ARC (activity regulated cytoskeleton associated protein) - Rat Genome Database

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Gene: ARC (activity regulated cytoskeleton associated protein) Homo sapiens
Analyze
Symbol: ARC
Name: activity regulated cytoskeleton associated protein
RGD ID: 730952
HGNC Page HGNC
Description: Predicted to enable mRNA binding activity. Involved in cell migration; cytoskeleton organization; and regulation of cell morphogenesis. Located in cytoplasm and plasma membrane; INTERACTS WITH (S)-nicotine; 15-acetyldeoxynivalenol; acrylamide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: activity-regulated gene 3.1 protein homolog; ARC/ARG3.1; Arg3.1; hArc; KIAA0278
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,611,049 - 142,614,479 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,611,049 - 142,614,479 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,692,410 - 143,695,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,689,412 - 143,692,835 (-)NCBINCBI36hg18NCBI36
Build 348143,689,411 - 143,692,835NCBI
Celera8140,003,980 - 140,007,899 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8138,948,085 - 138,951,389 (-)NCBIHuRef
CHM1_18143,732,641 - 143,736,069 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(S)-amphetamine  (ISO)
(S)-nicotine  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
15-acetyldeoxynivalenol  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',3,3',6,6'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
26-hydroxycholesterol  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,5,6,7-TETRABROMOBENZOTRIAZOLE  (ISO)
6-propyl-2-thiouracil  (ISO)
8-OH-DPAT  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bicuculline  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
cerium trichloride  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
Citreoviridin  (ISO)
clozapine  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (EXP)
desipramine  (ISO)
Diacetoxyscirpenol  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (EXP)
disulfiram  (EXP)
dizocilpine maleate  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
furosemide  (ISO)
genistein  (ISO)
glufosinate  (ISO)
glycidol  (ISO)
graphite  (ISO)
haloperidol  (ISO)
isoflurane  (ISO)
kainic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
Licochalcone B  (EXP)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
methylphenidate  (ISO)
monosodium L-glutamate  (ISO)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
naphthalenes  (ISO)
nicotine  (EXP)
paracetamol  (ISO)
paroxetine  (ISO)
pentanal  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
poly(I:C)  (ISO)
progesterone  (ISO)
propanal  (EXP)
propofol  (ISO)
reserpine  (ISO)
resveratrol  (ISO)
SCH 23390  (ISO)
scopolamine  (ISO)
sevoflurane  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
SKF 38393  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sterigmatocystin  (ISO)
sulfur dioxide  (ISO)
temozolomide  (EXP)
tetradecane  (ISO)
tetrodotoxin  (ISO)
thimerosal  (EXP)
tranylcypromine  (ISO)
triazolam  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
undecane  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9039502   PMID:10970730   PMID:11117363   PMID:12477932   PMID:15103018   PMID:15489334   PMID:15537891   PMID:16189514   PMID:17120280   PMID:17466953   PMID:21834987   PMID:21873635  
PMID:22036569   PMID:22302811   PMID:22584581   PMID:22622366   PMID:23671107   PMID:24945773   PMID:25748042   PMID:26038830   PMID:26380114   PMID:26474411   PMID:26516611   PMID:26995091  
PMID:27464451   PMID:27995769   PMID:28108859   PMID:28514442   PMID:28553222   PMID:28671113   PMID:30028513   PMID:30194290   PMID:30569799   PMID:30796345   PMID:31826916   PMID:31911950  
PMID:32062451   PMID:32145691   PMID:32296183   PMID:32393512   PMID:33175445   PMID:33431799   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
ARC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,611,049 - 142,614,479 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,611,049 - 142,614,479 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,692,410 - 143,695,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,689,412 - 143,692,835 (-)NCBINCBI36hg18NCBI36
Build 348143,689,411 - 143,692,835NCBI
Celera8140,003,980 - 140,007,899 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8138,948,085 - 138,951,389 (-)NCBIHuRef
CHM1_18143,732,641 - 143,736,069 (-)NCBICHM1_1
Arc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,540,930 - 74,544,419 (-)NCBIGRCm39mm39
GRCm39 Ensembl1574,540,932 - 74,544,419 (-)Ensembl
GRCm381574,669,081 - 74,672,570 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,669,083 - 74,672,570 (-)EnsemblGRCm38mm10GRCm38
MGSCv371574,499,513 - 74,503,000 (-)NCBIGRCm37mm9NCBIm37
MGSCv361574,496,338 - 74,499,825 (-)NCBImm8
Celera1576,173,822 - 76,177,304 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.25NCBI
Arc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,555,968 - 106,559,697 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7106,555,785 - 106,559,378 (-)Ensembl
Rnor_6.07115,907,097 - 115,911,059 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7115,907,097 - 115,910,541 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07115,812,499 - 115,815,958 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,771,937 - 112,775,381 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17112,806,166 - 112,809,611 (-)NCBI
Celera7102,957,256 - 102,960,700 (-)NCBICelera
Cytogenetic Map7q34NCBI
Arc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,379,998 - 1,383,414 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,379,998 - 1,383,414 (-)NCBIChiLan1.0ChiLan1.0
ARC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,365,962 - 142,369,309 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,367,995 - 142,369,185 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,320,366 - 139,323,802 (-)NCBIMhudiblu_PPA_v0panPan3
ARC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,743,027 - 36,744,266 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,609,093 - 36,612,592 (-)NCBI
ROS_Cfam_1.01337,136,507 - 37,140,000 (-)NCBI
UMICH_Zoey_3.11336,855,275 - 36,858,753 (-)NCBI
UNSW_CanFamBas_1.01336,944,976 - 36,948,432 (-)NCBI
UU_Cfam_GSD_1.01337,366,985 - 37,370,448 (-)NCBI
Arc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,759,046 - 1,762,161 (+)NCBI
SpeTri2.0NW_0049364709,185,145 - 9,188,260 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,517,980 - 1,521,403 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,517,986 - 1,521,403 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ARC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18136,857,402 - 136,860,933 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl8136,859,438 - 136,860,628 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660393,095,686 - 3,099,176 (+)NCBIVero_WHO_p1.0
Arc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,968,628 - 13,972,026 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
ARC_303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,692,408 - 143,693,213UniSTSGRCh37
Build 368143,689,410 - 143,690,215RGDNCBI36
Celera8140,003,978 - 140,004,783RGD
HuRef8138,948,088 - 138,948,893UniSTS
SGC31190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,692,447 - 143,692,571UniSTSGRCh37
Build 368143,689,449 - 143,689,573RGDNCBI36
Celera8140,004,017 - 140,004,141RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,948,127 - 138,948,251UniSTS
TNG Radiation Hybrid Map871076.0UniSTS
GeneMap99-GB4 RH Map8548.76UniSTS
Whitehead-RH Map8713.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2226
Count of miRNA genes:750
Interacting mature miRNAs:894
Transcripts:ENST00000356613, ENST00000581404
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 5 5
Medium 123 37 334 9 11 6 753 35 1400 13 61 269 3 162 336
Low 1825 1480 808 99 455 31 2619 989 2303 258 1254 1146 83 1 1031 1514 2
Below cutoff 468 1428 519 455 1082 368 977 1159 26 136 128 179 87 11 933 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000356613   ⟹   ENSP00000349022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,611,049 - 142,614,479 (-)Ensembl
RefSeq Acc Id: ENST00000581404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,612,065 - 142,612,702 (-)Ensembl
RefSeq Acc Id: NM_015193   ⟹   NP_056008
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,611,049 - 142,614,479 (-)NCBI
GRCh378143,692,405 - 143,695,833 (-)NCBI
Build 368143,689,412 - 143,692,835 (-)NCBI Archive
Celera8140,003,980 - 140,007,899 (-)RGD
HuRef8138,948,085 - 138,951,389 (-)NCBI
CHM1_18143,732,641 - 143,736,069 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056008   ⟸   NM_015193
- UniProtKB: Q7LC44 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000349022   ⟸   ENST00000356613

Promoters
RGD ID:7214277
Promoter ID:EPDNEW_H12885
Type:multiple initiation site
Name:ARC_1
Description:activity regulated cytoskeleton associated protein
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
GRCh388142,614,477 - 142,614,537EPDNEW
RGD ID:6806499
Promoter ID:HG_KWN:62227
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015193,   UC010MEV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,692,536 - 143,693,036 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143514434-143721935)x3 copy number gain not provided [RCV000747916] Chr8:143514434..143721935 [GRCh37]
Chr8:8q24.3
benign
NM_015193.5(ARC):c.537C>T (p.Ala179=) single nucleotide variant not provided [RCV000967110] Chr8:142613735 [GRCh38]
Chr8:143695096 [GRCh37]
Chr8:8q24.3
benign
NM_015193.5(ARC):c.1029G>A (p.Lys343=) single nucleotide variant not provided [RCV000983483] Chr8:142613243 [GRCh38]
Chr8:143694604 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_002047.4(GARS1):c.51G>A (p.Leu17=) single nucleotide variant not provided [RCV001720976] Chr8:142612823 [GRCh38]
Chr8:143694184 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:648 AgrOrtholog
COSMIC ARC COSMIC
Ensembl Genes ENSG00000198576 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000349022 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000356613 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000198576 GTEx
HGNC ID HGNC:648 ENTREZGENE
Human Proteome Map ARC Human Proteome Map
InterPro Activity-reg_cytoskelet-assoc UniProtKB/Swiss-Prot
  Arc_C UniProtKB/Swiss-Prot
KEGG Report hsa:23237 UniProtKB/Swiss-Prot
NCBI Gene 23237 ENTREZGENE
OMIM 612461 OMIM
PANTHER PTHR15962 UniProtKB/Swiss-Prot
Pfam Arc_C UniProtKB/Swiss-Prot
PharmGKB PA24930 PharmGKB
PRINTS ARCARG31 UniProtKB/Swiss-Prot
UniProt ARC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q9UJW6 UniProtKB/Swiss-Prot
  Q9Y469 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 ARC  activity regulated cytoskeleton associated protein    activity-regulated cytoskeleton-associated protein  Symbol and/or name change 5135510 APPROVED