Details for: ACTN3

Gene ID: 89

Symbol: ACTN3

Ensembl ID: ENSG00000248746

Description: actinin alpha 3

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: neuroendocrine cell (CL0000165)
    Fold Change: 4.64
    Marker Score: 1805
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.68
    Marker Score: 981
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.63
    Marker Score: 3365
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1176
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 861
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.19
    Marker Score: 492
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.17
    Marker Score: 2215
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7694
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4825
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1.11
    Marker Score: 847
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.11
    Marker Score: 508
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71838
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48062
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 514
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 467
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 378
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5354
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.92
    Marker Score: 330
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.84
    Marker Score: 267
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.77
    Marker Score: 406.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.74
    Marker Score: 427
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 467
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.68
    Marker Score: 10686
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.67
    Marker Score: 1358
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.62
    Marker Score: 223.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.61
    Marker Score: 490
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.56
    Marker Score: 176
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.54
    Marker Score: 175
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.53
    Marker Score: 535
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.52
    Marker Score: 402.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.51
    Marker Score: 160
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.49
    Marker Score: 293
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.47
    Marker Score: 1117
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 281
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.45
    Marker Score: 136
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.44
    Marker Score: 211
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.37
    Marker Score: 164
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.32
    Marker Score: 518
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.3
    Marker Score: 77
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.28
    Marker Score: 124
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.16
    Marker Score: 34
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.14
    Marker Score: 51
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.13
    Marker Score: 102
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.12
    Marker Score: 195
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.12
    Marker Score: 115
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.11
    Marker Score: 281
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.11
    Marker Score: 37
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.11
    Marker Score: 38
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.1
    Marker Score: 55
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.09
    Marker Score: 89
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.08
    Marker Score: 227
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 0.07
    Marker Score: 59
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.07
    Marker Score: 120
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.07
    Marker Score: 28
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.07
    Marker Score: 60
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.06
    Marker Score: 40
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.06
    Marker Score: 54
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.06
    Marker Score: 55
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.05
    Marker Score: 12
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.05
    Marker Score: 80
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.05
    Marker Score: 52
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.05
    Marker Score: 12
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.05
    Marker Score: 42
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.05
    Marker Score: 13
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.04
    Marker Score: 12
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.04
    Marker Score: 47
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.04
    Marker Score: 65
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.04
    Marker Score: 47
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.04
    Marker Score: 27
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.04
    Marker Score: 20
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.04
    Marker Score: 35
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.04
    Marker Score: 10
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.04
    Marker Score: 64
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.04
    Marker Score: 50
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.04
    Marker Score: 19
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.04
    Marker Score: 45
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.04
    Marker Score: 13
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.03
    Marker Score: 11
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.03
    Marker Score: 10
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.03
    Marker Score: 14
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.03
    Marker Score: 12
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.03
    Marker Score: 22
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.03
    Marker Score: 13
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.03
    Marker Score: 20
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.03
    Marker Score: 55
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.03
    Marker Score: 13
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.03
    Marker Score: 12
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.03
    Marker Score: 17

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Other Information

**Key characteristics:** - ACTN3 is a large protein (641 amino acids) that is expressed in many cell types. - It is a member of the actinin family of cytoskeletal proteins, which are responsible for the structural integrity and function of the cytoskeleton. - ACTN3 is a major component of the contractile apparatus of muscle cells. - It is also involved in cell adhesion, cell migration, and signaling pathways. **Pathways and functions:** - ACTN3 is involved in a variety of cellular processes, including muscle contraction, cell adhesion, and cell migration. - In muscle cells, ACTN3 is essential for the assembly and maintenance of stress fibers, which are responsible for transmitting mechanical signals from the cytoskeleton to the myosin head group. - ACTN3 also plays a role in the regulation of muscle contraction. - It is a key regulator of skeletal muscle fiber type, with high levels of ACTN3 mRNA and protein in fast-twitch skeletal muscle fibers. **Clinical significance:** - Mutations in the ACTN3 gene have been linked to a number of human diseases, including skeletal muscle atrophy, cardiomyopathy, and vascular disease. - These diseases are characterized by a loss of muscle mass and strength, which is often caused by mutations in genes involved in muscle growth and differentiation. - ACTN3 is a promising target for the treatment of these diseases, as it is a common genetic risk factor for muscle disorders. **Additional notes:** - ACTN3 is a highly conserved protein, with a similar sequence in mammals, birds, and reptiles. - It is a transmembrane protein that is expressed in both cytoplasmic and extracellular compartments of cells. - ACTN3 is a regulated protein, with its expression being controlled by a variety of factors, including growth factors, cytokines, and hormones.

Genular Protein ID: 1992642968

Symbol: ACTN3_HUMAN

Name: Alpha-actinin-3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1339456

Title: Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

PubMed ID: 1339456

DOI: 10.1016/s0021-9258(19)50420-3

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 11440986

Title: Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

PubMed ID: 11440986

DOI: 10.1093/hmg/10.13.1335

PubMed ID: 11171996

Title: Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.

PubMed ID: 11171996

DOI: 10.1073/pnas.98.4.1595

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 15808860

Title: The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin.

PubMed ID: 15808860

DOI: 10.1016/j.jmb.2005.01.002

PubMed ID: 10192379

Title: A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

PubMed ID: 10192379

DOI: 10.1038/7675

Sequence Information:

  • Length: 901
  • Mass: 103241
  • Checksum: C49B7885E7E1EDA7
  • Sequence:
  • MMMVMQPEGL GAGEGRFAGG GGGGEYMEQE EDWDRDLLLD PAWEKQQRKT FTAWCNSHLR 
    KAGTQIENIE EDFRNGLKLM LLLEVISGER LPRPDKGKMR FHKIANVNKA LDFIASKGVK 
    LVSIGAEEIV DGNLKMTLGM IWTIILRFAI QDISVEETSA KEGLLLWCQR KTAPYRNVNV 
    QNFHTSWKDG LALCALIHRH RPDLIDYAKL RKDDPIGNLN TAFEVAEKYL DIPKMLDAED 
    IVNTPKPDEK AIMTYVSCFY HAFAGAEQAE TAANRICKVL AVNQENEKLM EEYEKLASEL 
    LEWIRRTVPW LENRVGEPSM SAMQRKLEDF RDYRRLHKPP RIQEKCQLEI NFNTLQTKLR 
    LSHRPAFMPS EGKLVSDIAN AWRGLEQVEK GYEDWLLSEI RRLQRLQHLA EKFRQKASLH 
    EAWTRGKEEM LSQRDYDSAL LQEVRALLRR HEAFESDLAA HQDRVEHIAA LAQELNELDY 
    HEAASVNSRC QAICDQWDNL GTLTQKRRDA LERMEKLLET IDRLQLEFAR RAAPFNNWLD 
    GAVEDLQDVW LVHSVEETQS LLTAHDQFKA TLPEADRERG AIMGIQGEIQ KICQTYGLRP 
    CSTNPYITLS PQDINTKWDM VRKLVPSCDQ TLQEELARQQ VNERLRRQFA AQANAIGPWI 
    QAKVEEVGRL AAGLAGSLEE QMAGLRQQEQ NIINYKTNID RLEGDHQLLQ ESLVFDNKHT 
    VYSMEHIRVG WEQLLTSIAR TINEVENQVL TRDAKGLSQE QLNEFRASFN HFDRKQNGMM 
    EPDDFRACLI SMGYDLGEVE FARIMTMVDP NAAGVVTFQA FIDFMTRETA ETDTTEQVVA 
    SFKILAGDKN YITPEELRRE LPAKQAEYCI RRMVPYKGSG APAGALDYVA FSSALYGESD 
    L

Genular Protein ID: 148560350

Symbol: B4DZQ2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 944
  • Mass: 107654
  • Checksum: 481D5878716F7DAF
  • Sequence:
  • MGIGLCVPPA RCWKRLTRSS RGQPLERPAA TIIIGLSIVE RSKQTQRGPV DFSRSHSAPA 
    AEQECKPRIS AARSTPAPPS PAVPGFRTTP CQTFTAWCNS HLRKAGTQIE NIEEDFRNGL 
    KLMLLLEVIS GERLPRPDKG KMRFHKIANV NKALDFIASK GVKLVSIGAE EIVDGNLKMT 
    LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNVQNFHTSW KDGLALCALI 
    HRHRPDLIDY AKLRKDDPIG NLNTAFEVAE KYLDIPKMLD AEDIVNTPKP DEKAIMTYVS 
    CFYHAFAGAE QAETAANRIC KVLAVNQENE KLMEEYEKLA SELLEWIRRT VPWLENRVGE 
    PSMSAMQRKL EDFRDYRRLH KPPRIQEKCQ LEINFNTLQT KLRLSHRPAF MPSEGKLVSD 
    IANAWRGLEQ VEKGYEDWLL SEIRRLQRLQ HLAEKFRQKA SLHEAWTRGK EEMLSQRDYD 
    SALLQEVRAL LRRHEAFESD LAAHQDRVEH IAALAQELNE LDYHEAASVN SRCQAICDQW 
    DNLGTLTQKR RDALERMEKL LETIDQLQLE FARQAAPFNN WLDGAVEDLQ DVWLVHSVEE 
    TQSLLTAHDQ FKATLPEADR ERGAIMGIQG EIQKICQTYG LRPCSTNPYI TLSPQDINTK 
    WDMVRKLVPS RDQTLQEELA RQQVNERLRR QFAAQANAIG PWIQAKVEEV GRLAAGLAGS 
    LEEQMAGLRQ QEQNIINYKT NIDRLEGDHQ LLQESLVFDN KHTVYSMEHI RVGWEQLLTS 
    IARTINEVEN QVLTRDAKGL SQEQLNEFRA SFNHFDRKRN GMMEPDDFRA CLISMGYDLG 
    EVEFARIMTM VDPNAAGVVT FQAFIDFMTR ETAETDTTEQ VVASFKILAG DKNYITPEEL 
    RRELPAKQAE YCIRRMVPYK GSGAPAGALD YVAFSSALYG ESDL

Genular Protein ID: 2684242458

Symbol: A0A087WSZ2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

Sequence Information:

  • Length: 944
  • Mass: 107629
  • Checksum: D8A7BE9FA569BD3D
  • Sequence:
  • MGIGLCVPPA RCWKRLTRSS RGQPLERPAA TIIIGLSIVE RSKQTQRGPV DFSRSHSAPA 
    AEQECKPRIS AARSTPAPPS PAVPGFRTTP CQTFTAWCNS HLRKAGTQIE NIEEDFRNGL 
    KLMLLLEVIS GERLPRPDKG KMRFHKIANV NKALDFIASK GVKLVSIGAE EIVDGNLKMT 
    LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNVQNFHTSW KDGLALCALI 
    HRHRPDLIDY AKLRKDDPIG NLNTAFEVAE KYLDIPKMLD AEDIVNTPKP DEKAIMTYVS 
    CFYHAFAGAE QAETAANRIC KVLAVNQENE KLMEEYEKLA SELLEWIRRT VPWLENRVGE 
    PSMSAMQRKL EDFRDYRRLH KPPRIQEKCQ LEINFNTLQT KLRLSHRPAF MPSEGKLVSD 
    IANAWRGLEQ VEKGYEDWLL SEIRRLQRLQ HLAEKFRQKA SLHEAWTRGK EEMLSQRDYD 
    SALLQEVRAL LRRHEAFESD LAAHQDRVEH IAALAQELNE LDYHEAASVN SRCQAICDQW 
    DNLGTLTQKR RDALERMEKL LETIDRLQLE FARRAAPFNN WLDGAVEDLQ DVWLVHSVEE 
    TQSLLTAHDQ FKATLPEADR ERGAIMGIQG EIQKICQTYG LRPCSTNPYI TLSPQDINTK 
    WDMVRKLVPS CDQTLQEELA RQQVNERLRR QFAAQANAIG PWIQAKVEEV GRLAAGLAGS 
    LEEQMAGLRQ QEQNIINYKT NIDRLEGDHQ LLQESLVFDN KHTVYSMEHI RVGWEQLLTS 
    IARTINEVEN QVLTRDAKGL SQEQLNEFRA SFNHFDRKQN GMMEPDDFRA CLISMGYDLG 
    EVEFARIMTM VDPNAAGVVT FQAFIDFMTR ETAETDTTEQ VVASFKILAG DKNYITPEEL 
    RRELPAKQAE YCIRRMVPYK GSGAPAGALD YVAFSSALYG ESDL

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.