Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
81 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Actinin alpha 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ACTN4 |
SynonymsGene synonyms aliases
|
ACTININ-4, FSGS, FSGS1 |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell type |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs759055242 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
HDAC7 |
Repression |
16980305 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000977 |
Function |
RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA |
25411248 |
GO:0001666 |
Process |
Response to hypoxia |
IEA |
|
GO:0001725 |
Component |
Stress fiber |
IEA |
|
GO:0001882 |
Function |
Nucleoside binding |
IDA |
12411747 |
GO:0002576 |
Process |
Platelet degranulation |
TAS |
|
GO:0003713 |
Function |
Transcription coactivator activity |
IMP |
25411248 |
GO:0003723 |
Function |
RNA binding |
HDA |
22658674 |
GO:0003779 |
Function |
Actin binding |
TAS |
8104223 |
GO:0005178 |
Function |
Integrin binding |
TAS |
8104223 |
GO:0005509 |
Function |
Calcium ion binding |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
10753915, 15619032, 15841212, 15988023, 16189514, 16204054, 16944923, 19447967, 22351778, 22662192, 24802111, 25241761, 25411248, 25416956, 25910212, 26496610, 26871637, 28514442, 29892012, 32296183 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
HDA |
16502470 |
GO:0005634 |
Component |
Nucleus |
IDA |
9508771, 22351778, 25411248 |
GO:0005737 |
Component |
Cytoplasm |
HDA |
16791210 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
9508771, 22351778, 25411248 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005925 |
Component |
Focal adhesion |
HDA |
21423176 |
GO:0015031 |
Process |
Protein transport |
IEA |
|
GO:0015629 |
Component |
Actin cytoskeleton |
IDA |
25918384 |
GO:0016604 |
Component |
Nuclear body |
IDA |
|
GO:0030050 |
Process |
Vesicle transport along actin filament |
IMP |
25918384 |
GO:0030335 |
Process |
Positive regulation of cell migration |
IMP |
25918384 |
GO:0030374 |
Function |
Nuclear receptor coactivator activity |
IMP |
22351778 |
GO:0031093 |
Component |
Platelet alpha granule lumen |
TAS |
|
GO:0031143 |
Component |
Pseudopodium |
TAS |
1629252 |
GO:0031490 |
Function |
Chromatin DNA binding |
IDA |
25411248 |
GO:0032417 |
Process |
Positive regulation of sodium:proton antiporter activity |
NAS |
11948184 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
11948184 |
GO:0033209 |
Process |
Tumor necrosis factor-mediated signaling pathway |
IDA |
25411248 |
GO:0035257 |
Function |
Nuclear hormone receptor binding |
IPI |
22351778 |
GO:0035357 |
Process |
Peroxisome proliferator activated receptor signaling pathway |
IDA |
22351778 |
GO:0042803 |
Function |
Protein homodimerization activity |
IPI |
22351778 |
GO:0042974 |
Function |
Retinoic acid receptor binding |
IPI |
22351778 |
GO:0042981 |
Process |
Regulation of apoptotic process |
NAS |
16807302 |
GO:0043005 |
Component |
Neuron projection |
IEA |
|
GO:0044325 |
Function |
Ion channel binding |
IPI |
19943616 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IEA |
|
GO:0047485 |
Function |
Protein N-terminus binding |
IEA |
|
GO:0048384 |
Process |
Retinoic acid receptor signaling pathway |
IDA |
22351778 |
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
15619032 |
GO:0051015 |
Function |
Actin filament binding |
IDA |
12411747 |
GO:0051015 |
Function |
Actin filament binding |
IMP |
25918384 |
GO:0051272 |
Process |
Positive regulation of cellular component movement |
IDA |
9508771 |
GO:0051272 |
Process |
Positive regulation of cellular component movement |
IMP |
15048094 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19199708, 20458337, 21362503, 23533145 |
GO:1900025 |
Process |
Negative regulation of substrate adhesion-dependent cell spreading |
IMP |
25918384 |
GO:1901224 |
Process |
Positive regulation of NIK/NF-kappaB signaling |
IMP |
25411248 |
GO:1903506 |
Process |
Regulation of nucleic acid-templated transcription |
IMP |
22351778 |
GO:1990904 |
Component |
Ribonucleoprotein complex |
IDA |
17289661 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O43707 |
Protein name |
Alpha-actinin-4 (Non-muscle alpha-actinin 4) |
Protein function |
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART comple |
PDB |
1WLX
,
1YDI
,
2R0O
,
6O31
,
6OA6
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00307 |
CH |
50 → 155 |
Calponin homology (CH) domain |
Domain |
PF00307 |
CH |
163 → 270 |
Calponin homology (CH) domain |
Domain |
PF00435 |
Spectrin |
293 → 403 |
Spectrin repeat |
Domain |
PF00435 |
Spectrin |
413 → 518 |
Spectrin repeat |
Domain |
PF00435 |
Spectrin |
528 → 639 |
Spectrin repeat |
Domain |
PF00435 |
Spectrin |
649 → 752 |
Spectrin repeat |
Domain |
PF08726 |
EFhand_Ca_insen |
841 → 907 |
Ca2+ insensitive EF hand |
Domain |
|
Sequence |
|
Sequence length |
911 |
Interactions |
View interactions |