Aliases for FAM131C Gene

Aliases for FAM131C Gene

  • Family With Sequence Similarity 131 Member C 2 3 5
  • Protein FAM131C 3 4
  • C1orf117 3 4
  • Family With Sequence Similarity 131, Member C 2
  • Chromosome 1 Open Reading Frame 117 2
  • FLJ36766 2
  • FAM131C 5

External Ids for FAM131C Gene

Previous HGNC Symbols for FAM131C Gene

  • C1orf117

Previous GeneCards Identifiers for FAM131C Gene

  • GC01M016258
  • GC01M016384
  • GC01M014902

Summaries for FAM131C Gene

GeneCards Summary for FAM131C Gene

FAM131C (Family With Sequence Similarity 131 Member C) is a Protein Coding gene. Diseases associated with FAM131C include Cataract 6, Multiple Types. An important paralog of this gene is FAM131A.

Additional gene information for FAM131C 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 FAM131C Gene

Genomics for FAM131C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM131C 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 FAM131C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM131C

Top Transcription factor binding sites by QIAGEN in the FAM131C gene promoter:
  • AREB6
  • Brachyury
  • CREB
  • deltaCREB
  • E47
  • FOXI1
  • HFH-3
  • LCR-F1
  • POU2F1
  • POU2F1a

Genomic Locations for FAM131C Gene

Genomic Locations for FAM131C Gene
chr1:16,057,769-16,073,651
(GRCh38/hg38)
Size:
15,883 bases
Orientation:
Minus strand
chr1:16,384,264-16,400,127
(GRCh37/hg19)
Size:
15,864 bases
Orientation:
Minus strand

Genomic View for FAM131C Gene

Genes around FAM131C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM131C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM131C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM131C Gene

Proteins for FAM131C Gene

  • Protein details for FAM131C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AQ9-F131C_HUMAN
    Recommended name:
    Protein FAM131C
    Protein Accession:
    Q96AQ9
    Secondary Accessions:
    • Q5T5Q5
    • Q8N3X3
    • Q8N9P9

    Protein attributes for FAM131C Gene

    Size:
    280 amino acids
    Molecular mass:
    30351 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM131C Gene

Post-translational modifications for FAM131C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM131C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM131C Gene

Domains & Families for FAM131C Gene

Gene Families for FAM131C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM131C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM131C Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM131C (F131C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96AQ9

UniProtKB/Swiss-Prot:

F131C_HUMAN :
  • Belongs to the FAM131 family.
Family:
  • Belongs to the FAM131 family.
genes like me logo Genes that share domains with FAM131C: view

Function for FAM131C Gene

Phenotypes From GWAS Catalog for FAM131C Gene

Gene Ontology (GO) - Molecular Function for FAM131C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with FAM131C: view
genes like me logo Genes that share phenotypes with FAM131C: view

Animal Model Products

CRISPR Products

miRNA for FAM131C Gene

miRTarBase miRNAs that target FAM131C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM131C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM131C Gene

Localization for FAM131C 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 FAM131C gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
  • Nucleoli (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM131C Gene

Pathways & Interactions for FAM131C Gene

PathCards logo

SuperPathways for FAM131C Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM131C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM131C Gene

Drugs & Compounds for FAM131C Gene

No Compound Related Data Available

Transcripts for FAM131C Gene

mRNA/cDNA for FAM131C Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM131C

Alternative Splicing Database (ASD) splice patterns (SP) for FAM131C Gene

No ASD Table

Relevant External Links for FAM131C Gene

GeneLoc Exon Structure for
FAM131C

Expression for FAM131C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM131C Gene

mRNA differential expression in normal tissues according to GTEx for FAM131C Gene

This gene is overexpressed in Brain - Cerebellum (x10.5), Brain - Cerebellar Hemisphere (x9.7), and Brain - Spinal cord (cervical c-1) (x5.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM131C

SOURCE GeneReport for Unigene cluster for FAM131C Gene:

Hs.126825
genes like me logo Genes that share expression patterns with FAM131C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM131C Gene

Orthologs for FAM131C Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM131C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM131C 30 31
  • 98.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM131C 30 31
  • 86.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM131C 30 31
  • 83.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam131c 30
  • 82.26 (n)
Mouse
(Mus musculus)
Mammalia Fam131c 30 17 31
  • 81.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM131C 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM131C 31
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM131C 31
  • 49 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii fam131c 30 31
  • 57.76 (n)
OneToOne
Species where no ortholog for FAM131C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FAM131C Gene

ENSEMBL:
Gene Tree for FAM131C (if available)
TreeFam:
Gene Tree for FAM131C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM131C: view image

Paralogs for FAM131C Gene

Paralogs for FAM131C Gene

Pseudogenes.org Pseudogenes for FAM131C Gene

genes like me logo Genes that share paralogs with FAM131C: view

Variants for FAM131C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM131C Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11576236 - p.Pro123Arg
rs17853749 - p.Glu226Asp
rs1832151 - p.Ser215Ile
rs2863458 - p.Lys48Glu
rs71510977 - p.Arg107Gln

Additional dbSNP identifiers (rs#s) for FAM131C Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM131C Gene

Variant ID Type Subtype PubMed ID
dgv155n54 CNV gain 21841781
dgv157n54 CNV gain 21841781
dgv1e19 CNV loss 19470904
dgv20e199 CNV deletion 23128226
dgv9e201 CNV deletion 23290073
esv2434454 CNV deletion 19546169
esv25815 CNV gain 19812545
esv2672024 CNV deletion 23128226
esv2744386 CNV deletion 23290073
esv2760188 CNV gain+loss 21179565
esv32650 CNV gain 17666407
esv3448687 CNV duplication 20981092
esv6377 CNV loss 19470904
esv995840 CNV deletion 20482838
nsv1075223 CNV deletion 25765185
nsv1114931 CNV deletion 24896259
nsv1116588 CNV tandem duplication 24896259
nsv1118430 CNV duplication 24896259
nsv1161228 CNV duplication 26073780
nsv436443 CNV deletion 17901297
nsv470698 CNV loss 18288195
nsv508936 CNV insertion 20534489
nsv520148 CNV loss 19592680
nsv524045 CNV loss 19592680
nsv545634 CNV gain 21841781
nsv545640 CNV gain 21841781
nsv829570 CNV gain 20364138
nsv833758 CNV gain+loss 17160897
nsv954844 CNV deletion 24416366
nsv997887 CNV gain 25217958

Variation tolerance for FAM131C Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.23; 98.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM131C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM131C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM131C Gene

Disorders for FAM131C Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM131C Gene - From: DISEASES

Disorder Aliases PubMed IDs
cataract 6, multiple types
  • ctrct6
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM131C

genes like me logo Genes that share disorders with FAM131C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM131C Gene

Publications for FAM131C Gene

  1. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 41
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3

Products for FAM131C Gene

Sources for FAM131C Gene