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Aliases for FAM222B Gene

Aliases for FAM222B Gene

  • Family With Sequence Similarity 222 Member B 2 3 5
  • C17orf63 3 4
  • Family With Sequence Similarity 222, Member B 2
  • Chromosome 17 Open Reading Frame 63 2
  • Uncharacterized Protein C17orf63 3
  • Protein FAM222B 3

External Ids for FAM222B Gene

Previous HGNC Symbols for FAM222B Gene

  • C17orf63

Previous GeneCards Identifiers for FAM222B Gene

  • GC17M027086
  • GC17M027145

Summaries for FAM222B Gene

GeneCards Summary for FAM222B Gene

FAM222B (Family With Sequence Similarity 222 Member B) is a Protein Coding gene. Diseases associated with FAM222B include Cerebral Cavernous Malformations and Central Nervous System Hemangioma. An important paralog of this gene is FAM222A.

Additional gene information for FAM222B 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 FAM222B Gene

Genomics for FAM222B Gene

GeneHancer (GH) Regulatory Elements for FAM222B Gene

Promoters and enhancers for FAM222B 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
GH17I028807 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.3 +44.8 44793 6.8 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FAM222B TRAF4 LOC101927018 ERAL1 FLOT2 DHRS13 NEK8 TLCD1 SNORD42A SNORD4B
GH17I028854 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 174 1.7 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 FAM222B ERAL1 FLOT2 DHRS13 SNORD42A SNORD4A SNORD4B PROCA1
GH17I028841 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.4 +12.9 12862 2.1 HDGF SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 POLR2B E2F8 ZNF207 FAM222B RAB34 TRAF4 SARM1 RPL23A TAOK1 GIT1 ENSG00000264138 ENSG00000238516
GH17I028786 Promoter 0.5 EPDnew 550.2 +68.3 68322 0.1 FAM222B TRAF4 FLOT2 DHRS13 RPL31P58 ENSG00000265840
GH17I028923 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -70.8 -70831 4.8 PKNOX1 ATF1 FEZF1 IRF4 ZNF766 FOS ATF7 RUNX3 PAF1 JUNB LOC101927018 PHF12 FLOT2 DHRS13 ERAL1 FAM222B SEZ6 SUPT6H NUFIP2 SNORD42A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM222B on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM222B Gene

Genomic Locations for FAM222B Gene
chr17:28,755,978-28,855,232
(GRCh38/hg38)
Size:
99,255 bases
Orientation:
Minus strand
chr17:27,082,996-27,182,250
(GRCh37/hg19)

Genomic View for FAM222B Gene

Genes around FAM222B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM222B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM222B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM222B Gene

Proteins for FAM222B Gene

  • Protein details for FAM222B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU58-F222B_HUMAN
    Recommended name:
    Protein FAM222B
    Protein Accession:
    Q8WU58
    Secondary Accessions:
    • Q9H6F3
    • Q9NVJ4
    • Q9NXN6

    Protein attributes for FAM222B Gene

    Size:
    562 amino acids
    Molecular mass:
    59652 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA90974.1; Type=Frameshift; Positions=433; Evidence={ECO:0000305}; Sequence=BAB15306.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for FAM222B Gene

Post-translational modifications for FAM222B Gene

No Post-translational modifications

No data available for DME Specific Peptides for FAM222B Gene

Domains & Families for FAM222B Gene

Gene Families for FAM222B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM222B Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8WU58

UniProtKB/Swiss-Prot:

F222B_HUMAN :
  • Belongs to the FAM222 family.
Family:
  • Belongs to the FAM222 family.
genes like me logo Genes that share domains with FAM222B: view

No data available for Suggested Antigen Peptide Sequences for FAM222B Gene

Function for FAM222B Gene

Phenotypes From GWAS Catalog for FAM222B Gene

genes like me logo Genes that share phenotypes with FAM222B: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM222B Gene

Localization for FAM222B 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 FAM222B gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM222B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with FAM222B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM222B Gene

Pathways & Interactions for FAM222B Gene

SuperPathways for FAM222B Gene

No Data Available

Interacting Proteins for FAM222B 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.ENSP00000343115%0d%0a9606.ENSP00000384625%0d%0a
Selected Interacting proteins: ENSP00000343115 Q8WU58-F222B_HUMAN for FAM222B Gene via STRING UniProtKB IID

Gene Ontology (GO) - Biological Process for FAM222B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM222B Gene

Drugs & Compounds for FAM222B Gene

No Compound Related Data Available

Transcripts for FAM222B Gene

Unigene Clusters for FAM222B Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM222B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5: - - - - - -
SP6: -
SP7: - -
SP8:

Relevant External Links for FAM222B Gene

GeneLoc Exon Structure for
FAM222B
ECgene alternative splicing isoforms for
FAM222B

Expression for FAM222B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM222B Gene

mRNA differential expression in normal tissues according to GTEx for FAM222B Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for FAM222B Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM222B Gene



Protein tissue co-expression partners for FAM222B Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM222B Gene:

FAM222B

SOURCE GeneReport for Unigene cluster for FAM222B Gene:

Hs.564533

Evidence on tissue expression from TISSUES for FAM222B Gene

  • Intestine(4.2)
  • Kidney(4.2)
  • Lung(4.2)
  • Nervous system(3.3)
  • Skin(2.5)
genes like me logo Genes that share expression patterns with FAM222B: 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 FAM222B Gene

Orthologs for FAM222B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM222B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM222B 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia FAM222B 33 34
  • 96.68 (n)
rat
(Rattus norvegicus)
Mammalia Fam222b 33
  • 95.73 (n)
mouse
(Mus musculus)
Mammalia Fam222b 33 16 34
  • 95.43 (n)
cow
(Bos Taurus)
Mammalia C19H17orf63 33
  • 95.14 (n)
FAM222B 34
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM222B 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves C19H17ORF63 33
  • 75.08 (n)
lizard
(Anolis carolinensis)
Reptilia FAM222B 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam222b 33
  • 67.97 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793183 33
  • 65.92 (n)
fam222bb 34
  • 52 (a)
OneToMany
fam222ba 34
  • 48 (a)
OneToMany
Species where no ortholog for FAM222B 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)
  • 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 FAM222B Gene

ENSEMBL:
Gene Tree for FAM222B (if available)
TreeFam:
Gene Tree for FAM222B (if available)

Paralogs for FAM222B Gene

Paralogs for FAM222B Gene

genes like me logo Genes that share paralogs with FAM222B: view

Variants for FAM222B Gene

Sequence variations from dbSNP and Humsavar for FAM222B Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000007106 -- 28,826,133(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000024785 -- 28,818,810(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000095529 -- 28,851,242(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000105876 -- 28,803,945(-) C/T intron_variant
rs1000115745 -- 28,817,932(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM222B Gene

Variant ID Type Subtype PubMed ID
nsv960458 CNV duplication 23825009
nsv2019 CNV insertion 18451855
nsv1138530 CNV deletion 24896259
esv3640313 CNV loss 21293372
esv28410 CNV loss 19812545
esv2673854 CNV deletion 23128226
esv2656935 CNV deletion 23128226
esv1280050 CNV deletion 17803354

Variation tolerance for FAM222B Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM222B Gene

Human Gene Mutation Database (HGMD)
FAM222B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM222B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM222B Gene

Disorders for FAM222B Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM222B Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebral cavernous malformations
  • ccm
central nervous system hemangioma
  • hemangioma of cns
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM222B

genes like me logo Genes that share disorders with FAM222B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM222B Gene

Publications for FAM222B Gene

  1. FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. (PMID: 27587990) Spiegler S … Felbor U (Molecular syndromology 2016) 2 3 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. 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
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for FAM222B Gene

Sources for FAM222B Gene

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