ACTN4 - actinin alpha 4 Gene

Also Known as FSGS; FSGS1; ACTININ-4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81

About ACTN4

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:38,647,649-38,731,589 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 169 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 105.3), kidney (RPKM 104.8) and 25 other tissues.

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 types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]

ACTN4 Products (3)

mRNA	Protein	Name
NM_001322033.2	NP_001308962.1	alpha-actinin-4 isoform 2
NM_001411143.1	NP_001398072.1	alpha-actinin-4 isoform 3
NM_004924.6	NP_004915.2	alpha-actinin-4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	25411248	GOA
enables actin filament binding	IDA IDA: Inferred from direct assay	12411747	GOA
enables actin filament binding	IMP IMP: Inferred from mutant phenotype	25918384	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	25411248	GOA
enables nuclear receptor binding	IPI IPI: Inferred from physical interaction	22351778	GOA
enables nuclear receptor coactivator activity	IMP IMP: Inferred from mutant phenotype	22351778	GOA
enables nuclear retinoic acid receptor binding	IPI IPI: Inferred from physical interaction	22351778	GOA
enables nucleoside binding	IDA IDA: Inferred from direct assay	12411747	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10753915	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	22351778	GOA
enables transcription coactivator activity	IMP IMP: Inferred from mutant phenotype	25411248	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	19943616	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of substrate adhesion-dependent cell spreading	IMP IMP: Inferred from mutant phenotype	25918384	GOA
involved in peroxisome proliferator activated receptor signaling pathway	IDA IDA: Inferred from direct assay	22351778	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	25918384	GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	25411248	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	22351778	GOA
involved in retinoic acid receptor signaling pathway	IDA IDA: Inferred from direct assay	22351778	GOA
involved in tumor necrosis factor-mediated signaling pathway	IDA IDA: Inferred from direct assay	25411248	GOA
involved in vesicle transport along actin filament	IMP IMP: Inferred from mutant phenotype	25918384	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with actin cytoskeleton	IDA IDA: Inferred from direct assay	25918384	GOA
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	15048094	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9508771	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9508771	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15619032	GOA
is active in postsynaptic actin cytoskeleton	IDA IDA: Inferred from direct assay	30123108	GOA
is active in postsynaptic actin cytoskeleton	IMP IMP: Inferred from mutant phenotype	30123108	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	11948184	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	17289661	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTN4 Protein Structure

Spectrin

EF-hand_6

EFhand_Ca_insen

0
200
400
600
800
911 a.a.

Protein Preferred Names	Protein Names
alpha-actinin-4	focal segmental glomerulosclerosis 1

ACTN4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACTN4	O43707	b2r8y4_human	Homo sapiens	B2R8Y4	Validated Y2H	25416956
Intra	ACTN4	O43707	b2r8y4_human	Homo sapiens	B2R8Y4	Y2H Array	25416956
Intra	ACTN4	O43707	LCMT2	Homo sapiens	O60294	Validated Y2H	25910212
Intra	ACTN4	O43707	LCMT2	Homo sapiens	O60294	Y2H Array	25910212
Intra	ACTN4	O43707	LCMT2	Homo sapiens	O60294	Y2H Bait-Prey Pool	25910212
Intra	ACTN4	O43707	SORBS2	Homo sapiens	O94875-10	Y2H Bait-Prey Pool	25910212
Intra	ACTN4	O43707	SORBS2	Homo sapiens	O94875-10	SLC	25910212
Intra	ACTN4	O43707	SORBS2	Homo sapiens	O94875-10	Validated Y2H	25910212
Intra	ACTN4	O43707	SORBS2	Homo sapiens	O94875-10	Y2H Array	25910212
Intra	ACTN4	O43707	MICALL2	Homo sapiens	Q8IY33	Validated Y2H	32296183
Intra	ACTN4	O43707	ACTN3	Homo sapiens	Q08043	Validated Y2H	32296183
Intra	ACTN4	O43707	IQGAP1	Homo sapiens	P46940	Confocal	22662192
Intra	ACTN4	O43707	CTNNB1	Homo sapiens	P35222	Confocal	16204054
Intra	ACTN4	O43707	CTNNB1	Homo sapiens	P35222	Y2H	16204054
Intra	ACTN4	O43707	CTNNB1	Homo sapiens	P35222	Anti Bait CoIP	16204054
Intra	ACTN4	O43707	PDLIM1	Homo sapiens	O00151	Anti Tag CoIP	35271311
Intra	ACTN4	O43707	PDLIM1	Homo sapiens	O00151	Y2H Array	29892012
Intra	ACTN4	O43707	PDLIM1	Homo sapiens	O00151	Y2H Pooling	16189514
Intra	ACTN4	O43707	C14orf119	Homo sapiens	Q9NWQ9	Validated Y2H	32296183
Intra	ACTN4	O43707	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	ACTN4	O43707	MYOZ2	Homo sapiens	Q9NPC6	Y2H Array	26871637
Intra	ACTN4	O43707	MYOZ2	Homo sapiens	Q9NPC6	Y2H Array	25416956
Intra	ACTN4	O43707	MYOZ2	Homo sapiens	Q9NPC6	Validated Y2H	26871637
Intra	ACTN4	O43707	MYOZ2	Homo sapiens	Q9NPC6	Y2H Pooling	16189514
Intra	ACTN4	O43707	MYOZ2	Homo sapiens	Q9NPC6	Validated Y2H	32296183
Intra	ACTN4	O43707	MYOZ2	Homo sapiens	Q9NPC6	Y2H Prey Pooling	26871637
Intra	ACTN4	O43707	MYOZ2	Homo sapiens	Q9NPC6	Y2H Prey Pooling	25416956
Intra	ACTN4	O43707	MEOX2	Homo sapiens	P50222	Validated Y2H	25910212
Intra	ACTN4	O43707	MEOX2	Homo sapiens	P50222	Y2H Bait-Prey Pool	25910212
Intra	ACTN4	O43707	MEOX2	Homo sapiens	P50222	Y2H Array	25910212
Cross	ACTN4	O43707	NP	Influenza A virus	P03466	Anti Bait CoIP	24802111
Cross	ACTN4	O43707	NP	Influenza A virus	Q5L4H4	Anti Tag CoIP	24802111

Cross: Cross-species interaction Intra: Intraspecies interaction

ACTN4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82317	alpha Actinin 4 Antibody (YA2062)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P82317A	alpha Actinin 4 Antibody (YA2062)(PBS only)	WB, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Focal Segmental Glomerulosclerosis 1	FSGS1 Glomerulosclerosis, Focal Segmental, 1 Glomerulosclerosis, Segmental, Focal, Type 1 Segmental Glomerulosclerosis
Genetic Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Genetic Srns Hereditary Steroid-Resistant Nephrotic Syndrome Familial Idiopathic Nephrotic Syndrome Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Frasier Syndrome	FS
Nephrotic Syndrome, Type 1	Finnish Congenital Nephrosis NPHS1 Cnf Finnish Congenital Nephrotic Syndrome Nephrotic Syndrome Type 1 Nephrosis, Congenital Congenital Nephrotic Syndrome Nephrotic Syndrome, Congenital Congenital Nephrotic Syndrome Finnish Type Congenital Nephrotic Syndrome 1 Nephrosis 1, Congenital, Finnish Type Congenital Nephrotic Syndrome, Finnish Type Nephrotic Syndrome 1 Congenital Nephrotic Syndrome Of The Finnish Type
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Barakat Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Hdr Syndrome Nephrosis, Nerve Deafness, And Hypoparathyroidism Hypoparathyroidism, Sensorineural Deafness, And Renal Disease HDR HDRS Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome Nephrosis Nephrotic Syndrome
Oligomeganephronia	Oligomeganephronic Renal Hypoplasia Oligomeganephronic Hypoplasia Of Kidney
Familial Nephrotic Syndrome	Congenital Nephrotic Syndrome Nephrosis, Congenital Finnish Congenital Nephrotic Syndrome
Focal Segmental Glomerulosclerosis 5	FSGS5 Glomerulosclerosis, Focal Segmental, 5 Glomerulosclerosis, Segmental, Focal, Type 5
Focal Segmental Glomerulosclerosis 2	FSGS2 Glomerulosclerosis, Focal Segmental, 2 Glomerulosclerosis, Segmental, Focal, Type 2
Focal Segmental Glomerulosclerosis 6	FSGS6 Glomerulosclerosis, Focal Segmental, 6 Glomerulosclerosis, Segmental, Focal, Type 6
Alstrom Syndrome	ALMS Alström Syndrome Alss Alstrom-Hallgren Syndrome Alstroem Syndrome
Focal Segmental Glomerulosclerosis 7	FSGS7 Glomerulosclerosis, Focal Segmental, 7 Glomerulosclerosis, Focal Segmental, Type 7
Glomerulonephritis	Bright'S Disease
Denys-Drash Syndrome	Drash Syndrome DDS Nephropathy, Wilms Tumor, And Genital Anomalies Wilms Tumor And Pseudohermaphroditism Wilms Tumor And Pseudo- Or True Hermaphroditism Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor Wilms Tumor-Dsd Syndrome Wilms Tumor-Disorder Of Sex Development Syndrome
Lipoid Nephrosis	Minimal Change Disease Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome Idiopathic Minimal Change Nephrotic Syndrome Mcns Minimal Change Glomerulopathy Minimal Change Nephrotic Syndrome Nephrotic Syndrome Minimal Change Nephrosis, Lipoid Glomerulonephritis, Minimal Change Nephrotic Syndrome, Minimal Change
Pierson Syndrome	Microcoria-Congenital Nephrotic Syndrome Microcoria-Congenital Nephrosis Syndrome PIERS Microcoria - Congenital Nephrosis Microcoria - Congenital Nephrotic Syndrome PIERSS
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Autosomal Recessive Alport Syndrome	Alport Syndrome, Recessive Type Alport Syndrome, Autosomal Recessive Alport Syndrome Autosomal Recessive Alport Syndrome Recessive Type Nephropathy And Deafness
Hematuria, Benign Familial	Benign Familial Hematuria BFH Thin Membrane Nephropathy Tmn Thin Basement Membrane Nephropathy Thin-Basement-Membrane Nephropathy Hematuria, Familial Benign Hematuria Benign Familial Hematuria, Benign, Familial Thin Basement Membrane Disease
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-181126	G194-0712	Activator	99.82%	Unkown
HY-RS00226	ACTN4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20360	Actn4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26869	Actn4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ACTN4	RGD	RGD:61816
Canis familiaris	ACTN4	VGNC	VGNC:37550
Macaca mulatta	ACTN4	VGNC	VGNC:69432
Felis catus	ACTN4	VGNC	VGNC:59553
Bos taurus	ACTN4	VGNC	VGNC:25583
Mus musculus	ACTN4	MGD	MGI:1890773
Others	ACTN4	NCBI