Free for academic non-profit institutions. Other users need a Commercial license

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

External Ids for FAM117B Gene

Previous HGNC Symbols for FAM117B Gene

  • ALS2CR13

Previous GeneCards Identifiers for FAM117B Gene

  • GC02P203209
  • GC02P203499
  • GC02P195346
  • GC02P202636
  • GC02P202638
  • GC02P202650
  • GC02P202661
  • GC02P202669
  • GC02P202679

Summaries for FAM117B Gene

GeneCards Summary for FAM117B Gene

FAM117B (Family With Sequence Similarity 117 Member B) is a Protein Coding gene. 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM117B Gene

Genomics for FAM117B Gene

GeneHancer (GH) Regulatory Elements for FAM117B Gene

Promoters and enhancers for FAM117B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J202632 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 666.5 +0.2 221 6.3 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 FAM117B RAPH1 ENSG00000273209 TMEM237 CARF DAZAP2P1 GC02P202693 GC02M202548
GH02J202664 Enhancer 1.1 Ensembl ENCODE dbSUPER 27.4 +30.9 30906 2.4 BMI1 KLF5 FOXK2 NFATC1 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 SMARCA5 FAM117B ICA1L LOC442063 GC02P202693 GC02M202548
GH02J202236 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.7 -397.0 -396992 2.9 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A ZNF2 SLC30A9 POLR2B E2F8 GC02P202236 LOC100287425 SUMO1 LOC100420110 FAM117B NOP58 ENSG00000273456 RPL39P14
GH02J202373 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 8.1 -258.5 -258488 6.8 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SP3 ENSG00000273456 BMPR2 GC02M202375 PIR36599 FAM117B LOC442063 GC02P202390
GH02J202264 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.4 -368.9 -368872 3.9 HDGF HNRNPUL1 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 NOP58 LOC100420110 NBEAL1 RPL12P16 CYP20A1 ENSG00000273456 FAM117B PIR47513 GC02P202236
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM117B on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FAM117B Gene

Genomic Locations for FAM117B Gene
chr2:202,635,178-202,769,757
(GRCh38/hg38)
Size:
134,580 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=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

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

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 3
cytoskeleton 2
cytosol 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for FAM117B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with FAM117B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(65) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM117B Gene

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

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
ECgene alternative splicing isoforms for
FAM117B

Expression for FAM117B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of FAM117B Gene:

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 34 33
  • 98.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALS2CR13 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM117B 34 33
  • 92.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam117b 33
  • 87.79 (n)
mouse
(Mus musculus)
Mammalia Fam117b 16 34 33
  • 86.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM117B 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM117B 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM117B 34 33
  • 81.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM117B 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam117b 33
  • 74.35 (n)
Str.13346 33
zebrafish
(Danio rerio)
Actinopterygii FAM117B (2 of 2) 34
  • 63 (a)
OneToMany
si:dkey-56k23.2 33
  • 60.75 (n)
FAM117B (1 of 2) 34
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5186 34
  • 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

Sequence variations from dbSNP and Humsavar for FAM117B Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000003098 -- 202,705,311(+) AAAAAAAAAA/AAAAAAAAA intron_variant
rs1000044919 -- 202,737,861(+) C/A/T intron_variant
rs1000063948 -- 202,732,050(+) T/A/C intron_variant
rs1000071354 -- 202,661,145(+) G/C intron_variant
rs1000078355 -- 202,658,127(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv584182 CNV gain 21841781
nsv584179 CNV loss 21841781
nsv507064 OTHER sequence alteration 20534489
nsv470510 CNV gain 18288195
nsv460020 CNV gain 19166990
nsv460019 CNV gain 19166990
nsv3114 CNV insertion 18451855
nsv1072061 CNV deletion 25765185
esv3594002 CNV loss 21293372
esv2579724 CNV deletion 19546169
dgv7253n54 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 for FAM117B Gene

Disorders for FAM117B Gene

Additional Disease Information for FAM117B

No disorders were found for FAM117B Gene.

No data available for MalaCards , 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58

Products for FAM117B Gene

Sources for FAM117B Gene

Content
Loading form....