Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
FAM172A plays an important role in the regulation of cotranscriptional alternative splicing by interacting with Ago2 (Argonaute-2) and Chd7. The FAM172A mutant mice display a complex phenotype mimicking both the major and minor features of CHARGE syndrome (CHARGES) []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
141
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
62
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
181
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Bélanger C |
Year: |
2018 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. |
Volume: |
115 |
Issue: |
4 |
Pages: |
E620-E629 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
417
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
371
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
162
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
373
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
425
|
Fragment?: |
true |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, African clawed |
|
•
•
•
•
•
|
Publication |
First Author: |
Bélanger C |
Year: |
2022 |
Journal: |
FASEB J |
Title: |
CHARGE syndrome-associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms. |
Volume: |
36 |
Issue: |
3 |
Pages: |
e22176 |
|
•
•
•
•
•
|
UniProt Feature |
Begin: |
19 |
Description: |
Cotranscriptional regulator FAM172A |
Type: |
chain |
End: |
417 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
307
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
279
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Allele |
Name: |
ARB2 cotranscriptional regulator A; transgene insertion Tp, Nicolas Pilon |
Allele Type: |
Transgenic |
Attribute String: |
Hypomorph, Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Arb2a/Arb2a<+> |
Background: |
involves: FVB/N |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Arb2a/Arb2a |
Background: |
involves: FVB/N |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Chd7/Chd7<+> Arb2a/Arb2a<+> |
Background: |
involves: 129S4/SvJaeSor * C57BL/6 * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Arb2a/Arb2a Gata4/Gata4<+> |
Background: |
involves: 129S1/Sv * 129X1/SvJ * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huttlin EL |
Year: |
2010 |
Journal: |
Cell |
Title: |
A tissue-specific atlas of mouse protein phosphorylation and expression. |
Volume: |
143 |
Issue: |
7 |
Pages: |
1174-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Church DM |
Year: |
2009 |
Journal: |
PLoS Biol |
Title: |
Lineage-specific biology revealed by a finished genome assembly of the mouse. |
Volume: |
7 |
Issue: |
5 |
Pages: |
e1000112 |
|
•
•
•
•
•
|