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FAM217A Gene

protein-coding   GIFtS: 31
GCID: GC06M004050

Family With Sequence Similarity 217, Member A

(Previous name: chromosome 6 open reading frame 146)
(Previous symbol: C6orf146)
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(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
Family With Sequence Similarity 217, Member A1 2
C6orf1461 2 3
Chromosome 6 Open Reading Frame 1461
Protein FAM217A2
Uncharacterized Protein C6orf1462

External Ids:    HGNC: 213621   Entrez Gene: 2228262   Ensembl: ENSG000001459757   UniProtKB: Q8IXS03   

Export aliases for FAM217A 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 FAM217A Gene:
FAM217A (family with sequence similarity 217, member A) is a protein-coding gene.


(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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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAM217A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM217A


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

Entrez Gene cytogenetic band: 6p25.2   Ensembl cytogenetic band:  6p25.2   HGNC cytogenetic band: 6p25.1

FAM217A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM217A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M004050:  view genomic region     (about GC identifiers)

Start:
4,049,668 bp from pter      End:
4,087,578 bp from pter
Size:
37,911 bases      Orientation:
minus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: F217A_HUMAN, Q8IXS0 (See protein sequence)
Recommended Name: Protein FAM217A  
Size: 508 amino acids; 57420 Da
Sequence caution: Sequence=CAI42122.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5JYK1

Explore the universe of human proteins at neXtProt for FAM217A: NX_Q8IXS0

Explore proteomics data for FAM217A at MOPED


See FAM217A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_775834.2  
ENSEMBL proteins: 
 ENSP00000274673   ENSP00000418500   ENSP00000418339  

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antibodies-online antibodies for FAM217A (15 products) 

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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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ProtoNet protein and cluster: Q8IXS0

UniProtKB/Swiss-Prot: F217A_HUMAN, Q8IXS0
Similarity: Belongs to the FAM217 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for FAM217A

miRNA
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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 FAM217A
Interactions:

    Search GeneGlobe Interaction Network for FAM217A

(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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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for FAM217A (F217A)



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for FAM217A gene: 
NM_173563.2  

Unigene Cluster for FAM217A:

Family with sequence similarity 217, member A
Hs.657342  [show with all ESTs]
Unigene Representative Sequence: NM_173563
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000463904 ENST00000469157(uc010jnq.1) ENST00000274673(uc003mvx.3)
ENST00000380188(uc003mvy.3) ENST00000498677 ENST00000492651 ENST00000478714

miRNA
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SwitchGear 3'UTR luciferase reporter plasmidFAM217A 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: 

AK097426.1 BC039349.1 

3 DOTS entries:

DT.452723  DT.100019820  DT.97803041 

18 AceView cDNA sequences:

BC040899 AA928518 BC039349 Z21377 AI206750 AA770470 AK097426 BM553243 
NM_173563 AA934994 BM559565 AA609005 AA723684 BX090628 AI206756 BI462239 
BI462483 AW510632 

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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FAM217A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTGTGTTTCA
FAM217A Expression
About this image

FAM217A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM217A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.657342
    Custom PCR Arrays for FAM217A
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In Situ
Assay Products:
 

 
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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 FAM217A gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fam217a1 , 5 RIKEN cDNA 1700026J04 gene5
family with sequence similarity 217, member A1
75.23(n)1
63.05(a)1
  13 (14.22 cM)5
718641  NM_027967.11  NP_082243.11 
 349099645 
lizard
(Anolis carolinensis)
Reptilia FAM217A6
family with sequence similarity 217, member A
38(a)
1 ↔ 1
GL343209.1(438047-439488)


ENSEMBL Gene Tree for FAM217A (if available)
TreeFam Gene Tree for FAM217A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FAM217A gene

Find genes that share paralogs with FAM217A           About GenesLikeMe


1 Pseudogenes.org Pseudogene for FAM217A
PGOHUM00000236352


(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 FAM217A (see all 235)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs6881761,2
C,F,O,A,H--4068109(+) CCTTTT/CTCGCT 1 -- ds5001108Minor allele frequency- C:0.30NA EA NS PA EU CA WA CSA 7107
rs1119106901,2
C,F--4068111(+) TTTTTC/TGCTAG 1 -- ds50011Minor allele frequency- T:0.50NA 2
rs1859590261,2
--4068156(+) CTAACC/TAGCCT 1 -- ds50010--------
rs77400921,2
C,F,H--4068320(+) TTGGGC/TCCCAA 1 -- ds50015Minor allele frequency- T:0.02NS EA WA 510
rs6238611,2
C,F,H--4068335(+) AACTAT/CCTTTC 1 -- ds5001100Minor allele frequency- C:0.12NS NA EA WA PA EU CA 6210
rs1912803971,2
--4068353(+) TGACAA/GAGAAA 1 -- ds50010--------
rs6891121,2
C,F--4068356(+) CAAAGA/GCAGGC 1 -- ds50011Minor allele frequency- G:0.02EA 120
rs6891141,2
C,F--4068357(+) AAAGGA/CAGGCC 1 -- ds50011Minor allele frequency- C:0.02EA 120
rs1996730371,2
C--4068515(+) AAAAA-/ATGATA 1 -- ds50010--------
rs104851741,2
C,F,H--4068525(-) TATCAT/CTTTTT 1 -- ds500192Minor allele frequency- C:0.01NS EA PA EU CA WA NA CSA 5265

HapMap Linkage Disequilibrium report for FAM217A (4049668 - 4087578 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for FAM217A: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FAM217A
DNA2.0 Custom Variant and Variant Library Synthesis for FAM217A

(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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(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 FAM217A gene integrated from 10 sources:
(articles sorted by number of sources associating them with FAM217A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. 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: 222826 HGNC: 21362 AceView: C6orf146 Ensembl:ENSG00000145975 euGenes: HUgn222826
ECgene: FAM217A H-InvDB: FAM217A

(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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NameDescription
PharmGKB entry for FAM217A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FAM217A gene:
Search GeneIP for patents involving FAM217A

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



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Advanced Cell Diagnostics, Animal models from genOway)
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