.. _FAM58A:

FAM58A
^^^^^^

.. contents::
   :local:

General Information
*******************

:Full gene name: family with sequence similarity 58, member A
:Entrez Gene ID: 92002
:Location: Xq28
:Synonyms: STAR
:Type: protein-coding

User SNPs
*********

SNPs given by the user that are near or inside this gene: 

+-----------+---------------+-----------+
|    SNP    | Distance (bp) | Direction |
+===========+===============+===========+
| rs3020789 |     28355     |  upstream |
+-----------+---------------+-----------+

.. _FAM58A Gene summary:

NCBI Summary
************

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]

.. _OMIM ID 300708
                        : http://omim.org/entry/300708
                        

.. _FAM58A OMIM Text:

OMIM
****

:OMIM ID: `OMIM ID 300708
                        `_

**Allelic Variants (Selected Examples)**

.0001 STAR SYNDROME

In a girl with STAR syndrome (300707) and additional features of lower lid coloboma, epilepsy, and syringomyelia, Unger et al. (2008) found a heterozygous deletion on chromosome Xq28 of approximately 40 kb that removed exons 1 and 2 as well as intron 1, a portion of intron 2, and the 5-prime untranslated region, of the FAM58A gene.

.0002 STAR SYNDROME

In a girl with STAR syndrome (300707), Unger et al. (2008) detected a de novo heterozygous deletion of 4,249 bp which removed 1,265 bp of intron 4, all of exon 5 including the 3-prime untranslated region, and 2,454 bp of 3-prime sequence.

.0003 STAR SYNDROME

In a patient with STAR syndrome (300707), Unger et al. (2008) identified a mutation in the FAM58A gene affecting the splice donor site of intron 4: 555+1G-A.

.0004 STAR SYNDROME

In a girl with STAR syndrome (300707), Unger et al. (2008) identified a frameshift mutation, 201dupT, in the FAM58A gene, which immediately resulted in a premature stop codon (N68XfsX1).

.0005 STAR SYNDROME

In the mother and daughter reported by Green et al. (1996) with STAR syndrome (300707), Unger et al. (2008) found a mutation in the FAM58A gene, 556-1G-A, which altered the splice acceptor site of intron 4.




.. _FAM58A Phenotype:

NCBI Phenotypes
***************

* STAR syndrome
* Gene Reviews
* GTR
* OMIM

.. _FAM58A GO Term:

Gene Ontology
*************

* protein binding
* regulation of cyclin-dependent protein kinase activity
* protein kinase binding
* regulation of transcription, DNA-dependent

.. _FAM58A Pathway:

KEGG Pathways
*************

No pathways found linked to this gene.

.. _FAM58A GeneRIF:

GeneRIFs
********

* Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. [`PMID 18297069`_]

.. _PMID 18297069: http://www.ncbi.nlm.nih.gov/pubmed/18297069

.. _FAM58A Pubmed:

PubMed Articles
***************

*Recent articles:*

* Unger S et al. "Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations." Nat Genet. 2008 Mar;40(3):287-9. `PMID 18297069`_
* Kim JM et al. "Identification of genes related to Parkinson's disease using expressed sequence tags." DNA Res. 2006 Dec 31;13(6):275-86. `PMID 17213182`_
* Mehrle A et al. "The LIFEdb database in 2006." Nucleic Acids Res. 2006 Jan 1;34(Database issue):D415-8. `PMID 16381901`_
* Wiemann S et al. "From ORFeome to biology: a functional genomics pipeline." Genome Res. 2004 Oct;14(10B):2136-44. `PMID 15489336`_
* Strausberg RL et al. "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences." Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. `PMID 12477932`_
* Hartley JL et al. "DNA cloning using in vitro site-specific recombination." Genome Res. 2000 Nov;10(11):1788-95. `PMID 11076863`_

.. _PMID 11076863: http://www.ncbi.nlm.nih.gov/pubmed/11076863
.. _PMID 18297069: http://www.ncbi.nlm.nih.gov/pubmed/18297069
.. _PMID 12477932: http://www.ncbi.nlm.nih.gov/pubmed/12477932
.. _PMID 17213182: http://www.ncbi.nlm.nih.gov/pubmed/17213182
.. _PMID 15489336: http://www.ncbi.nlm.nih.gov/pubmed/15489336
.. _PMID 16381901: http://www.ncbi.nlm.nih.gov/pubmed/16381901