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FAM9C Gene

protein-coding   GIFtS: 38
GCID: GC0XM013053

Family With Sequence Similarity 9, Member C

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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 9, Member C1 2
Testis Expressed 39C1 2
TEX39C2
Protein FAM9C2

External Ids:    HGNC: 184051   Entrez Gene: 1714842   Ensembl: ENSG000001872687   OMIM: 3004795   UniProtKB: Q8IZT93   

Export aliases for FAM9C gene to outside databases

Previous GC identifers: GC0XU990386 GC0XM012415 GC0XM012813 GC0XP011142 GC0XM012964 GC0XM010816


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FAM9C Gene:
This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein
may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity
to a synaptonemal complex protein. (provided by RefSeq, Aug 2011)

GeneCards Summary for FAM9C Gene:
FAM9C (family with sequence similarity 9, member C) is a protein-coding gene. An important paralog of this gene is FAM9A.




(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 FAM9C
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM9C promoter sequence
   Search Chromatin IP Primers for FAM9C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM9C


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

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.32

FAM9C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM9C gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM013053:  view genomic region     (about GC identifiers)

Start:
13,053,736 bp from pter      End:
13,062,917 bp from pter
Size:
9,182 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: FAM9C_HUMAN, Q8IZT9 (See protein sequence)
Recommended Name: Protein FAM9C  
Size: 166 amino acids; 19210 Da
Secondary accessions: B2R9G7 Q5HYJ6

Explore the universe of human proteins at neXtProt for FAM9C: NX_Q8IZT9

Explore proteomics data for FAM9C at MOPED


See FAM9C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_777561.1  
ENSEMBL proteins: 
 ENSP00000369999   ENSP00000334430   ENSP00000409506   ENSP00000439185  

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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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1 InterPro protein domain:
 IPR006888 Cor1/Xlr/Xmr

Graphical View of Domain Structure for InterPro Entry Q8IZT9

ProtoNet protein and cluster: Q8IZT9

UniProtKB/Swiss-Prot: FAM9C_HUMAN, Q8IZT9
Similarity: Belongs to the FAM9 family


Find genes that share domains with FAM9C           About GenesLikeMe


(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:
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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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Subcellular locations from UniProtKB/Swiss-Prot
FAM9C_HUMAN, Q8IZT9: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol2

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

Find genes that share ontologies with FAM9C           About GenesLikeMe


(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 FAM9C
Interactions:

    Search GeneGlobe Interaction Network for FAM9C

(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
   Browse drugs & compounds from Enzo Life Sciences
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Browse Tocris compounds for FAM9C



(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 FAM9C gene: 
NM_174901.5  

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000380625 ENST00000468287 ENST00000333995 ENST00000438997 ENST00000542843(uc004cvh.2 uc004cvg.3)

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11 AceView cDNA sequences:

BM832944 BX648111 AI214289 BQ081938 AI650599 BX648919 BX647580 BI521529 
AI969041 BI522314 AW444496 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for FAM9C    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1:        -                       -                           
SP2:                                                            


ECgene alternative splicing isoforms for FAM9C

(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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FAM9C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
FAM9C Expression
About this image

FAM9C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM9C Protein Expression

UniProtKB/Swiss-Prot: FAM9C_HUMAN, Q8IZT9
Tissue specificity: Expressed exclusively in testis

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In Situ
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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 human and chimp.

Orthologs for FAM9C gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia FAM9C1 family with sequence similarity 9, member C 99.4(n)
98.19(a)
  735851  XM_001135435.2  XP_001135435.2 


ENSEMBL Gene Tree for FAM9C (if available)
TreeFam Gene Tree for FAM9C (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FAM9C gene
FAM9A2  FAM9B2  
3 SIMAP similar genes for FAM9C using alignment to 3 protein entries:     FAM9C_HUMAN (see all proteins):
DKFZp686B0429    FAM9A    FAM9B

Find genes that share paralogs with FAM9C           About GenesLikeMe


2 Pseudogenes.org Pseudogenes for FAM9C
PGOHUM00000260945 PGOHUM00000261037


(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 FAM9C (see all 211)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1435331361,2
C--12968659(+) TAACAA/GCTGCA 1 -- ds50010--------
rs1861525581,2
--12969123(+) ATGCAC/GAGATA 1 -- ds50010--------
rs1918982031,2
--12969267(+) GACTGC/TGTATG 1 -- ut310--------
rs1467541131,2
--12969527(+) CTCTTA/GCTGCA 1 -- ut310--------
rs98872201,2
C,F,H--12969565(+) ATTGCG/AATACA 1 -- int1 ese39Minor allele frequency- A:0.13NS EA NA 1198
rs1817160911,2
--12969606(+) ACATCA/GATCCT 1 -- int10--------
rs669310311,2
--12970312(+) CAAAT-/ATGCACG 1 -- int10--------
rs1499188021,2
--12970488(+) AGCATC/GAGAGT 1 -- int10--------
rs59797921,2
C,F,H--12970535(+) AGAGGC/TGGGAA 1 -- int1 ese38Minor allele frequency- T:0.16NS EA NA 1178
rs1138208651,2
C,F--12970536(+) GAGGCG/AGGAAG 1 -- int11Minor allele frequency- A:0.50WA 2

HapMap Linkage Disequilibrium report for FAM9C (13053736 - 13062917 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for FAM9C: --
Human Gene Mutation Database (HGMD): FAM9C
Locus Specific Mutation Databases (LSDB): FAM9C

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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: 300479    OMIM disorders: --


Find genes that share disorders with FAM9C           About GenesLikeMe

Genetic Association Database (GAD): FAM9C

Export disorders for FAM9C 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 FAM9C gene integrated from 10 sources:
(articles sorted by number of sources associating them with FAM9C)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region. (PubMed id 12213195)1, 2, 9 Martinez-Garay I....Kutsche K. (Genomics 2002)
  2. 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)
  3. FAM9C plays an anti-apoptotic role through activation of the PI3K/Akt pathway in human hepatocellular carcinoma. (PubMed id 23836295)1 Zhou J.D....Wu J.C. (Oncol. Rep. 2013)
  4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
  6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 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. (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: 171484 HGNC: 18405 AceView: FAM9C Ensembl:ENSG00000187268 euGenes: HUgn171484
ECgene: FAM9C H-InvDB: FAM9C

(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 FAM9C 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 FAM9C gene:
Search GeneIP for patents involving FAM9C

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 antibodies-online kits for FAM9C (2 products)
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 antibodies-online proteins for FAM9C (5 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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