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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 3. An important paralog of this gene is FAM222A.

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

Regulatory Elements for FAM222B Gene

Enhancers for FAM222B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G028923 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -70.8 -70832 4.8 PKNOX1 ATF1 FEZF1 ZNF766 GATA2 CBX5 FOS PAF1 JUNB NCOA1 PHF12 FLOT2 DHRS13 ERAL1 FAM222B SEZ6 SNORD42A SNORD4A SNORD4B PROCA1
GH17G028807 1.6 FANTOM5 ENCODE dbSUPER 12.2 +44.8 44793 6.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A FEZF1 DMAP1 ZNF2 YY1 TRAF4 ENSG00000264577 ENSG00000265205 NUFIP2 ENSG00000265908 ERAL1 FAM222B FLOT2 DHRS13 LOC101927018
GH17G028760 1.5 Ensembl ENCODE dbSUPER 12 +94.0 93961 2.2 CREB3L1 ARNT SIN3A YBX1 ETS1 ZNF766 ELK1 KLF13 ZNF592 MEF2D TRAF4 TLCD1 NEK8 SNORD4B SNORD42A FAM222B ERAL1 SNORD4A RAB34 SNORD42B
GH17G028911 1.2 ENCODE dbSUPER 12.4 -57.1 -57094 1.3 PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 GATA2 JUNB REST ZNF623 FAM222B ERAL1 SNORD42A SNORD4A RAB34 RPL23A SNORD42B DHRS13 LOC101927018
GH17G028764 1.1 ENCODE dbSUPER 12 +91.3 91315 0.2 HDAC1 HDGF ATF1 NFIB WRNIP1 ARID4B BMI1 ZNF2 RAD21 RFX5 ENSG00000264577 TLCD1 NEK8 SNORD42A SNORD4B NUFIP2 FAM222B ERAL1 RPL23A SNORD42B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM222B on UCSC Golden Path with GeneCards custom track

Promoters for FAM222B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092772 132 1001 PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for FAM222B Gene

Chromosome:
17
Start:
28,755,978 bp from pter
End:
28,855,232 bp from pter
Size:
99,255 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM222B Gene

Domains & Families for FAM222B Gene

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 Gene Families and Suggested Antigen Peptide Sequences for FAM222B Gene

Function for FAM222B Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA 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

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: Q8WU58-F222B_HUMAN ENSP00000343115 for FAM222B Gene via IID STRING

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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia FAM222B 34 35
  • 96.68 (n)
rat
(Rattus norvegicus)
Mammalia Fam222b 34
  • 95.73 (n)
mouse
(Mus musculus)
Mammalia Fam222b 34 16 35
  • 95.43 (n)
cow
(Bos Taurus)
Mammalia C19H17orf63 34
  • 95.14 (n)
FAM222B 35
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM222B 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves C19H17ORF63 34
  • 75.08 (n)
lizard
(Anolis carolinensis)
Reptilia FAM222B 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam222b 34
  • 67.97 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793183 34
  • 65.92 (n)
fam222bb 35
  • 52 (a)
OneToMany
fam222ba 35
  • 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 Sequence Context AA Info Type
rs1000007106 -- 28,826,133(+) GGCAC(A/G)ATCTT intron-variant
rs1000024785 -- 28,818,810(+) AAAAA(A/G)TAAAA intron-variant
rs1000090281 -- 28,766,458(+) GTCTT(-/AAAAA)AAAAA intron-variant
rs1000095529 -- 28,851,242(+) ACCAG(C/T)CTGGG intron-variant
rs1000105876 -- 28,803,945(+) CACTG(C/T)GCTCC intron-variant

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

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

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)

Relevant External Links 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

(1) MalaCards diseases for FAM222B Gene - From: DISEASES

Disorder Aliases PubMed IDs
cerebral cavernous malformations 3
  • cerebral cavernous malformation 3
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM222B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol Syndromol 2016) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for FAM222B Gene

Sources for FAM222B Gene

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