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

FAM65B Gene

protein-coding   GIFtS: 49
GCID: GC06M024804

family with sequence similarity 65, member B

(Previous name: chromosome 6 open reading frame 32 )
(Previous symbol: C6orf32)
 Explore 1 disease affiliated with
FAM65B via our new
 Human Malady Compendium 
Biological research products
for FAM65B
    

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

Aliases
Family With Sequence Similarity 65, Member B1 2     MYONAP1 2
C6orf321 2 3 5     Chromosome 6 Open Reading Frame 321
DIFF481 2 3     DIFF402
KIAA03861 3 5     Myogenesis-Related And NCAM-Associated Protein Homolog2
PL482 3 5     Protein FAM65B2

External Ids:    HGNC: 138721   Entrez Gene: 97502   Ensembl: ENSG000001119137   OMIM: 6114105   UniProtKB: Q9Y4F93   

Export aliases for FAM65B gene to outside databases

Previous GC identifer: GC06M024913


(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 FAM65B:
The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative
cytotrophoblasts during trophoblast differentiation. Two alternatively spliced transcript variants have been found for
this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FA65B_HUMAN, Q9Y4F9
Function: Isoform 2 play a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia
formation




(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_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM65B gene promoter:
         IRF-2   POU2F1   POU2F1a   STAT5A   NF-E2 p45   NF-E2   LCR-F1   Evi-1   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM65B promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM65B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM65B


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

Entrez Gene cytogenetic band: 6p22.3-p21.32   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.3-p21.32

FAM65B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM65B gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M024804:  view genomic region     (about GC identifiers)

Start:
24,797,601 bp from pter      End:
25,042,238 bp from pter
Size:
244,638 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: FA65B_HUMAN, Q9Y4F9 (See protein sequence)
Recommended Name: Protein FAM65B  
Size: 1068 amino acids; 118519 Da
Subcellular location: Isoform 1: Mitochondrion
Subcellular location: Isoform 2: Cytoplasm, cytoskeleton. Cell projection, filopodium. Note=Detected in cellular
filopodia
Miscellaneous: Cells lacking isoform 2 exhibit a severe reduction of myotube formation. In contrast, isoform 2
overexpression induces formation of filopodia
Sequence caution: Sequence=AAC51134.1; Type=Frameshift; Positions=Several; Sequence=BAA20840.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6NHP2 Q13529 Q5VV37 Q5VV38 Q9BQ28
Alternative splicing: 2 isoforms:  Q9Y4F9-1   Q9Y4F9-2   

Explore the universe of human proteins at neXtProt for FAM65B: NX_Q9Y4F9

Post-translational modifications:

  • Asn-41 was reported (PubMed:16335952) to be N-glycosylated; however as this position is probably not extracellular, the
  • in vivo relevance is not proven1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y4F9

  • FAM65B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_055537.2  NP_056948.2  

    ENSEMBL proteins: 
     ENSP00000455145   ENSP00000259698   ENSP00000367262   ENSP00000441138   ENSP00000441305  
     ENSP00000438425  

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    Uscn Proteins for FAM65B

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005856cytoskeleton IEA--
    GO:0030175filopodium IEA--


    FAM65B 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

    FAM65B for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011989 ARM-like
     IPR016024 ARM-type_fold
     IPR026136 FAM65

    Graphical View of Domain Structure for InterPro Entry Q9Y4F9

    ProtoNet protein and cluster: Q9Y4F9

    UniProtKB/Swiss-Prot: FA65B_HUMAN, Q9Y4F9
    Similarity: Belongs to the FAM65 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: FA65B_HUMAN, Q9Y4F9
    Function: Isoform 2 play a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia
    formation

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM65B

    2 GenomeRNAi human phenotypes for FAM65B:
     Increased G1 DNA content  Increased cell number in G2M,  


    (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 FAM65B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/8 Interacting proteins for FAM65B (Q9Y4F93 ENSP000002596984) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619813, ENSP000003063304I2D: score=3 STRING: ENSP00000306330
    YWHAZP631043, ENSP000003095034I2D: score=2 STRING: ENSP00000309503
    WNK1Q9H4A33, ENSP000003130594I2D: score=1 STRING: ENSP00000313059
    RPS6KA3P518123I2D: score=2 
    YWHAEP622583I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007517muscle organ development IEA--
    GO:0030154cell differentiation IEA--


    FAM65B 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 FAM65B
    Search CenterWatch for drugs/clinical trials and news about FAM65B / FA65B 

    (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

    REFSEQ mRNAs for FAM65B gene (2 alternative transcripts): 
    NM_014722.2  NM_015864.2  

    Unigene Cluster for FAM65B:

    Family with sequence similarity 65, member B
    Hs.559459  [show with all ESTs]
    Unigene Representative Sequence: NM_014722
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562221 ENST00000259698(uc003neo.1 uc011djs.1) ENST00000463828
    ENST00000378023(uc003nep.3) ENST00000473070 ENST00000538035 ENST00000510784
    ENST00000540914(uc011djt.2 uc011dju.2)

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    hsa-miR-513a-5p hsa-miR-15a hsa-miR-146a hsa-miR-548k hsa-miR-128 hsa-miR-503 hsa-miR-29a hsa-miR-628-3p
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    Additional cDNA sequence: 

    AB002384.1 AF085914.1 AK096033.1 AK299047.1 AK300138.1 AK300950.1 BC000930.2 BC001232.1 
    U49187.1 

    17 DOTS entries:

    DT.95170505  DT.86854476  DT.409096  DT.91967050  DT.95170507  DT.100705443  DT.40120076  DT.95170508 
    DT.95170511  DT.99933741  DT.100744724  DT.121365611  DT.121365654  DT.121365666  DT.95170506  DT.95170510 
    DT.91993529 

    24/160 AceView cDNA sequences (see all 160):

    BM919248 AI219533 AI741933 AA808034 BX492900 AW572692 AA768221 BP381591 
    AA280918 AI809847 BM463096 AI434379 BC000930 BM721746 AA832442 AI222026 
    BI908375 BM917716 BC001232 AW950867 AI440344 NM_015864 BX324874 AI762675 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FAM65B    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^
    SP1:                                                                                            -     -           -           -                                 
    SP2:                                                                                -           -                                                               
    SP3:                                                                                -                                                                           
    SP4:                                                                                                                          -                                 
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for FAM65B

    (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

    FAM65B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAGTTAAAA

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

    About this image

    FAM65B 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: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM65B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM65B

    SOURCE GeneReport for Unigene cluster: Hs.559459

    UniProtKB/Swiss-Prot: FA65B_HUMAN, Q9Y4F9
    Tissue specificity: Isoform 1 is present in the brain. Isoform 2 is expressed during differentiation of fetal primary
    myoblasts. Also shows marked expression during cytotrophoblast differentiation

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FAM65B gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM65B1 family with sequence similarity 65, member B 74.33(n)
    78.39(a)
      421003  NM_001012865.1  NP_001012883.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM65B6
    --
    72(a)
    1 ↔ 1
    4(53857412-53904433)
    zebrafish
    (Danio rerio)
    Actinopterygii fam65b1 family with sequence similarity 65, member B 60.21(n)
    57.5(a)
      563800  NM_001045026.1  NP_001038491.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C27H2.26
    --
    19(a)
    1 → many
    IV(13952690-13963976)


    ENSEMBL Gene Tree for FAM65B (if available)
    TreeFam Gene Tree for FAM65B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM65B gene
    FAM65A2  FAM65C2  
    2 SIMAP similar genes for FAM65B using alignment to 5 protein entries:     FA65B_HUMAN (see all proteins):
    FAM65A    FAM65C

    FAM65B for paralogs           About GeneDecksing



    (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

    10/1736 NCBI SNPs in FAM65B are shown (see all 1736    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1903207851,2
    --24804161(+) GCACTC/TTGGGA 1 -- ds50010--------
    rs1810096261,2
    --24804229(+) AGAAAA/CCCCAT 1 -- ds50010--------
    rs44906551,2
    C,F,A,--24804299(+) TCGAGA/GGGCTG 1 -- ds50014Minor allele frequency- G:0.38NA WA CSA 8
    rs1420344811,2
    --24804327(+) GAACTC/TGGGAG 1 -- ds50010--------
    rs44875681,2
    C,F,A,--24804363(+) GCACCG/ATTGCA 1 -- ds50014Minor allele frequency- A:0.38NA WA CSA 8
    rs122136821,2
    C,F,--24804377(+) CAGCCA/GGGGCA 1 -- ds50014Minor allele frequency- G:0.25NA WA 8
    rs1860360511,2
    --24804517(+) TGCTAA/GTAATT 1 -- ut310--------
    rs1897095511,2
    --24804523(+) TAATTA/CAAAAA 1 -- ut310--------
    rs1813012441,2
    --24804551(+) TACATA/GACTGA 1 -- ut310--------
    rs755445061,2
    C,--24804592(+) AAGCA-/CCCCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FAM65B (24797601 - 25042238 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for FAM65B
         7 CNVs: 23794 23127 62485 99469 36499 43607 99470
         3 Indels: 40843 47089 59317

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FAM65B

    (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

    FAM65B for disorders           About GeneDecksing

    OMIM gene information: 611410    OMIM disorders: --

    1 disease for FAM65B:    About MalaCards
    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: FAM65B (1 document)

    Export disorders for FAM65B 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 FAM65B gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with FAM65B)
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    world of online information

    1. C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia. (PubMed id 17150207)1, 2, 3 Yoon S.... Gussoni E. (2007)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
    3. Identification and characterization of a novel neural cell adhesion molecule (NCAM)-associated protein from quail myoblasts: relatio nship to myotube formation and induction of neurite-like protrusions. (PubMed id 17825087)1, 3 Hirayama E. and Kim J. (2008)
    4. PL48: a novel gene associated with cytotrophoblast and lineage- specific HL-60 cell differentiation. (PubMed id 9055809)1, 2 Dakour J.... Morrish D.W. (1997)
    5. Family-based genome-wide association study of frontal theta oscillations identifies potassium channel gene KCNJ6. (PubMed id 22554406)1 Kang S.J....Porjesz B. (2012)
    6. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    7. PC3 prostate tumor-initiating cells with molecular pr ofile FAM65Bhigh/MFI2low/LEF1low increase tumor angiogenesis. (PubMed id 21190562)1 Zhang K. and Waxman D.J. (2010)
    8. Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment. (PubMed id 19367720)2 Carrascal M.... Abian J. (2008)
    9. 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)
    10. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)2 Liu T.... Smith R.D. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9750 HGNC: 13872 AceView: C6orf32 Ensembl:ENSG00000111913 euGenes: HUgn9750
    ECgene: FAM65B H-InvDB: FAM65B

    (According to HUGE)
    About This Section
    HUGE: KIAA0386

    (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 FAM65B 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 FAM65B gene:
    Search GeneIP for patents involving FAM65B

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



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