Details for: ACTN4

Gene ID: 81

Symbol: ACTN4

Ensembl ID: ENSG00000130402

Description: actinin alpha 4

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.94
    Marker Score: 87763
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 3.95
    Marker Score: 3769
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 3.92
    Marker Score: 3383
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 3.7
    Marker Score: 15410.5
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 3.5
    Marker Score: 17171.5
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 3.04
    Marker Score: 9548
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 3.03
    Marker Score: 2153
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.96
    Marker Score: 7217.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.89
    Marker Score: 3042.5
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.83
    Marker Score: 5979
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 2.82
    Marker Score: 17960
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.76
    Marker Score: 5319
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.71
    Marker Score: 5950
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 2.58
    Marker Score: 1754
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.57
    Marker Score: 3323
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.56
    Marker Score: 9073
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.55
    Marker Score: 57055
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.53
    Marker Score: 6381
  • Cell Name: podocyte (CL0000653)
    Fold Change: 2.51
    Marker Score: 928
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.5
    Marker Score: 10470
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.5
    Marker Score: 790
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 2.49
    Marker Score: 1260
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.49
    Marker Score: 11955
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.48
    Marker Score: 1955
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.46
    Marker Score: 85196.5
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 2.44
    Marker Score: 2341
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.43
    Marker Score: 4571
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 2.41
    Marker Score: 6667
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 2.41
    Marker Score: 1702
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.4
    Marker Score: 2568
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 2.4
    Marker Score: 2153
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.4
    Marker Score: 691
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 2.35
    Marker Score: 2530
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.32
    Marker Score: 1384
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 2.3
    Marker Score: 2168
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.29
    Marker Score: 3370
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.29
    Marker Score: 3074
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 2.29
    Marker Score: 1519
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 2.27
    Marker Score: 5769
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.26
    Marker Score: 7395
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 2.24
    Marker Score: 2405
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.21
    Marker Score: 17252
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 2.21
    Marker Score: 2586
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.2
    Marker Score: 5909
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.18
    Marker Score: 16250
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 2.18
    Marker Score: 4349
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 2.18
    Marker Score: 823
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.17
    Marker Score: 1454
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.17
    Marker Score: 3845
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.17
    Marker Score: 538
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 2.15
    Marker Score: 2802
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.15
    Marker Score: 2374
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.15
    Marker Score: 1251
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 2.14
    Marker Score: 1207
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.12
    Marker Score: 18303
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.11
    Marker Score: 1228
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 2.11
    Marker Score: 1387
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 2.11
    Marker Score: 2187
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.09
    Marker Score: 1854
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 2.07
    Marker Score: 3300
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 2.07
    Marker Score: 527
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 2.07
    Marker Score: 3008
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.05
    Marker Score: 4820
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 2.05
    Marker Score: 727
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 2.04
    Marker Score: 1755
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.04
    Marker Score: 3380
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.03
    Marker Score: 486
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.02
    Marker Score: 2864
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 2.02
    Marker Score: 2437
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2
    Marker Score: 2126
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.99
    Marker Score: 1634
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.98
    Marker Score: 856
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.98
    Marker Score: 579
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.97
    Marker Score: 2000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.97
    Marker Score: 566
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 1.96
    Marker Score: 2841
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.96
    Marker Score: 5334
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.94
    Marker Score: 1208.5
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.93
    Marker Score: 2255
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.93
    Marker Score: 1046
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.93
    Marker Score: 619
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.92
    Marker Score: 12514.5
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.91
    Marker Score: 30683
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.91
    Marker Score: 21520
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.91
    Marker Score: 1904
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.91
    Marker Score: 3486
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.91
    Marker Score: 2194
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.9
    Marker Score: 889
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.9
    Marker Score: 2297.5
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.89
    Marker Score: 4492
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.89
    Marker Score: 4284
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.89
    Marker Score: 3032
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.88
    Marker Score: 16330
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.88
    Marker Score: 7232
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.87
    Marker Score: 889
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.87
    Marker Score: 1692
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.87
    Marker Score: 3068
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.86
    Marker Score: 963.5
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.86
    Marker Score: 4442
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 1.85
    Marker Score: 1862

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Other Information

**Key characteristics:** - Acts as a cytoskeletal protein - Involved in cell adhesion, migration, and signaling - Expressed in a variety of cell types - Plays a role in the regulation of platelet aggregation and degranulation **Pathways and functions:** - Acts as an actin binding protein - Regulates intracellular signaling pathways through interactions with various signaling molecules - Involved in cell adhesion and migration - Plays a role in the regulation of platelet aggregation and degranulation **Clinical significance:** - Mutations in ACTN4 have been linked to several human diseases, including atherosclerosis, cancer, and stroke - ACTN4 is a potential therapeutic target for diseases characterized by abnormal cell adhesion and migration - Targeting ACTN4 signaling has been explored as a therapeutic strategy for cancer and cardiovascular diseases **Additional notes:** - ACTN4 is a highly conserved protein with homologs in other species - It is a transmembrane protein with a molecular weight of approximately 140 kDa - It is a key regulator of cell adhesion, migration, and signaling in various tissues

Genular Protein ID: 135020461

Symbol: ACTN4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10656685

Title: The human non-muscle alpha-actinin protein encoded by the ACTN4 gene suppresses tumorigenicity of human neuroblastoma cells.

PubMed ID: 10656685

DOI: 10.1038/sj.onc.1203310

PubMed ID: 22567897

Title: Novel splicing isoform of actin-binding protein alpha-actinin 4 in epidermoid carcinoma cells A431.

PubMed ID: 22567897

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16344560

Title: Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.

PubMed ID: 16344560

DOI: 10.1101/gr.4039406

PubMed ID: 9508771

Title: Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion.

PubMed ID: 9508771

DOI: 10.1083/jcb.140.6.1383

PubMed ID: 12042308

Title: Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.

PubMed ID: 12042308

DOI: 10.1074/jbc.m203072200

PubMed ID: 15772161

Title: CART: an Hrs/actinin-4/BERP/myosin V protein complex required for efficient receptor recycling.

PubMed ID: 15772161

DOI: 10.1091/mbc.e04-11-1014

PubMed ID: 17289661

Title: Molecular composition of IMP1 ribonucleoprotein granules.

PubMed ID: 17289661

DOI: 10.1074/mcp.m600346-mcp200

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33228246

Title: ACTN4 Mediates SEPT14 Mutation-Induced Sperm Head Defects.

PubMed ID: 33228246

DOI: 10.3390/biomedicines8110518

PubMed ID: 15988023

Title: Structural dynamics of alpha-actinin-vinculin interactions.

PubMed ID: 15988023

DOI: 10.1128/mcb.25.14.6112-6122.2005

PubMed ID: 18164029

Title: Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis.

PubMed ID: 18164029

DOI: 10.1016/j.jmb.2007.11.084

PubMed ID: 22351778

Title: Familial focal segmental glomerulosclerosis (FSGS)-linked alpha-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors.

PubMed ID: 22351778

DOI: 10.1074/jbc.m112.345421

PubMed ID: 10700177

Title: Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

PubMed ID: 10700177

DOI: 10.1038/73456

PubMed ID: 18436095

Title: Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.

PubMed ID: 18436095

DOI: 10.1053/j.ajkd.2008.01.018

PubMed ID: 22732337

Title: Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

PubMed ID: 22732337

DOI: 10.5414/cn107320

PubMed ID: 23890478

Title: Mutational analysis of ACTN4, encoding alpha-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method.

PubMed ID: 23890478

PubMed ID: 23014460

Title: Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

PubMed ID: 23014460

DOI: 10.1038/ki.2012.349

Sequence Information:

  • Length: 911
  • Mass: 104854
  • Checksum: 461580C3F22937D1
  • Sequence:
  • MVDYHAANQS YQYGPSSAGN GAGGGGSMGD YMAQEDDWDR DLLLDPAWEK QQRKTFTAWC 
    NSHLRKAGTQ IENIDEDFRD GLKLMLLLEV ISGERLPKPE RGKMRVHKIN NVNKALDFIA 
    SKGVKLVSIG AEEIVDGNAK MTLGMIWTII LRFAIQDISV EETSAKEGLL LWCQRKTAPY 
    KNVNVQNFHI SWKDGLAFNA LIHRHRPELI EYDKLRKDDP VTNLNNAFEV AEKYLDIPKM 
    LDAEDIVNTA RPDEKAIMTY VSSFYHAFSG AQKAETAANR ICKVLAVNQE NEHLMEDYEK 
    LASDLLEWIR RTIPWLEDRV PQKTIQEMQQ KLEDFRDYRR VHKPPKVQEK CQLEINFNTL 
    QTKLRLSNRP AFMPSEGKMV SDINNGWQHL EQAEKGYEEW LLNEIRRLER LDHLAEKFRQ 
    KASIHEAWTD GKEAMLKHRD YETATLSDIK ALIRKHEAFE SDLAAHQDRV EQIAAIAQEL 
    NELDYYDSHN VNTRCQKICD QWDALGSLTH SRREALEKTE KQLEAIDQLH LEYAKRAAPF 
    NNWMESAMED LQDMFIVHTI EEIEGLISAH DQFKSTLPDA DREREAILAI HKEAQRIAES 
    NHIKLSGSNP YTTVTPQIIN SKWEKVQQLV PKRDHALLEE QSKQQSNEHL RRQFASQANV 
    VGPWIQTKME EIGRISIEMN GTLEDQLSHL KQYERSIVDY KPNLDLLEQQ HQLIQEALIF 
    DNKHTNYTME HIRVGWEQLL TTIARTINEV ENQILTRDAK GISQEQMQEF RASFNHFDKD 
    HGGALGPEEF KACLISLGYD VENDRQGEAE FNRIMSLVDP NHSGLVTFQA FIDFMSRETT 
    DTDTADQVIA SFKVLAGDKN FITAEELRRE LPPDQAEYCI ARMAPYQGPD AVPGALDYKS 
    FSTALYGESD L

Genular Protein ID: 2303997419

Symbol: H7C144_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 906
  • Mass: 104327
  • Checksum: 85B7706D09DAFED7
  • Sequence:
  • MVDYHAANQS YQYGPSSAGN GAGGGGSMGD YMAQEDDWDR DLLLDPAWEK QQRKTFTAWC 
    NSHLRKAGTQ IENIDEDFRD GLKLMLLLEV ISGERLPKPE RGKMRVHKIN NVNKALDFIA 
    SKGVKLVSIG AEEIVDGNAK MTLGMIWTII LRFAIQDISV EETSAKEGLL LWCQRKTAPY 
    KNVNVQNFHI SWKDGLAFNA LIHRHRPELI EYDKLRKDDP VTNLNNAFEV AEKYLDIPKM 
    LDAEDIVGTL RPDEKAIMTY VSCFYHAFSG AQKAETAANR ICKVLAVNQE NEHLMEDYEK 
    LASDLLEWIR RTIPWLEDRV PQKTIQEMQQ KLEDFRDYRR VHKPPKVQEK CQLEINFNTL 
    QTKLRLSNRP AFMPSEGKMV SDINNGWQHL EQAEKGYEEW LLNEIRRLER LDHLAEKFRQ 
    KASIHEAWTD GKEAMLKHRD YETATLSDIK ALIRKHEAFE SDLAAHQDRV EQIAAIAQEL 
    NELDYYDSHN VNTRCQKICD QWDALGSLTH SRREALEKTE KQLEAIDQLH LEYAKRAAPF 
    NNWMESAMED LQDMFIVHTI EEIEGLISAH DQFKSTLPDA DREREAILAI HKEAQRIAES 
    NHIKLSGSNP YTTVTPQIIN SKWEKVQQLV PKRDHALLEE QSKQQSNEHL RRQFASQANV 
    VGPWIQTKME EIGRISIEMN GTLEDQLSHL KQYERSIVDY KPNLDLLEQQ HQLIQEALIF 
    DNKHTNYTME HIRVGWEQLL TTIARTINEV ENQILTRDAK GISQEQMQEF RASFNHFDKK 
    QTGSMDSDDF RALLISTGYS LGEAEFNRIM SLVDPNHSGL VTFQAFIDFM SRETTDTDTA 
    DQVIASFKVL AGDKNFITAE ELRRELPPDQ AEYCIARMAP YQGPDAVPGA LDYKSFSTAL 
    YGESDL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.