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Aliases for FAM117B Gene

Aliases for FAM117B Gene

  • Family With Sequence Similarity 117, Member B 2 3
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 13 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 13 2 3
  • ALS2CR13 3 4

External Ids for FAM117B Gene

Previous HGNC Symbols for FAM117B Gene

  • ALS2CR13

Previous GeneCards Identifiers for FAM117B Gene

  • GC02P203209
  • GC02P203499
  • GC02P195346

Summaries for FAM117B Gene

GeneCards Summary for FAM117B Gene

FAM117B (Family With Sequence Similarity 117, Member B) is a Protein Coding gene. Diseases associated with FAM117B include amyotrophic lateral sclerosis 2, juvenile and lateral sclerosis. An important paralog of this gene is FAM117A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM117B Gene

Genomics for FAM117B Gene

Regulatory Elements for FAM117B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FAM117B Gene

202,635,178 bp from pter
202,769,757 bp from pter
134,580 bases
Plus strand

Genomic View for FAM117B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM117B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM117B Gene

Proteins for FAM117B Gene

  • Protein details for FAM117B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM117B
    Protein Accession:
    Secondary Accessions:
    • Q53QZ5
    • Q585T9
    • Q8N8W1
    • Q96Q34

    Protein attributes for FAM117B Gene

    589 amino acids
    Molecular mass:
    61968 Da
    Quaternary structure:
    No Data Available
    • ALS2CR13 is mapped in the genomic region covering the complete candidate region for Amyotrophic lateral sclerosis 2 (ALS2)
    • Sequence=AAI06907.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI06908.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAX76518.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB69023.1; Type=Frameshift; Positions=150; Evidence={ECO:0000305}; Sequence=BAB69023.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAC04700.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM117B Gene


neXtProt entry for FAM117B Gene

Proteomics data for FAM117B Gene at MOPED

Post-translational modifications for FAM117B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM117B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM117B Gene

Domains & Families for FAM117B Gene

Protein Domains for FAM117B Gene


Suggested Antigen Peptide Sequences for FAM117B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FAM117B: view

No data available for Gene Families and UniProtKB/Swiss-Prot for FAM117B Gene

Function for FAM117B Gene

Gene Ontology (GO) - Molecular Function for FAM117B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM117B: view
genes like me logo Genes that share phenotypes with FAM117B: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM117B

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM117B Gene

Localization for FAM117B Gene

Subcellular locations from

Jensen Localization Image for FAM117B Gene COMPARTMENTS Subcellular localization image for FAM117B gene
Compartment Confidence
cytoskeleton 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM117B Gene

Pathways & Interactions for FAM117B Gene

SuperPathways for FAM117B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM117B Gene


No data available for Pathways by source and SIGNOR curated interactions for FAM117B Gene

Drugs & Compounds for FAM117B Gene

No Compound Related Data Available

Transcripts for FAM117B Gene

mRNA/cDNA for FAM117B Gene

Unigene Clusters for FAM117B Gene

Family with sequence similarity 117, member B:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM117B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM117B Gene

No ASD Table

Relevant External Links for FAM117B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM117B Gene

mRNA expression in normal human tissues for FAM117B Gene

Protein differential expression in normal tissues from HIPED for FAM117B Gene

This gene is overexpressed in Pancreatic juice (33.2), Platelet (14.2), and Fetal Brain (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM117B Gene

SOURCE GeneReport for Unigene cluster for FAM117B Gene Hs.471130

genes like me logo Genes that share expression patterns with FAM117B: view

Protein tissue co-expression partners for FAM117B Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FAM117B Gene

Orthologs for FAM117B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM117B Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia FAM117B 35
  • 92.25 (n)
  • 96.35 (a)
FAM117B 36
  • 94 (a)
(Mus musculus)
Mammalia Fam117b 35
  • 86.81 (n)
  • 90.89 (a)
Fam117b 16
Fam117b 36
  • 86 (a)
(Pan troglodytes)
Mammalia FAM117B 35
  • 98.08 (n)
  • 97.77 (a)
FAM117B 36
  • 87 (a)
(Rattus norvegicus)
Mammalia Fam117b 35
  • 87.79 (n)
  • 94.59 (a)
(Bos Taurus)
Mammalia ALS2CR13 36
  • 98 (a)
(Monodelphis domestica)
Mammalia FAM117B 36
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia FAM117B 36
  • 85 (a)
(Gallus gallus)
Aves FAM117B 35
  • 81.44 (n)
  • 87.86 (a)
FAM117B 36
  • 78 (a)
(Anolis carolinensis)
Reptilia FAM117B 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam117b 35
  • 74.35 (n)
  • 79.89 (a)
Str.13346 35
(Danio rerio)
Actinopterygii si:dkey-56k23.2 35
  • 60.75 (n)
  • 59.96 (a)
FAM117B (1 of 2) 36
  • 48 (a)
FAM117B (2 of 2) 36
  • 63 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5186 36
  • 29 (a)
Species with no ortholog for FAM117B:
  • 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 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 FAM117B Gene

Gene Tree for FAM117B (if available)
Gene Tree for FAM117B (if available)

Paralogs for FAM117B Gene

Paralogs for FAM117B Gene

(2) SIMAP similar genes for FAM117B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM117B: view

Variants for FAM117B Gene

Sequence variations from dbSNP and Humsavar for FAM117B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs61255912 -- 202,668,205(+) ATATT(-/TTT)ATATA intron-variant
rs61414529 -- 202,651,932(+) CCTGT(A/G)ATCCC intron-variant
rs61427134 -- 202,700,713(+) ATGGA(A/G)TCTTG intron-variant
rs71425958 -- 202,730,736(+) AGCAC(A/C/T)ATATA intron-variant
rs72926994 -- 202,658,222(+) CCTTC(A/T)GCTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM117B Gene

Variant ID Type Subtype PubMed ID
nsv507064 CNV Insertion 20534489
nsv460019 CNV Gain 19166990
nsv3114 CNV Insertion 18451855
nsv460020 CNV Gain 19166990
nsv470510 CNV Gain 18288195
esv2579724 CNV Deletion 19546169

Variation tolerance for FAM117B Gene

Residual Variation Intolerance Score: 26.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM117B Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM117B Gene

Disorders for FAM117B Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM117B Gene - From: GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
lateral sclerosis
  • adult-onset primary lateral sclerosis
- elite association

Relevant External Links for FAM117B

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FAM117B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM117B Gene

Publications for FAM117B Gene

  1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 67
  5. Proteomic analysis of ubiquitin ligase KEAP1 reveals associated proteins that inhibit NRF2 ubiquitination. (PMID: 23382044) Hast B.E. … Major M.B. (Cancer Res. 2013) 67

Products for FAM117B Gene

Sources for FAM117B Gene

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