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
  • Protein FAM117B 3 4
  • ALS2CR13 3 4
  • Family With Sequence Similarity 117, Member B 2

External Ids for FAM117B Gene

Previous HGNC Symbols for FAM117B Gene

  • ALS2CR13

Previous GeneCards Identifiers for FAM117B Gene

  • GC02P203209
  • GC02P203499
  • GC02P195346
  • GC02P202636
  • GC02P202706
  • GC02P202718
  • GC02P202728
  • GC02P202638
  • GC02P202650
  • GC02P202661
  • GC02P202669
  • GC02P202679
  • GC02P202687
  • GC02P202697

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 GLCCI1.

Additional gene information for FAM117B Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM117B Gene

Genomics for FAM117B Gene

GeneHancer (GH) Regulatory Elements for FAM117B Gene

Promoters and enhancers for FAM117B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM117B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM117B

Top Transcription factor binding sites by QIAGEN in the FAM117B gene promoter:
  • En-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • MAZR
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • SRF (504 AA)

Genomic Locations for FAM117B Gene

Genomic Locations for FAM117B Gene
chr2:202,634,969-202,769,757
(GRCh38/hg38)
Size:
134,789 bases
Orientation:
Plus strand
chr2:203,499,901-203,634,480
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI06908.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAX76518.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB69023.1; Type=Frameshift; 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM117B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM117B Gene

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

Gene Families for FAM117B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM117B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM117B Gene

GenScript: Design optimal peptide antigens:
  • Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein (F117B_HUMAN)
genes like me logo Genes that share domains with FAM117B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FAM117B Gene

Function for FAM117B Gene

Phenotypes From GWAS Catalog 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 Models for FAM117B Gene

MGI Knock Outs for FAM117B:
  • Fam117b Fam117b<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for FAM117B Gene

miRTarBase miRNAs that target FAM117B

Clone Products

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

Localization for FAM117B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM117B gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

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

Pathways & Interactions for FAM117B Gene

PathCards logo

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

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for FAM117B Gene

GeneLoc Exon Structure for
FAM117B

Expression for FAM117B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FAM117B Gene



Protein tissue co-expression partners for FAM117B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM117B

SOURCE GeneReport for Unigene cluster for FAM117B Gene:

Hs.471130
genes like me logo Genes that share expression patterns with FAM117B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia FAM117B 31 30
  • 98.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALS2CR13 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM117B 31 30
  • 92.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam117b 30
  • 87.79 (n)
mouse
(Mus musculus)
Mammalia Fam117b 17 31 30
  • 86.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM117B 31
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM117B 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM117B 31 30
  • 81.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM117B 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam117b 30
  • 74.35 (n)
Str.13346 30
zebrafish
(Danio rerio)
Actinopterygii FAM117B (2 of 2) 31
  • 63 (a)
OneToMany
si:dkey-56k23.2 30
  • 60.75 (n)
FAM117B (1 of 2) 31
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5186 31
  • 29 (a)
OneToMany
Species where no ortholog for FAM117B was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM117B: view image

Paralogs for FAM117B Gene

Paralogs for FAM117B Gene

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

  • F117B_HUMAN
genes like me logo Genes that share paralogs with FAM117B: view

Variants for FAM117B Gene

Additional dbSNP identifiers (rs#s) for FAM117B Gene

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

Variant ID Type Subtype PubMed ID
dgv7253n54 CNV gain 21841781
esv2579724 CNV deletion 19546169
esv3594002 CNV loss 21293372
nsv1072061 CNV deletion 25765185
nsv3114 CNV insertion 18451855
nsv460019 CNV gain 19166990
nsv460020 CNV gain 19166990
nsv470510 CNV gain 18288195
nsv507064 OTHER sequence alteration 20534489
nsv584179 CNV loss 21841781
nsv584182 CNV gain 21841781

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)

Additional Variant Information for FAM117B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM117B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM117B Gene

Disorders for FAM117B Gene

MalaCards: The human disease database

(4) MalaCards diseases for FAM117B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
lateral sclerosis
  • adult-onset primary lateral sclerosis
mast syndrome
  • spastic paraplegia 21, autosomal recessive; spg21
arteriolosclerosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 JE (Nature genetics 2001) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54

Products for FAM117B Gene

Sources for FAM117B Gene