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Aliases for FAM134B Gene

Aliases for FAM134B Gene

  • Family With Sequence Similarity 134, Member B 2 3
  • Protein FAM134B 3
  • HSAN2B 6
  • JK-1 3
  • JK1 3

External Ids for FAM134B Gene

Summaries for FAM134B Gene

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 vascular dementia and neuropathy, hereditary sensory and autonomic, type iib. An important paralog of this gene is FAM134A.

UniProtKB/Swiss-Prot for FAM134B Gene

  • Required for long-term survival of nociceptive and autonomic ganglion neurons.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM134B Gene

Genomics for FAM134B Gene

Genomic Location for FAM134B Gene

Start:
16,472,813 bp from pter
End:
16,617,058 bp from pter
Size:
144,246 bases
Orientation:
Minus strand

Genomic View for FAM134B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM134B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM134B Gene

Regulatory Elements for FAM134B Gene

Proteins for FAM134B Gene

  • Protein details for FAM134B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6L5-F134B_HUMAN
    Recommended name:
    Protein FAM134B
    Protein Accession:
    Q9H6L5
    Secondary Accessions:
    • Q69YN8
    • Q9H6K6
    • Q9H764
    • Q9NXM8

    Protein attributes for FAM134B Gene

    Size:
    497 amino acids
    Molecular mass:
    54681 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH30517.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA90982.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15252.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM134B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM134B Gene

Proteomics data for FAM134B Gene at MOPED

Post-translational modifications for FAM134B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys160

Other Protein References for FAM134B Gene

No data available for DME Specific Peptides for FAM134B Gene

Domains for FAM134B Gene

Protein Domains for FAM134B Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

F134B_HUMAN
Family:
  • Belongs to the FAM134 family.:
    • Q9H6L5
genes like me logo Genes that share domains with FAM134B: view

No data available for Gene Families for FAM134B Gene

Function for FAM134B Gene

Molecular function for FAM134B Gene

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

Phenotypes for FAM134B Gene

GenomeRNAi human phenotypes for FAM134B:
genes like me logo Genes that share phenotypes with FAM134B: view

miRNA for FAM134B Gene

miRTarBase miRNAs that target FAM134B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for FAM134B Gene

Localization for FAM134B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM134B Gene

Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM134B Gene COMPARTMENTS Subcellular localization image for FAM134B gene
Compartment Confidence
golgi apparatus 3
plasma membrane 3
endoplasmic reticulum 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAM134B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005801 cis-Golgi network ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM134B: view

Pathways for FAM134B Gene

SuperPathways for FAM134B Gene

No Data Available

Interacting Proteins for FAM134B Gene

Gene Ontology (GO) - Biological Process for FAM134B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019233 sensory perception of pain IMP 19838196
genes like me logo Genes that share ontologies with FAM134B: view

No data available for Pathways by source for FAM134B Gene

Transcripts for FAM134B Gene

Unigene Clusters for FAM134B Gene

Family with sequence similarity 134, member B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM134B Gene

No ASD Table

Relevant External Links for FAM134B Gene

GeneLoc Exon Structure for
FAM134B
ECgene alternative splicing isoforms for
FAM134B

Expression for FAM134B Gene

mRNA expression in normal human tissues for FAM134B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM134B Gene

This gene is overexpressed in Muscle - Skeletal (11.0) and Heart - Left Ventricle (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FAM134B Gene

SOURCE GeneReport for Unigene cluster for FAM134B Gene Hs.481704

genes like me logo Genes that share expressions with FAM134B: view

Orthologs for FAM134B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM134B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM134B 36
  • 99.66 (n)
  • 99.8 (a)
FAM134B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM134B 36
  • 90.17 (n)
  • 92.49 (a)
FAM134B 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM134B 36
  • 91.52 (n)
  • 92.77 (a)
FAM134B 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam134b 36
  • 86.39 (n)
  • 88.33 (a)
Fam134b 16
Fam134b 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM134B 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM134B 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam134b 36
  • 87.92 (n)
  • 89.37 (a)
chicken
(Gallus gallus)
Aves FAM134B 37
  • 58 (a)
OneToOne
LOC100859798 36
  • 75.8 (n)
  • 71.19 (a)
lizard
(Anolis carolinensis)
Reptilia FAM134B 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam134b 36
  • 66.67 (n)
  • 58.46 (a)
zebrafish
(Danio rerio)
Actinopterygii BX323064.1 37
  • 41 (a)
OneToOne
LOC100003524 36
  • 57.61 (n)
  • 50.25 (a)
Species with no ortholog for FAM134B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM134B Gene

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

Paralogs for FAM134B Gene

Paralogs for FAM134B Gene

Selected SIMAP similar genes for FAM134B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FAM134B: view

Variants for FAM134B Gene

Sequence variations from dbSNP and Humsavar for FAM134B Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs25865 -- 16,596,157(+) TCATA(C/T)GGATG intron-variant
rs26015 -- 16,472,596(-) TTGAA(A/G)GTTCT downstream-variant-500B
rs26016 -- 16,473,729(+) AGATT(C/T)CATAT utr-variant-3-prime
rs26379 -- 16,486,162(-) TTTCA(A/G)GTTGT intron-variant
rs26380 -- 16,484,019(-) AATAT(C/T)GTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM134B Gene

Variant ID Type Subtype PubMed ID
nsv881187 CNV Gain 21882294
esv275370 CNV Loss 21479260
dgv982e201 CNV Deletion 23290073
esv2729832 CNV Deletion 23290073
esv1983383 CNV Deletion 18987734
esv2729834 CNV Deletion 23290073
esv1003044 CNV Insertion 20482838
esv2729835 CNV Deletion 23290073
esv1371607 CNV Insertion 17803354
esv2729836 CNV Deletion 23290073
esv2664300 CNV Deletion 23128226
esv2670384 CNV Deletion 23128226

Relevant External Links for FAM134B Gene

HapMap Linkage Disequilibrium report
FAM134B
Human Gene Mutation Database (HGMD)
FAM134B

Disorders for FAM134B Gene

(1) OMIM Diseases for FAM134B Gene (613114)

UniProtKB/Swiss-Prot

F134B_HUMAN
  • 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. {ECO:0000269 PubMed:19838196}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM134B

Genetic Association Database (GAD)
FAM134B
Human Genome Epidemiology (HuGE) Navigator
FAM134B
genes like me logo Genes that share disorders with FAM134B: view

Publications for FAM134B Gene

  1. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. (PMID: 19838196) Kurth I. … Huebner C.A. (Nat. Genet. 2009) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  3. Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. (PMID: 24327336) Aydinlar E.I. … Parman Y. (Muscle Nerve 2013) 2 3
  4. JK1 (FAM134B) gene and colorectal cancer: a pilot study on the gene copy number alterations and correlations with clinicopathological parameters. (PMID: 24825067) Kasem K. … Lam A.K. (Exp. Mol. Pathol. 2014) 3
  5. JK1 (FAM134B) represses cell migration in colon cancer: a functional study of a novel gene. (PMID: 24927874) Kasem K. … Lam A.K. (Exp. Mol. Pathol. 2014) 3

Products for FAM134B Gene

  • antibodies-online peptides for FAM134B
  • antibodies-online antibodies for FAM134B
  • antibodies-online kits for FAM134B

Sources for FAM134B Gene

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