Aliases for FNBP4 Gene
Aliases for FNBP4 Gene
External Ids for FNBP4 Gene
- HGNC: 19752
- Entrez Gene: 23360
- Ensembl: ENSG00000109920
- OMIM: 615265
- UniProtKB: Q8N3X1
Previous GeneCards Identifiers for FNBP4 Gene
- GC11M048615
- GC11M047769
- GC11M047702
- GC11M047694
- GC11M047443
- GC11M047805
- GC11M048082
- GC11M048805
- GC11M049910
- GC11M047913
- GC11M047961
- GC11M050808
- GC11M051603
- GC11M052265
- GC11M052925
- GC11M053593
Summaries 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.
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
GeneHancer (GH) Regulatory Elements for FNBP4 Gene
Promoters and enhancers for FNBP4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around FNBP4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FNBP4 gene promoter:
Regulatory Element Products
Genomic Locations for FNBP4 Gene
Genomic Locations for FNBP4 Gene
- chr11:47,716,517-47,767,460
- (GRCh38/hg38)
- Size:
- 50,944 bases
- Orientation:
- Minus strand
- chr11:47,738,069-47,788,995
- (GRCh37/hg19)
Genomic View for FNBP4 Gene
Genes around FNBP4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by Ensembl
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
FNBP4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for FNBP4 Gene
Post-translational modifications for FNBP4 Gene
Other Protein References for FNBP4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FNBP4
-
Abcam antibodies for FNBP4
- Invitrogen Antibodies for FNBP4
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Protein Products
-
OriGene Purified Proteins for FNBP4
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Assay Products
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
Suggested Antigen Peptide Sequences for FNBP4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8N3X1UniProtKB/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).
Function for FNBP4 Gene
Phenotypes From GWAS Catalog for FNBP4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17500595 |
Phenotypes for FNBP4 Gene
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miRNA for FNBP4 Gene
- miRTarBase miRNAs that target FNBP4
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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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
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 1 |
| cytosol | 1 |
- Nuclear speckles (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016607 | nuclear speck | IDA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for FNBP4 Gene
Pathways & Interactions for FNBP4 Gene
No Data Available
Interacting Proteins for FNBP4 Gene
Selected Interacting proteins:
Q8N3X1-FNBP4_HUMAN
ENSP00000263773
for FNBP4 Gene via
IID
MINT
STRING
UniProtKB
No data available for Pathways by source and SIGNOR curated interactions for FNBP4 Gene
Transcripts for FNBP4 Gene
mRNA/cDNA for FNBP4 Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (314) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FNBP4 Gene
CRISPR Products
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FNBP4
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Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for FNBP4
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for FNBP4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: | - |
Expression for FNBP4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FNBP4 Gene:
FNBP4SOURCE GeneReport for Unigene cluster for FNBP4 Gene:
Hs.6834mRNA 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)
Primer Products
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OriGene qPCR primer pairs for FNBP4
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Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FNBP4 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FNBP4 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FNBP4 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fnbp4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Fnbp4 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FNBP4 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FNBP4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FNBP4 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FNBP4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC734003 33 |
|
||
| Str.10228 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | fnbp4-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fnbp4 33 34 |
|
||
| Dr.15154 33 |
|
- 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)
Paralogs for FNBP4 Gene
(1) SIMAP similar genes for FNBP4 Gene using alignment to 3 proteins:
No data available for Paralogs for FNBP4 Gene
Variants for FNBP4 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs780064080 | uncertain-significance, not provided | 47,751,245(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000167069 | -- | 47,751,287(-) | C/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000200109 | -- | 47,751,023(-) | C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000295641 | -- | 47,721,483(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000304289 | -- | 47,721,463(-) | T/C | genic_downstream_transcript_variant, intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FNBP4 Gene
Disorders for FNBP4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microphthalmia with limb anomalies |
|
|
Search FNBP4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FNBP4
No data available for UniProtKB/Swiss-Prot and Genatlas for FNBP4 Gene
Publications for FNBP4 Gene
- 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 58
- 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 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for FNBP4 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available FNBP4 related products ranked by validation data
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Sources for FNBP4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
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