Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Lv LL |
Year: |
2021 |
Journal: |
Cell Death Dis |
Title: |
SAP130 released by damaged tubule drives necroinflammation via miRNA-219c/Mincle signaling in acute kidney injury. |
Volume: |
12 |
Issue: |
10 |
Pages: |
866 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen CH |
Year: |
2024 |
Journal: |
BMC Mol Cell Biol |
Title: |
Sumoylation of SAP130 regulates its interaction with FAF1 as well as its protein stability and transcriptional repressor function. |
Volume: |
25 |
Issue: |
1 |
Pages: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamasaki S |
Year: |
2008 |
Journal: |
Nat Immunol |
Title: |
Mincle is an ITAM-coupled activating receptor that senses damaged cells. |
Volume: |
9 |
Issue: |
10 |
Pages: |
1179-88 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wilson RL |
Year: |
2022 |
Journal: |
Placenta |
Title: |
Placental and fetal characteristics of the Ohia mouse line recapitulate outcomes in human hypoplastic left heart syndrome. |
Volume: |
117 |
|
Pages: |
131-138 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
115
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu X |
Year: |
2017 |
Journal: |
Nat Genet |
Title: |
The complex genetics of hypoplastic left heart syndrome. |
Volume: |
49 |
Issue: |
7 |
Pages: |
1152-1159 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yagi H |
Year: |
2018 |
Journal: |
Pediatr Cardiol |
Title: |
The Genetic Landscape of Hypoplastic Left Heart Syndrome. |
Volume: |
39 |
Issue: |
6 |
Pages: |
1069-1081 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gabriel GC |
Year: |
2025 |
Journal: |
Nat Commun |
Title: |
Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease. |
Volume: |
16 |
Issue: |
1 |
Pages: |
469 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim JW |
Year: |
2018 |
Journal: |
Am J Pathol |
Title: |
Spliceosome-Associated Protein 130 Exacerbates Alcohol-Induced Liver Injury by Inducing NLRP3 Inflammasome-Mediated IL-1β in Mice. |
Volume: |
188 |
Issue: |
4 |
Pages: |
967-980 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Publication |
First Author: |
Williams K |
Year: |
2011 |
Journal: |
Nature |
Title: |
TET1 and hydroxymethylcytosine in transcription and DNA methylation fidelity. |
Volume: |
473 |
Issue: |
7347 |
Pages: |
343-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim S |
Year: |
2009 |
Journal: |
Biol Psychiatry |
Title: |
An E3 ubiquitin ligase, Really Interesting New Gene (RING) Finger 41, is a candidate gene for anxiety-like behavior and beta-carboline-induced seizures. |
Volume: |
65 |
Issue: |
5 |
Pages: |
425-31 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang Y |
Year: |
1998 |
Journal: |
Mol Cell |
Title: |
SAP30, a novel protein conserved between human and yeast, is a component of a histone deacetylase complex. |
Volume: |
1 |
Issue: |
7 |
Pages: |
1021-31 |
|
•
•
•
•
•
|
Publication |
First Author: |
Streubel G |
Year: |
2017 |
Journal: |
EMBO J |
Title: |
Fam60a defines a variant Sin3a-Hdac complex in embryonic stem cells required for self-renewal. |
Volume: |
36 |
Issue: |
15 |
Pages: |
2216-2232 |
|
•
•
•
•
•
|
Publication |
First Author: |
Muñoz IM |
Year: |
2012 |
Journal: |
J Biol Chem |
Title: |
Family with sequence similarity 60A (FAM60A) protein is a cell cycle-fluctuating regulator of the SIN3-HDAC1 histone deacetylase complex. |
Volume: |
287 |
Issue: |
39 |
Pages: |
32346-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Smith KT |
Year: |
2012 |
Journal: |
Mol Cell Proteomics |
Title: |
Human family with sequence similarity 60 member A (FAM60A) protein: a new subunit of the Sin3 deacetylase complex. |
Volume: |
11 |
Issue: |
12 |
Pages: |
1815-28 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang B |
Year: |
2011 |
Journal: |
Development |
Title: |
Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development. |
Volume: |
138 |
Issue: |
20 |
Pages: |
4487-97 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1057
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1056
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1057
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Kannan M |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. |
Volume: |
114 |
Issue: |
44 |
Pages: |
E9308-E9317 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP) |
Year: |
2011 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ingham NJ |
Year: |
2019 |
Journal: |
PLoS Biol |
Title: |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. |
Volume: |
17 |
Issue: |
4 |
Pages: |
e3000194 |
|
•
•
•
•
•
|
Publication |
First Author: |
University of California, Davis |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the University of California, Davis |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9918-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Friedel RH |
Year: |
2007 |
Journal: |
Brief Funct Genomic Proteomic |
Title: |
EUCOMM--the European conditional mouse mutagenesis program. |
Volume: |
6 |
Issue: |
3 |
Pages: |
180-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
UniProt Feature |
Begin: |
1 |
Description: |
Histone deacetylase complex subunit SAP130 |
Type: |
chain |
End: |
1057 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Histone acetylation plays a key role in the regulation of gene expression. The chromatin structure and accessibility of genes to transcription factors isregulated by enzymes that acetylate and deacetylate histones. The Sin3A-histone deacetylase (HDAC) co-repressor complex consists of multiple proteins and regulates gene expression by deacetylating histones.SAP130 (Sin3-associated protein 130) is a component of the histone deacetylase-dependent co-repressor complex mSin3A that acts as a transcriptional repressor. It may function in the assembly and/or enzymatic activity of mSin3A or in mediating interactions between the complex and other regulatory complexes []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
879
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
348
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
60
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Fleischer TC |
Year: |
2003 |
Journal: |
Mol Cell Biol |
Title: |
Identification and characterization of three new components of the mSin3A corepressor complex. |
Volume: |
23 |
Issue: |
10 |
Pages: |
3456-67 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Allele |
Name: |
Mutant line 635; Bench to Bassinet Program (B2B/CVDC), mutation 635 Cecilia Lo |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
SAP130 (Sin3-associated protein 130) is a component of the histone deacetylase-dependent co-repressor complex mSin3A that acts as a transcriptional repressor. It may function in the assembly and/or enzymatic activity of mSin3A or in mediating interactions between the complex and other regulatory complexes [].This entry represents the C-terminal domain of SAP130. |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, chemically induced mutation, mutant strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
chemically induced mutation, coisogenic, mutant strain |
|
•
•
•
•
•
|
Allele |
Name: |
protocadherin alpha 9; Bench to Bassinet Program (B2B/CVDC), mutation 635.1 Cecilia Lo |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
|
•
•
•
•
•
|
Genotype |
Symbol: |
b2b635Clo/b2b635Clo |
Background: |
C57BL/6J-b2b635Clo |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, chemically induced mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Teekakirikul P |
Year: |
2021 |
Journal: |
HGG Adv |
Title: |
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. |
Volume: |
2 |
Issue: |
3 |
|
|
•
•
•
•
•
|
Allele |
Name: |
Sin3A associated protein; Bench to Bassinet Program (B2B/CVDC), mutation 635.2 Cecilia Lo |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Hypomorph, Modified isoform(s) |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Pcdha9/Pcdha9 |
Background: |
C57BL/6J-Pcdha9 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
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Strain |
Attribute String: |
mutant strain, chemically induced mutation, coisogenic |
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Genotype |
Symbol: |
Sap130/Sap130 |
Background: |
C57BL/6J-Sap130 Pcdha9 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
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