Human Gene FMNL2 (uc002tye.3) Description and Page Index
  Description: Homo sapiens formin-like 2 (FMNL2), mRNA.
RefSeq Summary (NM_052905): This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC167159.1, AB067489.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000288670.14/ ENSP00000288670.9 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr2:153,191,751-153,506,348 Size: 314,598 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chr2:153,192,118-153,504,419 Size: 312,302 Coding Exon Count: 26 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:153,191,751-153,506,348)mRNA (may differ from genome)Protein (1092 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FMNL2
CDC HuGE Published Literature: FMNL2
Positive Disease Associations: Bilirubin , Blood Pressure , Creatinine , Glomerular Filtration Rate
Related Studies:
  1. Bilirubin
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
  2. Blood Pressure
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  3. Creatinine
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
           more ... click here to view the complete list

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 91.80 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 916.60 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -212.02367-0.578 Picture PostScript Text
3' UTR -474.121929-0.246 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
  Pfam Domains:
PF02181 - Formin Homology 2 Domain
PF06367 - Diaphanous FH3 Domain
PF06371 - Diaphanous GTPase-binding Domain

SCOP Domains:
48452 - TPR-like
101447 - Formin homology 2 domain (FH2 domain)

ModBase Predicted Comparative 3D Structure on Q96PY5-3
FrontTopSide
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 orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  BC113878 - Homo sapiens formin-like 2, mRNA (cDNA clone IMAGE:40081737), complete cds.
BC114438 - Homo sapiens formin-like 2, mRNA (cDNA clone IMAGE:40081739), complete cds.
AB067489 - Homo sapiens mRNA for KIAA1902 protein.
BC167159 - Homo sapiens formin-like 2, mRNA (cDNA clone MGC:176702 IMAGE:8862581), complete cds.
AB385514 - Synthetic construct DNA, clone: pF1KA1902, Homo sapiens FMNL2 gene for formin-like protein 2, complete cds, without stop codon, in Flexi system.
BC167804 - Synthetic construct Homo sapiens clone IMAGE:100068194, MGC:195811 formin-like 2 (FMNL2) mRNA, encodes complete protein.
AL834396 - Homo sapiens mRNA; cDNA DKFZp761P0824 (from clone DKFZp761P0824).
AK131316 - Homo sapiens cDNA FLJ16308 fis, clone PUAEN2006335.
AK094865 - Homo sapiens cDNA FLJ37546 fis, clone BRCAN2027364, highly similar to Homo sapiens formin-like 2 (FMNL2), transcript variant 2, mRNA.
JD134997 - Sequence 116021 from Patent EP1572962.
JD178243 - Sequence 159267 from Patent EP1572962.
JD205151 - Sequence 186175 from Patent EP1572962.
JD427507 - Sequence 408531 from Patent EP1572962.
JD282982 - Sequence 264006 from Patent EP1572962.
JD490967 - Sequence 471991 from Patent EP1572962.
JD494189 - Sequence 475213 from Patent EP1572962.
JD525824 - Sequence 506848 from Patent EP1572962.
JD150322 - Sequence 131346 from Patent EP1572962.
BC036492 - Homo sapiens formin-like 2, mRNA (cDNA clone IMAGE:5262578), with apparent retained intron.
KJ903644 - Synthetic construct Homo sapiens clone ccsbBroadEn_13038 FMNL2 gene, encodes complete protein.
JD023588 - Sequence 4612 from Patent EP1572962.
JD028886 - Sequence 9910 from Patent EP1572962.
JD553338 - Sequence 534362 from Patent EP1572962.
JD562785 - Sequence 543809 from Patent EP1572962.
BC014343 - Homo sapiens formin-like 2, mRNA (cDNA clone IMAGE:3839284), partial cds.
JD157080 - Sequence 138104 from Patent EP1572962.
JD456330 - Sequence 437354 from Patent EP1572962.
JD272105 - Sequence 253129 from Patent EP1572962.
JD374845 - Sequence 355869 from Patent EP1572962.
JD510053 - Sequence 491077 from Patent EP1572962.
JD287018 - Sequence 268042 from Patent EP1572962.
JD170132 - Sequence 151156 from Patent EP1572962.
JD541735 - Sequence 522759 from Patent EP1572962.
JD410850 - Sequence 391874 from Patent EP1572962.
JD252276 - Sequence 233300 from Patent EP1572962.
JD381764 - Sequence 362788 from Patent EP1572962.
JD428022 - Sequence 409046 from Patent EP1572962.
JD174391 - Sequence 155415 from Patent EP1572962.
JD282435 - Sequence 263459 from Patent EP1572962.
JD501657 - Sequence 482681 from Patent EP1572962.
JD490731 - Sequence 471755 from Patent EP1572962.
JD037452 - Sequence 18476 from Patent EP1572962.
JD562496 - Sequence 543520 from Patent EP1572962.
JD548662 - Sequence 529686 from Patent EP1572962.
JD244394 - Sequence 225418 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96PY5 (Reactome details) participates in the following event(s):

R-HSA-5665727 FMNL2 binds CDC42:GTP
R-HSA-5665748 FMNL2 binds RHOC:GTP
R-HSA-5665751 CDC42:GTP:FMNL2 binds Profilin:G-actin
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-195258 RHO GTPase Effectors
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: FHOD2, KIAA1902, NM_052905, NP_443137, Q96PY5-3
UCSC ID: uc002tye.3
RefSeq Accession: NM_052905
Protein: Q96PY5-3, splice isoform of Q96PY5 CCDS: CCDS46429.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_052905.3
exon count: 26CDS single in 3' UTR: no RNA size: 5575
ORF size: 3279CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5052.00frame shift in genome: no % Coverage: 100.00
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.