Version 5.4
Homo sapiens Protein: FAM134B
Summary
InnateDB Protein IDBP-13313.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAM134B
Protein Name family with sequence similarity 134, member B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000304642
InnateDB Gene IDBG-13311 (FAM134B)
Protein Structure
UniProt Annotation
Function Required for long-term survival of nociceptive and autonomic ganglion neurons. {ECO:0000269PubMed:19838196}.
Subcellular Localization Golgi apparatus, cis-Golgi network membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Disease Associations 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:0000269PubMed:19838196}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0019233 sensory perception of pain
Cellular Component
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR003388 Reticulon
PFAM PF02453
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H6L5
PhosphoSite PhosphoSite-Q9H6L5
TrEMBL
UniProt Splice Variant
Entrez Gene 54463
UniGene Hs.481704
RefSeq NP_001030022
HUGO HGNC:25964
OMIM 613114
CCDS CCDS43304
HPRD 07879
IMGT
EMBL AK000159 AK024920 AK025808 AK025832 AL832438 BC030517 BC053326 BC073132
GenPept AAH30517 AAH53326 AAH73132 BAA90982 BAB15034 BAB15241 BAB15252 CAH10610

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca