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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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|
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.
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|
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 |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
|
Carcinoma |
Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
12376462 |
Focal segmental glomerulosclerosis |
Focal segmental glomerulosclerosis 1 |
rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818 |
10700177, 16251236, 22351778, 29043128, 23890478, 23014460, 18164029, 18436095, 22732337 |
Hyperlipidemia |
Hyperlipidemia |
rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075 |
|
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anaplastic carcinoma |
Anaplastic carcinoma |
|
12376462 |
Genetic steroid-resistant nephrotic syndrome |
Genetic steroid-resistant nephrotic syndrome |
|
|
Glomerular hyalinosis |
Hyalinosis, Segmental Glomerular |
|
|
Glomerulosclerosis |
Focal glomerulosclerosis |
|
|
Hypoalbuminemia |
Hypoalbuminemia |
|
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Nephritis |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE |
|
10700177 |
|
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