protein 3 isoform X28

    29. XM_054319200.1XP_054175175.1  FH1/FH2 domain-containing protein 3 isoform X37

    30. XM_054319202.1XP_054175177.1  FH1/FH2 domain-containing protein 3 isoform X39

    31. XM_054319169.1XP_054175144.1  FH1/FH2 domain-containing protein 3 isoform X7

    32. XM_054319173.1XP_054175148.1  FH1/FH2 domain-containing protein 3 isoform X11

    33. XM_054319187.1XP_054175162.1  FH1/FH2 domain-containing protein 3 isoform X24

    34. XM_054319190.1XP_054175165.1  FH1/FH2 domain-containing protein 3 isoform X27

    35. XM_054319192.1XP_054175167.1  FH1/FH2 domain-containing protein 3 isoform X29

    36. XM_054319166.1XP_054175141.1  FH1/FH2 domain-containing protein 3 isoform X4

    37. XM_054319174.1XP_054175149.1  FH1/FH2 domain-containing protein 3 isoform X12

    38. XM_054319193.1XP_054175168.1  FH1/FH2 domain-containing protein 3 isoform X30

    39. XM_054319183.1XP_054175158.1  FH1/FH2 domain-containing protein 3 isoform X21

    40. XM_054319203.1XP_054175178.1  FH1/FH2 domain-containing protein 3 isoform X40

    41. XM_054319176.1XP_054175151.1  FH1/FH2 domain-containing protein 3 isoform X14

    42. XM_054319184.1XP_054175159.1  FH1/FH2 domain-containing protein 3 isoform X21