GLIPR2 (GLI pathogenesis related 2) - Rat Genome Database

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Gene: GLIPR2 (GLI pathogenesis related 2) Homo sapiens
Analyze
Symbol: GLIPR2
Name: GLI pathogenesis related 2
RGD ID: 1316497
HGNC Page HGNC:18007
Description: Enables protein homodimerization activity. Involved in positive regulation of ERK1 and ERK2 cascade; positive regulation of epithelial cell migration; and positive regulation of epithelial to mesenchymal transition. Located in Golgi membrane. Biomarker of pancreatic ductal adenocarcinoma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 17kD fetal brain protein; C9orf19; GAPR-1; GAPR1; GLI pathogenesis-related 2; glioma pathogenesis-related protein 2; gliPR 2; Golgi-associated plant pathogenesis-related protein 1; golgi-associated PR-1 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38936,136,536 - 36,163,913 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl936,136,536 - 36,163,913 (+)EnsemblGRCh38hg38GRCh38
GRCh37936,136,533 - 36,163,910 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36936,126,742 - 36,153,903 (+)NCBINCBI36Build 36hg18NCBI36
Build 34936,126,741 - 36,153,901NCBI
Celera936,070,326 - 36,097,488 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef936,101,693 - 36,117,808 (+)NCBIHuRef
CHM1_1936,137,143 - 36,164,306 (+)NCBICHM1_1
T2T-CHM13v2.0936,158,540 - 36,185,919 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3',5'-cyclic AMP  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
butan-1-ol  (EXP)
butanal  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP,ISO)
chlordecone  (ISO)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dioxygen  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
ethanol  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
GW 4064  (ISO)
isobutanol  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. PSMD11, PTPRM and PTPRB as novel biomarkers of pancreatic cancer progression. Sahni S, etal., Biochim Biophys Acta Gen Subj. 2020 Nov;1864(11):129682. doi: 10.1016/j.bbagen.2020.129682. Epub 2020 Jul 12.
Additional References at PubMed
PMID:11865038   PMID:12137952   PMID:12202484   PMID:12477932   PMID:14702039   PMID:15123429   PMID:15164053   PMID:15342556   PMID:15489334   PMID:16303743   PMID:16344560   PMID:18570454  
PMID:19056867   PMID:19322201   PMID:20237496   PMID:21873635   PMID:22560898   PMID:22939629   PMID:23376485   PMID:23516513   PMID:23533145   PMID:24204846   PMID:25416956   PMID:26186194  
PMID:26678074   PMID:27503909   PMID:28876241   PMID:29509190   PMID:30833792   PMID:32707033   PMID:33222586   PMID:34298062   PMID:35013218   PMID:35063084   PMID:36215168   PMID:36517590  
PMID:36586462   PMID:36774506  


Genomics

Comparative Map Data
GLIPR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38936,136,536 - 36,163,913 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl936,136,536 - 36,163,913 (+)EnsemblGRCh38hg38GRCh38
GRCh37936,136,533 - 36,163,910 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36936,126,742 - 36,153,903 (+)NCBINCBI36Build 36hg18NCBI36
Build 34936,126,741 - 36,153,901NCBI
Celera936,070,326 - 36,097,488 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef936,101,693 - 36,117,808 (+)NCBIHuRef
CHM1_1936,137,143 - 36,164,306 (+)NCBICHM1_1
T2T-CHM13v2.0936,158,540 - 36,185,919 (+)NCBIT2T-CHM13v2.0
Glipr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,957,702 - 43,979,118 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl443,957,401 - 43,979,118 (+)EnsemblGRCm39 Ensembl
GRCm38443,957,702 - 43,979,118 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,957,401 - 43,979,118 (+)EnsemblGRCm38mm10GRCm38
MGSCv37443,970,574 - 43,991,990 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,978,802 - 44,000,218 (+)NCBIMGSCv36mm8
Celera443,978,792 - 44,000,334 (+)NCBICelera
Cytogenetic Map4B1NCBI
cM Map423.07NCBI
Glipr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8562,966,163 - 62,998,016 (+)NCBIGRCr8
mRatBN7.2558,170,417 - 58,202,258 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl558,170,425 - 58,202,272 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx560,162,491 - 60,183,102 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0561,981,302 - 62,001,915 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0561,951,795 - 61,972,315 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0559,415,415 - 59,446,732 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl559,416,076 - 59,446,647 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,939,323 - 63,969,256 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4560,419,965 - 60,439,957 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera556,749,702 - 56,779,535 (+)NCBICelera
Cytogenetic Map5q22NCBI
Glipr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472189,858 - 201,549 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955472191,886 - 201,551 (-)NCBIChiLan1.0ChiLan1.0
GLIPR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21188,425,634 - 88,452,830 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1988,431,567 - 88,458,767 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0935,986,341 - 36,013,662 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1936,787,649 - 36,814,812 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,787,649 - 36,814,812 (+)Ensemblpanpan1.1panPan2
GLIPR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11152,622,460 - 52,634,602 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1152,615,039 - 52,681,270 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1151,205,566 - 51,225,284 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01153,721,186 - 53,740,908 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1153,625,498 - 53,790,061 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11152,224,123 - 52,243,829 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01152,246,168 - 52,265,881 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01152,947,714 - 52,967,435 (+)NCBIUU_Cfam_GSD_1.0
Glipr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947167,571,564 - 167,592,321 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365244,118,697 - 4,139,942 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365244,118,964 - 4,139,901 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLIPR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,919,879 - 236,943,823 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,919,821 - 236,943,828 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,627,079 - 264,651,269 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GLIPR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11244,395,343 - 44,422,118 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1244,395,321 - 44,422,092 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603841,486,310 - 41,513,121 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Glipr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248684,546,030 - 4,566,817 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248684,546,150 - 4,566,782 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GLIPR2
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_022343.3(GLIPR2):c.69G>T (p.Lys23Asn) single nucleotide variant Malignant melanoma [RCV000061939] Chr9:36147841 [GRCh38]
Chr9:36147838 [GRCh37]
Chr9:36137838 [NCBI36]
Chr9:9p13.3		 not provided
NM_022343.3(GLIPR2):c.149G>C (p.Arg50Thr) single nucleotide variant Malignant melanoma [RCV000061940] Chr9:36148573 [GRCh38]
Chr9:36148570 [GRCh37]
Chr9:36138570 [NCBI36]
Chr9:9p13.3		 not provided
NM_022343.3(GLIPR2):c.150G>A (p.Arg50=) single nucleotide variant Malignant melanoma [RCV000061941] Chr9:36148574 [GRCh38]
Chr9:36148571 [GRCh37]
Chr9:36138571 [NCBI36]
Chr9:9p13.3		 not provided
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1 copy number loss Neurodevelopmental disorder [RCV001580194] Chr9:36088563..39092820 [GRCh37]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_022343.4(GLIPR2):c.372C>T (p.Asp124=) single nucleotide variant not provided [RCV000901651] Chr9:36162429 [GRCh38]
Chr9:36162426 [GRCh37]
Chr9:9p13.3		 benign|likely benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_022343.4(GLIPR2):c.102C>T (p.Asn34=) single nucleotide variant not provided [RCV000962368] Chr9:36147874 [GRCh38]
Chr9:36147871 [GRCh37]
Chr9:9p13.3		 benign
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NC_000009.11:g.(?_35683146)_(36277049_?)dup duplication Arthrogryposis, distal, type 1A [RCV001345686] Chr9:35683146..36277049 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_022343.4(GLIPR2):c.29A>C (p.His10Pro) single nucleotide variant not specified [RCV004217937] Chr9:36147801 [GRCh38]
Chr9:36147798 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.329A>T (p.Lys110Met) single nucleotide variant not specified [RCV004218514] Chr9:36162386 [GRCh38]
Chr9:36162383 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.127T>C (p.Ser43Pro) single nucleotide variant not specified [RCV004189449] Chr9:36148551 [GRCh38]
Chr9:36148548 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.146C>T (p.Thr49Met) single nucleotide variant not specified [RCV004076213] Chr9:36148570 [GRCh38]
Chr9:36148567 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.445G>A (p.Val149Ile) single nucleotide variant not specified [RCV004226178] Chr9:36162502 [GRCh38]
Chr9:36162499 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.59A>G (p.Tyr20Cys) single nucleotide variant not specified [RCV004099272] Chr9:36147831 [GRCh38]
Chr9:36147828 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.25T>C (p.Phe9Leu) single nucleotide variant not specified [RCV004181327] Chr9:36147797 [GRCh38]
Chr9:36147794 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.83C>G (p.Pro28Arg) single nucleotide variant not specified [RCV004230960] Chr9:36147855 [GRCh38]
Chr9:36147852 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.112G>A (p.Glu38Lys) single nucleotide variant not specified [RCV004262418] Chr9:36147884 [GRCh38]
Chr9:36147881 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.77T>C (p.Val26Ala) single nucleotide variant not specified [RCV004262985] Chr9:36147849 [GRCh38]
Chr9:36147846 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022343.4(GLIPR2):c.322G>T (p.Val108Leu) single nucleotide variant not specified [RCV004354598] Chr9:36162379 [GRCh38]
Chr9:36162376 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_022343.4(GLIPR2):c.13+49C>T single nucleotide variant not provided [RCV003435780] Chr9:36136840 [GRCh38]
Chr9:36136837 [GRCh37]
Chr9:9p13.3		 likely benign
NM_022343.4(GLIPR2):c.13+61C>A single nucleotide variant not provided [RCV003425662] Chr9:36136852 [GRCh38]
Chr9:36136849 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1 copy number loss not specified [RCV003986844] Chr9:35440393..38787480 [GRCh37]
Chr9:9p13.3-13.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2059
Count of miRNA genes:779
Interacting mature miRNAs:891
Transcripts:ENST00000377959, ENST00000377960, ENST00000396613, ENST00000474050
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
SHGC-57516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37936,162,359 - 36,162,522UniSTSGRCh37
Build 36936,152,359 - 36,152,522RGDNCBI36
Celera936,095,944 - 36,096,107RGD
Cytogenetic Map9p13.3UniSTS
HuRef936,116,264 - 36,116,427UniSTS
TNG Radiation Hybrid Map919576.0UniSTS
A002G23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37936,163,587 - 36,163,867UniSTSGRCh37
Build 36936,153,587 - 36,153,867RGDNCBI36
Celera936,097,172 - 36,097,452RGD
Cytogenetic Map9p13.3UniSTS
HuRef936,117,492 - 36,117,772UniSTS
GeneMap99-GB4 RH Map9155.84UniSTS
Whitehead-RH Map9166.7UniSTS
G62131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37936,163,524 - 36,163,640UniSTSGRCh37
Build 36936,153,524 - 36,153,640RGDNCBI36
Celera936,097,109 - 36,097,225RGD
Cytogenetic Map9p13.3UniSTS
HuRef936,117,429 - 36,117,545UniSTS
Cda1bg09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37936,163,690 - 36,163,779UniSTSGRCh37
Build 36936,153,690 - 36,153,779RGDNCBI36
Celera936,097,275 - 36,097,364RGD
Cytogenetic Map9p13.3UniSTS
HuRef936,117,595 - 36,117,684UniSTS
GeneMap99-GB4 RH Map9140.95UniSTS
RH36474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37936,163,646 - 36,163,839UniSTSGRCh37
Build 36936,153,646 - 36,153,839RGDNCBI36
Celera936,097,231 - 36,097,424RGD
Cytogenetic Map9p13.3UniSTS
HuRef936,117,551 - 36,117,744UniSTS
GeneMap99-GB4 RH Map9157.41UniSTS


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
Medium 2177 2399 1024 179 1420 65 2795 972 1687 197 952 1408 122 1 1195 1695 2
Low 220 592 700 443 484 397 1559 1224 2045 221 501 184 52 9 1092 4 2
Below cutoff 28 1 1 33 2 2 1 1 1 6 16 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001287010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI458414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY039756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF515272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF516600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP261391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA268281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA271525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA432700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA824243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA986727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N41831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377959   ⟹   ENSP00000367195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl936,136,742 - 36,162,910 (+)Ensembl
RefSeq Acc Id: ENST00000377960   ⟹   ENSP00000367196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl936,136,733 - 36,163,906 (+)Ensembl
RefSeq Acc Id: ENST00000396613   ⟹   ENSP00000379857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl936,136,536 - 36,163,913 (+)Ensembl
RefSeq Acc Id: ENST00000474050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl936,144,276 - 36,163,902 (+)Ensembl
RefSeq Acc Id: ENST00000619700   ⟹   ENSP00000478768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl936,136,785 - 36,163,913 (+)Ensembl
RefSeq Acc Id: NM_001287010   ⟹   NP_001273939
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287011   ⟹   NP_001273940
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287012   ⟹   NP_001273941
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287013   ⟹   NP_001273942
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,137,183 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287014   ⟹   NP_001273943
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,137,183 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022343   ⟹   NP_071738
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
GRCh37936,136,730 - 36,163,910 (+)NCBI
Build 36936,126,742 - 36,153,903 (+)NCBI Archive
Celera936,070,326 - 36,097,488 (+)RGD
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104637
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104638
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,536 - 36,163,913 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,540 - 36,185,919 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104639
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104640
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,906 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,737 - 36,185,912 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104641
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,536 - 36,163,913 (+)NCBI
HuRef936,090,515 - 36,117,815 (+)NCBI
CHM1_1936,136,934 - 36,164,313 (+)NCBI
T2T-CHM13v2.0936,158,540 - 36,185,919 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447416   ⟹   XP_024303184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,163,913 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422807   ⟹   XP_047278763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38936,136,733 - 36,147,869 (+)NCBI
RefSeq Acc Id: XM_054362021   ⟹   XP_054217996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0936,158,737 - 36,169,875 (+)NCBI
RefSeq Acc Id: XM_054362022   ⟹   XP_054217997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0936,158,737 - 36,185,919 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_071738   ⟸   NM_022343
- Peptide Label: isoform a
- UniProtKB: Q8WWC9 (UniProtKB/Swiss-Prot),   Q8N2S6 (UniProtKB/Swiss-Prot),   Q5VZR1 (UniProtKB/Swiss-Prot),   Q8WX36 (UniProtKB/Swiss-Prot),   Q9H4G4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273943   ⟸   NM_001287014
- Peptide Label: isoform f
- UniProtKB: A0A087WUM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273940   ⟸   NM_001287011
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001273939   ⟸   NM_001287010
- Peptide Label: isoform b
- UniProtKB: Q5VZR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273941   ⟸   NM_001287012
- Peptide Label: isoform d
- UniProtKB: A0A088AWP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273942   ⟸   NM_001287013
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: XP_024303184   ⟸   XM_024447416
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000367195   ⟸   ENST00000377959
RefSeq Acc Id: ENSP00000367196   ⟸   ENST00000377960
RefSeq Acc Id: ENSP00000478768   ⟸   ENST00000619700
RefSeq Acc Id: ENSP00000379857   ⟸   ENST00000396613
RefSeq Acc Id: XP_047278763   ⟸   XM_047422807
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217997   ⟸   XM_054362022
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054217996   ⟸   XM_054362021
- Peptide Label: isoform X1
Protein Domains
SCP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4G4-F1-model_v2 AlphaFold Q9H4G4 1-154 view protein structure

Promoters
RGD ID:6807743
Promoter ID:HG_KWN:63131
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377959,   OTTHUMT00000052414,   OTTHUMT00000052416,   UC003ZZA.1,   UC010MLF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36936,126,366 - 36,126,932 (+)MPROMDB
RGD ID:6850740
Promoter ID:EP73164
Type:multiple initiation site
Name:HS_C9ORF19
Description:Chromosome 9 open reading frame 19.
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 36936,126,732 - 36,126,792EPD
RGD ID:6807737
Promoter ID:HG_KWN:63132
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000052415
Position:
Human AssemblyChrPosition (strand)Source
Build 36936,133,351 - 36,135,032 (+)MPROMDB
RGD ID:7215061
Promoter ID:EPDNEW_H13276
Type:initiation region
Name:GLIPR2_1
Description:GLI pathogenesis related 2
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
GRCh38936,136,735 - 36,136,795EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18007 AgrOrtholog
COSMIC GLIPR2 COSMIC
Ensembl Genes ENSG00000122694 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377959 ENTREZGENE
  ENST00000377959.5 UniProtKB/TrEMBL
  ENST00000377960 ENTREZGENE
  ENST00000377960.9 UniProtKB/Swiss-Prot
  ENST00000396613 ENTREZGENE
  ENST00000396613.7 UniProtKB/TrEMBL
  ENST00000619700 ENTREZGENE
  ENST00000619700.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.33.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122694 GTEx
HGNC ID HGNC:18007 ENTREZGENE
Human Proteome Map GLIPR2 Human Proteome Map
InterPro Allrgn_V5/Tpx1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAP_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRISP-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCP_GAPR1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:152007 UniProtKB/Swiss-Prot
NCBI Gene 152007 ENTREZGENE
OMIM 607141 OMIM
PANTHER GOLGI-ASSOCIATED PLANT PATHOGENESIS-RELATED PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10334 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164720283 PharmGKB
PRINTS V5TPXLIKE UniProtKB/Swiss-Prot
PROSITE CRISP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55797 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUM5 ENTREZGENE, UniProtKB/TrEMBL
  A0A088AWP7 ENTREZGENE, UniProtKB/TrEMBL
  GAPR1_HUMAN UniProtKB/Swiss-Prot
  Q5VZR0 ENTREZGENE, UniProtKB/TrEMBL
  Q5VZR1 ENTREZGENE
  Q8N2S6 ENTREZGENE
  Q8WWC9 ENTREZGENE
  Q8WX36 ENTREZGENE
  Q9H4G4 ENTREZGENE
UniProt Secondary Q5VZR1 UniProtKB/Swiss-Prot
  Q8N2S6 UniProtKB/Swiss-Prot
  Q8WWC9 UniProtKB/Swiss-Prot
  Q8WX36 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 GLIPR2  GLI pathogenesis related 2    GLI pathogenesis-related 2  Symbol and/or name change 5135510 APPROVED