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Aliases for FAM118A Gene

Aliases for FAM118A Gene

  • Family With Sequence Similarity 118 Member A 2 3 5
  • C22orf8 3 4
  • Family With Sequence Similarity 118, Member A 2
  • Chromosome 22 Open Reading Frame 8 2
  • Protein FAM118A 3
  • BK268H5.C22.4 3

External Ids for FAM118A Gene

Previous HGNC Symbols for FAM118A Gene

  • C22orf8

Previous GeneCards Identifiers for FAM118A Gene

  • GC22P044083
  • GC22P045704
  • GC22P028649

Summaries for FAM118A Gene

GeneCards Summary for FAM118A Gene

FAM118A (Family With Sequence Similarity 118 Member A) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is FAM118B.

Additional gene information for FAM118A 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 FAM118A Gene

Genomics for FAM118A Gene

GeneHancer (GH) Regulatory Elements for FAM118A Gene

Promoters and enhancers for FAM118A 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
GH22I045308 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 629.1 +1.1 1070 3.1 HDGF PKNOX1 ARID4B SIN3A ZNF2 POLR2B ZNF766 ZNF207 ZNF143 KLF13 FAM118A CDPF1 RIBC2 PIR56516 GC22M044704 GC22P045074 GC22M045121
GH22I045307 Enhancer 0.2 dbSUPER 550.8 -1.1 -1110 0.6 FAM118A UPK3A GC22M044704 GC22P045074 GC22M045121
GH22I045316 Enhancer 1.3 Ensembl ENCODE dbSUPER 83.3 +9.7 9693 4.7 ATF1 FOXA2 SMAD1 FEZF1 KLF7 ATF7 RUNX3 SP3 JUNB ZNF592 FAM118A RIBC2 TTC38 PIR56516 GC22M044704 GC22P045074 GC22M045121
GH22I045413 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 59.1 +104.8 104765 1.3 FOXA2 RB1 ARID4B SIN3A BMI1 BRCA1 ZNF335 E2F8 ZHX2 REST RIBC2 SMC1B FAM118A ENSG00000273243 TRMU LOC642648 CDPF1 ENSG00000232363 GC22M045121 GC22P045074
GH22I045305 Enhancer 0.8 ENCODE dbSUPER 73.5 -2.7 -2677 1.9 SOX5 ZNF121 PKNOX1 SP5 HLF CEBPA CEBPB ZBTB33 FAM118A RIBC2 UPK3A GC22M044704 GC22P045074 GC22M045121
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM118A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM118A gene promoter:

Genomic Locations for FAM118A Gene

Genomic Locations for FAM118A Gene
chr22:45,308,968-45,341,955
(GRCh38/hg38)
Size:
32,988 bases
Orientation:
Plus strand
chr22:45,704,849-45,737,836
(GRCh37/hg19)

Genomic View for FAM118A Gene

Genes around FAM118A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM118A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM118A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM118A Gene

Proteins for FAM118A Gene

  • Protein details for FAM118A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWS6-F118A_HUMAN
    Recommended name:
    Protein FAM118A
    Protein Accession:
    Q9NWS6
    Secondary Accessions:
    • B3KWG4
    • B4DY02
    • Q5TII5
    • Q96CY3

    Protein attributes for FAM118A Gene

    Size:
    357 amino acids
    Molecular mass:
    40269 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM118A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM118A Gene

Post-translational modifications for FAM118A Gene

No Post-translational modifications

No data available for DME Specific Peptides for FAM118A Gene

Domains & Families for FAM118A Gene

Gene Families for FAM118A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM118A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM118A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWS6

UniProtKB/Swiss-Prot:

F118A_HUMAN :
  • Belongs to the FAM118 family.
Family:
  • Belongs to the FAM118 family.
genes like me logo Genes that share domains with FAM118A: view

Function for FAM118A Gene

Phenotypes From GWAS Catalog for FAM118A Gene

Gene Ontology (GO) - Molecular Function for FAM118A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM118A: view
genes like me logo Genes that share phenotypes with FAM118A: view

Animal Model Products

miRNA for FAM118A Gene

miRTarBase miRNAs that target FAM118A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM118A Gene

Localization for FAM118A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM118A Gene

Membrane; Single-pass membrane protein.

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 FAM118A gene
Compartment Confidence
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for FAM118A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM118A: view

Pathways & Interactions for FAM118A Gene

SuperPathways for FAM118A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM118A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM118A Gene

Drugs & Compounds for FAM118A Gene

No Compound Related Data Available

Transcripts for FAM118A Gene

Unigene Clusters for FAM118A Gene

Family with sequence similarity 118, member A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM118A Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14a · 14b · 14c ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - -
SP7: -
SP8: -
SP9: -
SP10:
SP11: - - -

ExUns: 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for FAM118A Gene

GeneLoc Exon Structure for
FAM118A
ECgene alternative splicing isoforms for
FAM118A

Expression for FAM118A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM118A Gene

Protein differential expression in normal tissues from HIPED for FAM118A Gene

This gene is overexpressed in Bone (48.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM118A Gene



Protein tissue co-expression partners for FAM118A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM118A Gene:

FAM118A

SOURCE GeneReport for Unigene cluster for FAM118A Gene:

Hs.265018

Evidence on tissue expression from TISSUES for FAM118A Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with FAM118A: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM118A Gene

Orthologs for FAM118A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM118A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM118A 33 34
  • 98.97 (n)
cow
(Bos Taurus)
Mammalia FAM118A 33 34
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Fam118a 33
  • 87.49 (n)
dog
(Canis familiaris)
Mammalia FAM118A 33 34
  • 87.3 (n)
mouse
(Mus musculus)
Mammalia Fam118a 33 16 34
  • 86.93 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FAM118A 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM118A 34
  • 76 (a)
OneToOne
Species where no ortholog for FAM118A 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)
  • 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 squirt (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)
  • zebrafish (Danio rerio)

Evolution for FAM118A Gene

ENSEMBL:
Gene Tree for FAM118A (if available)
TreeFam:
Gene Tree for FAM118A (if available)

Paralogs for FAM118A Gene

Paralogs for FAM118A Gene

(1) SIMAP similar genes for FAM118A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FAM118A: view

Variants for FAM118A Gene

Sequence variations from dbSNP and Humsavar for FAM118A Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000021236 -- 45,311,209(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000064132 -- 45,319,701(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000070813 -- 45,325,641(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000155834 -- 45,316,794(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000206340 -- 45,316,545(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM118A Gene

Variant ID Type Subtype PubMed ID
dgv846e214 CNV loss 21293372
esv1005664 CNV insertion 20482838
esv1087404 CNV insertion 17803354
esv1390438 CNV insertion 17803354
esv1530597 CNV insertion 17803354
esv2052102 CNV deletion 18987734
esv2645741 CNV deletion 19546169
esv2724400 CNV deletion 23290073
esv2724401 CNV deletion 23290073
esv2758843 CNV gain 17122850
esv34218 CNV gain 17911159
esv3558241 CNV deletion 23714750
esv3647921 CNV gain 21293372
esv3647926 CNV gain 21293372
esv3647929 CNV loss 21293372
esv3647930 CNV gain 21293372
nsv1066204 CNV gain 25217958
nsv1072644 CNV deletion 25765185
nsv1143265 CNV deletion 24896259
nsv1145845 CNV deletion 26484159
nsv471210 CNV gain 18288195
nsv508741 CNV insertion 20534489
nsv514972 CNV gain+loss 21397061
nsv9921 CNV gain+loss 18304495

Variation tolerance for FAM118A Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM118A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM118A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM118A Gene

Disorders for FAM118A Gene

Additional Disease Information for FAM118A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FAM118A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM118A Gene

Publications for FAM118A Gene

  1. Tissue effect on genetic control of transcript isoform variation. (PMID: 19680542) Kwan T … Majewski J (PLoS genetics 2009) 3 44 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. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  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 58
  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 58

Products for FAM118A Gene

Sources for FAM118A Gene

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