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Aliases for FAM193B Gene

Aliases for FAM193B Gene

  • Family With Sequence Similarity 193 Member B 2 3 5
  • IRIZIO 3 4
  • Family With Sequence Similarity 193, Member B 2
  • Protein FAM193B 3
  • KIAA1931 4

External Ids for FAM193B Gene

Previous GeneCards Identifiers for FAM193B Gene

  • GC05M176880
  • GC05M176946
  • GC05M171867

Summaries for FAM193B Gene

GeneCards Summary for FAM193B Gene

FAM193B (Family With Sequence Similarity 193 Member B) is a Protein Coding gene. Diseases associated with FAM193B include Rhabdomyosarcoma. An important paralog of this gene is FAM193A.

Additional gene information for FAM193B 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 FAM193B Gene

Genomics for FAM193B Gene

GeneHancer (GH) Regulatory Elements for FAM193B Gene

Promoters and enhancers for FAM193B 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
GH05I177552 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 363 3.2 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 E2F8 ZNF143 SP3 FAM193B GC05P177553 LOC105377750 DOK3 DDX41 TMED9 B4GALT7 FAM153A
GH05I178203 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 68.9 -655.2 -655197 12.3 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 HNRNPAB ENSG00000247679 FAM193B ZNF879 LOC202181 ZNF354C ZFP2 ENSG00000254035 ZNF454 CLK4
GH05I177004 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 35.1 +548.3 548325 2.7 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF207 ZNF143 UIMC1 FAF2 ENSG00000250909 ENSG00000251414 NSD1 FAM193B ENSG00000247679 ZNF346 LOC202181 ZNF346-IT1
GH05I178129 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 31.4 -576.2 -576190 2.8 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B POLR2B ZNF213 E2F8 ZNF207 RMND5B FAM193B ENSG00000247679 NSD1 ZNF354B LOC202181 MXD3 HNRNPAB RPL21P60 N4BP3
GH05I177377 Enhancer 1.3 Ensembl ENCODE 42.1 +175.5 175480 2.2 HDGF FOXA2 MLX ARNT ARID4B DMAP1 IRF4 YY1 SLC30A9 POLR2B SLC34A1 RGS14 FAM193B NSD1 FAF2 ENSG00000247679 MXD3 ZNF346-IT1 UIMC1 LOC202181
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM193B on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM193B Gene

Genomic Locations for FAM193B Gene
chr5:177,519,788-177,554,547
(GRCh38/hg38)
Size:
34,760 bases
Orientation:
Minus strand
chr5:176,946,789-176,981,548
(GRCh37/hg19)

Genomic View for FAM193B Gene

Genes around FAM193B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM193B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM193B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM193B Gene

Proteins for FAM193B Gene

  • Protein details for FAM193B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PV7-F193B_HUMAN
    Recommended name:
    Protein FAM193B
    Protein Accession:
    Q96PV7
    Secondary Accessions:
    • E9PET5
    • Q9NW00

    Protein attributes for FAM193B Gene

    Size:
    902 amino acids
    Molecular mass:
    96543 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB67824.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM193B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM193B Gene

Post-translational modifications for FAM193B Gene

  • Ubiquitination at posLast=680680
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAM193B Gene

Domains & Families for FAM193B Gene

Gene Families for FAM193B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM193B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM193B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PV7

UniProtKB/Swiss-Prot:

F193B_HUMAN :
  • Belongs to the FAM193 family.
Family:
  • Belongs to the FAM193 family.
genes like me logo Genes that share domains with FAM193B: view

Function for FAM193B Gene

Phenotypes From GWAS Catalog for FAM193B Gene

genes like me logo Genes that share phenotypes with FAM193B: 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 FAM193B Gene

Localization for FAM193B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM193B Gene

Cytoplasm. Nucleus. Note=Partly colocalized with an endoplasmic reticulum marker, HSP90B1. Shuttles between nucleus and cytoplasm.

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 FAM193B gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM193B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21177767
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,IEA 21177767
genes like me logo Genes that share ontologies with FAM193B: view

Pathways & Interactions for FAM193B Gene

SuperPathways for FAM193B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM193B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM193B Gene

Drugs & Compounds for FAM193B Gene

No Compound Related Data Available

Transcripts for FAM193B Gene

Unigene Clusters for FAM193B Gene

Family with sequence similarity 193, member B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM193B Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c · 11d ^ 12 ^
SP1:
SP2: - -
SP3: - - - -
SP4:
SP5:
SP6: - -
SP7: -
SP8: - -
SP9: - -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15: - - - -
SP16:

ExUns: 13a · 13b ^ 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c
SP1: -
SP2: - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: - - - - - -
SP10:
SP11: - -
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for FAM193B Gene

GeneLoc Exon Structure for
FAM193B
ECgene alternative splicing isoforms for
FAM193B

Expression for FAM193B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM193B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM193B Gene

This gene is overexpressed in Heart (43.8) and Peripheral blood mononuclear cells (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM193B Gene



Protein tissue co-expression partners for FAM193B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM193B Gene:

FAM193B

SOURCE GeneReport for Unigene cluster for FAM193B Gene:

Hs.484289

mRNA Expression by UniProt/SwissProt for FAM193B Gene:

Q96PV7-F193B_HUMAN
Tissue specificity: Isoform 1 is up-regulated in both embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma cell lines.

Evidence on tissue expression from TISSUES for FAM193B Gene

  • Nervous system(4.4)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with FAM193B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM193B Gene

Orthologs for FAM193B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM193B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM193B 33 34
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia FAM193B 33 34
  • 90.5 (n)
dog
(Canis familiaris)
Mammalia FAM193B 34
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam193b 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM193B 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM193B 34
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM193B 34
  • 49 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3763 33
zebrafish
(Danio rerio)
Actinopterygii fam193b 34
  • 31 (a)
OneToOne
Species where no ortholog for FAM193B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for FAM193B Gene

ENSEMBL:
Gene Tree for FAM193B (if available)
TreeFam:
Gene Tree for FAM193B (if available)

Paralogs for FAM193B Gene

Paralogs for FAM193B Gene

genes like me logo Genes that share paralogs with FAM193B: view

Variants for FAM193B Gene

Sequence variations from dbSNP and Humsavar for FAM193B Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000112349 -- 177,521,205(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000136820 -- 177,531,087(-) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000389565 -- 177,550,990(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000498829 -- 177,549,901(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000549519 -- 177,520,848(-) C/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM193B Gene

Variant ID Type Subtype PubMed ID
esv1002656 CNV deletion 20482838
nsv1161311 CNV duplication 26073780
nsv5147 CNV deletion 18451855
nsv5148 CNV insertion 18451855

Variation tolerance for FAM193B Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM193B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM193B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM193B Gene

Disorders for FAM193B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM193B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rhabdomyosarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM193B

genes like me logo Genes that share disorders with FAM193B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM193B Gene

Publications for FAM193B Gene

  1. IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). (PMID: 21177767) Picchione F … Grosveld GC (Carcinogenesis 2011) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  3. Interactions of cullin3/KCTD5 complexes with both cytoplasmic and nuclear proteins: Evidence for a role in protein stabilization. (PMID: 26188516) Rutz N … Weger S (Biochemical and biophysical research communications 2015) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for FAM193B Gene

Sources for FAM193B Gene

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