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FAM134B Gene

protein-coding   GIFtS: 50
GCID: GC05M016473

Family With Sequence Similarity 134, Member B

  See FAM134B-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)
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Aliases
Family With Sequence Similarity 134, Member B1 2
JK-12
JK12
Protein FAM134B2
HSAN2B5

External Ids:    HGNC: 259641   Entrez Gene: 544632   Ensembl: ENSG000001541537   OMIM: 6131145   UniProtKB: Q9H6L53   

Export aliases for FAM134B gene to outside databases

Previous GC identifer: GC05M016527


(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 FAM134B Gene:
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term
survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory
and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular
dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
(provided by RefSeq, Nov 2011)

GeneCards Summary for FAM134B Gene:
FAM134B (family with sequence similarity 134, member B) is a protein-coding gene. Diseases associated with FAM134B include hereditary sensory and autonomic neuropathy type iib, and vascular dementia. An important paralog of this gene is FAM134C.

UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5
Function: Required for long-term survival of nociceptive and autonomic ganglion neurons




(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_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM134B gene promoter:
         USF1   MyoD   HNF-1A   CREB   POU2F1   HNF-1   USF-1   POU2F1a   RSRFC4   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FAM134B promoter sequence
   Search Chromatin IP Primers for FAM134B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM134B


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

Entrez Gene cytogenetic band: 5p15.1   Ensembl cytogenetic band:  5p15.1   HGNC cytogenetic band: 5p15.1

FAM134B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM134B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M016473:  view genomic region     (about GC identifiers)

Start:
16,473,147 bp from pter      End:
16,617,167 bp from pter
Size:
144,021 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5 (See protein sequence)
Recommended Name: Protein FAM134B  
Size: 497 amino acids; 54681 Da
Sequence caution: Sequence=AAH30517.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA90982.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15252.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q69YN8 Q9H6K6 Q9H764 Q9NXM8
Alternative splicing: 2 isoforms:  Q9H6L5-1   Q9H6L5-2   

Explore the universe of human proteins at neXtProt for FAM134B: NX_Q9H6L5

Explore proteomics data for FAM134B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys160
  • Modification sites at PhosphoSitePlus

  • See FAM134B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001030022.1  NP_061873.2  

    ENSEMBL proteins: 
     ENSP00000425089   ENSP00000382691   ENSP00000304642  

    FAM134B Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FAM134B

     
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    FAM134B Antibody Products:

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    Abcam antibodies for FAM134B
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    LSBio Antibodies in human, mouse, rat for FAM134B

    FAM134B Assay Products:

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    Search eBioscience for ELISAs for FAM134B 


    (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:
     IPR003388 Reticulon

    Graphical View of Domain Structure for InterPro Entry Q9H6L5

    ProtoNet protein and cluster: Q9H6L5

    UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5
    Similarity: Belongs to the FAM134 family


    Find genes that share domains with FAM134B           About GenesLikeMe


    (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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: F134B_HUMAN, Q9H6L5
    Function: Required for long-term survival of nociceptive and autonomic ganglion neurons

    Phenotypes:
         1 GenomeRNAi human phenotype for FAM134B:

     Low eccentricity cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM134B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM134B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAM134B

    miRNA
    Products:
        
    miRTarBase miRNAs that target FAM134B:
    hsa-mir-124-3p (MIRT022158), hsa-mir-1260b (MIRT052774)

    Block miRNA regulation of human, mouse, rat FAM134B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM134B (see all 35):
    hsa-miR-579 hsa-miR-548j hsa-miR-3194-5p hsa-miR-875-5p hsa-miR-548k hsa-miR-548l hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidFAM134B 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FAM134B
    Predesigned siRNA for gene silencing in human, mouse, rat FAM134B

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): FAM134B (NM_001034850)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM134B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM134B

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    Browse ESI BIO Cell Lines and PureStem Progenitors for FAM134B 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM134B


    (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
    F134B_HUMAN, Q9H6L5: Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus3
    plasma membrane3
    endoplasmic reticulum2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005801cis-Golgi network ISS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with FAM134B           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 FAM134B
    Interactions:

        Search GeneGlobe Interaction Network for FAM134B

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019233sensory perception of pain IMP19838196

    Find genes that share ontologies with FAM134B           About GenesLikeMe



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAM134B (F134B)



    (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 FAM134B gene (2 alternative transcripts): 
    NM_001034850.2  NM_019000.4  

    Unigene Cluster for FAM134B:

    Family with sequence similarity 134, member B
    Hs.481704  [show with all ESTs]
    Unigene Representative Sequence: NM_001034850
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000510362 ENST00000399793(uc003jfr.3) ENST00000306320(uc003jfs.3)
    ENST00000509977 ENST00000506441 ENST00000509048
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FAM134B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAM134B (see all 35):
    hsa-miR-579 hsa-miR-548j hsa-miR-3194-5p hsa-miR-875-5p hsa-miR-548k hsa-miR-548l hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidFAM134B 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FAM134B
    Predesigned siRNA for gene silencing in human, mouse, rat FAM134B
    Clone
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    OriGene clones in human, mouse for FAM134B (see all 15)
    OriGene ORF clones in mouse, rat for FAM134B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): FAM134B (NM_001034850)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM134B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM134B
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FAM134B
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM134B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM134B
      QuantiTect SYBR Green Assays in human, mouse, rat FAM134B
      QuantiFast Probe-based Assays in human, mouse, rat FAM134B

    Additional mRNA sequence: 

    AK000159.1 AK024920.1 AK025808.1 AK025832.1 AK225371.1 AL832438.1 BC020603.1 BC030517.1 
    BC053326.1 BC073132.1 

    5 DOTS entries:

    DT.443389  DT.92432097  DT.97804173  DT.120877667  DT.85101065 

    Selected AceView cDNA sequences (see all 217):

    BU737867 BM929418 AK024920 AI522110 AA232734 AI536745 AL832438 AV652599 
    BU071262 AW960770 BI467258 NM_019000 BQ018065 BU679367 BC053326 AA745721 
    AI816890 AA773610 BQ184223 AW304670 AI241362 BM505308 CK822590 BE463401 

    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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    FAM134B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTGTTTG
    FAM134B Expression
    About this image


    FAM134B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
    FAM134B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM134B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.481704
        Custom PCR Arrays for FAM134B
    Primer
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    OriGene qPCR primer pairs and template standards for FAM134B
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    QuantiFast Probe-based Assays in human, mouse, rat FAM134B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM134B

    (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 FAM134B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam134b1 , 5 family with sequence similarity 134, member B1, 5 86.39(n)1
    88.33(a)1
      15 (9.59 cM)5
    662701  NM_001034851.21  NP_001030023.11 
     258432645 
    chicken
    (Gallus gallus)
    Aves LOC1008597981 protein FAM134B-like 75.8(n)
    71.19(a)
      100859798  XM_003640778.2  XP_003640826.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM134B6
    family with sequence similarity 134, member B
    60(a)
    1 ↔ 1
    4(60162321-60228075)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fam134b1 family with sequence similarity 134, member B 66.67(n)
    58.46(a)
      100145538  NM_001126975.1  NP_001120447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000035241 protein FAM134B-like 57.61(n)
    50.25(a)
      100003524  XM_001343026.3  XP_001343062.1 


    ENSEMBL Gene Tree for FAM134B (if available)
    TreeFam Gene Tree for FAM134B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM134B gene
    FAM134C2  FAM134A2  
    2 SIMAP similar genes for FAM134B using alignment to 2 protein entries:     F134B_HUMAN (see all proteins):
    LOC162427    FAM134C

    Find genes that share paralogs with FAM134B           About GenesLikeMe



    (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 FAM134B (see all 3069)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617338111,2
    C,Fnon-pathogenic116421781(+) GACCAC/GTGTCC 4 T S mis14Minor allele frequency- G:0.06NS CSA WA EU 1517
    rs344325131,2,,4
    C,Fnon-pathogenic116421791(-) AGGAAC/GAGTTG 4 Q E mis13Minor allele frequency- G:0.07NA WA 194
    rs1378527391,2
    Cpathogenic116424427(-) CGTCTC/GAGAGG 4 S * stg10--------
    rs1378527371,2
    Cpathogenic116512473(-) GTGCAC/TAGTTG 2 Q * stg10--------
    rs1378866551,2
    C--16419247(+) AGTGA-/CCCCCC 2 -- ds50010--------
    rs1930996961,2
    --16419255(+) CCCCAA/CCACCA 2 -- ds50010--------
    rs2014033781,2
    C--16419269(+) CACAC-/ATATACA 2 -- ds50010--------
    rs260151,2
    C,F,A,H--16419287(-) TTGAAG/AGTTCT 2 -- ds500136Minor allele frequency- A:0.25EA NA NS WA CSA 3410
    rs105208411,2
    C,F,H--16419463(+) ATTTTT/CCTACC 2 -- ds500197Minor allele frequency- C:0.02NS NA EA WA PA EU CA CSA 5968
    rs773497591,2
    C,F--16419486(+) TCCCAT/CCCTCA 2 -- ds50011Minor allele frequency- C:0.04NA 120

    HapMap Linkage Disequilibrium report for FAM134B (16473147 - 16617167 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM134B (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1983383CNV Deletion18987734
    esv2729835CNV Deletion23290073
    esv2670384CNV Deletion23128226
    esv2729834CNV Deletion23290073
    esv2729836CNV Deletion23290073
    dgv982e201CNV Deletion23290073
    esv2664300CNV Deletion23128226
    esv2729832CNV Deletion23290073
    esv1371607CNV Insertion17803354
    esv1003044CNV Insertion20482838

    Human Gene Mutation Database (HGMD): FAM134B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM134B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM134B

    (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: 613114   
    OMIM disorders: 613115  
    UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5
  • Neuropathy, hereditary sensory and autonomic, 2B (HSAN2B) [MIM:613115]: A form of hereditary sensory and
    autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration
    of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an
    autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs
    in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and
    feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction
    includes hyperhidrosis, urinary incontinence, and slow pupillary light response. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for FAM134B:    
    About MalaCards
    hereditary sensory and autonomic neuropathy type iib    vascular dementia    autonomic neuropathy    hereditary sensory and autonomic neuropathy type ii
    dementia    spasticity    neuropathy


    Find genes that share disorders with FAM134B           About GenesLikeMe

    Genetic Association Database (GAD): FAM134B
    Human Genome Epidemiology (HuGE) Navigator: FAM134B (1 document)

    Export disorders for FAM134B 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 FAM134B gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with FAM134B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. (PubMed id 19838196)1, 2, 3 Kurth I.... Huebner C.A. (Nat. Genet. 2009)
    2. Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. (PubMed id 24327336)1, 3 Aydinlar E.I....Parman Y. (amp 2013)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Mutation in FAM134B causing severe hereditary sensory neuropathy. (PubMed id 21115472)1 Murphy S.M....Reilly M.M. (J. Neurol. Neurosurg. Psychiatr. 2012)
    5. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. (PubMed id 22302274)2 Davidson G.L.... Reilly M.M. (J. Neurol. 2012)
    6. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    7. A strong synergistic epistasis between FAM134B and TNFRSF19 on the susceptibility to vascular dementia. (PubMed id 21127458)1 Kong M....Lee C. (Psychiatr. Genet. 2011)
    8. 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)
    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. (Genomics 2007)
    10. Oncogenic properties of a novel gene JK-1 located in chromosome 5p and its overexpression in human esophageal squamous cell carcinoma. (PubMed id 17487424)1 Tang W.K....Tang J.C. (Int. J. Mol. Med. 2007)

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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: 54463 HGNC: 25964 AceView: FLJ20152 Ensembl:ENSG00000154153 euGenes: HUgn54463
    ECgene: FAM134B H-InvDB: FAM134B

    (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 FAM134B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for FAM134B gene:
    Search GeneIP for patents involving FAM134B

    GeneCards and IP:
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