Gene: TFAP2A-AS2

Alternate names for this Gene: HIPSTR

Gene Summary: The product of this intronless gene is a capped lncRNA that is nuclear-enriched and associated with chromatin. The encoded transcript may be involved in the regulation of developmental gene expression in a context-dependent manner, functioning as a repressor in non-pluripotent cells and an activator in pluripotent cells. Transcription of this gene is activated in 8-cell human embryos during the major wave of zygotic genome activation, independently of and prior to the activation of TFAP2A, an overlapping gene found on the opposite strand. Expression of this gene is characterized by high cell-to-cell variability in the cells of totipotent human embryos and in stable cell lines.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.3

Description of this Gene: TFAP2A antisense RNA 2

Type of Gene: ncRNA

Gene: TFAP2A

Alternate names for this Gene: AP-2|AP-2alpha|AP2TF|BOFS|TFAP2

Gene Summary: The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.3

Description of this Gene: transcription factor AP-2 alpha

Type of Gene: protein-coding

rs121909574 in TFAP2A-AS2;TFAP2A gene and Abnormality of the middle ear ossicles PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs793888540 in TFAP2A-AS2;TFAP2A gene and Abnormality of upper lip PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs793888541 in TFAP2A-AS2;TFAP2A gene and Atresia of the external auditory canal PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Branchial anomaly PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Branchio-Oculo-Facial Syndrome PMID 18423521 2008 TFAP2A mutations result in branchio-oculo-facial syndrome.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Cleft palate, isolated PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Cleft upper lip PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs793888540 in TFAP2A-AS2;TFAP2A gene and Coloboma of optic disc PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Coloboma of the Retina PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Conductive hearing loss, bilateral PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Dilatated internal auditory canal PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Dysmorphic features PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

rs793888540 in TFAP2A-AS2;TFAP2A gene and Ectopic lacrimal punctum PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Long narrow head PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs793888540 in TFAP2A-AS2;TFAP2A gene and Low posterior hairline PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs793888541 in TFAP2A-AS2;TFAP2A gene and Low set ears PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Multiple congenital anomalies PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

rs793888540 in TFAP2A-AS2;TFAP2A gene and Premature canities PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Stenosis of nasolacrimal duct PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Strabismus PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs793888540 in TFAP2A-AS2;TFAP2A gene and Unilateral conductive hearing impairment PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.