This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle for... See more...

Aliases for FNBP4 Gene

Aliases for FNBP4 Gene

  • Formin Binding Protein 4 2 3 5
  • Formin-Binding Protein 30 3 4
  • Formin-Binding Protein 4 3 4
  • KIAA1014 2 4
  • FBP30 3 4
  • FNBP4 5

External Ids for FNBP4 Gene

Previous GeneCards Identifiers for FNBP4 Gene

  • GC11M048615
  • GC11M047769
  • GC11M047702
  • GC11M047694
  • GC11M047443
  • GC11M047805
  • GC11M048082
  • GC11M048805
  • GC11M049910
  • GC11M047913
  • GC11M047961
  • GC11M055824
  • GC11M056049
  • GC11M056195
  • GC11M059716
  • GC11M050808
  • GC11M051603
  • GC11M052265
  • GC11M052925
  • GC11M053593
  • GC11M054259
  • GC11M054925
  • GC11M055627
  • GC11M061135

Summaries for FNBP4 Gene

Entrez Gene Summary for FNBP4 Gene

  • This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]

GeneCards Summary for FNBP4 Gene

FNBP4 (Formin Binding Protein 4) is a Protein Coding gene. Diseases associated with FNBP4 include Microphthalmia With Limb Anomalies and Cerebral Amyloid Angiopathy, Itm2b-Related, 2. An important paralog of this gene is DIAPH3.

Gene Wiki entry for FNBP4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FNBP4 Gene

Genomics for FNBP4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FNBP4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FNBP4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FNBP4

Top Transcription factor binding sites by QIAGEN in the FNBP4 gene promoter:
  • CUTL1
  • Evi-1
  • FOXF2
  • HNF-1
  • HNF-1A
  • HNF-4alpha1
  • HNF-4alpha2
  • MZF-1
  • POU2F1
  • POU2F1a

Genomic Locations for FNBP4 Gene

Latest Assembly
chr11:47,716,494-47,767,460
(GRCh38/hg38)
Size:
50,967 bases
Orientation:
Minus strand

Previous Assembly
chr11:47,738,046-47,788,893
(GRCh37/hg19 by Entrez Gene)
Size:
50,848 bases
Orientation:
Minus strand

chr11:47,738,072-47,788,995
(GRCh37/hg19 by Ensembl)
Size:
50,924 bases
Orientation:
Minus strand

Genomic View for FNBP4 Gene

Genes around FNBP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FNBP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FNBP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FNBP4 Gene

Proteins for FNBP4 Gene

  • Protein details for FNBP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3X1-FNBP4_HUMAN
    Recommended name:
    Formin-binding protein 4
    Protein Accession:
    Q8N3X1
    Secondary Accessions:
    • Q9H985
    • Q9NT81
    • Q9Y2L7

    Protein attributes for FNBP4 Gene

    Size:
    1017 amino acids
    Molecular mass:
    110266 Da
    Quaternary structure:
    • Binds FMN1. Interacts with the Arg/Gly-rich-flanked Pro-rich of KHDRBS1/SAM68. Arginine methylation in these regions has no effect on this binding.
    SequenceCaution:
    • Sequence=BAA76858.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for FNBP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FNBP4 Gene

Post-translational modifications for FNBP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FNBP4 Gene

No data available for DME Specific Peptides for FNBP4 Gene

Domains & Families for FNBP4 Gene

Gene Families for FNBP4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FNBP4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FNBP4 Gene

GenScript: Design optimal peptide antigens:
  • Formin binding protein 4, isoform CRA_d (D3DQS4_HUMAN)
  • Formin-binding protein 30 (FNBP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N3X1

UniProtKB/Swiss-Prot:

FNBP4_HUMAN :
  • These WW domains interact with Arg/Gly-rich-flanked Pro-rich domains found in several WW domain-binding proteins (WBPs). The N-terminal WW domain has the greater ligand-binding ability (By similarity).
Domain:
  • These WW domains interact with Arg/Gly-rich-flanked Pro-rich domains found in several WW domain-binding proteins (WBPs). The N-terminal WW domain has the greater ligand-binding ability (By similarity).
genes like me logo Genes that share domains with FNBP4: view

Function for FNBP4 Gene

Phenotypes From GWAS Catalog for FNBP4 Gene

Gene Ontology (GO) - Molecular Function for FNBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17500595
genes like me logo Genes that share ontologies with FNBP4: view
genes like me logo Genes that share phenotypes with FNBP4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FNBP4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FNBP4 Gene

Localization for FNBP4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FNBP4 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FNBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with FNBP4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FNBP4 Gene

Pathways & Interactions for FNBP4 Gene

PathCards logo

SuperPathways for FNBP4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FNBP4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FNBP4 Gene

Drugs & Compounds for FNBP4 Gene

No Compound Related Data Available

Transcripts for FNBP4 Gene

mRNA/cDNA for FNBP4 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FNBP4

Alternative Splicing Database (ASD) splice patterns (SP) for FNBP4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
SP1: - -
SP2:
SP3:
SP4: - - -
SP5: - -
SP6:
SP7:
SP8: - -
SP9:
SP10: - - -
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:

ExUns: 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23
SP1: - - - - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7: - - - -
SP8:
SP9: - - - -
SP10:
SP11:
SP12:
SP13: - - -
SP14:
SP15: - -
SP16:
SP17:
SP18: -

Relevant External Links for FNBP4 Gene

GeneLoc Exon Structure for
FNBP4

Expression for FNBP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FNBP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FNBP4 Gene

This gene is overexpressed in CD8 Tcells (12.9), Monocytes (11.9), and Testis (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FNBP4 Gene



Protein tissue co-expression partners for FNBP4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FNBP4

SOURCE GeneReport for Unigene cluster for FNBP4 Gene:

Hs.6834

mRNA Expression by UniProt/SwissProt for FNBP4 Gene:

Q8N3X1-FNBP4_HUMAN
Tissue specificity: Highly expressed in the eye.

Evidence on tissue expression from TISSUES for FNBP4 Gene

  • Nervous system(4.8)
  • Skin(2.2)
  • Heart(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with FNBP4: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FNBP4 Gene

Orthologs for FNBP4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FNBP4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FNBP4 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FNBP4 30 31
  • 91.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FNBP4 30 31
  • 88.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fnbp4 30
  • 85.05 (n)
Mouse
(Mus musculus)
Mammalia Fnbp4 30 17 31
  • 83.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FNBP4 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FNBP4 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FNBP4 30 31
  • 65.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FNBP4 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC734003 30
  • 63.53 (n)
Str.10228 30
African clawed frog
(Xenopus laevis)
Amphibia fnbp4-prov 30
Zebrafish
(Danio rerio)
Actinopterygii fnbp4 30 31
  • 59.03 (n)
OneToOne
Dr.15154 30
Species where no ortholog for FNBP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FNBP4 Gene

ENSEMBL:
Gene Tree for FNBP4 (if available)
TreeFam:
Gene Tree for FNBP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FNBP4: view image

Paralogs for FNBP4 Gene

(1) SIMAP similar genes for FNBP4 Gene using alignment to 3 proteins:

  • FNBP4_HUMAN
  • D3DQS4_HUMAN
  • F5GXL1_HUMAN
genes like me logo Genes that share paralogs with FNBP4: view

Variants for FNBP4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FNBP4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs138653244 Benign: not provided 47,724,144(-) G/C
NM_015308.5(FNBP4):c.2348C>G (p.Ser783Cys)
MISSENSE
rs146921625 Benign: not provided 47,767,256(-) A/G
NM_015308.5(FNBP4):c.33T>C (p.Arg11=)
SYNONYMOUS
rs148898872 Benign: not provided 47,724,472(-) C/A
NM_015308.5(FNBP4):c.2315G>T (p.Ser772Ile)
MISSENSE
rs148965139 Benign: not provided 47,751,159(-) G/C
NM_015308.5(FNBP4):c.769C>G (p.Gln257Glu)
MISSENSE
rs184083336 Benign: not provided 47,746,221(-) T/C
NM_015308.5(FNBP4):c.1080A>G (p.Thr360=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FNBP4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FNBP4 Gene

Variant ID Type Subtype PubMed ID
dgv1111n100 CNV gain 25217958
esv2676370 CNV deletion 23128226
esv3547713 CNV deletion 23714750
esv3626207 CNV loss 21293372
nsv1110683 CNV insertion 24896259
nsv469858 CNV gain 16826518
nsv832143 CNV loss 17160897

Variation tolerance for FNBP4 Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.59; 91.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FNBP4 Gene

Human Gene Mutation Database (HGMD)
FNBP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FNBP4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FNBP4 Gene

Disorders for FNBP4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FNBP4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
microphthalmia with limb anomalies
  • mla
cerebral amyloid angiopathy, itm2b-related, 2
  • dementia, familial danish; fdd
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search FNBP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FNBP4

genes like me logo Genes that share disorders with FNBP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FNBP4 Gene

Publications for FNBP4 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. (PMID: 23703728) Kondo Y … Matsumoto N (American journal of medical genetics. Part A 2013) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Arginine methylation inhibits the binding of proline-rich ligands to Src homology 3, but not WW, domains. (PMID: 10748127) Bedford MT … Richard S (The Journal of biological chemistry 2000) 3 4
  5. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3

Products for FNBP4 Gene

Sources for FNBP4 Gene