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Aliases for FNBP4 Gene

Aliases for FNBP4 Gene

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

External Ids for FNBP4 Gene

Previous GeneCards Identifiers for FNBP4 Gene

  • GC11M048615
  • GC11M047769
  • GC11M047702
  • GC11M047694
  • GC11M047443
  • GC11M047805
  • GC11M048082
  • GC11M048805
  • GC11M049910
  • GC11M047913
  • GC11M047961
  • GC11M050808
  • GC11M051603
  • GC11M052265

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.

Gene Wiki entry for FNBP4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FNBP4 Gene

Genomics for FNBP4 Gene

Regulatory Elements for FNBP4 Gene

Enhancers for FNBP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G047506 1.9 FANTOM5 Ensembl ENCODE dbSUPER 74.7 +253.9 253879 14.4 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A FEZF1 ZNF2 FOS JUNB REST FNBP4 NUP160 ENSG00000200090 C1QTNF4 SLC39A13 CELF1 ENSG00000270060 DDB2 PTPMT1 NDUFS3
GH11G047996 2 FANTOM5 Ensembl ENCODE dbSUPER 52.7 -241.4 -241434 24.6 HNRNPUL1 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 FOS JUNB REST NUP160 ENSG00000200090 FNBP4 PTPRJ SLC39A13 MADD ENSG00000270060 DDB2 MYBPC3 CELF1
GH11G047373 1.8 FANTOM5 ENCODE dbSUPER 46.8 +390.8 390818 6.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YBX1 ZNF2 ZNF766 CBX5 FNBP4 NUP160 ENSG00000200090 C1QTNF4 SLC39A13 ENSG00000270060 PSMC3 ZNF408 SPI1 ENSG00000255197
GH11G047764 1.8 FANTOM5 ENCODE dbSUPER 38.6 +0.3 323 4.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A DMAP1 ZNF2 YY1 ZNF766 NUP160 FNBP4 ENSG00000270060 ENSG00000200090 DDB2 C1QTNF4 PSMC3 PTPRJ ACP2 CELF1
GH11G047354 1.6 Ensembl ENCODE dbSUPER 34.1 +412.0 412028 1.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B CBX5 ZNF143 FNBP4 NUP160 C1QTNF4 ENSG00000200090 SLC39A13 ENSG00000270060 C11orf49 MADD MYBPC3 GC11P047369
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FNBP4 on UCSC Golden Path with GeneCards custom track

Promoters for FNBP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039722 560 3001 HDGF PKNOX1 ARNT AGO1 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766

Genomic Location for FNBP4 Gene

Chromosome:
11
Start:
47,716,517 bp from pter
End:
47,767,460 bp from pter
Size:
50,944 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=Translation N-terminally shortened.; 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FNBP4 Gene

Domains & Families for FNBP4 Gene

Protein Domains for FNBP4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FNBP4 Gene

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

No data available for Gene Families for FNBP4 Gene

Function 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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
mitochondrion 1
cytosol 1

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

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

Unigene Clusters for FNBP4 Gene

Formin binding protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
FNBP4

Expression for FNBP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for FNBP4 Gene



Protein tissue co-expression partners for FNBP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FNBP4 Gene:

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(4.7)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with FNBP4: view

Primer Products

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 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia FNBP4 34 35
  • 91.2 (n)
cow
(Bos Taurus)
Mammalia FNBP4 34 35
  • 88.16 (n)
rat
(Rattus norvegicus)
Mammalia Fnbp4 34
  • 85.05 (n)
mouse
(Mus musculus)
Mammalia Fnbp4 34 16 35
  • 83.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FNBP4 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FNBP4 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves FNBP4 34 35
  • 65.12 (n)
lizard
(Anolis carolinensis)
Reptilia FNBP4 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC734003 34
  • 63.53 (n)
Str.10228 34
African clawed frog
(Xenopus laevis)
Amphibia fnbp4-prov 34
zebrafish
(Danio rerio)
Actinopterygii fnbp4 34 35
  • 59.03 (n)
Dr.15154 34
Species where no ortholog for FNBP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for FNBP4 Gene

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

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

No data available for Paralogs for FNBP4 Gene

Variants for FNBP4 Gene

Sequence variations from dbSNP and Humsavar for FNBP4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs780064080 Uncertain significance 47,751,245(+) ATCCC(A/G)TGTTC nc-transcript-variant, reference, missense
rs1000167069 -- 47,751,287(+) CAATT(A/C)CGACT nc-transcript-variant, reference, missense
rs1000200109 -- 47,751,023(+) TTCAG(C/G)ACCTG nc-transcript-variant, reference, missense
rs1000295641 -- 47,721,483(+) CTGTC(A/G)CCCCA intron-variant
rs1000304289 -- 47,721,463(+) TGGCA(C/T)GGTGG intron-variant

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)

Relevant External Links for FNBP4 Gene

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

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

Disorders for FNBP4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FNBP4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
microphthalmia with limb anomalies
  • anophthalmia-syndactyly syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FNBP4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FNBP4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Res. 1999) 2 3 4 64
  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. (Am. J. Med. Genet. A 2013) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Arginine methylation inhibits the binding of proline-rich ligands to Src homology 3, but not WW, domains. (PMID: 10748127) Bedford M.T. … Richard S. (J. Biol. Chem. 2000) 3 4 64
  5. Computational analyses of the length and compositional variations of the FNBP4 gene across 10 different species. (PMID: 26456197) Das A. … Dasgupta R. (Gene 2016) 3 64

Products for FNBP4 Gene

Sources for FNBP4 Gene

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