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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
  • KIAA1014 4

External Ids for FNBP4 Gene

Previous GeneCards Identifiers for FNBP4 Gene

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

Summaries for FNBP4 Gene

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 Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around FNBP4 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for FNBP4 Gene at MOPED

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).
  • Contains 2 WW domains.
genes like me logo Genes that share domains with FNBP4: view

No data available for Gene Families for FNBP4 Gene

Function for FNBP4 Gene

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

Animal Model Products

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

Localization for FNBP4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FNBP4 Gene COMPARTMENTS Subcellular localization image for FNBP4 gene
Compartment Confidence
nucleus 5
cytosol 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:

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 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, MOPED, and MaxQB for FNBP4 Gene



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.
genes like me logo Genes that share expression patterns with FNBP4: view

Protein tissue co-expression partners for FNBP4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia FNBP4 35
  • 88.16 (n)
  • 89.74 (a)
FNBP4 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FNBP4 35
  • 91.2 (n)
  • 92.41 (a)
FNBP4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fnbp4 35
  • 83.81 (n)
  • 83.84 (a)
Fnbp4 16
Fnbp4 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FNBP4 35
  • 99.71 (n)
  • 99.71 (a)
FNBP4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fnbp4 35
  • 85.05 (n)
  • 85.91 (a)
oppossum
(Monodelphis domestica)
Mammalia FNBP4 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FNBP4 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves FNBP4 35
  • 65.12 (n)
  • 66.74 (a)
FNBP4 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FNBP4 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC734003 35
  • 63.53 (n)
  • 63.28 (a)
Str.10228 35
African clawed frog
(Xenopus laevis)
Amphibia fnbp4-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15154 35
fnbp4 35
  • 59.03 (n)
  • 56.82 (a)
fnbp4 36
  • 55 (a)
OneToOne
Species with no ortholog for FNBP4:
  • 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
rs34962598 - 47,754,604(-) TTCCG(A/G)AAAAC nc-transcript-variant, reference, missense
rs35040940 - 47,724,112(-) AAGCT(A/G)CAGAA nc-transcript-variant, reference, missense
VAR_075345 -
rs1123210 -- 47,743,122(+) ATCCA(C/T)AAAAG intron-variant
rs1563821 -- 47,735,016(+) CACAG(C/T)ATGGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv469858 CNV Gain 16826518
nsv832143 CNV Loss 17160897
esv2676370 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
FNBP4
Human Gene Mutation Database (HGMD)
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: GeneCards

Disorder Aliases PubMed IDs
microphthalmia with limb anomalies
  • ophthalmoacromelic 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 67
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  3. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon K.S. … Liu Q. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. (PMID: 24999758) Elzi D.J. … Shiio Y. (J. Proteome Res. 2014) 3
  5. 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

Products for FNBP4 Gene

Sources for FNBP4 Gene

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