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Aliases for FAM58A Gene

Aliases for FAM58A Gene

  • Family With Sequence Similarity 58 Member A 2 3 5
  • Family With Sequence Similarity 58, Member A 2 3
  • CDK10-Activating Cyclin 3 4
  • Cyclin M 2 3
  • Cyclin-M 4
  • STAR 3

External Ids for FAM58A Gene

Previous GeneCards Identifiers for FAM58A Gene

  • GC0XM152375
  • GC0XM152506
  • GC0XM152854
  • GC0XM141511

Summaries for FAM58A Gene

Entrez Gene Summary for FAM58A Gene

  • Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

GeneCards Summary for FAM58A Gene

FAM58A (Family With Sequence Similarity 58 Member A) is a Protein Coding gene. Diseases associated with FAM58A include star syndrome and syndactyly. Among its related pathways are Metabolism and Corticotropin-releasing hormone. GO annotations related to this gene include protein kinase binding and protein kinase activator activity. An important paralog of this gene is CCNT2.

UniProtKB/Swiss-Prot for FAM58A Gene

  • Activating cyclin for the cyclin-associated kinase CDK10.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM58A Gene

Genomics for FAM58A Gene

Regulatory Elements for FAM58A Gene

Promoters for FAM58A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM58A on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM58A Gene

Chromosome:
X
Start:
153,587,919 bp from pter
End:
153,600,045 bp from pter
Size:
12,127 bases
Orientation:
Minus strand

Genomic View for FAM58A Gene

Genes around FAM58A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM58A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM58A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM58A Gene

Proteins for FAM58A Gene

  • Protein details for FAM58A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1B3-FA58A_HUMAN
    Recommended name:
    Cyclin-related protein FAM58A
    Protein Accession:
    Q8N1B3
    Secondary Accessions:
    • Q2I380
    • Q330J9
    • Q96IU5
    • Q9BUU1

    Protein attributes for FAM58A Gene

    Size:
    248 amino acids
    Molecular mass:
    28369 Da
    Quaternary structure:
    • Associates with CDK10 to promote its kinase activity. Interacts with SALL1.
    Miscellaneous:
    • Silencing with siRNAs phenocopies CDK10 silencing in increasing c-Raf and in conferring tamoxifen resistance to breast cancer cells.
    SequenceCaution:
    • Sequence=AAH01909.4; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH07232.4; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH32121.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH71851.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM58A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM58A Gene

Proteomics data for FAM58A Gene at MOPED

Post-translational modifications for FAM58A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM58A Gene

Domains & Families for FAM58A Gene

Protein Domains for FAM58A Gene

Suggested Antigen Peptide Sequences for FAM58A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N1B3

UniProtKB/Swiss-Prot:

FA58A_HUMAN :
  • Belongs to the cyclin family. Cyclin-like FAM58 subfamily.
Family:
  • Belongs to the cyclin family. Cyclin-like FAM58 subfamily.
genes like me logo Genes that share domains with FAM58A: view

No data available for Gene Families for FAM58A Gene

Function for FAM58A Gene

Molecular function for FAM58A Gene

UniProtKB/Swiss-Prot Function:
Activating cyclin for the cyclin-associated kinase CDK10.

Gene Ontology (GO) - Molecular Function for FAM58A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030295 protein kinase activator activity IEA --
genes like me logo Genes that share ontologies with FAM58A: view

Phenotypes for FAM58A Gene

genes like me logo Genes that share phenotypes with FAM58A: view

Human Phenotype Ontology for FAM58A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM58A Gene

Localization for FAM58A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM58A Gene COMPARTMENTS Subcellular localization image for FAM58A gene
Compartment Confidence
nucleus 4
cytosol 3
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM58A Gene

Pathways & Interactions for FAM58A Gene

genes like me logo Genes that share pathways with FAM58A: view

Pathways by source for FAM58A Gene

Interacting Proteins for FAM58A Gene

Gene Ontology (GO) - Biological Process for FAM58A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity IBA --
GO:1901409 positive regulation of phosphorylation of RNA polymerase II C-terminal domain IBA --
genes like me logo Genes that share ontologies with FAM58A: view

No data available for SIGNOR curated interactions for FAM58A Gene

Drugs & Compounds for FAM58A Gene

No Compound Related Data Available

Transcripts for FAM58A Gene

Unigene Clusters for FAM58A Gene

Family with sequence similarity 58, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM58A Gene

No ASD Table

Relevant External Links for FAM58A Gene

GeneLoc Exon Structure for
FAM58A
ECgene alternative splicing isoforms for
FAM58A

Expression for FAM58A Gene

mRNA expression in normal human tissues for FAM58A Gene

Protein differential expression in normal tissues from HIPED for FAM58A Gene

This gene is overexpressed in Lung (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FAM58A Gene



SOURCE GeneReport for Unigene cluster for FAM58A Gene Hs.496943

genes like me logo Genes that share expression patterns with FAM58A: view

Protein tissue co-expression partners for FAM58A Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FAM58A Gene

Orthologs for FAM58A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM58A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM58A 35
  • 99.69 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia FAM58A 35
  • 86.86 (n)
  • 87.71 (a)
dog
(Canis familiaris)
Mammalia FAM58A 35
  • 90.52 (n)
  • 90.05 (a)
mouse
(Mus musculus)
Mammalia Fam58b 35
  • 86.64 (n)
  • 91.81 (a)
Fam58b 16
rat
(Rattus norvegicus)
Mammalia Fam58b 35
  • 85.2 (n)
  • 90.95 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32944 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fam58a 35
  • 68.3 (n)
  • 75.11 (a)
Str.6402 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13923 35
zebrafish
(Danio rerio)
Actinopterygii fam58a 35
  • 64.7 (n)
  • 64.09 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005056 35
  • 51.15 (n)
  • 42.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta koko 35
  • 54.09 (n)
  • 38.21 (a)
Species with no ortholog for FAM58A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 FAM58A Gene

ENSEMBL:
Gene Tree for FAM58A (if available)
TreeFam:
Gene Tree for FAM58A (if available)

Paralogs for FAM58A Gene

Paralogs for FAM58A Gene

(4) SIMAP similar genes for FAM58A Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for FAM58A Gene

genes like me logo Genes that share paralogs with FAM58A: view

Variants for FAM58A Gene

Sequence variations from dbSNP and Humsavar for FAM58A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs17850173 - 153,592,615(+) GGAGG(C/G)ACAGC reference, missense
rs2280924 -- 153,592,235(+) AAAGC(A/G)GTTCT intron-variant
rs2280925 -- 153,592,362(+) CCATC(A/G)CAACA intron-variant
rs2294104 -- 153,595,932(+) GGCAG(A/G)GCCCC intron-variant
rs2294105 -- 153,595,968(+) CCCAC(C/T)GGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM58A Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407

Variation tolerance for FAM58A Gene

Gene Damage Index Score: 0.53; 11.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM58A Gene

HapMap Linkage Disequilibrium report
FAM58A
Human Gene Mutation Database (HGMD)
FAM58A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM58A Gene

Disorders for FAM58A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM58A Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
star syndrome
  • syndactyly, telecanthus, anogenital and renal malformations
syndactyly
  • chromosome 2q35 duplication syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FA58A_HUMAN
  • Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR) [MIM:300707]: A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. {ECO:0000269 PubMed:18297069}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM58A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM58A
genes like me logo Genes that share disorders with FAM58A: view

No data available for Genatlas for FAM58A Gene

Publications for FAM58A Gene

  1. CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. (PMID: 24218572) Guen V.J. … Colas P. (Proc. Natl. Acad. Sci. U.S.A. 2013) 2 3 4 67
  2. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. (PMID: 18297069) Unger S. … Kohlhase J. (Nat. Genet. 2008) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. (PMID: 22961080) Li H. … Lin X. (Diabetes 2013) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for FAM58A Gene

Sources for FAM58A Gene

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