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Aliases for FAM134B Gene

Aliases for FAM134B Gene

  • Family With Sequence Similarity 134 Member B 2 3 5
  • Family With Sequence Similarity 134, Member B 2 3
  • Protein FAM134B 3
  • JK-1 3
  • JK1 3

External Ids for FAM134B Gene

Previous GeneCards Identifiers for FAM134B Gene

  • GC05M016527

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

UniProtKB/Swiss-Prot for FAM134B Gene

  • Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720).

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

Regulatory Elements for FAM134B Gene

Enhancers for FAM134B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAM134B on UCSC Golden Path with GeneCards custom track

Promoters for FAM134B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM134B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM134B Gene

Chromosome:
5
Start:
16,472,816 bp from pter
End:
16,617,058 bp from pter
Size:
144,243 bases
Orientation:
Minus strand

Genomic View for FAM134B Gene

Genes around FAM134B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM134B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM134B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM134B Gene

Proteins for FAM134B Gene

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

    Protein Symbol:
    Q9H6L5-F134B_HUMAN
    Recommended name:
    Reticulophagy receptor 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:
    • Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, GABARAP, GABARAPL1 and GABARAPL2.
    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

  • Ubiquitination at Lys 160
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM134B Gene

Antibody Products

No data available for DME Specific Peptides for FAM134B Gene

Domains & Families for FAM134B Gene

Protein Domains for FAM134B Gene

ProtoNet:

Suggested Antigen Peptide Sequences for FAM134B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H6L5

UniProtKB/Swiss-Prot:

F134B_HUMAN :
  • The LIR motif interacts with ATG8 family proteins and is necessary to target the ER fragments to autophagosomes for subsequent lysosomal degradation.
  • Belongs to the FAM134 family.
Domain:
  • The LIR motif interacts with ATG8 family proteins and is necessary to target the ER fragments to autophagosomes for subsequent lysosomal degradation.
  • The reticulon domain provides capacity to bend the membrane and promotes ER scission.
  • Contains 1 reticulon domain.
Family:
  • Belongs to the FAM134 family.
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:
Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720).
genes like me logo Genes that share phenotypes with FAM134B: view

Human Phenotype Ontology for FAM134B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

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 Targets 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. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM134B Gene COMPARTMENTS Subcellular localization image for FAM134B gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
plasma membrane 3
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAM134B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane IDA 26040720
genes like me logo Genes that share ontologies with FAM134B: view

Pathways & Interactions 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 and SIGNOR curated interactions for FAM134B Gene

Drugs & Compounds for FAM134B Gene

No Compound Related Data Available

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 (x11.0) and Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for FAM134B Gene

This gene is overexpressed in Islet of Langerhans (33.5), Frontal cortex (14.3), and Fetal Brain (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FAM134B: view

Protein tissue co-expression partners for FAM134B Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for FAM134B Gene

Orthologs for FAM134B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM134B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM134B 35
  • 90.17 (n)
  • 92.49 (a)
FAM134B 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM134B 35
  • 91.52 (n)
  • 92.77 (a)
FAM134B 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam134b 35
  • 86.39 (n)
  • 88.33 (a)
Fam134b 16
Fam134b 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM134B 35
  • 99.66 (n)
  • 99.8 (a)
FAM134B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam134b 35
  • 87.92 (n)
  • 89.37 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM134B 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM134B 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859798 35
  • 75.8 (n)
  • 71.19 (a)
FAM134B 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM134B 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam134b 35
  • 66.67 (n)
  • 58.46 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100003524 35
  • 57.61 (n)
  • 50.25 (a)
BX323064.1 36
  • 41 (a)
OneToOne
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

(2) 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
rs34432513 - 16,475,100(-) AGGAA(C/G)AGTTG reference, missense
VAR_068477 -
rs767456 -- 16,539,495(+) GAGCC(A/G)GGAGA intron-variant
rs768294 -- 16,550,616(-) GGGAA(A/G)AAGCA intron-variant
rs25865 -- 16,596,157(+) TCATA(C/T)GGATG 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

Variation tolerance for FAM134B Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM134B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM134B Gene

Disorders for FAM134B Gene

MalaCards: The human disease database

(8) MalaCards diseases for FAM134B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type iib
  • hereditary sensory and autonomic neuropathy type iib
neuropathy, hereditary sensory and autonomic, type ii
  • neuropathy, hereditary sensory and autonomic, type iib
autonomic neuropathy
vascular dementia
  • multi infarct dementia
autonomic dysfunction
  • autonomic disorder
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM134B
genes like me logo Genes that share disorders with FAM134B: view

No data available for Genatlas for FAM134B Gene

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 67
  2. 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
  3. Regulation of endoplasmic reticulum turnover by selective autophagy. (PMID: 26040720) Khaminets A. … Dikic I. (Nature 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for FAM134B Gene

Sources for FAM134B Gene

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