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Aliases for FAM58A Gene

Aliases for FAM58A Gene

  • Family With Sequence Similarity 58 Member A 2 3 5
  • CDK10-Activating Cyclin 3 4
  • Cyclin Q 2 3
  • Family With Sequence Similarity 58, Member A 2
  • Cyclin-Related Protein FAM58A 3
  • Cyclin M 3
  • Cyclin-M 4
  • CCNQ 3
  • 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. GO annotations related to this gene include protein kinase binding and protein kinase activator activity. An important paralog of this gene is CCNL1.

UniProtKB/Swiss-Prot for FAM58A Gene

  • Activating cyclin for the cyclin-associated kinase CDK10.

No data available for CIViC summary , 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

Enhancers for FAM58A 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
GH0XG153621 1.5 FANTOM5 ENCODE dbSUPER 13.4 -25.3 -25281 7.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 PAF1 SP5 ZHX2 FAM58A DUSP9 ZNF185 ABCD1 PDZD4 ATP2B3 ENSG00000228616
GH0XG153547 0.4 FANTOM5 13.1 +52.6 52639 0.1 FOSL1 FAM58A LOC105373384 KRT18P48 SLC6A8 ATP2B3 GC0XP153580
GH0XG153582 0.8 Ensembl ENCODE 5.5 +17.0 17023 0.9 MAZ POLR2A BHLHE40 TARDBP RELB RELA KRT18P48 FAM58A GC0XP153580 LOC105373383
GH0XG153598 1 ENCODE 0.7 +0.4 422 2.4 CREB3L1 SIN3A ZNF121 GLIS2 SP3 REST ZNF610 ZSCAN16 GLIS1 CTCF KRT18P48 LOC105373383 CETN2 FAM58A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM58A on UCSC Golden Path with GeneCards custom track

Promoters for FAM58A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249566 745 2201 CREB3L1 SIN3A ZNF121 GLIS2 REST ZNF610 ZSCAN16 GLIS1 CTCF SAP30

Genomic Location for FAM58A Gene

153,587,919 bp from pter
153,600,045 bp from pter
12,127 bases
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:
    Recommended name:
    Cyclin-related protein FAM58A
    Protein Accession:
    Secondary Accessions:
    • Q2I380
    • Q330J9
    • Q96IU5
    • Q9BUU1

    Protein attributes for FAM58A Gene

    248 amino acids
    Molecular mass:
    28369 Da
    Quaternary structure:
    • Associates with CDK10 to promote its kinase activity. Interacts with SALL1.
    • Silencing with siRNAs phenocopies CDK10 silencing in increasing c-Raf and in conferring tamoxifen resistance to breast cancer cells.
    • 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


neXtProt entry for FAM58A Gene

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



  • Belongs to the cyclin family. Cyclin-like FAM58 subfamily.
  • 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:0005515 protein binding IPI 18297069
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity IBA --
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 Models for FAM58A Gene

MGI Knock Outs for FAM58A:

Animal Model Products

Inhibitory RNA Products

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

Localization for FAM58A Gene

Subcellular locations from

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 FAM58A gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAM58A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000307 cyclin-dependent protein kinase holoenzyme complex IBA --
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with FAM58A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM58A Gene

Pathways & Interactions for FAM58A Gene

SuperPathways for FAM58A Gene

No Data Available

Interacting Proteins for FAM58A Gene

Gene Ontology (GO) - Biological Process for FAM58A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032147 activation of protein kinase activity IEA --
GO:0043410 positive regulation of MAPK cascade IEA --
GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity IBA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter 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 Pathways by source and 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:

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for FAM58A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM58A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FAM58A Gene

Protein tissue co-expression partners for FAM58A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM58A Gene:


SOURCE GeneReport for Unigene cluster for FAM58A Gene:


Evidence on tissue expression from TISSUES for FAM58A Gene

  • Kidney(4.3)
  • Lung(4.1)
  • Blood(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM58A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • reproductive
  • skeleton
  • urinary
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • nose
  • outer ear
  • skull
  • heart
  • heart valve
  • kidney
  • ovary
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • hair
  • skin
genes like me logo Genes that share expression patterns with FAM58A: view

Primer 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
(Pan troglodytes)
Mammalia FAM58A 34
  • 99.69 (n)
(Canis familiaris)
Mammalia FAM58A 34
  • 90.52 (n)
(Bos Taurus)
Mammalia FAM58A 34
  • 86.86 (n)
(Mus musculus)
Mammalia Fam58b 34 16
  • 86.64 (n)
(Rattus norvegicus)
Mammalia Fam58b 34
  • 85.2 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam58a 34
  • 68.3 (n)
Str.6402 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32944 34
(Danio rerio)
Actinopterygii fam58a 34
  • 64.7 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13923 34
fruit fly
(Drosophila melanogaster)
Insecta koko 34
  • 54.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005056 34
  • 51.15 (n)
Species where no ortholog for FAM58A was found in the sources mined by GeneCards:
  • 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

Gene Tree for FAM58A (if available)
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 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
rs1000138222 -- 153,600,725(+) ACAGG(C/T)CCTGC upstream-variant-2KB
rs1000479562 -- 153,601,016(+) TGTGC(A/C/G)TGTGT upstream-variant-2KB
rs1000863489 -- 153,587,636(+) TCTTA(C/T)CCACT downstream-variant-500B
rs1000877975 -- 153,594,834(+) AAAAA(C/T)TCTTC intron-variant
rs1001551198 -- 153,591,789(+) CACCC(A/G)CTTTG 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

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

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, GeneTests, Orphanet, DISEASES, and GeneCards

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


  • 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:
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 64
  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 4 64
  3. STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. (PMID: 27104747) Guen V.J. … Colas P. (Cell Cycle 2016) 2 3 64
  4. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. (PMID: 28322501) Boczek N.J. … Lanpher B.C. (Am. J. Med. Genet. A 2017) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for FAM58A Gene

Sources for FAM58A Gene

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