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

FAM3A Gene

protein-coding   GIFtS: 50
GCID: GC0XM153734

family with sequence similarity 3, member A

 Explore 3 diseases affiliated with
FAM3A via our new
 Human Malady Compendium 
Biological research products
for FAM3A
    

(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
Family With Sequence Similarity 3, Member A1 2     Cytokine-Like Protein 2-192 3
DXS560S1 2     2.192 3
XAP-71 2     DLD2
2-191 3     Protein FAM3A2

External Ids:    HGNC: 137491   Entrez Gene: 603432   Ensembl: ENSG000000718897   OMIM: 3004925   UniProtKB: P981733   
ORGUL members:         
NONCODE:n409107    

Export aliases for FAM3A gene to outside databases

Previous GC identifers: GC0XM147792 GC0XM150115 GC0XM151320 GC0XM152202 GC0XM153298 GC0XM153387 GC0XM142310


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

UniProtKB/Swiss-Prot: FAM3A_HUMAN, P98173
Function: May act as a defensin against invading fungal microorganisms




(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_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM3A gene promoter:
         STAT1   p53   STAT1beta   RelA   HNF-4alpha2   STAT1alpha   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM3A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM3A


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

FAM3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM3A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM153734:  view genomic region     (about GC identifiers)

Start:
153,733,323 bp from pter      End:
153,744,566 bp from pter
Size:
11,244 bases      Orientation:
minus strand

(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: FAM3A_HUMAN, P98173 (See protein sequence)
Recommended Name: Protein FAM3A precursor  
Size: 230 amino acids; 25152 Da
Subcellular location: Secreted (Potential)
Secondary accessions: B2RBI7 B4DFI8 D3DWX4 Q5HY76 Q96H51
Alternative splicing: 2 isoforms:  P98173-1   P98173-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM3A: NX_P98173

FAM3A Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (4 alternative transcripts): 
NP_001164603.1  NP_001164604.1  NP_001164605.1  NP_068578.2  

ENSEMBL proteins: 
 ENSP00000352955   ENSP00000358657   ENSP00000416146   ENSP00000320521   ENSP00000393086  
 ENSP00000358655   ENSP00000377202   ENSP00000404171   ENSP00000415843   ENSP00000396845  
 ENSP00000401367   ENSP00000407870   ENSP00000397396   ENSP00000406340   ENSP00000408973  
 ENSP00000392624   ENSP00000396243  

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OriGene Purified Protein: FAM3A
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Novus Biologicals FAM3A Protein
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Browse Sino Biological Recombinant Proteins
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Uscn Proteins for FAM3A

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005576extracellular region IEA--


FAM3A for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for FAM3A


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

FAM3A for domains           About GeneDecksing

1 InterPro domain/family:
 IPR026101 FAM3

Graphical View of Domain Structure for InterPro Entry P98173

ProtoNet protein and cluster: P98173

UniProtKB/Swiss-Prot: FAM3A_HUMAN, P98173
Similarity: Belongs to the FAM3 family


(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

Function Summary:

     UniProtKB/Swiss-Prot: FAM3A_HUMAN, P98173
Function: May act as a defensin against invading fungal microorganisms

miRNA
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6 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM3A:
hsa-miR-4261 hsa-miR-1184 hsa-miR-4288 hsa-miR-632 hsa-miR-1299 hsa-miR-3943
SwitchGear 3'UTR luciferase reporter plasmidFAM3A 3' UTR sequence
Inhib. RNA
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM3A

Gene Editing
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Clone
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM3A

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--


FAM3A for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for FAM3A:
 Increased gamma-H2AX phosphory 

Animal Models:
     1 MGI phenotypic allele for Fam3a (no phenotypes)

FAM3A for phenotypes           About GeneDecksing


(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 FAM3A

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for FAM3A (P981733 ENSP000003529554) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CREB3O438893I2D: score=1 
PACRGLENSP000002952904STRING: ENSP00000295290
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--


FAM3A for ontologies           About GeneDecksing



(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 FAM3A
Search CenterWatch for drugs/clinical trials and news about FAM3A 

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAM3A gene (4 alternative transcripts): 
NM_001171132.1  NM_001171133.1  NM_001171134.1  NM_021806.2  

Unigene Cluster for FAM3A:

Family with sequence similarity 3, member A
Hs.289108  [show with all ESTs]
Unigene Representative Sequence: NR_033237
18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
ENST00000359889 ENST00000369643 ENST00000447601 ENST00000322269 ENST00000469041
ENST00000419205 ENST00000369641 ENST00000393572 ENST00000475657 ENST00000449971
ENST00000416319 ENST00000426266 ENST00000440318 ENST00000457212 ENST00000412894
ENST00000421517 ENST00000497506 ENST00000442929

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM3A
6 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM3A:
hsa-miR-4261 hsa-miR-1184 hsa-miR-4288 hsa-miR-632 hsa-miR-1299 hsa-miR-3943
SwitchGear 3'UTR luciferase reporter plasmidFAM3A 3' UTR sequence
Inhib. RNA
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OriGene siRNA: FAM3A
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM3A
Clone
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM3A

Additional cDNA sequence: 

AK024601.1 AK057945.1 AK294116.1 AK314682.1 BC008912.2 NR_033237.1 X74610.1 X87193.1 

24/25 DOTS entries (see all 25):

DT.454876  DT.100029830  DT.95097567  DT.100812721  DT.121293809  DT.95236851  DT.100812727  DT.91754049 
DT.100812732  DT.100716669  DT.100812742  DT.91754047  DT.121294724  DT.91754046  DT.95309207  DT.100029829 
DT.100669625  DT.100812737  DT.40106365  DT.40310720  DT.101972691  DT.121294104  DT.40223786  DT.75135543 

24/314 AceView cDNA sequences (see all 314):

BQ006624 BQ962520 BE677237 BP382220 BM681603 CA422871 AA411310 BM682209 
BM924611 AI978968 H43698 AA363964 AK024601 AI991889 H61228 BU859705 
AI268794 AA322095 BI766818 BM980586 BU556849 CF887464 BM706364 BU735081 

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for FAM3A (see all 8)    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c
SP1:                                                  -                 -     -                       -                                                         
SP2:                                            -     -     -           -     -                       -                                                         
SP3:                                                  -     -           -                             -                                                         
SP4:                                                  -                 -     -                       -     -                                                   
SP5:                                                                                                                                                            


ECgene alternative splicing isoforms for FAM3A

(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

FAM3A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCCTGACTG

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

About this image
See FAM3A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM3A

SOURCE GeneReport for Unigene cluster: Hs.289108

UniProtKB/Swiss-Prot: FAM3A_HUMAN, P98173
Tissue specificity: In similar amounts in testis, pancreas, adrenal, placenta, brain, fetal brain, liver, kidney,
skeletal muscle and heart

    SABiosciences Custom PCR Arrays for FAM3A
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM3A

(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 animals.

Orthologs for FAM3A gene from 4/14 species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
lizard
(Anolis carolinensis)
Reptilia FAM3A6
--
79(a)
1 ↔ 1
1(204807410-204820460)
African clawed frog
(Xenopus laevis)
Amphibia fam3a-prov2 family with sequence similarity 3, member A 75.06(n)    BC043826.1 
zebrafish
(Danio rerio)
Actinopterygii zgc733502 hypothetical protein MGC73350 74.98(n)   393773  BC059665.1 
worm
(Caenorhabditis elegans)
Secernentea Y73B3A.36
M70.46
Protein M70.4
6(a)
6(a)
many ↔ many
many ↔ many
X(84043-93664)
IV(2253004-2263662)


ENSEMBL Gene Tree for FAM3A (if available)
TreeFam Gene Tree for FAM3A (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for FAM3A gene
FAM3D2  FAM3C2  FAM3B2  
18/99 SIMAP similar genes for FAM3A using alignment to 12 protein entries:     FAM3A_HUMAN (see all proteins) (see all similar genes):
GRIK2    MEFV    SUN3    ARV1    ATL2    C10orf137
C11orf80    COL24A1    COX7A2    IFT122    LAMA5    POU4F3
UTY    HKR1    POMZP3    THEMIS    BUB1B    C12orf23

FAM3A for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for FAM3A
PGOHUM00000250065


(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

10/194 NCBI SNPs in FAM3A are shown (see all 194    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1470597671,2
C,--153732880(+) CCCAGA/GCTGGA 5 -- ds50010--------
rs1812055491,2
--153732951(+) TGCCTC/TGGCCT 5 -- ds50010--------
rs1861832851,2
--153732984(+) CGCCCA/GCCACC 5 -- ds50010--------
rs1913744101,2
--153732991(+) CACCAC/TGCCTG 5 -- ds50010--------
rs1836188801,2
--153733020(+) GAGACA/GGGAGT 5 -- ds50010--------
rs1885866141,2
--153733028(+) AGTCAC/TGCTCT 5 -- ds50010--------
rs1911821841,2
--153733090(+) CCTCCC/TGGGTT 5 -- ds50010--------
rs1832705721,2
--153733098(+) GTTCAC/TGCCAT 5 -- ds50010--------
rs1868862541,2
--153733151(+) CGCCAC/GCACGC 5 -- ds50010--------
rs1384970721,2
--153733153(+) CCACCA/GCGCCC 5 -- ds50010--------

HapMap Linkage Disequilibrium report for FAM3A (153733323 - 153744566 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for FAM3A: --
Locus Specific Mutation Databases (LSDB): FAM3A

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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

FAM3A for disorders           About GeneDecksing

OMIM gene information: 300492    OMIM disorders: --

3 diseases for FAM3A:    About MalaCards
muscle-eye-brain disease    hearing loss    brain disease

1 disease from the University of Copenhagen DISEASES database for FAM3A:
Nonsyndromic deafness

Export disorders for FAM3A 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 FAM3A gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with FAM3A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. (PubMed id 8733135)1, 2, 3 Chen E.Y....D'Urso M. (1996)
  2. Cloning, expression, and initial characterization of a novel cytokine-like gene family. (PubMed id 12160727)1, 2, 9 Zhu Y.... Young P.R. (2002)
  3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
  4. 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)
  5. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. (PubMed id 8248200)1, 2 Bione S.... Toniolo D. (1993)
  6. Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection. (PubMed id 8281148)1, 3 Sedlacek Z.... Poustka A. (1993)
  7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  8. Drosomycin-like defensin, a human homologue of Drosophila melanogaster drosomycin with antifungal activity. (PubMed id 18212107)1 Simon A....Netea M.G. (2008)
  9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 60343 HGNC: 13749 AceView: FAM3A Ensembl:ENSG00000071889 euGenes: HUgn60343
ECgene: FAM3A H-InvDB: FAM3A

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for FAM3A 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 FAM3A gene:
Search GeneIP for patents involving FAM3A

GeneCards and IP:
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