| 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: |
62
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
181
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
141
 |
| 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: |
Sallis S |
| Year: |
2023 |
| Journal: |
Life Sci Alliance |
| Title: |
The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import. |
| Volume: |
6 |
| Issue: |
8 |
|
|
•
•
•
•
•
|
| UniProt Feature |
| Begin: |
19 |
| Description: |
Cotranscriptional regulator FAM172A |
| Type: |
chain |
| End: |
417 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|