Details for: ACTG2
Associated with
Other Information
Genular Protein ID: 1564387319
Symbol: ACTH_HUMAN
Name: Actin, gamma-enteric smooth muscle
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2377475
Title: The nucleotide sequence of a human smooth muscle (enteric type) gamma-actin cDNA.
PubMed ID: 2377475
PubMed ID: 1710027
Title: Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes.
PubMed ID: 1710027
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
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: 19015515
Title: Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin.
PubMed ID: 19015515
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 26228148
Title: ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.
PubMed ID: 26228148
PubMed ID: 30626964
Title: SETD3 is an actin histidine methyltransferase that prevents primary dystocia.
PubMed ID: 30626964
PubMed ID: 31993215
Title: Molecular basis for histidine N3-specific methylation of actin H73 by SETD3.
PubMed ID: 31993215
PubMed ID: 22960657
Title: Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.
PubMed ID: 22960657
PubMed ID: 24777424
Title: Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
PubMed ID: 24777424
PubMed ID: 24337657
Title: De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
PubMed ID: 24337657
PubMed ID: 24676022
Title: Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
PubMed ID: 24676022
PubMed ID: 27481187
Title: Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
PubMed ID: 27481187
DOI: 10.1002/ajmg.a.37857
PubMed ID: 26647307
Title: ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
PubMed ID: 26647307
DOI: 10.1093/hmg/ddv497
PubMed ID: 28422808
Title: Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene.
PubMed ID: 28422808
PubMed ID: 29781137
Title: Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
PubMed ID: 29781137
DOI: 10.1111/nmo.13371
PubMed ID: 33294969
Title: Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
PubMed ID: 33294969
DOI: 10.1111/cge.13895
PubMed ID: 33880338
Title: Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction-a case report.
PubMed ID: 33880338
DOI: 10.21037/tp-20-316
Sequence Information:
- Length: 376
- Mass: 41877
- Checksum: 6EC08CD5EEAD445E
- Sequence:
MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ KDSYVGDEAQ SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE EHPTLLTEAP LNPKANREKM TQIMFETFNV PAMYVAIQAV LSLYASGRTT GIVLDSGDGV THNVPIYEGY ALPHAIMRLD LAGRDLTDYL MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS YELPDGQVIT IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK PEYDEAGPSI VHRKCF
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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.