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Aliases for FAM222A Gene

Aliases for FAM222A Gene

  • Family With Sequence Similarity 222 Member A 2 3 5
  • C12orf34 3 4
  • Family With Sequence Similarity 222, Member A 2
  • Chromosome 12 Open Reading Frame 34 2
  • Protein FAM222A 3

External Ids for FAM222A Gene

Previous HGNC Symbols for FAM222A Gene

  • C12orf34

Previous GeneCards Identifiers for FAM222A Gene

  • GC12P110152

Summaries for FAM222A Gene

GeneCards Summary for FAM222A Gene

FAM222A (Family With Sequence Similarity 222 Member A) is a Protein Coding gene. An important paralog of this gene is FAM222B.

Additional gene information for FAM222A 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 FAM222A Gene

Genomics for FAM222A Gene

GeneHancer (GH) Regulatory Elements for FAM222A Gene

Promoters and enhancers for FAM222A 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
GH12I109713 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.2 1163 3.7 PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 ZNF766 ZNF213 E2F8 ZNF143 GC12P109715 FAM222A RNU4-32P MVK MMAB TRPV4 UBE3B
GH12I109725 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.4 +11.2 11152 0.1 FAM222A TRPV4 GC12P109715 FAM222A-AS1
GH12I109712 Enhancer 0.4 dbSUPER 555.2 -1.4 -1436 0.3 ZNF664 ADNP FAM222A MMAB MVK RNU4-32P RN7SKP250 GC12M109663
GH12I109736 Enhancer 1.1 ENCODE dbSUPER 16.2 +25.9 25892 6.5 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 TCF12 GATA2 ZNF143 FAM222A-AS1 FAM222A TRPV4 GC12P109715
GH12I109625 Enhancer 1 FANTOM5 ENCODE dbSUPER 14.9 -88.9 -88928 0.4 MEIS2 JUND PKNOX1 CREB1 RCOR1 FOS CHD2 FAM222A MVK MMAB RNU4-32P C12orf76 TCHP GC12M109613 GC12M109663 RN7SKP250
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM222A on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM222A Gene

Genomic Locations for FAM222A Gene
chr12:109,714,228-109,770,509
(GRCh38/hg38)
Size:
56,282 bases
Orientation:
Plus strand
chr12:110,152,033-110,208,312
(GRCh37/hg19)

Genomic View for FAM222A Gene

Genes around FAM222A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM222A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM222A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM222A Gene

Proteins for FAM222A Gene

  • Protein details for FAM222A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5U5X8-F222A_HUMAN
    Recommended name:
    Protein FAM222A
    Protein Accession:
    Q5U5X8
    Secondary Accessions:
    • Q8NCD5
    • Q96SP6

    Protein attributes for FAM222A Gene

    Size:
    452 amino acids
    Molecular mass:
    46792 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11219.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for FAM222A Gene

Post-translational modifications for FAM222A Gene

No Post-translational modifications

Other Protein References for FAM222A Gene

No data available for DME Specific Peptides for FAM222A Gene

Domains & Families for FAM222A Gene

Gene Families for FAM222A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM222A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5U5X8

UniProtKB/Swiss-Prot:

F222A_HUMAN :
  • Belongs to the FAM222 family.
Family:
  • Belongs to the FAM222 family.
genes like me logo Genes that share domains with FAM222A: view

No data available for Suggested Antigen Peptide Sequences for FAM222A Gene

Function for FAM222A Gene

Phenotypes for FAM222A Gene

genes like me logo Genes that share phenotypes with FAM222A: view

miRNA for FAM222A Gene

miRTarBase miRNAs that target FAM222A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM222A Gene

Localization for FAM222A 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 FAM222A gene
Compartment Confidence
mitochondrion 3
nucleus 3
plasma membrane 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
  • Mitochondria (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM222A Gene

Pathways & Interactions for FAM222A Gene

SuperPathways for FAM222A Gene

No Data Available

Interacting Proteins for FAM222A Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000351783%0d%0a9606.ENSP00000384625%0d%0a
Selected Interacting proteins: ENSP00000351783 Q5U5X8-F222A_HUMAN for FAM222A Gene via STRING IID

Gene Ontology (GO) - Biological Process for FAM222A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM222A Gene

Drugs & Compounds for FAM222A Gene

No Compound Related Data Available

Transcripts for FAM222A Gene

Unigene Clusters for FAM222A Gene

Family with sequence similarity 222, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM222A Gene

No ASD Table

Relevant External Links for FAM222A Gene

GeneLoc Exon Structure for
FAM222A
ECgene alternative splicing isoforms for
FAM222A

Expression for FAM222A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM222A Gene

mRNA differential expression in normal tissues according to GTEx for FAM222A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.6).

Protein differential expression in normal tissues from HIPED for FAM222A Gene

This gene is overexpressed in Bone (42.7) and Fetal testis (26.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM222A Gene



Protein tissue co-expression partners for FAM222A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM222A Gene:

FAM222A

SOURCE GeneReport for Unigene cluster for FAM222A Gene:

Hs.661785

Evidence on tissue expression from TISSUES for FAM222A Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with FAM222A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM222A Gene

Orthologs for FAM222A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM222A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM222A 33 34
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia FAM222A 33 34
  • 89.03 (n)
cow
(Bos Taurus)
Mammalia C17H12orf34 33
  • 86.28 (n)
FAM222A 34
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam222a 33 16 34
  • 85.22 (n)
rat
(Rattus norvegicus)
Mammalia Fam222a 33
  • 85.22 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM222A 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12ORF34 33
  • 74.45 (n)
FAM222A 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam222a 33
  • 64.35 (n)
zebrafish
(Danio rerio)
Actinopterygii fam222a 33 34
  • 65.22 (n)
FAM222A (1 of 2) 34
  • 40 (a)
OneToMany
Species where no ortholog for FAM222A 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM222A Gene

ENSEMBL:
Gene Tree for FAM222A (if available)
TreeFam:
Gene Tree for FAM222A (if available)

Paralogs for FAM222A Gene

Paralogs for FAM222A Gene

genes like me logo Genes that share paralogs with FAM222A: view

Variants for FAM222A Gene

Sequence variations from dbSNP and Humsavar for FAM222A Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs763757845 likely-pathogenic, Abnormality of brain morphology 109,768,213(+) A/T coding_sequence_variant, missense_variant
rs1000143821 -- 109,734,730(+) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000178989 -- 109,740,251(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000179986 -- 109,738,010(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000206058 -- 109,743,448(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM222A Gene

Variant ID Type Subtype PubMed ID
dgv2856n54 CNV gain 21841781
dgv2857n54 CNV gain 21841781
dgv2858n54 CNV loss 21841781
dgv2859n54 CNV gain+loss 21841781
dgv2860n54 CNV gain 21841781
esv22410 CNV loss 19812545
esv3630725 CNV loss 21293372
nsv478915 CNV novel sequence insertion 20440878
nsv560132 CNV gain+loss 21841781
nsv560133 CNV gain 21841781
nsv560141 CNV gain+loss 21841781
nsv560142 CNV gain 21841781
nsv560147 CNV loss 21841781
nsv560148 CNV loss 21841781
nsv560151 CNV loss 21841781

Variation tolerance for FAM222A Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM222A Gene

Human Gene Mutation Database (HGMD)
FAM222A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM222A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM222A Gene

Disorders for FAM222A Gene

Additional Disease Information for FAM222A

No disorders were found for FAM222A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM222A Gene

Publications for FAM222A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. 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
  3. 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
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 58

Products for FAM222A Gene

Sources for FAM222A Gene

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