FAM58A Gene
protein-coding GIFtS: 43
GCID: GC0XM152854
|
|
family with sequence similarity 58, member A
| |
Aliases
for FAM58A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Family With Sequence Similarity 58, Member A1 2 | | Cyclin M2 | | STAR2 5 | | Cyclin-M3 | | FLJ216101 | | Cyclin-Related Protein FAM58A2 | | MGC297291 | | Cyclin-M3 |
Export aliases for FAM58A gene to outside databasesPrevious GC identifers: GC0XM152375 GC0XM152506 GC0XM141511 |
Summaries
for FAM58A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FAM58A:
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 domainwhich suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results inmultiple transcript variants encoding distinct isoforms. (provided by RefSeq, Oct 2008)
UniProtKB/Swiss-Prot: FA58A_HUMAN, Q8N1B3Function: May have a role in cell proliferation
|
Genomic Views
for FAM58A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167198.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FAM58A gene promoter:
E2F-4 E2F-3a E2F-5 Lmo2 E2F-2 E47 PPAR-alpha E2F E2F-1 Zic3
Other transcription factors
Search SABiosciences Chromatin IP Primers for FAM58A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM58A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28FAM58A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM152854: view genomic region
(about GC identifiers)
Start:
|
152,853,377 bp from pter |
End:
|
152,865,500 bp from pter |
Size:
|
12,124 bases |
Orientation:
|
minus strand |
|
Proteins
for FAM58A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FA58A_HUMAN, Q8N1B3 (See
protein sequence)Recommended Name: Cyclin-related protein FAM58A Size: 248 amino acids; 28369 Da
Subunit: Interacts with SALL1
Sequence caution: Sequence=AAH01909.4; Type=Erroneous initiation; Sequence=AAH07232.4; Type=Erroneous initiation;Sequence=AAH32121.1; Type=Erroneous initiation; Sequence=AAH71851.1; Type=Erroneous initiation;
Secondary accessions: Q2I380 Q330J9 Q96IU5 Q9BUU1Alternative splicing: 2 isoforms: Q8N1B3-1 Q8N1B3-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for FAM58A: NX_Q8N1B3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N1B3
FAM58A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001124469.1 NP_689487.2
ENSEMBL proteins: ENSP00000412865 ENSP00000402949 ENSP00000466345 ENSP00000384396
Human Recombinant Protein Products:
FAM58A Antibody Products:
Assay Products for FAM58A: |
Protein
Domains /
Families
for FAM58A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FAM58A for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8N1B3ProtoNet protein and cluster: Q8N1B3 UniProtKB/Swiss-Prot: FA58A_HUMAN, Q8N1B3Similarity: Belongs to the cyclin family. Cyclin-like FAM58 subfamily |
Function
for FAM58A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FA58A_HUMAN, Q8N1B3Function: May have a role in cell proliferation
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM58A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM58A (see all 4)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM58A |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
FAM58A for ontologies About GeneDecksing
|
Pathways & Interactions
for FAM58A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM58A
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000079 | regulation of cyclin-dependent protein kinase activity |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- |
FAM58A for ontologies About GeneDecksing
|
Drugs & Compounds
for FAM58A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for FAM58A
Search CenterWatch for drugs/clinical trials and news about FAM58A / FA58A
|
Transcripts
for FAM58A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FAM58A gene (2 alternative transcripts): NM_001130997.1 NM_152274.3 Unigene Cluster for FAM58A: Family with sequence similarity 58, member A Hs.496943 [show with all ESTs]Unigene Representative Sequence: BM47324211 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000370175(uc011myr.2 uc011mys.2) ENST00000470284 ENST00000370173
ENST00000370171 ENST00000276345 ENST00000429336 ENST00000440428 ENST00000428722
ENST00000465867 ENST00000482182 ENST00000406277
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM58A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM58A (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): FAM58A (NM_001130997) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AY445048.1 BC001909.1 BC007232.1 BC032121.2 BC071851.1 DQ323993.1 9 DOTS entries: DT.403010 DT.100754240 DT.97844703 DT.121316730 DT.121316755 DT.95285215 DT.75102854 DT.91764825 DT.95285212 24/149 AceView cDNA sequences (see all 149): BU628409 CA307663 BC071851 AW009759 AW613907 BM785505 BQ052733 AI564254 BE395987 AW079353 CR609517 CF529621 BE378495 AI368788 CF529592 BQ000249 BU685137 CR623450 BM708687 CR604685 CD674841 AI559684 CR591949 CB529466
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for FAM58A About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | - | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for FAM58A
|
Expression
for FAM58A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FAM58A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See FAM58A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM58A
SOURCE GeneReport for Unigene cluster: Hs.496943
SABiosciences Custom PCR Arrays for FAM58A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM58A
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM58A |
Orthologs
for FAM58A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FAM58A gene from 4/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
FAM58A6 |
-- |
70(a) |
1 ↔ 1 |
2(87151499-87161456) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.329442 |
Xenopus laevis transcribed sequence with weak similarity more |
72.39(n) |
|
BJ617355.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
fam58a1 |
family with sequence similarity 58, member A |
64.7(n)
64.09(a) |
|
553650 NM_001020623.1 NP_001018459.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
koko1 |
kokopelli |
54.09(n)
38.21(a) |
|
42215 NM_142464.3 NP_650721.1 |
ENSEMBL Gene Tree for FAM58A (if available)
TreeFam Gene Tree for FAM58A (if available) |
Paralogs
for FAM58A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FAM58A gene
- CCNT22 CCNL22 CCNK2 CCNC2 CCNL12 CCNT12
4 SIMAP similar genes for FAM58A using alignment to 6 protein entries: FA58A_HUMAN (see all proteins):FAM58BP CCNK CCNL2 CCNL1
FAM58A for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for FAM58A
PGOHUM00000250063
|
Genomic Variants
for FAM58A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FAM58A (152853377 - 152865500 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FAM58A: --
Human Gene Mutation Database (HGMD): FAM58A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM58A |
|
Disorders
/ Diseases
for FAM58A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FAM58A for disorders About GeneDecksing
OMIM gene information: 300708
OMIM disorders: 300707
UniProtKB/Swiss-Prot: FA58A_HUMAN, Q8N1B3
Defects in FAM58A are the cause of toe syndactyly, telecanthus, and anogenital and renal malformations (STAR)[MIM:300707]; also known as STAR syndrome or syndactyly with renal and anogenital malformations
5  diseases for FAM58A: About MalaCardssyndactyly star syndrome brachydactyly parkinson's disease
malaria
2 diseases from the University of Copenhagen DISEASES database for FAM58A:Brachydactyly Syndactyly Export disorders for FAM58A gene to outside databases
|
Publications
for FAM58A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FAM58A gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM58A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. (PubMed id 18297069)1, 2, 3 Unger S....Kohlhase J. (2008)
- Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)1 Kim J.M....Kim N.S. (2006)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
- From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)
|
External Searches for FAM58A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FAM58A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FAM58A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FAM58A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FAM58A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for FAM58A gene:
Search GeneIP for patents involving FAM58A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FAM58A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | | Browse OriGene 29mer shRNA kits in GFP-retroviral vector | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM58A | | | OriGene Protein Over-expression Lysate for FAM58A | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FAM58A | | OriGene 3'-UTR Clone for FAM58A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM58A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM58A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAM58A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM58A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM58A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM58A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM58A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM58A |
| |
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| |  |  |  |  | | | | |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM58A |
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