ACTG2 (actin gamma 2, smooth muscle) - Rat Genome Database

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Gene: ACTG2 (actin gamma 2, smooth muscle) Homo sapiens
Analyze
Symbol: ACTG2
Name: actin gamma 2, smooth muscle
RGD ID: 737318
HGNC Page HGNC:145
Description: Predicted to enable ATP binding activity and hydrolase activity. Predicted to be involved in mesenchyme migration and positive regulation of gene expression. Located in blood microparticle and extracellular exosome. Implicated in megacystis-microcolon-intestinal hypoperistalsis syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACT; ACTA3; ACTE; actin, gamma 2; actin, gamma 2, smooth muscle, enteric; actin, gamma-enteric smooth muscle; actin-like protein; ACTL3; ACTSG; alpha-actin 3; alpha-actin-3; gamma-2-actin; MMIHS5; smooth muscle gamma actin; smooth muscle gamma-actin; VSCM; VSCM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ACTBP15  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38273,893,008 - 73,919,865 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl273,892,314 - 73,919,865 (+)EnsemblGRCh38hg38GRCh38
GRCh37274,120,135 - 74,146,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,973,601 - 74,000,288 (+)NCBINCBI36Build 36hg18NCBI36
Build 34274,031,789 - 74,058,434NCBI
Celera273,951,347 - 73,978,043 (+)NCBICelera
Cytogenetic Map2p13.1NCBI
HuRef273,854,905 - 73,882,444 (+)NCBIHuRef
CHM1_1274,049,434 - 74,076,040 (+)NCBICHM1_1
T2T-CHM13v2.0273,901,172 - 73,928,327 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-nitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
amitrole  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chromium(6+)  (EXP)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cyclosporin A  (EXP)
DDT  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP,ISO)
dioxygen  (ISO)
diuron  (ISO)
doramapimod  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
fipronil  (ISO)
folic acid  (ISO)
genistein  (EXP)
glyphosate  (ISO)
Heliotrine  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
isoprenaline  (ISO)
ketamine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
losartan  (ISO)
mercaptopurine  (ISO)
mercury dibromide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mitoxantrone  (EXP)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (EXP)
nickel atom  (EXP)
nickel subsulfide  (ISO)
nickel sulfate  (EXP)
nitrofen  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP)
progesterone  (EXP,ISO)
purine-6-thiol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium fluoride  (ISO)
sorafenib  (ISO)
succimer  (EXP)
sulforaphane  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thymoquinone  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
triadimefon  (EXP)
trichloroethene  (ISO)
valproic acid  (EXP,ISO)
XL147  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. [Complex evaluation of the health status indicators of military personnel]. Poliakov LE, etal., Voen Med Zh. 1978 Nov;(11):15-20.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Polski tygodnik lekarski (Warsaw, Poland : 1960) Woyton A Pol Tyg Lek 1978 Aug 7;33(32):1263-4.
Additional References at PubMed
PMID:1540415   PMID:1673027   PMID:1710027   PMID:1907279   PMID:1991513   PMID:2377475   PMID:7759108   PMID:8530021   PMID:8661406   PMID:8892894   PMID:8997639   PMID:9841925  
PMID:9971772   PMID:10049817   PMID:10074138   PMID:10556093   PMID:10655297   PMID:11709093   PMID:12009869   PMID:12450213   PMID:12477932   PMID:12612070   PMID:12670476   PMID:12777385  
PMID:14627618   PMID:14694110   PMID:14702039   PMID:15489334   PMID:15703204   PMID:15815621   PMID:15862967   PMID:16526095   PMID:16824795   PMID:17009076   PMID:17360745   PMID:17411366  
PMID:17504171   PMID:17554369   PMID:17620599   PMID:17934296   PMID:18443296   PMID:18775311   PMID:19639585   PMID:19797053   PMID:19883584   PMID:20147394   PMID:20706999   PMID:20876399  
PMID:20946988   PMID:21203488   PMID:21873635   PMID:21917091   PMID:21923909   PMID:22004035   PMID:22119785   PMID:22465675   PMID:22516433   PMID:22535526   PMID:22640593   PMID:22722757  
PMID:22810585   PMID:22960657   PMID:22989508   PMID:23017337   PMID:23071112   PMID:23246001   PMID:23260110   PMID:23294842   PMID:23533145   PMID:23575248   PMID:23580065   PMID:23811015  
PMID:23875777   PMID:24189400   PMID:24337657   PMID:24667918   PMID:24676022   PMID:24742657   PMID:25110572   PMID:25782675   PMID:25798074   PMID:25963833   PMID:25998219   PMID:26072522  
PMID:26110787   PMID:26647307   PMID:26813947   PMID:27007401   PMID:27107594   PMID:28385530   PMID:28422808   PMID:29072330   PMID:29781137   PMID:29845934   PMID:30885557   PMID:31070878  
PMID:31180492   PMID:31300519   PMID:31324722   PMID:31769566   PMID:31992359   PMID:32433965   PMID:32810037   PMID:32814715   PMID:33294969   PMID:33883208   PMID:33910387   PMID:33961781  
PMID:35575683   PMID:35695198   PMID:36215168   PMID:36509086   PMID:36574265   PMID:36724073   PMID:36929488   PMID:37071682   PMID:37213144   PMID:37317656   PMID:38113892   PMID:38515377  
PMID:38569033   PMID:38820162  


Genomics

Comparative Map Data
ACTG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38273,893,008 - 73,919,865 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl273,892,314 - 73,919,865 (+)EnsemblGRCh38hg38GRCh38
GRCh37274,120,135 - 74,146,992 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,973,601 - 74,000,288 (+)NCBINCBI36Build 36hg18NCBI36
Build 34274,031,789 - 74,058,434NCBI
Celera273,951,347 - 73,978,043 (+)NCBICelera
Cytogenetic Map2p13.1NCBI
HuRef273,854,905 - 73,882,444 (+)NCBIHuRef
CHM1_1274,049,434 - 74,076,040 (+)NCBICHM1_1
T2T-CHM13v2.0273,901,172 - 73,928,327 (+)NCBIT2T-CHM13v2.0
Actg2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39683,489,891 - 83,513,233 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl683,489,887 - 83,513,247 (-)EnsemblGRCm39 Ensembl
GRCm38683,512,909 - 83,536,251 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl683,512,905 - 83,536,265 (-)EnsemblGRCm38mm10GRCm38
MGSCv37683,462,903 - 83,486,245 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36683,478,568 - 83,501,883 (-)NCBIMGSCv36mm8
Celera685,494,063 - 85,517,393 (-)NCBICelera
Cytogenetic Map6C3NCBI
cM Map635.94NCBI
Actg2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84117,579,513 - 117,604,379 (-)NCBIGRCr8
mRatBN7.24116,021,832 - 116,046,475 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4116,021,832 - 116,046,465 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4121,500,276 - 121,514,993 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04117,275,441 - 117,290,158 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04115,889,059 - 115,903,778 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04115,215,160 - 115,239,746 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4115,215,060 - 115,239,723 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04179,805,782 - 179,830,362 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44117,732,482 - 117,747,006NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4105,015,569 - 105,030,100 (-)NCBICelera
Cytogenetic Map4q34NCBI
Actg2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542411,779,597 - 11,802,446 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542411,779,805 - 11,802,446 (-)NCBIChiLan1.0ChiLan1.0
ACTG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21252,464,021 - 52,490,974 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A52,466,775 - 52,493,728 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A73,966,939 - 73,993,862 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A75,476,877 - 75,503,658 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A75,476,877 - 75,503,658 (+)Ensemblpanpan1.1panPan2
ACTG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11749,144,184 - 49,168,872 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1749,104,546 - 49,168,782 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1748,784,850 - 48,810,117 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01750,003,715 - 50,028,411 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1750,003,722 - 50,028,328 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11749,019,875 - 49,044,569 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01749,087,331 - 49,111,998 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01749,645,142 - 49,670,439 (-)NCBIUU_Cfam_GSD_1.0
Actg2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629210,517,808 - 10,563,374 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936556174,602 - 220,285 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936556174,602 - 220,088 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTG2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl369,096,782 - 69,121,351 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1369,097,366 - 69,121,542 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2372,251,872 - 72,257,786 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACTG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11433,363,170 - 33,390,710 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1433,363,023 - 33,390,937 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604578,776,828 - 78,804,281 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Actg2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474929,566,380 - 29,588,705 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474929,566,613 - 29,588,572 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACTG2
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001615.4(ACTG2):c.183C>G (p.Ser61Arg) single nucleotide variant not provided [RCV000723103] Chr2:73902416 [GRCh38]
Chr2:74129543 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) single nucleotide variant Chronic intestinal pseudoobstruction [RCV000210361]|Visceral myopathy 1 [RCV000119266] Chr2:73909130 [GRCh38]
Chr2:74136257 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) single nucleotide variant Inborn genetic diseases [RCV000623686]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535392]|Visceral myopathy 1 [RCV000119267]|not provided [RCV002291561] Chr2:73913566 [GRCh38]
Chr2:74140693 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) single nucleotide variant ACTG2-related disorder [RCV004542869]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535395]|Visceral myopathy 1 [RCV000119268]|not provided [RCV000493883] Chr2:73901429 [GRCh38]
Chr2:74128556 [GRCh37]
Chr2:2p13.1		 pathogenic|likely pathogenic
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) single nucleotide variant ACTG2-related disorder [RCV004529991]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535393]|Visceral myopathy 1 [RCV000119269]|not provided [RCV000326799] Chr2:73913565 [GRCh38]
Chr2:74140692 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) single nucleotide variant Inborn genetic diseases [RCV000190653]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535394]|Visceral myopathy 1 [RCV000119270]|not provided [RCV002460924] Chr2:73913566 [GRCh38]
Chr2:74140693 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) single nucleotide variant Chronic intestinal pseudoobstruction [RCV000851221]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535809]|Visceral myopathy 1 [RCV000119271]|Visceral myopathy 1 [RCV002505051]|Visceral neuropathy, familial, 3, autosomal dominant [RCV000680451]|not provided [RCV001091889] Chr2:73901430 [GRCh38]
Chr2:74128557 [GRCh37]
Chr2:2p13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) single nucleotide variant Chronic intestinal pseudoobstruction [RCV000851220]|Inborn genetic diseases [RCV000190747]|Megacystis [RCV000210354]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535396]|Visceral myopathy 1 [RCV000119272]|Visceral myopathy 1 [RCV002262713]|Visceral neuropathy, familial, 3, autosomal dominant [RCV000680452]|not provided [RCV000413107] Chr2:73914835 [GRCh38]
Chr2:74141962 [GRCh37]
Chr2:2p13.1		 pathogenic
ACTG2, PHE110LEU single nucleotide variant Megaduodenum and/or megacystis [RCV000119273]|Visceral myopathy [RCV000119273]   pathogenic
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535397]|Visceral myopathy 1 [RCV000119274] Chr2:73909088 [GRCh38]
Chr2:74136215 [GRCh37]
Chr2:2p13.1		 pathogenic|likely pathogenic
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) single nucleotide variant Inborn genetic diseases [RCV000190820]|Megacystis [RCV000210360]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535812]|Visceral myopathy 1 [RCV001376053]|not provided [RCV001574649] Chr2:73914836 [GRCh38]
Chr2:74141963 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu) indel Visceral myopathy 1 [RCV000144704] Chr2:73916584..73916585 [GRCh38]
Chr2:74143711..74143712 [GRCh37]
Chr2:2p13.1		 pathogenic
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2		 pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp) single nucleotide variant Visceral myopathy 1 [RCV000202479] Chr2:73913626 [GRCh38]
Chr2:74140753 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) single nucleotide variant Visceral myopathy 1 [RCV000202512] Chr2:73902420 [GRCh38]
Chr2:74129547 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.134T>C (p.Met45Thr) single nucleotide variant Visceral myopathy 1 [RCV000202556] Chr2:73902367 [GRCh38]
Chr2:74129494 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.255+210C>A single nucleotide variant Visceral myopathy 1 [RCV000202559] Chr2:73902698 [GRCh38]
Chr2:74129825 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu) single nucleotide variant Visceral myopathy 1 [RCV000157596] Chr2:73909131 [GRCh38]
Chr2:74136258 [GRCh37]
Chr2:2p13.1		 pathogenic|likely pathogenic
NM_001615.4(ACTG2):c.-6C>T single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001549235]|Visceral myopathy 1 [RCV001548833]|not provided [RCV001655870] Chr2:73901306 [GRCh38]
Chr2:74128433 [GRCh37]
Chr2:2p13.1		 benign
NM_001615.4(ACTG2):c.256-3T>C single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001548834]|Visceral myopathy 1 [RCV001548835]|not provided [RCV004709095] Chr2:73908670 [GRCh38]
Chr2:74135797 [GRCh37]
Chr2:2p13.1		 benign
NM_001615.4(ACTG2):c.113G>A (p.Arg38His) single nucleotide variant Chronic intestinal pseudoobstruction [RCV000210357] Chr2:73901424 [GRCh38]
Chr2:74128551 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr) single nucleotide variant Visceral myopathy 1 [RCV000408625] Chr2:73913646 [GRCh38]
Chr2:74140773 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.588G>T (p.Glu196Asp) single nucleotide variant not provided [RCV000489402] Chr2:73913621 [GRCh38]
Chr2:74140748 [GRCh37]
Chr2:2p13.1		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001615.4(ACTG2):c.67G>A (p.Ala23Thr) single nucleotide variant Visceral myopathy 1 [RCV000585758] Chr2:73901378 [GRCh38]
Chr2:74128505 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.1034C>G (p.Ser345Cys) single nucleotide variant not provided [RCV000522015] Chr2:73919478 [GRCh38]
Chr2:74146605 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.1037T>C (p.Ile346Thr) single nucleotide variant not provided [RCV001760516] Chr2:73919481 [GRCh38]
Chr2:74146608 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.126+5G>A single nucleotide variant not specified [RCV000414397] Chr2:73901442 [GRCh38]
Chr2:74128569 [GRCh37]
Chr2:2p13.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001615.4(ACTG2):c.565T>C (p.Tyr189His) single nucleotide variant not provided [RCV000436324] Chr2:73913598 [GRCh38]
Chr2:74140725 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile) single nucleotide variant ACTG2-related disorder [RCV004529572]|Visceral myopathy 1 [RCV001535811]|not provided [RCV000430933] Chr2:73913617 [GRCh38]
Chr2:74140744 [GRCh37]
Chr2:2p13.1		 pathogenic|uncertain significance
NM_001615.4(ACTG2):c.217G>C (p.Glu73Gln) single nucleotide variant not provided [RCV000423086] Chr2:73902450 [GRCh38]
Chr2:74129577 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.347A>G (p.Asn116Ser) single nucleotide variant not provided [RCV000437539] Chr2:73908764 [GRCh38]
Chr2:74135891 [GRCh37]
Chr2:2p13.1		 likely pathogenic
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001615.4(ACTG2):c.131T>A (p.Val44Glu) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV003314423] Chr2:73902364 [GRCh38]
Chr2:74129491 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) single nucleotide variant ACTG2-related disorder [RCV004527668]|Visceral myopathy 1 [RCV000585773]|not provided [RCV003318602] Chr2:73914698 [GRCh38]
Chr2:74141825 [GRCh37]
Chr2:2p13.1		 pathogenic|likely pathogenic|uncertain significance
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
NM_001615.4(ACTG2):c.-36-12G>C single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001549233]|Visceral myopathy 1 [RCV001549234]|not provided [RCV001725228] Chr2:73901264 [GRCh38]
Chr2:74128391 [GRCh37]
Chr2:2p13.1		 benign
NM_001615.4(ACTG2):c.442C>T (p.Arg148Cys) single nucleotide variant Intestinal obstruction [RCV001533000]|Visceral myopathy 1 [RCV004719163] Chr2:73909130 [GRCh38]
Chr2:74136257 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.246C>T (p.Asp82=) single nucleotide variant ACTG2-related disorder [RCV004530923]|not provided [RCV000884298] Chr2:73902479 [GRCh38]
Chr2:74129606 [GRCh37]
Chr2:2p13.1		 benign|likely benign
NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys) single nucleotide variant Visceral myopathy 1 [RCV000995481] Chr2:73908765 [GRCh38]
Chr2:74135892 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.116C>T (p.Pro39Leu) single nucleotide variant Visceral myopathy 1 [RCV000855535] Chr2:73901427 [GRCh38]
Chr2:74128554 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.255+210C>G single nucleotide variant Visceral myopathy 1 [RCV000855678] Chr2:73902698 [GRCh38]
Chr2:74129825 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001535810]|Visceral myopathy 1 [RCV000855536] Chr2:73902421 [GRCh38]
Chr2:74129548 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.969C>T (p.Pro323=) single nucleotide variant not provided [RCV000883904] Chr2:73916747 [GRCh38]
Chr2:74143874 [GRCh37]
Chr2:2p13.1		 benign
GRCh37/hg19 2p13.1(chr2:74139260-74249457)x3 copy number gain not provided [RCV000849395] Chr2:74139260..74249457 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala) single nucleotide variant Visceral myopathy 1 [RCV000824849] Chr2:73908754 [GRCh38]
Chr2:74135881 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.354A>G (p.Glu118=) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV001548836]|Visceral myopathy 1 [RCV000986777]|not provided [RCV004709012] Chr2:73908771 [GRCh38]
Chr2:74135898 [GRCh37]
Chr2:2p13.1		 benign
NM_001615.4(ACTG2):c.478G>A (p.Val160Ile) single nucleotide variant ACTG2-related disorder [RCV000845077] Chr2:73913511 [GRCh38]
Chr2:74140638 [GRCh37]
Chr2:2p13.1		 not provided
NM_001615.4(ACTG2):c.637A>G (p.Ile213Val) single nucleotide variant not provided [RCV003313537] Chr2:73914703 [GRCh38]
Chr2:74141830 [GRCh37]
Chr2:2p13.1		 uncertain significance
NC_000002.11:g.(?_71004499)_(74779761_?)del deletion Dystonic disorder [RCV003113211]|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]|not provided [RCV003107716] Chr2:71004499..74779761 [GRCh37]
Chr2:2p13.3-13.1		 pathogenic|no classifications from unflagged records
NM_001615.4(ACTG2):c.456C>T (p.Ile152=) single nucleotide variant not provided [RCV000974914] Chr2:73913489 [GRCh38]
Chr2:74140616 [GRCh37]
Chr2:2p13.1		 benign
NM_001615.4(ACTG2):c.792G>A (p.Gln264=) single nucleotide variant not provided [RCV000913638] Chr2:73914858 [GRCh38]
Chr2:74141985 [GRCh37]
Chr2:2p13.1		 likely benign
NM_001615.4(ACTG2):c.589_613+163del deletion Visceral myopathy 1 [RCV001093598] Chr2:73913622..73913809 [GRCh38]
Chr2:74140749..74140936 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.116C>G (p.Pro39Arg) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV002280001] Chr2:73901427 [GRCh38]
Chr2:74128554 [GRCh37]
Chr2:2p13.1		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001615.4(ACTG2):c.1031G>C (p.Gly344Ala) single nucleotide variant Visceral myopathy 1 [RCV001334941] Chr2:73919475 [GRCh38]
Chr2:74146602 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.123C>A (p.His41Gln) single nucleotide variant Visceral myopathy 1 [RCV001263533] Chr2:73901434 [GRCh38]
Chr2:74128561 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.446C>G (p.Thr149Arg) single nucleotide variant Visceral myopathy 1 [RCV001263534] Chr2:73909134 [GRCh38]
Chr2:74136261 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp) single nucleotide variant Visceral myopathy 1 [RCV001263535] Chr2:73913621 [GRCh38]
Chr2:74140748 [GRCh37]
Chr2:2p13.1		 pathogenic|likely pathogenic
NM_001615.4(ACTG2):c.1006C>T (p.Arg336Trp) single nucleotide variant Visceral myopathy 1 [RCV001263536] Chr2:73919450 [GRCh38]
Chr2:74146577 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.178C>G (p.Gln60Glu) single nucleotide variant Visceral myopathy 1 [RCV001809089] Chr2:73902411 [GRCh38]
Chr2:74129538 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.614C>A (p.Ala205Asp) single nucleotide variant ACTG2-related disorder [RCV004734091]|Visceral myopathy 1 [RCV001281680] Chr2:73914680 [GRCh38]
Chr2:74141807 [GRCh37]
Chr2:2p13.1		 likely pathogenic|uncertain significance
NM_001615.4(ACTG2):c.968C>T (p.Pro323Leu) single nucleotide variant Chronic intestinal pseudoobstruction [RCV001647273] Chr2:73916746 [GRCh38]
Chr2:74143873 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.629T>C (p.Val210Ala) single nucleotide variant not provided [RCV001772745] Chr2:73914695 [GRCh38]
Chr2:74141822 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.811G>A (p.Glu271Lys) single nucleotide variant not provided [RCV001772536] Chr2:73916589 [GRCh38]
Chr2:74143716 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.439G>C (p.Gly147Arg) single nucleotide variant Megacystis, microcolon, hypoperistalsis syndrome [RCV002052417] Chr2:73909127 [GRCh38]
Chr2:74136254 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.981G>T (p.Lys327Asn) single nucleotide variant Intestinal pseudo-obstruction [RCV001824111] Chr2:73916759 [GRCh38]
Chr2:74143886 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.359T>C (p.Met120Thr) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV003445399] Chr2:73908776 [GRCh38]
Chr2:74135903 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.590G>C (p.Arg197Thr) single nucleotide variant Visceral myopathy 1 [RCV001824260] Chr2:73913623 [GRCh38]
Chr2:74140750 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.1003G>A (p.Glu335Lys) single nucleotide variant not provided [RCV001959933] Chr2:73919447 [GRCh38]
Chr2:74146574 [GRCh37]
Chr2:2p13.1		 uncertain significance
NC_000002.11:g.(?_72359356)_(74779761_?)del deletion MOGS-congenital disorder of glycosylation [RCV003109485]|not provided [RCV003116543] Chr2:72359356..74779761 [GRCh37]
Chr2:2p13.2-13.1		 pathogenic|no classifications from unflagged records
NC_000002.11:g.(?_69240632)_(74779761_?)dup duplication not provided [RCV003122858] Chr2:69240632..74779761 [GRCh37]
Chr2:2p13.3-13.1		 uncertain significance
NM_001615.4(ACTG2):c.614C>T (p.Ala205Val) single nucleotide variant not provided [RCV002288203] Chr2:73914680 [GRCh38]
Chr2:74141807 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.188G>T (p.Arg63Leu) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV002289104] Chr2:73902421 [GRCh38]
Chr2:74129548 [GRCh37]
Chr2:2p13.1		 likely pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_001615.4(ACTG2):c.593G>T (p.Gly198Val) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV002466887] Chr2:73913626 [GRCh38]
Chr2:74140753 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.632G>T (p.Arg211Leu) single nucleotide variant Visceral myopathy 1 [RCV002471339] Chr2:73914698 [GRCh38]
Chr2:74141825 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.1121A>G (p.Lys374Arg) single nucleotide variant Inborn genetic diseases [RCV002778272] Chr2:73919565 [GRCh38]
Chr2:74146692 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.805+4A>G single nucleotide variant not provided [RCV002510105] Chr2:73914875 [GRCh38]
Chr2:74142002 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.701C>T (p.Ser234Phe) single nucleotide variant Inborn genetic diseases [RCV002807644] Chr2:73914767 [GRCh38]
Chr2:74141894 [GRCh37]
Chr2:2p13.1		 uncertain significance
GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1 copy number loss not provided [RCV003223078] Chr2:73716761..75347894 [GRCh37]
Chr2:2p13.1-12		 uncertain significance
NM_001615.4(ACTG2):c.348C>G (p.Asn116Lys) single nucleotide variant not provided [RCV003141178] Chr2:73908765 [GRCh38]
Chr2:74135892 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.616G>A (p.Glu206Lys) single nucleotide variant not provided [RCV003141179] Chr2:73914682 [GRCh38]
Chr2:74141809 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.137T>C (p.Val46Ala) single nucleotide variant not provided [RCV003225479] Chr2:73902370 [GRCh38]
Chr2:74129497 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.1068G>T (p.Met356Ile) single nucleotide variant not provided [RCV003329642] Chr2:73919512 [GRCh38]
Chr2:74146639 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.615T>G (p.Ala205=) single nucleotide variant not provided [RCV003427024] Chr2:73914681 [GRCh38]
Chr2:74141808 [GRCh37]
Chr2:2p13.1		 likely benign
NM_001615.4(ACTG2):c.985A>C (p.Lys329Gln) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV003445400] Chr2:73916763 [GRCh38]
Chr2:74143890 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.532C>A (p.Arg178Ser) single nucleotide variant Visceral myopathy 1 [RCV003883289] Chr2:73913565 [GRCh38]
Chr2:74140692 [GRCh37]
Chr2:2p13.1		 pathogenic
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1 copy number loss not specified [RCV003986388] Chr2:71076472..76368354 [GRCh37]
Chr2:2p13.3-12		 likely pathogenic
NM_001615.4(ACTG2):c.222C>T (p.His74=) single nucleotide variant ACTG2-related disorder [RCV004531974] Chr2:73902455 [GRCh38]
Chr2:74129582 [GRCh37]
Chr2:2p13.1		 likely benign
NM_001615.4(ACTG2):c.1007G>A (p.Arg336Gln) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV003990221] Chr2:73919451 [GRCh38]
Chr2:74146578 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.28G>A (p.Val10Met) single nucleotide variant Visceral myopathy 1 [RCV003985239] Chr2:73901339 [GRCh38]
Chr2:74128466 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NM_001615.4(ACTG2):c.613+8G>T single nucleotide variant ACTG2-related disorder [RCV004540909] Chr2:73913654 [GRCh38]
Chr2:74140781 [GRCh37]
Chr2:2p13.1		 benign
NM_001615.4(ACTG2):c.*8A>G single nucleotide variant ACTG2-related disorder [RCV004539441] Chr2:73919583 [GRCh38]
Chr2:74146710 [GRCh37]
Chr2:2p13.1		 benign
NM_001615.4(ACTG2):c.758A>G (p.Asn253Ser) single nucleotide variant Inborn genetic diseases [RCV004428135] Chr2:73914824 [GRCh38]
Chr2:74141951 [GRCh37]
Chr2:2p13.1		 uncertain significance
GRCh37/hg19 2p13.1(chr2:74115998-74122821)x1 copy number loss not provided [RCV004577455] Chr2:74115998..74122821 [GRCh37]
Chr2:2p13.1		 uncertain significance
NC_000002.11:g.(?_74143691)_(74177879_?)del deletion not provided [RCV004583857] Chr2:74143691..74177879 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.464A>G (p.Asp155Gly) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV004596043] Chr2:73913497 [GRCh38]
Chr2:74140624 [GRCh37]
Chr2:2p13.1		 likely pathogenic
NC_000002.11:g.(?_74143691)_(74166169_?)del deletion not provided [RCV004583856] Chr2:74143691..74166169 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.104T>C (p.Ile35Thr) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV004764488] Chr2:73901415 [GRCh38]
Chr2:74128542 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.413A>G (p.Gln138Arg) single nucleotide variant Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [RCV004764862] Chr2:73909101 [GRCh38]
Chr2:74136228 [GRCh37]
Chr2:2p13.1		 pathogenic
NM_001615.4(ACTG2):c.455T>A (p.Ile152Asn) single nucleotide variant not provided [RCV004772744] Chr2:73913488 [GRCh38]
Chr2:74140615 [GRCh37]
Chr2:2p13.1		 uncertain significance
NM_001615.4(ACTG2):c.793C>T (p.Pro265Ser) single nucleotide variant not provided [RCV004769528] Chr2:73914859 [GRCh38]
Chr2:74141986 [GRCh37]
Chr2:2p13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2043
Count of miRNA genes:880
Interacting mature miRNAs:1033
Transcripts:ENST00000345517, ENST00000409624, ENST00000409731, ENST00000409918, ENST00000429756, ENST00000438902, ENST00000442912, ENST00000468543, ENST00000473016
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406919555GWAS568531_HN-delta-acetylornithine measurement QTL GWAS568531 (human)2e-15N-delta-acetylornithine measurement27389509673895097Human
407078901GWAS727877_Hmitochondrial DNA measurement QTL GWAS727877 (human)1e-08mitochondrial DNA measurement27391585573915856Human
406941113GWAS590089_Hreceptive language perception, parental genotype effect measurement QTL GWAS590089 (human)0.000005receptive language perception, parental genotype effect measurement27389933073899331Human
407271247GWAS920223_Hbody height QTL GWAS920223 (human)1e-25body height (VT:0001253)body height (CMO:0000106)27390130673901307Human

Markers in Region
GDB:592777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,121,606 - 74,122,067UniSTSGRCh37
Build 36273,975,114 - 73,975,575RGDNCBI36
Celera273,952,860 - 73,953,316RGD
Cytogenetic Map2p13.1UniSTS
HuRef273,857,531 - 73,857,968UniSTS
PMC117352P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,172,815 - 53,172,974UniSTSGRCh37
Build 36X53,189,540 - 53,189,699RGDNCBI36
CeleraX57,002,061 - 57,002,220RGD
HuRefX50,237,766 - 50,237,925UniSTS
PMC193670P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,081,444 - 77,081,641UniSTSGRCh37
Build 36577,117,200 - 77,117,397RGDNCBI36
Celera572,975,454 - 72,975,651RGD
HuRef572,288,329 - 72,288,526UniSTS
RH68187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,146,493 - 74,146,666UniSTSGRCh37
Build 36274,000,001 - 74,000,174RGDNCBI36
Celera273,977,756 - 73,977,929RGD
Cytogenetic Map2p13.1UniSTS
HuRef273,882,157 - 73,882,330UniSTS
GeneMap99-GB4 RH Map2223.14UniSTS
D2S2088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,146,623 - 74,146,778UniSTSGRCh37
Build 36274,000,131 - 74,000,286RGDNCBI36
Celera273,977,886 - 73,978,041RGD
Cytogenetic Map2p13.1UniSTS
HuRef273,882,287 - 73,882,442UniSTS
GeneMap99-GB4 RH Map2224.2UniSTS
Whitehead-RH Map2315.5UniSTS
Whitehead-YAC Contig Map2 UniSTS
PMC23952P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map10q23.3UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q11.2UniSTS
Acta1  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef592,868,577 - 92,868,682UniSTS
STS_ADH2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371535,083,367 - 35,084,435UniSTSGRCh37
Celera1511,842,714 - 11,843,782UniSTS
HuRef1511,928,859 - 11,929,911UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2359 2788 2241 4957 1710 2238 5 612 1521 451 2261 6795 6051 44 3719 1 828 1713 1519 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI850192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000345517   ⟹   ENSP00000295137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,893,008 - 73,919,865 (+)Ensembl
Ensembl Acc Id: ENST00000409624   ⟹   ENSP00000386857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,893,008 - 73,919,865 (+)Ensembl
Ensembl Acc Id: ENST00000409731   ⟹   ENSP00000386929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,892,967 - 73,919,865 (+)Ensembl
Ensembl Acc Id: ENST00000409918   ⟹   ENSP00000387182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,892,982 - 73,903,189 (+)Ensembl
Ensembl Acc Id: ENST00000429756   ⟹   ENSP00000392894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,892,967 - 73,913,592 (+)Ensembl
Ensembl Acc Id: ENST00000438902   ⟹   ENSP00000410706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,892,314 - 73,919,675 (+)Ensembl
Ensembl Acc Id: ENST00000442912   ⟹   ENSP00000410020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,892,982 - 73,908,851 (+)Ensembl
Ensembl Acc Id: ENST00000468543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,893,008 - 73,901,805 (+)Ensembl
Ensembl Acc Id: ENST00000473016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,892,951 - 73,902,734 (+)Ensembl
RefSeq Acc Id: NM_001199893   ⟹   NP_001186822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,893,008 - 73,919,865 (+)NCBI
GRCh37274,120,093 - 74,146,780 (+)ENTREZGENE
HuRef273,854,905 - 73,882,444 (+)ENTREZGENE
CHM1_1274,049,434 - 74,076,040 (+)NCBI
T2T-CHM13v2.0273,901,172 - 73,928,327 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001615   ⟹   NP_001606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,893,008 - 73,919,865 (+)NCBI
GRCh37274,120,093 - 74,146,780 (+)ENTREZGENE
Build 36273,973,601 - 74,000,288 (+)NCBI Archive
HuRef273,854,905 - 73,882,444 (+)ENTREZGENE
CHM1_1274,049,434 - 74,076,040 (+)NCBI
T2T-CHM13v2.0273,901,172 - 73,928,327 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001606   ⟸   NM_001615
- Peptide Label: isoform 1 precursor
- UniProtKB: Q504R1 (UniProtKB/Swiss-Prot),   P12718 (UniProtKB/Swiss-Prot),   E9PG30 (UniProtKB/Swiss-Prot),   D6W5H8 (UniProtKB/Swiss-Prot),   B4E315 (UniProtKB/Swiss-Prot),   B2R7E7 (UniProtKB/Swiss-Prot),   Q6FI22 (UniProtKB/Swiss-Prot),   P63267 (UniProtKB/Swiss-Prot),   B3KW67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186822   ⟸   NM_001199893
- Peptide Label: isoform 2 precursor
- UniProtKB: B4DW52 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000295137   ⟸   ENST00000345517
Ensembl Acc Id: ENSP00000410706   ⟸   ENST00000438902
Ensembl Acc Id: ENSP00000392894   ⟸   ENST00000429756
Ensembl Acc Id: ENSP00000410020   ⟸   ENST00000442912
Ensembl Acc Id: ENSP00000387182   ⟸   ENST00000409918
Ensembl Acc Id: ENSP00000386857   ⟸   ENST00000409624
Ensembl Acc Id: ENSP00000386929   ⟸   ENST00000409731

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P63267-F1-model_v2 AlphaFold P63267 1-376 view protein structure

Promoters
RGD ID:6860706
Promoter ID:EPDNEW_H3518
Type:initiation region
Name:ACTG2_1
Description:actin, gamma 2, smooth muscle, enteric
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,893,008 - 73,893,068EPDNEW
RGD ID:6850654
Promoter ID:EP73121
Type:multiple initiation site
Name:HS_ACTG2
Description:Actin, gamma 2, smooth muscle, enteric.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36273,973,643 - 73,973,703EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:145 AgrOrtholog
COSMIC ACTG2 COSMIC
Ensembl Genes ENSG00000163017 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345517 ENTREZGENE
  ENST00000345517.8 UniProtKB/Swiss-Prot
  ENST00000409624.1 UniProtKB/Swiss-Prot
  ENST00000409731 ENTREZGENE
  ENST00000409731.7 UniProtKB/Swiss-Prot
  ENST00000409918.5 UniProtKB/TrEMBL
  ENST00000429756.5 UniProtKB/TrEMBL
  ENST00000438902.6 UniProtKB/TrEMBL
  ENST00000442912.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.420.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163017 GTEx
HGNC ID HGNC:145 ENTREZGENE
Human Proteome Map ACTG2 Human Proteome Map
InterPro Actin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Actin/actin-like_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Actin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:72 UniProtKB/Swiss-Prot
NCBI Gene 72 ENTREZGENE
OMIM 102545 OMIM
PANTHER ACTIN, ALPHA CARDIAC MUSCLE 2 UniProtKB/TrEMBL
  ACTIN, AORTIC SMOOTH MUSCLE UniProtKB/TrEMBL
  ACTIN, CYTOPLASMIC 2 UniProtKB/TrEMBL
  ACTIN, GAMMA-ENTERIC SMOOTH MUSCLE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11937 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Actin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24469 PharmGKB
PRINTS ACTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACTINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACTINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACTINS_ACT_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ACTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53067 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACTH_HUMAN UniProtKB/Swiss-Prot
  B2R7E7 ENTREZGENE
  B3KW67 ENTREZGENE, UniProtKB/TrEMBL
  B4DW52 ENTREZGENE, UniProtKB/TrEMBL
  B4E315 ENTREZGENE
  B8ZZJ2_HUMAN UniProtKB/TrEMBL
  C9JFL5_HUMAN UniProtKB/TrEMBL
  D6W5H8 ENTREZGENE
  E9PG30 ENTREZGENE
  F8WB63_HUMAN UniProtKB/TrEMBL
  F8WCH0_HUMAN UniProtKB/TrEMBL
  P12718 ENTREZGENE
  P63267 ENTREZGENE
  Q504R1 ENTREZGENE
  Q6FI22 ENTREZGENE
UniProt Secondary B2R7E7 UniProtKB/Swiss-Prot
  B4E315 UniProtKB/Swiss-Prot
  D6W5H8 UniProtKB/Swiss-Prot
  E9PG30 UniProtKB/Swiss-Prot
  P12718 UniProtKB/Swiss-Prot
  Q504R1 UniProtKB/Swiss-Prot
  Q6FI22 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-15 ACTG2  actin gamma 2, smooth muscle    actin, gamma 2, smooth muscle, enteric  Symbol and/or name change 5135510 APPROVED