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FTCDNL1 Gene

protein-coding   GIFtS: 20
GCID: GC02M200628

Formiminotransferase Cyclodeaminase N-Terminal Like

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Formiminotransferase Cyclodeaminase N-Terminal Like1 2
FONG2 3 5
Formiminotransferase N-Terminal Sub-Domain Containing Gene1
Formiminotransferase-Cyclodeaminase N-Terminal-Like Protein3

External Ids:    HGNC: 486611   Entrez Gene: 3487512   Ensembl: ENSG000002261247   OMIM: 6143085   UniProtKB: E5RQL43   

Export aliases for FTCDNL1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FTCDNL1 Gene:
FTCDNL1 (formiminotransferase cyclodeaminase N-terminal like) is a protein-coding gene. Diseases associated with FTCDNL1 include osteoporosis. GO annotations related to this gene include folic acid binding and transferase activity. An important paralog of this gene is FTCD.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for FTCDNL1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FTCDNL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.1

FTCDNL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FTCDNL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M200628:  view genomic region     (about GC identifiers)

Start:
200,625,259 bp from pter      End:
200,715,896 bp from pter
Size:
90,638 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for FTCDNL1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FONG_HUMAN, E5RQL4 (See protein sequence)
Recommended Name: Formiminotransferase N-terminal subdomain-containing protein precursor  
Size: 147 amino acids; 16268 Da

Explore the universe of human proteins at neXtProt for FTCDNL1: NX_E5RQL4


ENSEMBL proteins: 
 ENSP00000454447   ENSP00000456442   ENSP00000457780  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR012886 Formiminotransferase_N
 IPR022384 FormiminoTrfase_N/C_subdom

Graphical View of Domain Structure for InterPro Entry E5RQL4

ProtoNet protein and cluster: E5RQL4

UniProtKB/Swiss-Prot: FONG_HUMAN, E5RQL4
Similarity: Belongs to the formiminotransferase family


FTCDNL1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005542folic acid binding IEA--
GO:0016740transferase activity IEA--
     
FTCDNL1 for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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  --

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FTCDNL1
Interactions:

    Search GeneGlobe Interaction Network for FTCDNL1

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008152metabolic process ----

FTCDNL1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000416668(uc002uvg.3) ENST00000420922 ENST00000420128(uc021vup.1)

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GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FTCDNL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
FTCDNL1 Expression
About this image

FTCDNL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

UniProtKB/Swiss-Prot: FONG_HUMAN, E5RQL4
Tissue specificity: Widely expressed with highest levels in liver and skeletal muscle, and moderate levels in
kidney, bone and pancreas

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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for FTCDNL1 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
oppossum
(Monodelphis domestica)
Mammalia --
--
Uncharacterized protein
33(a)
23(a)
many → 1
many → 1
4(221364945-221416074)
2(202055957-202057613)
chicken
(Gallus gallus)
Aves FTCD6
Gallus gallus formiminotransferase cyclodeaminase ...
6(a)
1 → many
7(6812146-6818978)
lizard
(Anolis carolinensis)
Reptilia FTCDNL16
formiminotransferase cyclodeaminase N-terminal lik...
23(a)
1 ↔ 1
GL343343.1(431476-457956)
zebrafish
(Danio rerio)
Actinopterygii FTCDNL16
formiminotransferase cyclodeaminase N-terminal lik...
21(a)
1 ↔ 1
9(25241878-25246229) ENSDARG00000062423


ENSEMBL Gene Tree for FTCDNL1 (if available)
TreeFam Gene Tree for FTCDNL1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FTCDNL1 gene
FTCD2  

FTCDNL1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for FTCDNL1 (see all 1506)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1914036761,2
--200624834(+) CTGGAA/TTTGTT 1 -- int10--------
rs1474796321,2
C--200624886(+) GGGGTA/GGAGCG 1 -- int10--------
rs118941291,2
C,F,H--200624900(+) GAGTCG/ATAAGG 1 -- int111Minor allele frequency- A:0.06NS EA NA WA 1482
rs1996111801,2
C--200624943(-) TTTTTG/TTTTTT 1 -- int10--------
rs58377061,2
C--200624970(+) ACAGTA/-AAGGC 1 -- int11Minor allele frequency- -:0.00NA 2
rs1153596341,2
C,F--200625045(+) GATCAT/CATGCA 1 -- int11Minor allele frequency- C:0.04WA 118
rs23465851,2
C,F,O,A,H--200625156(+) TTCCTC/GTCCCT 1 -- int118Minor allele frequency- N:0.00NS EA NA CSA WA 1886
rs1400107061,2
--200625406(+) AATTTA/TCCATC 1 -- nc-transcript-variant0--------
rs1427950461,2
--200625430(+) TTAAAC/TGGTAC 1 -- nc-transcript-variant0--------
rs23465861,2
C,F,A,H--200625581(+) AGAGAT/CTAGTA 1 -- int116Minor allele frequency- C:0.45NS EA NA WA 932

HapMap Linkage Disequilibrium report for FTCDNL1 (200625259 - 200715896 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for FTCDNL1: --
Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614308    OMIM disorders: --

1 disease for FTCDNL1:    
About MalaCards
osteoporosis


FTCDNL1 for disorders           About GeneDecksing


Export disorders for FTCDNL1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for FTCDNL1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with FTCDNL1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese. (PubMed id 21573128)1, 2, 3 Kou I.... Ikegawa S. (PLoS ONE 2011)
  2. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
  3. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. (PubMed id 23648065)1 Low S.K....Nakamura Y. (Cancer Sci. 2013)
  4. Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases. (PubMed id 23303384)1 Zhou H....Ito H. (J. Hum. Genet. 2013)
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 348751 HGNC: 48661 Ensembl:ENSG00000226124 euGenes: HUgn348751 ECgene: FTCDNL1
H-InvDB: FTCDNL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FTCDNL1 gene:
Search GeneIP for patents involving FTCDNL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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