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Aliases for FAM117B Gene

Aliases for FAM117B Gene

  • Family With Sequence Similarity 117 Member B 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 13 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 13 2 3
  • Family With Sequence Similarity 117, Member B 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. 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

Promoters for FAM117B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM117B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM117B Gene

Chromosome:
2
Start:
202,635,178 bp from pter
End:
202,769,757 bp from pter
Size:
134,580 bases
Orientation:
Plus strand

Genomic View for FAM117B Gene

Genes around FAM117B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM117B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q6P1L5-F117B_HUMAN
    Recommended name:
    Protein FAM117B
    Protein Accession:
    Q6P1L5
    Secondary Accessions:
    • Q53QZ5
    • Q585T9
    • Q8N8W1
    • Q96Q34

    Protein attributes for FAM117B Gene

    Size:
    589 amino acids
    Molecular mass:
    61968 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • ALS2CR13 is mapped in the genomic region covering the complete candidate region for Amyotrophic lateral sclerosis 2 (ALS2).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

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

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

Animal Models for FAM117B Gene

MGI Knock Outs for FAM117B:

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM117B Gene

Localization for FAM117B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM117B Gene COMPARTMENTS Subcellular localization image for FAM117B gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 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

None

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:

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

No ASD Table

Relevant External Links for FAM117B Gene

GeneLoc Exon Structure for
FAM117B
ECgene alternative splicing isoforms for
FAM117B

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
dog
(Canis familiaris)
Mammalia FAM117B 35
  • 92.25 (n)
  • 96.35 (a)
FAM117B 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam117b 35
  • 86.81 (n)
  • 90.89 (a)
Fam117b 16
Fam117b 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM117B 35
  • 98.08 (n)
  • 97.77 (a)
FAM117B 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam117b 35
  • 87.79 (n)
  • 94.59 (a)
cow
(Bos Taurus)
Mammalia ALS2CR13 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM117B 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM117B 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM117B 35
  • 81.44 (n)
  • 87.86 (a)
FAM117B 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM117B 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam117b 35
  • 74.35 (n)
  • 79.89 (a)
Str.13346 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-56k23.2 35
  • 60.75 (n)
  • 59.96 (a)
FAM117B (1 of 2) 36
  • 48 (a)
OneToMany
FAM117B (2 of 2) 36
  • 63 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5186 36
  • 29 (a)
OneToMany
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

ENSEMBL:
Gene Tree for FAM117B (if available)
TreeFam:
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
rs933969 -- 202,634,997(+) GGAGC(A/G)GCGGC upstream-variant-2KB
rs1199365 -- 202,745,190(-) agatt(C/T)tcatg intron-variant
rs1039967 -- 202,691,698(+) gtgtg(C/T)gCGCG intron-variant
rs1039968 -- 202,692,428(+) gactt(C/T)acagg intron-variant
rs1966557 -- 202,665,815(-) GAGAC(C/T)GGCCT 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: 26.8% 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
FAM117B

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

Disorders for FAM117B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM117B

Genetic Association Database (GAD)
FAM117B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM117B
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 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  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) 3

Products for FAM117B Gene

Sources for FAM117B Gene

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