Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

FAM134B Gene

protein-coding   GIFtS: 47
GCID: GC05M016473

family with sequence similarity 134, member B

 Explore 14 diseases affiliated with
FAM134B via our new
 Human Malady Compendium 
Biological research products
for FAM134B
    

(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 134, Member B1 2
FLJ201521
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FAM134B:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FAM134B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: F134B_HUMAN, Q9H6L5 (See protein sequence)
Recommended Name: Protein FAM134B  
Size: 497 amino acids; 54681 Da
Subcellular location: Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H6L5

  • FAM134B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000425089   ENSP00000382691   ENSP00000304642  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: FAM134B
    OriGene Protein Over-expression Lysate: FAM134B
    OriGene Custom Protein Services for FAM134B 
    GenScript Custom Purified and Recombinant Proteins Services for FAM134B
    Novus Biologicals FAM134B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FAM134B

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005801cis-Golgi network ISS--
    GO:0016021integral to membrane IEA--


    FAM134B for ontologies           About GeneDecksing



    FAM134B Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FAM134B 
    GenScript Custom Superior Antibodies Services for FAM134B
    Novus Biologicals FAM134B Antibodies
    Abcam antibodies for FAM134B 
    Uscn Antibodies for FAM134B
    Search ThermoFisher Antibodies for FAM134B

    Assay Products for FAM134B: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FAM134B
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FAM134B


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

    FAM134B for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (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: F134B_HUMAN, Q9H6L5
    Function: Required for long-term survival of nociceptive and autonomic ganglion neurons

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): FAM134B
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM134B
    8/35 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM134B (see all 4)
    OriGene shRNA RFP: FAM134B
    OriGene siRNA: FAM134B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM134B

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FAM134B

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM134B (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM134B (see all 4)
    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)
    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 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FAM134B
    Search LifeMap BioReagents cell lines for FAM134B

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM134B

    1 GenomeRNAi human phenotype for FAM134B:
     Low eccentricity cells 


    (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 FAM134B

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

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


    FAM134B 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 FAM134B
    Search CenterWatch for drugs/clinical trials and news about FAM134B / F134B 

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

    Unigene Cluster for FAM134B:

    Family with sequence similarity 134, member B
    Hs.744032  [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:
         
    OriGene 3'-UTR Clone (see all 2): FAM134B
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM134B
    8/35 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM134B (see all 4)
    OriGene shRNA RFP: FAM134B
    OriGene siRNA: FAM134B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM134B
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM134B (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM134B (see all 4)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for FAM134B
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAM134B
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM134B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM134B

    Additional cDNA 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.120877667  DT.85101065  DT.97804173 

    24/217 AceView cDNA sequences (see all 217):

    AA232734 AA745721 AA773610 AW304670 CK822590 AI241362 BM505308 BE463401 
    AI522110 AL832438 BQ184223 AK024920 BU737867 BM929418 BU679367 NM_019000 
    BI467258 AV652599 AI816890 BU071262 AW960770 BQ018065 BC053326 AI470875 

    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

    FAM134B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTGTGTTTG

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

    About this image

    FAM134B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM134B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM134B

    SOURCE GeneReport for Unigene cluster: Hs.744032
        SABiosciences Custom PCR Arrays for FAM134B
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM134B
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAM134B
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM134B
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FAM134B gene from 4/11 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 87.85(n)1
    90.42(a)1
      15 (9.59 cM)5
    662701  NM_001034851.11  NP_001030023.11 
     258432645 
    chicken
    (Gallus gallus)
    Aves LOC1008597981 protein FAM134B-like 74.46(n)
    68.83(a)
      100859798  XM_003640778.1  XP_003640826.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM134B6
    --
    65(a)
    1 ↔ 1
    4(60212589-60228075)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000035241 protein FAM134B-like 57.13(n)
    49.11(a)
      100003524  XM_001343026.2  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)
    About This Section
    Paralogs for FAM134B gene
    FAM134C2  FAM134A2  
    1 SIMAP similar gene for FAM134B using alignment to 2 protein entries:     F134B_HUMAN (see all proteins):
    FAM134C

    FAM134B 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

    10/2559 NCBI SNPs in FAM134B are shown (see all 2559    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,F,non-pathogenic16475199(+) GACCAC/GTGTCC 4 T S mis14Minor allele frequency- G:0.06NS CSA WA EU 1517
    rs344325131,2
    C,F,non-pathogenic16475209(-) AGGAAC/GAGTTG 4 Q E mis13Minor allele frequency- G:0.07NA WA 194
    rs1378527391,2
    Cpathogenic16477845(-) CGTCTC/GAGAGG 4 S * stg10--------
    rs1378527371,2
    Cpathogenic16565897(-) GTGCAC/TAGTTG 2 Q * stg10--------
    rs1378866551,2
    C,--16472665(+) AGTGA-/CCCCCC 2 -- ds50010--------
    rs1930996961,2
    --16472673(+) CCCCAA/CCACCA 2 -- ds50010--------
    rs2014033781,2
    --16472687(+) CACAC-/ATATACA 2 -- ds50010--------
    rs260151,2
    C,F,A,H,--16472705(-) TTGAAG/AGTTCT 2 -- ds500136Minor allele frequency- A:0.25EA NA NS WA CSA 3410
    rs105208411,2
    C,F,H,--16472881(+) ATTTTT/CCTACC 2 -- ds500197Minor allele frequency- C:0.02NS NA EA WA PA EU CA CSA 5968
    rs773497591,2
    F,--16472904(+) TCCCAT/CCCTCA 2 -- ds50011Minor allele frequency- C:0.04NA 120

    HapMap Linkage Disequilibrium report for FAM134B (16473147 - 16617167 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM134B
         1 Indel: 46802
    Human Gene Mutation Database (HGMD): FAM134B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    FAM134B for disorders           About GeneDecksing

    OMIM gene information: 613114   
    OMIM disorders: 613115  
    UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5
  • Defects in FAM134B are the cause of hereditary sensory and autonomic neuropathy type 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

    14 diseases for FAM134B:    About MalaCards
    autonomic neuropathy    vascular dementia    hereditary sensory and autonomic neuropathy type iib    hereditary sensory and autonomic neuropathy type ii
    neuropathy    dementia    hereditary sensory neuropathy    autonomic dysfunction
    esophageal squamous cell carcinoma    squamous cell carcinoma    neuronitis    osteomyelitis
    esophagitis    carcinoma

    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)
    About This Section

    PubMed articles for FAM134B gene, integrated from 9 sources (see all 15):
    (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. (2009)
    2. Mutation in FAM134B causing severe hereditary sensory neuropathy. (PubMed id 21115472)1 Murphy S.M....Reilly M.M. (2012)
    3. 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. (2012)
    4. 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)
    5. A strong synergistic epistasis between FAM134B and TN FRSF19 on the susceptibility to vascular dementia. (PubMed id 21127458)1 Kong M....Lee C. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. 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. (2007)
    8. 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)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. 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)

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

    (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 FAM134B 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 FAM134B gene:
    Search GeneIP for patents involving FAM134B

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for FAM134B  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM134B   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM134B  
     OriGene Protein Over-expression Lysate for FAM134B   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for FAM134B   OriGene 3'-UTR Clone for FAM134B  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM134B   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM134B  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for FAM134B   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FAM134B   OriGene Custom Protein Services for FAM134B  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAM134B
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM134B
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM134B
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM134B
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM134B
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM134B
     GenScript Custom Purified and Recombinant Proteins Services for FAM134B GenScript cDNA clones with any tag delivered in your preferred vector for FAM134B
     GenScript Custom Assay Services for FAM134B GenScript Custom Superior Antibodies Services for FAM134B
     GenScript Custom overexpressing Cell Line Services for FAM134B CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in FAM134B promoter
     Search Chromatin IP Primers for FAM134B
     RT2 qPCR Primer Assay in human, mouse, rat FAM134B
     Search GNC Networks for FAM134B
     SABiosciences Custom PCR Arrays for FAM134B
     Search Tocris compounds for FAM134B
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FAM134B antibodies
     FAM134B lysates
     Antibodies for FAM134B
     See all of Abcam's Antibodies, Kits and Proteins for FAM134B
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     FAM134B Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for FAM134B
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM134B
     SwitchGear 3'UTR luciferase reporter plasmids for FAM134B
     SwitchGear Promoter luciferase reporter plasmids for FAM134B
     Search ThermoFisher Antibodies for FAM134B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM134B
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FAM134B gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4