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

FAM9A Gene

protein-coding   GIFtS: 41
GCID: GC0XM008759

Family With Sequence Similarity 9, Member A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Family With Sequence Similarity 9, Member A1 2
Testis Expressed 39A1 2
TEX39A2
Protein FAM9A2

External Ids:    HGNC: 184031   Entrez Gene: 1714822   Ensembl: ENSG000001833047   OMIM: 3004775   UniProtKB: Q8IZU13   

Export aliases for FAM9A gene to outside databases

Previous GC identifers: GC0XU990384 GC0XM008105 GC0XM008170 GC0XM008568 GC0XM008718 GC0XM006586


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

Entrez Gene summary for FAM9A Gene:
This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein
may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex
protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. (provided by
RefSeq, Aug 2011)

GeneCards Summary for FAM9A Gene: 
FAM9A (family with sequence similarity 9, member A) is a protein-coding gene. Diseases associated with FAM9A include uterine fibroid, and leiomyoma. An important paralog of this gene is FAM9B.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM9A gene promoter:
         S8   ATF-2   HSF2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM9A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM9A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM9A


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

Entrez Gene cytogenetic band: Xp22.32   Ensembl cytogenetic band:  Xp22.31   HGNC cytogenetic band: Xp22.32

FAM9A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM9A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM008759:  view genomic region     (about GC identifiers)

Start:
8,758,836 bp from pter      End:
8,769,424 bp from pter
Size:
10,589 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FAM9A_HUMAN, Q8IZU1 (See protein sequence)
Recommended Name: Protein FAM9A  
Size: 332 amino acids; 37339 Da
Subcellular location: Nucleus, nucleolus
Secondary accessions: B7ZLH5 Q2M2D1

Explore the universe of human proteins at neXtProt for FAM9A: NX_Q8IZU1

Explore proteomics data for FAM9A at MOPED 

FAM9A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

FAM9A Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_001164657.1  NP_777611.1  

ENSEMBL proteins: 
 ENSP00000370391   ENSP00000440163  

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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:0005730nucleolus IEA--

FAM9A for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR006888 Cor1/Xlr/Xmr

Graphical View of Domain Structure for InterPro Entry Q8IZU1

ProtoNet protein and cluster: Q8IZU1

UniProtKB/Swiss-Prot: FAM9A_HUMAN, Q8IZU1
Similarity: Belongs to the FAM9 family


FAM9A 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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--
     
FAM9A for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM9A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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Browse Tocris compounds for FAM9A

Search CenterWatch for drugs/clinical trials and news about FAM9A

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAM9A gene (2 alternative transcripts): 
NM_001171186.1  NM_174951.3  

Unigene Cluster for FAM9A:

Family with sequence similarity 9, member A
Hs.382062
Unigene Representative Sequence: NM_001171186
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000381003(uc004csg.3) ENST00000543214(uc022bsk.1)
miRNA
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Additional mRNA sequence: 

AF494343.1 BC112022.1 BC113449.1 BC143805.1 

1 DOTS entry:

DT.75140127 

3 AceView cDNA sequences:

NM_174951 AF494343 AI743444 

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

FAM9A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GTCAATTAAA
FAM9A Expression
About this image


See FAM9A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM9A

SOURCE GeneReport for Unigene cluster: Hs.382062

UniProtKB/Swiss-Prot: FAM9A_HUMAN, Q8IZU1
Tissue specificity: Expressed exclusively in testis

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM9A

(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
  --

ENSEMBL Gene Tree for FAM9A (if available)
TreeFam Gene Tree for FAM9A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for FAM9A gene
FAM9B2  FAM9C2  
1 SIMAP similar gene for FAM9A using alignment to 1 protein entry:     FAM9A_HUMAN:
FAM9C

FAM9A for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for FAM9A
PGOHUM00000249310


(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) 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

10/237 SNPs in FAM9A are shown (see all 237)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs59344841,2
C--8758380(+) CAAGAA/TCACAG 2 -- ds50010--------
rs1900854561,2
--8758580(+) CAGTGG/TCACAA 2 -- ds50010--------
rs1511431191,2
--8758705(+) TAGTAA/GAGATG 2 -- ds50010--------
rs1391164951,2
--8758711(+) AGATGA/GGGTTT 2 -- ds50010--------
rs1823396961,2
--8758878(+) TTCTAC/TGTTTT 2 -- ut310--------
rs1865124121,2
--8759276(+) CAGTGC/GTTACA 2 -- int10--------
rs617325701,2
C,F--8759332(+) GACACG/AATTCT 2 -- ut313Minor allele frequency- A:0.09NS CSA 54
rs617325711,2
C,F--8759342(+) TTTTTA/GAAAAC 2 -- ut311Minor allele frequency- G:0.03NS 70
rs1919826881,2
C--8759349(+) AAACAC/TGGCTA 2 -- ut310--------
rs1510835431,2
C,F--8759414(+) GTCCTT/CGGCAG 4 /K /E mis11Minor allele frequency- C:0.00NA 4496

HapMap Linkage Disequilibrium report for FAM9A (8758836 - 8769424 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for FAM9A:    About this table     
Variant IDTypeSubtypePubMed ID
esv2752339CNV Gain17911159


Locus Specific Mutation Databases (LSDB): FAM9A
SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 300477    OMIM disorders: --

2 diseases for FAM9A:    About MalaCards
uterine fibroid    leiomyoma

1 disease from the University of Copenhagen DISEASES database for FAM9A:
Uterine fibroid

FAM9A for disorders           About GeneDecksing


Export disorders for FAM9A 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 FAM9A gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM9A)
    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. (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. (2004)
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
  4. 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)

(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: 171482 HGNC: 18403 AceView: FAM9A Ensembl:ENSG00000183304 euGenes: HUgn171482
ECgene: FAM9A H-InvDB: FAM9A

(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 FAM9A 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 FAM9A gene:
Search GeneIP for patents involving FAM9A

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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