Human Gene FNBP4 (uc009ylv.3) Description and Page Index
  Description: Homo sapiens formin binding protein 4 (FNBP4), mRNA.
RefSeq Summary (NM_015308): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:47,738,069-47,788,993 Size: 50,925 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr11:47,738,974-47,788,840 Size: 49,867 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:47,738,069-47,788,993)mRNA (may differ from genome)Protein (1017 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Formin-binding protein 4; AltName: Full=Formin-binding protein 30;
SUBUNIT: 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.
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).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 2 WW domains.
SEQUENCE CAUTION: Sequence=BAA76858.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  MalaCards Disease Associations
  MalaCards Gene Search: FNBP4
Diseases sorted by gene-association score: microphthalmia with limb anomalies (17)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.94 RPKM in Cervix - Endocervix
Total median expression: 1134.89 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.90153-0.437 Picture PostScript Text
3' UTR -215.02905-0.238 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00397 - WW domain

SCOP Domains:
51045 - WW domain

ModBase Predicted Comparative 3D Structure on Q8N3X1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Cellular Component:
GO:0016607 nuclear speck

-  Descriptions from all associated GenBank mRNAs
  BC037404 - Homo sapiens formin binding protein 4, mRNA (cDNA clone MGC:36749 IMAGE:5140963), complete cds.
BC006557 - Homo sapiens formin binding protein 4, mRNA (cDNA clone IMAGE:2823964), partial cds.
AB023231 - Homo sapiens KIAA1014 mRNA for KIAA1014 protein.
AK022987 - Homo sapiens cDNA FLJ12925 fis, clone NT2RP2004710, highly similar to Mus musculus formin binding protein 30 mRNA.
AL137480 - Homo sapiens mRNA; cDNA DKFZp434M2023 (from clone DKFZp434M2023).
JD026675 - Sequence 7699 from Patent EP1572962.
JD028608 - Sequence 9632 from Patent EP1572962.
JD393789 - Sequence 374813 from Patent EP1572962.
JD297938 - Sequence 278962 from Patent EP1572962.
JD315572 - Sequence 296596 from Patent EP1572962.
KJ902333 - Synthetic construct Homo sapiens clone ccsbBroadEn_11727 FNBP4 gene, encodes complete protein.
AB384081 - Synthetic construct DNA, clone: pF1KSDA1014, Homo sapiens FNBP4 gene for formin-binding protein 4, complete cds, without stop codon, in Flexi system.
EU832174 - Synthetic construct Homo sapiens clone HAIB:100067203; DKFZo008H0525 formin binding protein 4 protein (FNBP4) gene, encodes complete protein.
EU832267 - Synthetic construct Homo sapiens clone HAIB:100067296; DKFZo004H0526 formin binding protein 4 protein (FNBP4) gene, encodes complete protein.
JD450972 - Sequence 431996 from Patent EP1572962.
BX537864 - Homo sapiens mRNA; cDNA DKFZp779I1064 (from clone DKFZp779I1064).
AK095093 - Homo sapiens cDNA FLJ37774 fis, clone BRHIP2026021, highly similar to Mus musculus formin binding protein 30 mRNA.
AK054636 - Homo sapiens cDNA FLJ30074 fis, clone BGGI11000123, highly similar to Homo sapiens formin binding protein 4 (FNBP4), mRNA.
AK123898 - Homo sapiens cDNA FLJ41904 fis, clone PEBLM2005632, moderately similar to Mus musculus formin binding protein 4 (Fnbp4).
Z36787 - H.sapiens (xs132) mRNA, 260bp.
CU691490 - Synthetic construct Homo sapiens gateway clone IMAGE:100020530 5' read FNBP4 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: FBP30, FNBP4_HUMAN, KIAA1014, NM_015308, NP_056123, Q8N3X1, Q9H985, Q9NT81, Q9Y2L7
UCSC ID: uc009ylv.3
RefSeq Accession: NM_015308
Protein: Q8N3X1 (aka FNBP4_HUMAN)
CCDS: CCDS41644.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_015308.2
exon count: 17CDS single in 3' UTR: no RNA size: 4127
ORF size: 3054CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6063.50frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.