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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FER1L4 Gene

pseudogene   GIFtS: 35
GCID: GC20M034146

fer-1-like 4 (C. elegans) pseudogene

(Previous name: fer-1-like 4 (C. elegans) )
(Previous symbol: C20orf124)
 Explore 1 disease affiliated with
FER1L4 via our new
 Human Malady Compendium 
Biological research products
for FER1L4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Fer-1-Like 4 (C. Elegans) Pseudogene1 2
C20orf1241 2 3
BA563A22B.11
DJ309K20.11
Fer-1-Like 4 (C. Elegans)1

External Ids:    HGNC: 158011   Entrez Gene: 803072   Ensembl: ENSG000000883407   UniProtKB: A9Z1Z33   
ORGUL members:         
NONCODE:n387194 n339660 n346155 n406891    

Export aliases for FER1L4 gene to outside databases

Previous GC identifers: GC20M033904 GC20M034814 GC20M034861 GC20M034862 GC20M033609 GC20M030924


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FER1L4 gene promoter:
         Pax-5   MEF-2   Brachyury   ATF-2   YY1   HNF-4alpha1   CRE-BP1   HEN1   MEF-2A   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FER1L4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FER1L4


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

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.23

FER1L4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FER1L4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M034146:  view genomic region     (about GC identifiers)

Start:
34,146,507 bp from pter      End:
34,195,484 bp from pter
Size:
48,978 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

  • n406891
  • n346155
  • n387194
  • n339660
34146506 34170995 34195484 chr20

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FR1L4_HUMAN, A9Z1Z3 (See protein sequence)
Recommended Name: Fer-1-like protein 4  
Size: 1794 amino acids; 200980 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=BAB14597.1; Type=Erroneous initiation;
Secondary accessions: Q9GZQ9 Q9H646 Q9H8L7
Alternative splicing: 4 isoforms:  A9Z1Z3-1   A9Z1Z3-2   A9Z1Z3-3   A9Z1Z3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FER1L4: NX_A9Z1Z3

FER1L4 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).


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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--


FER1L4 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FER1L4 for domains           About GeneDecksing

5 InterPro domains/families:
 IPR012561 Ferlin_B-domain
 IPR012968 FerIin-domain
 IPR018029 C2_membr_targeting
 IPR008973 C2_Ca/lipid-bd_dom_CaLB
 IPR000008 C2_Ca-dep

Graphical View of Domain Structure for InterPro Entry A9Z1Z3

ProtoNet protein and cluster: A9Z1Z3

UniProtKB/Swiss-Prot: FR1L4_HUMAN, A9Z1Z3
Similarity: Belongs to the ferlin family
Similarity: Contains 5 C2 domains


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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Inhib. RNA
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1 GenomeRNAi human phenotype for FER1L4:
 Increased G2M DNA content 


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FER1L4

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FER1L4
Search CenterWatch for drugs/clinical trials and news about FER1L4 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

Unigene Cluster for FER1L4:

Fer-1-like 4 (C. elegans) pseudogene
Hs.72222  [show with all ESTs]
Unigene Representative Sequence: NR_024377
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000434828 ENST00000262870 ENST00000400461(uc002xcx.3) ENST00000411519(uc010gfg.1)
ENST00000400465 ENST00000431615(uc002xcy.4) ENST00000440443 ENST00000452272
ENST00000430275 ENST00000412452 ENST00000325076(uc010zvh.1) ENST00000434843
ENST00000426117

miRNA
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Inhib. RNA
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Additional cDNA sequence: 

AF218012.1 AF218030.1 AL833764.1 AY461812.1 BC029951.1 BX648024.1 NR_024377.1 

14 DOTS entries:

DT.105430  DT.99965692  DT.101978898  DT.97779387  DT.95336958  DT.95265673  DT.70101289  DT.100717011 
DT.120818642  DT.91668661  DT.91679080  DT.99933710  DT.120818635  DT.65284360 

23 AceView cDNA sequences:

AA600159 AL929481 BC029951 R74490 AK026266 AW135429 AI741534 BX366900 
AI189057 BX379397 BI827331 AW451439 BF732507 AI206080 AW205318 BX339596 
BX390528 BQ109511 AL548157 BG010720 R74601 AW298094 BG506859 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FER1L4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAGCTACCC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image

FER1L4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
Stem Cell Differentiation: 2 LifeMap Cells 
NameCategory
PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
PureStem™ progenitor W10 (Embryonic Progenitor Cell)
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See FER1L4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FER1L4

SOURCE GeneReport for Unigene cluster: Hs.72222
    SABiosciences Custom PCR Arrays for FER1L4
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FER1L4

(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)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for FER1L4 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fer1l45 fer-1-like 4 (C. elegans)   --   2 (77.32 cM) 156019139 


ENSEMBL Gene Tree for FER1L4 (if available)
TreeFam Gene Tree for FER1L4 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/966 NCBI SNPs in FER1L4 are shown (see all 966    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1904763751,2
--34146051(+) CCAGTC/GCACAG 1 -- int10--------
rs1808816381,2
--34146072(+) CAGGGA/GTACCT 1 -- int10--------
rs751297471,2
C,--34146080(+) CCTAAA/CCAGCC 1 -- int10--------
rs1860847321,2
--34146160(+) GAAAGA/GAAGCG 1 -- int10--------
rs1399295181,2
C,--34146310(+) GACCT-/GGCCAC 1 -- int10--------
rs766659701,2
C,F,--34146400(+) GGGCAG/TCCTTC 1 -- int11Minor allele frequency- T:0.09WA 118
rs799181851,2
C,F,--34146477(+) CCTGGT/AGCCGG 1 -- int11Minor allele frequency- A:0.09WA 118
rs1904149431,2
--34146496(+) AGCACA/GTGATC 1 -- int10--------
rs782236951,2
C,--34146519(+) CTGTGA/GTAGGT 1 -- nc-transcript-variant0--------
rs1393159901,2
C,--34146726(+) CCAGT-/AGCAGCAG 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for FER1L4 (34146507 - 34195484 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for FER1L4
     2 CNVs: 6096 50650

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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.)
About This Section

FER1L4 for disorders           About GeneDecksing

1 disease for FER1L4:    About MalaCards
muscular dystrophy


Export disorders for FER1L4 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)
About This Section

PubMed articles for FER1L4 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with FER1L4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  2. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
  3. In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains. (PubMed id 17512949)1 Jimenez J.L. and Bashir R. (2007)
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  6. Dysferlin and the plasma membrane repair in muscular dystrophy. (PubMed id 15066638)1 Bansal D. and Campbell K.P. (2004)
  7. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
  8. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (2004)
  9. 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. (2002)
  10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 80307 HGNC: 15801 AceView: FER1L4.1 Ensembl:ENSG00000088340 euGenes: HUgn80307
ECgene: FER1L4 H-InvDB: FER1L4

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for FER1L4 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for FER1L4 gene:
Search GeneIP for patents involving FER1L4

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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VWF
(GIFTS: 73)
von Willebrand factor
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