1. Gene
  2. ACTN4 - actinin alpha 4 Gene

ACTN4 - actinin alpha 4 Gene

Homo sapiens

Also known as FSGS; FSGS1; ACTININ-4

Gene ID: 81 | Gene type: protein coding

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 Reference 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
Cellular Component GO Annotation Evidence Reference 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

CH

CH: Calponin homology (CH) domain (54 - 153)

CH

CH: Calponin homology (CH) domain (167 - 268)

Spectrin

Spectrin: Spectrin repeat (293 - 402)

Spectrin

Spectrin: Spectrin repeat (413 - 517)

Spectrin

Spectrin: Spectrin repeat (529 - 639)

Spectrin

Spectrin: Spectrin repeat (649 - 751)

EF-hand_6

EF-hand_6: EF-hand domain (769 - 798)

EFhand_Ca_insen

EFhand_Ca_insen: Ca2+ insensitive EF hand (841 - 907)

  • 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 Reference
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

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

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