GAP43 (growth associated protein 43) - Rat Genome Database

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Gene: GAP43 (growth associated protein 43) Homo sapiens
Analyze
Symbol: GAP43
Name: growth associated protein 43
RGD ID: 730980
HGNC Page HGNC
Description: Predicted to enable calmodulin binding activity and phospholipid binding activity. Involved in regulation of filopodium assembly. Located in filopodium membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: axonal membrane protein GAP-43; B-50; calmodulin-binding protein P-57; GAP-43; growth-associated protein 43; nerve growth-related peptide GAP43; neural phosphoprotein B-50; neuromodulin; neuron growth-associated protein 43; PP46; protein F1
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 Ensembl3115,623,510 - 115,721,490 (+)EnsemblGRCh38hg38GRCh38
GRCh383115,623,510 - 115,721,485 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373115,342,357 - 115,440,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363116,825,142 - 116,922,842 (+)NCBINCBI36hg18NCBI36
Build 343116,825,141 - 116,922,842NCBI
Celera3113,750,041 - 113,848,417 (+)NCBI
Cytogenetic Map3q13.31NCBI
HuRef3112,715,632 - 112,815,889 (+)NCBIHuRef
CHM1_13115,305,939 - 115,404,101 (+)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
(+)-pilocarpine  (ISO)
(S)-amphetamine  (ISO)
(S)-nicotine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3-methyladenine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-(1,4-diazepane-1-sulfonyl)isoquinoline  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-D-galactose  (ISO)
ammonium chloride  (ISO)
arachidonic acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
azamethiphos  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
Brodifacoum  (ISO)
butan-1-ol  (ISO)
cadmium atom  (EXP)
calcitriol  (EXP)
carbamazepine  (ISO)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
carvedilol  (ISO)
chlorpyrifos  (ISO)
clobetasol  (ISO)
clorgyline  (ISO)
cobalt dichloride  (ISO)
cocaine  (EXP)
crocidolite asbestos  (ISO)
cyclophosphamide  (ISO)
cyfluthrin  (EXP)
cyhalothrin  (ISO)
cypermethrin  (EXP)
cytarabine  (EXP)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dieldrin  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fasudil hydrochloride  (ISO)
fenvalerate  (ISO)
fluoxetine  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
galactose  (ISO)
glyphosate  (EXP)
Goe 6976  (EXP)
heptachlor  (ISO)
imipramine  (ISO)
isophthalic acid  (EXP)
kainic acid  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
lovastatin  (EXP,ISO)
Meclizine  (EXP)
megestrol  (EXP)
melatonin  (ISO)
melittin  (ISO)
menadione  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
Methazolamide  (EXP)
Mipafox  (EXP)
N-(3-methyl-5-sulfamoyl-1,3,4-thiadiazol-2-ylidene)acetamide  (EXP)
N-acetyl-L-cysteine  (ISO)
nickel atom  (ISO)
nicotine  (ISO)
Oxadiazon  (EXP)
panobinostat  (EXP)
paraoxon  (EXP)
paraquat  (ISO)
pentobarbital  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phencyclidine  (ISO)
PhIP  (ISO)
potassium chloride  (ISO)
progesterone  (EXP,ISO)
quercetin  (ISO)
resveratrol  (EXP)
Salinomycin  (EXP)
sarin  (EXP)
SB 431542  (EXP)
scopolamine  (EXP)
sodium arsenite  (EXP,ISO)
sulindac  (EXP)
Testosterone propionate  (ISO)
thapsigargin  (EXP)
thyroxine  (ISO)
titanium dioxide  (ISO)
trichlorfon  (EXP)
trichostatin A  (EXP)
tris(2-chloroethyl) phosphate  (ISO)
Tryptanthrine  (EXP)
tunicamycin  (EXP)
undecane  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP)
vorinostat  (EXP)
zearalenone  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1281863   PMID:1385623   PMID:1533624   PMID:1828073   PMID:2140056   PMID:3272162   PMID:3272163   PMID:8231732   PMID:8694767   PMID:8737678   PMID:8746449   PMID:8872303  
PMID:8900147   PMID:9139733   PMID:9618702   PMID:9742146   PMID:9774477   PMID:9881859   PMID:10391209   PMID:10521589   PMID:10544214   PMID:11076863   PMID:11238933   PMID:11256614  
PMID:11528129   PMID:11978831   PMID:12034726   PMID:12105219   PMID:12477932   PMID:12704705   PMID:12805215   PMID:12898703   PMID:14702039   PMID:14978216   PMID:15489334   PMID:15489336  
PMID:15694236   PMID:16344560   PMID:16381901   PMID:17412328   PMID:17577668   PMID:17619016   PMID:19593683   PMID:20379614   PMID:20869470   PMID:21152083   PMID:21769916   PMID:21873635  
PMID:22082156   PMID:22138049   PMID:22209024   PMID:23153097   PMID:23396970   PMID:23524246   PMID:23887302   PMID:24301786   PMID:25755278   PMID:25893612   PMID:26071889   PMID:26186194  
PMID:26748453   PMID:27489308   PMID:27495233   PMID:27604409   PMID:28211584   PMID:28514442   PMID:29654647   PMID:30096889   PMID:30419922   PMID:30664241   PMID:30945288   PMID:31536960  
PMID:31568662   PMID:31754174   PMID:32814053   PMID:33402155  


Genomics

Comparative Map Data
GAP43
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3115,623,510 - 115,721,490 (+)EnsemblGRCh38hg38GRCh38
GRCh383115,623,510 - 115,721,485 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373115,342,357 - 115,440,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363116,825,142 - 116,922,842 (+)NCBINCBI36hg18NCBI36
Build 343116,825,141 - 116,922,842NCBI
Celera3113,750,041 - 113,848,417 (+)NCBI
Cytogenetic Map3q13.31NCBI
HuRef3112,715,632 - 112,815,889 (+)NCBIHuRef
CHM1_13115,305,939 - 115,404,101 (+)NCBICHM1_1
Gap43
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391642,068,915 - 42,161,014 (-)NCBIGRCm39mm39
GRCm39 Ensembl1642,068,805 - 42,161,014 (-)Ensembl
GRCm381642,248,552 - 42,340,651 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1642,248,442 - 42,340,651 (-)EnsemblGRCm38mm10GRCm38
MGSCv371642,248,665 - 42,340,764 (-)NCBIGRCm37mm9NCBIm37
MGSCv361642,167,884 - 42,259,983 (-)NCBImm8
Celera1642,611,179 - 42,699,387 (-)NCBICelera
Cytogenetic Map16B4NCBI
cM Map1628.37NCBI
Gap43
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21158,376,371 - 58,470,047 (+)NCBI
Rnor_6.0 Ensembl1158,624,198 - 58,717,914 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01158,624,198 - 58,717,916 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01162,777,623 - 62,870,998 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41159,989,085 - 60,083,971 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11160,046,673 - 60,141,558 (+)NCBI
Celera1157,921,205 - 58,014,789 (+)NCBICelera
Cytogenetic Map11q21NCBI
Gap43
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542715,695,963 - 15,791,327 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542715,696,549 - 15,791,279 (+)NCBIChiLan1.0ChiLan1.0
GAP43
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13119,682,743 - 119,780,290 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3119,734,942 - 119,780,290 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03112,765,576 - 112,863,118 (+)NCBIMhudiblu_PPA_v0panPan3
GAP43
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13319,668,491 - 19,770,509 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3319,656,835 - 19,770,408 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3319,775,530 - 19,877,471 (+)NCBI
ROS_Cfam_1.03319,917,865 - 20,017,414 (+)NCBI
UMICH_Zoey_3.13319,722,015 - 19,823,783 (+)NCBI
UNSW_CanFamBas_1.03319,768,803 - 19,870,740 (+)NCBI
UU_Cfam_GSD_1.03320,313,727 - 20,415,899 (+)NCBI
Gap43
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602134,430,958 - 134,526,139 (-)NCBI
SpeTri2.0NW_0049365362,995,654 - 3,091,079 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAP43
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13144,364,314 - 144,855,433 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113144,364,314 - 144,458,136 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213153,842,841 - 153,937,719 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GAP43
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12265,142,472 - 65,242,185 (-)NCBI
ChlSab1.1 Ensembl2265,142,039 - 65,242,222 (-)Ensembl
Vero_WHO_p1.0NW_023666041101,151,539 - 101,250,605 (+)NCBI
Gap43
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473132,629,586 - 32,748,515 (-)NCBI

Position Markers
G10622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,872 - 115,440,115UniSTSGRCh37
Build 363116,922,562 - 116,922,805RGDNCBI36
Celera3113,847,955 - 113,848,198RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,815,427 - 112,815,670UniSTS
RH122200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,403,619 - 115,403,892UniSTSGRCh37
Build 363116,886,309 - 116,886,582RGDNCBI36
Celera3113,811,496 - 113,811,769RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,778,972 - 112,779,245UniSTS
TNG Radiation Hybrid Map365485.0UniSTS
GDB:181207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,823 - 115,440,135UniSTSGRCh37
Build 363116,922,513 - 116,922,825RGDNCBI36
Celera3113,847,906 - 113,848,218RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,815,378 - 112,815,690UniSTS
GDB:305514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,736 - 115,440,129UniSTSGRCh37
Build 363116,922,426 - 116,922,819RGDNCBI36
Celera3113,847,819 - 113,848,212RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,815,291 - 112,815,684UniSTS
SHGC-142675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,358,022 - 115,358,295UniSTSGRCh37
Build 363116,840,712 - 116,840,985RGDNCBI36
Celera3113,765,908 - 113,766,181RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,731,498 - 112,731,771UniSTS
TNG Radiation Hybrid Map365463.0UniSTS
GAP43_1989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,646 - 115,440,338UniSTSGRCh37
Build 363116,922,336 - 116,923,028RGDNCBI36
Celera3113,847,729 - 113,848,421RGD
HuRef3112,815,201 - 112,815,893UniSTS
GAP43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,819 - 115,439,978UniSTSGRCh37
Build 363116,922,509 - 116,922,668RGDNCBI36
Celera3113,847,902 - 113,848,061RGD
HuRef3112,815,374 - 112,815,533UniSTS
WI-18969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,799 - 115,440,077UniSTSGRCh37
Build 363116,922,489 - 116,922,767RGDNCBI36
Celera3113,847,882 - 113,848,160RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,815,354 - 112,815,632UniSTS
GeneMap99-GB4 RH Map3412.94UniSTS
Whitehead-RH Map3522.9UniSTS
GAP43-3UUTF  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,712 - 115,439,998UniSTSGRCh37
Build 363116,922,402 - 116,922,688RGDNCBI36
Celera3113,847,795 - 113,848,081RGD
HuRef3112,815,267 - 112,815,553UniSTS
RH16452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,683 - 115,439,818UniSTSGRCh37
Build 363116,922,373 - 116,922,508RGDNCBI36
Celera3113,847,766 - 113,847,901RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,815,238 - 112,815,373UniSTS
GeneMap99-GB4 RH Map3416.08UniSTS
NCBI RH Map3929.8UniSTS
WI-7159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373115,439,782 - 115,440,121UniSTSGRCh37
Build 363116,922,472 - 116,922,811RGDNCBI36
Celera3113,847,865 - 113,848,204RGD
Cytogenetic Map3q13.1-q13.2UniSTS
HuRef3112,815,337 - 112,815,676UniSTS
Whitehead-YAC Contig Map3 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:680
Count of miRNA genes:268
Interacting mature miRNAs:296
Transcripts:ENST00000305124, ENST00000393780
Prediction methods: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 pharyngeal arch
High 1 22
Medium 576 329 86 4 46 4 773 120 3256 11 38 64 1 3 590
Low 1520 1601 590 178 450 63 1568 1112 433 92 789 490 120 1 491 958 2
Below cutoff 235 829 888 330 936 284 1895 892 16 207 522 909 47 689 1180 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY842481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA701390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305124   ⟹   ENSP00000305010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3115,623,510 - 115,721,483 (+)Ensembl
RefSeq Acc Id: ENST00000393780   ⟹   ENSP00000377372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3115,623,510 - 115,721,490 (+)Ensembl
RefSeq Acc Id: NM_001130064   ⟹   NP_001123536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383115,623,510 - 115,721,483 (+)NCBI
GRCh373115,342,151 - 115,440,334 (+)ENTREZGENE
HuRef3112,715,632 - 112,815,889 (+)ENTREZGENE
CHM1_13115,305,939 - 115,404,101 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002045   ⟹   NP_002036
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383115,623,510 - 115,721,483 (+)NCBI
GRCh373115,342,151 - 115,440,334 (+)ENTREZGENE
Build 363116,825,142 - 116,922,842 (+)NCBI Archive
HuRef3112,715,632 - 112,815,889 (+)ENTREZGENE
CHM1_13115,305,939 - 115,404,101 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006128   ⟹   XP_016861617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383115,661,856 - 115,721,485 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001123536   ⟸   NM_001130064
- Peptide Label: isoform 1
- UniProtKB: P17677 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002036   ⟸   NM_002045
- Peptide Label: isoform 2
- UniProtKB: P17677 (UniProtKB/Swiss-Prot),   Q5U058 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861617   ⟸   XM_017006128
- Peptide Label: isoform X1
- UniProtKB: P17677 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000377372   ⟸   ENST00000393780
RefSeq Acc Id: ENSP00000305010   ⟸   ENST00000305124
Protein Domains
IQ   Neuromodulin   Neuromodulin_N

Promoters
RGD ID:6865314
Promoter ID:EPDNEW_H5822
Type:initiation region
Name:GAP43_2
Description:growth associated protein 43
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5821  EPDNEW_H5823  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383115,623,300 - 115,623,360EPDNEW
RGD ID:6865316
Promoter ID:EPDNEW_H5823
Type:initiation region
Name:GAP43_1
Description:growth associated protein 43
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5821  EPDNEW_H5822  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383115,623,567 - 115,623,627EPDNEW
RGD ID:6812293
Promoter ID:HG_ACW:55328
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:GAP43.AAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 363116,859,889 - 116,860,389 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1 copy number loss See cases [RCV000050766] Chr3:112168829..117393356 [GRCh38]
Chr3:111887676..117112203 [GRCh37]
Chr3:113370366..118594893 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 copy number loss See cases [RCV000051544] Chr3:108242572..116169331 [GRCh38]
Chr3:107961419..115888178 [GRCh37]
Chr3:109444109..117370868 [NCBI36]
Chr3:3q13.13-13.31
pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 copy number loss See cases [RCV000051545] Chr3:112479482..115774102 [GRCh38]
Chr3:112198329..115492949 [GRCh37]
Chr3:113681019..116975639 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 copy number gain See cases [RCV000051722] Chr3:104621220..116093884 [GRCh38]
Chr3:104340064..115812731 [GRCh37]
Chr3:105822754..117295421 [NCBI36]
Chr3:3q13.11-13.31
pathogenic
GRCh38/hg38 3q13.31(chr3:114649022-116595962)x1 copy number loss See cases [RCV000053963] Chr3:114649022..116595962 [GRCh38]
Chr3:114367869..116314809 [GRCh37]
Chr3:115850559..117797499 [NCBI36]
Chr3:3q13.31
uncertain significance
NM_001130064.1(GAP43):c.439G>A (p.Glu147Lys) single nucleotide variant Malignant melanoma [RCV000065783] Chr3:115676313 [GRCh38]
Chr3:115395160 [GRCh37]
Chr3:116877850 [NCBI36]
Chr3:3q13.31
not provided
NM_001130064.1(GAP43):c.441G>A (p.Glu147=) single nucleotide variant Malignant melanoma [RCV000065784] Chr3:115676315 [GRCh38]
Chr3:115395162 [GRCh37]
Chr3:116877852 [NCBI36]
Chr3:3q13.31
not provided
GRCh38/hg38 3q13.31(chr3:114298318-116366433)x1 copy number loss See cases [RCV000134262] Chr3:114298318..116366433 [GRCh38]
Chr3:114017165..116085280 [GRCh37]
Chr3:115499855..117567970 [NCBI36]
Chr3:3q13.31
uncertain significance
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1 copy number loss See cases [RCV000135592] Chr3:112465096..115774102 [GRCh38]
Chr3:112183943..115492949 [GRCh37]
Chr3:113666633..116975639 [NCBI36]
Chr3:3q13.2-13.31
likely pathogenic
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1
pathogenic
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31
pathogenic|uncertain significance
GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1 copy number loss See cases [RCV000138434] Chr3:112465094..115774111 [GRCh38]
Chr3:112183941..115492958 [GRCh37]
Chr3:113666631..116975648 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q13.31(chr3:115165727-116083715)x1 copy number loss See cases [RCV000140703] Chr3:115165727..116083715 [GRCh38]
Chr3:114884574..115802562 [GRCh37]
Chr3:116367264..117285252 [NCBI36]
Chr3:3q13.31
uncertain significance
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1 copy number loss See cases [RCV000142219] Chr3:112425234..115795585 [GRCh38]
Chr3:112144081..115514432 [GRCh37]
Chr3:113626771..116997122 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33
pathogenic
GRCh38/hg38 3q13.31-13.32(chr3:114734452-118164045)x1 copy number loss See cases [RCV000143674] Chr3:114734452..118164045 [GRCh38]
Chr3:114453299..117882892 [GRCh37]
Chr3:115935989..119365582 [NCBI36]
Chr3:3q13.31-13.32
uncertain significance
GRCh37/hg19 3q13.31(chr3:114260384-116691114)x1 copy number loss See cases [RCV000240467] Chr3:114260384..116691114 [GRCh37]
Chr3:3q13.31
likely pathogenic
GRCh37/hg19 3q13.31(chr3:114926956-115380890)x3 copy number gain See cases [RCV000599052] Chr3:114926956..115380890 [GRCh37]
Chr3:3q13.31
uncertain significance
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)x1 copy number loss See cases [RCV000446223] Chr3:112144081..115514432 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 copy number loss See cases [RCV000448410] Chr3:105094834..117441953 [GRCh37]
Chr3:3q13.11-13.32
pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1 copy number loss See cases [RCV000511086] Chr3:112590339..116461450 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.31(chr3:113976880-115536487)x3 copy number gain not provided [RCV000682297] Chr3:113976880..115536487 [GRCh37]
Chr3:3q13.31
uncertain significance
GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1 copy number loss not provided [RCV000682296] Chr3:111894832..116930109 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_002045.4(GAP43):c.31-12223C>T single nucleotide variant not provided [RCV000965647] Chr3:115663790 [GRCh38]
Chr3:115382637 [GRCh37]
Chr3:3q13.31
benign
NM_002045.4(GAP43):c.48C>T (p.Asp16=) single nucleotide variant not provided [RCV000923762] Chr3:115676030 [GRCh38]
Chr3:115394877 [GRCh37]
Chr3:3q13.31
likely benign
GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1 copy number loss not provided [RCV000856645] Chr3:112183943..115492949 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
GRCh37/hg19 3q13.31(chr3:113976794-115539266)x3 copy number gain not provided [RCV000845940] Chr3:113976794..115539266 [GRCh37]
Chr3:3q13.31
uncertain significance
GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1 copy number loss See cases [RCV001194596] Chr3:113233952..118525556 [GRCh37]
Chr3:3q13.2-13.32
pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3 copy number gain not provided [RCV001259226] Chr3:112135341..115509260 [GRCh37]
Chr3:3q13.2-13.31
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4140 AgrOrtholog
COSMIC GAP43 COSMIC
Ensembl Genes ENSG00000172020 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000305010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377372 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305124 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393780 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000172020 GTEx
HGNC ID HGNC:4140 ENTREZGENE
Human Proteome Map GAP43 Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuromodulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuromodulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuromodulin_gap-junction_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuromodulin_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuromodulin_palmitoyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2596 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2596 ENTREZGENE
OMIM 162060 OMIM
Pfam Neuromodulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuromodulin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28553 PharmGKB
PRINTS NEUROMODULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROMODULIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUROMODULIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt NEUM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5U058 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K0Y4 UniProtKB/Swiss-Prot