ACTN4 (actinin alpha 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 81
Gene name Actinin alpha 4
Gene symbol ACTN4
Synonyms (NCBI Gene)
ACTININ-4FSGSFSGS1
Chromosome 19
Chromosome location 19q13.2
Summary 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
SNPs SNP information provided by dbSNP.
1
Gene SNPs Transcription factors Other IDs Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs759055242 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
685
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (685)
miRTarBase ID miRNA Experiments Reference
MIRT023681 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT051940 hsa-let-7b-5p CLASH 23622248
MIRT051747 hsa-let-7c-5p CLASH 23622248
MIRT051105 hsa-miR-16-5p CLASH 23622248
MIRT050392 hsa-miR-23a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs Transcription factors Other IDs Associated diseases
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Transcription factor Regulation Reference
HDAC7 Repression 16980305
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (64)
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 25411248
GO:0001725 Component Stress fiber IEA
GO:0001882 Function Nucleoside binding IDA 12411747
GO:0003713 Function Transcription coactivator activity IMP 22351778, 25411248
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
604638 166 ENSG00000130402
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9508771}.
Sequence 
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWC
NSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIA
SKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKM
LDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEK
LASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQ
KASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQEL
NELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPF
NNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAES
NHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANV
VGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIF
DNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKD
HGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETT
DTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKS
FSTALYGESDL
Sequence length 911
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
277
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACTN4-related disorder Likely pathogenic rs2515210564, rs2515200704 RCV003909778
RCV003983643
Focal segmental glomerulosclerosis 1 Likely pathogenic; Pathogenic rs1968240092, rs121908415, rs121908416, rs121908417, rs878853159, rs2515200645, rs2515200807, rs2515217834, rs1568723797, rs1568725026 RCV001329330
RCV000005753
RCV000005754
RCV000005755
RCV000224984
RCV003225636
RCV003314314
RCV003992067
RCV004555718
RCV000735729
RCV000735654
Show/Hide Unknown Diseases (25)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs140381330 RCV005892777
Adrenocortical carcinoma, hereditary Benign; Likely benign rs140381330 RCV005892781
Cervical cancer Benign; Likely benign rs140381330 RCV005892782
Cholangiocarcinoma Benign; Likely benign rs140381330 RCV005892791
Show/Hide Text Mining Associations (68)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Clear Cell Associate 19151661
Adenocarcinoma of Lung Associate 23899839, 34845792, 38517776
Albuminuria Associate 24103534
Arrhythmogenic Right Ventricular Dysplasia Associate 27613243
Brain Neoplasms Stimulate 25885339
Breast Neoplasms Associate 17052974, 17873890, 21078666, 30258071, 32265507, 9508771
Breast Neoplasms Stimulate 31054253
Burkitt Lymphoma Associate 27155012
Carcinogenesis Associate 17151021
Carcinoma Non Small Cell Lung Associate 25299231, 29251177, 36476259