PTHLH (parathyroid hormone like hormone) - Rat Genome Database

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Gene: PTHLH (parathyroid hormone like hormone) Homo sapiens
Analyze
Symbol: PTHLH
Name: parathyroid hormone like hormone
RGD ID: 736996
HGNC Page HGNC:9607
Description: Enables peptide hormone receptor binding activity. Acts upstream of or within several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; negative regulation of chondrocyte development; and skeletal system development. Located in Golgi apparatus; cytosol; and nucleoplasm. Implicated in brachydactyly type E2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDE2; HHM; MGC14611; osteostatin; parathyroid hormone-like hormone; parathyroid hormone-like hormone preproprotein; parathyroid hormone-like peptide; parathyroid hormone-like related protein; parathyroid hormone-related protein; parathyroid hormone-related protein preproprotein; PLP; PTH-related protein; PTH-rP; PTHR; PTHRP
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
GRCh381227,958,084 - 27,972,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1227,958,084 - 27,972,733 (-)EnsemblGRCh38hg38GRCh38
GRCh371228,111,017 - 28,125,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361228,002,284 - 28,016,183 (-)NCBINCBI36Build 36hg18NCBI36
Build 341228,002,283 - 28,014,161NCBI
Celera1233,256,594 - 33,270,557 (-)NCBICelera
Cytogenetic Map12p11.22NCBI
HuRef1227,880,337 - 27,894,279 (-)NCBIHuRef
CHM1_11228,076,045 - 28,089,944 (-)NCBICHM1_1
T2T-CHM13v2.01227,829,831 - 27,844,463 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(E)-thiamethoxam  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
1-Oleoyl-2-acetyl-sn-glycerol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3',5'-cyclic AMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-nitroquinoline N-oxide  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
betulinic acid  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bortezomib  (EXP)
butan-1-ol  (EXP)
butane-2,3-dione  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
calcium carbonate  (EXP)
candesartan  (ISO)
ceruletide  (EXP,ISO)
CGP 52608  (EXP)
chloroethene  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
cobalt atom  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
enalapril  (ISO)
ethanol  (EXP,ISO)
folic acid  (ISO)
formaldehyde  (ISO)
geldanamycin  (EXP)
gentamycin  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
leflunomide  (EXP)
losartan  (ISO)
manganese(II) chloride  (ISO)
mercury dichloride  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-Nitrosopyrrolidine  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ozone  (EXP)
paracetamol  (EXP)
pentane-2,3-dione  (EXP)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
potassium chromate  (EXP)
progesterone  (EXP,ISO)
quercetin  (EXP)
quinapril hydrochloride  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
Soman  (ISO)
styrene  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (EXP)
telmisartan  (ISO)
temozolomide  (EXP)
testosterone  (EXP,ISO)
thiamethoxam  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
undecane  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. TGFbeta2 mediates the effects of hedgehog on hypertrophic differentiation and PTHrP expression. Alvarez J, etal., Development. 2002 Apr;129(8):1913-24.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:90087   PMID:1915066   PMID:1954916   PMID:2288637   PMID:2549037   PMID:2708388   PMID:2744490   PMID:2829195   PMID:2885845   PMID:2928340   PMID:3290897   PMID:3616618  
PMID:7708054   PMID:8058749   PMID:8396010   PMID:8641188   PMID:8683730   PMID:8753751   PMID:8982748   PMID:9008714   PMID:9048639   PMID:9108031   PMID:9144344   PMID:9391077  
PMID:9801466   PMID:9832460   PMID:10050767   PMID:10066803   PMID:10373465   PMID:10773581   PMID:10803599   PMID:10828849   PMID:10873655   PMID:10947864   PMID:11159841   PMID:11401507  
PMID:11456271   PMID:11997185   PMID:12000745   PMID:12036966   PMID:12201218   PMID:12210735   PMID:12220636   PMID:12359237   PMID:12364464   PMID:12374685   PMID:12391194   PMID:12477932  
PMID:12504010   PMID:12538599   PMID:12549623   PMID:12576923   PMID:12581888   PMID:12586762   PMID:12647214   PMID:12727200   PMID:12850281   PMID:12850290   PMID:12852260   PMID:12929929  
PMID:12933685   PMID:12947048   PMID:14503917   PMID:14969386   PMID:15023531   PMID:15128746   PMID:15210588   PMID:15282196   PMID:15286039   PMID:15291755   PMID:15489334   PMID:15582709  
PMID:15629138   PMID:15878959   PMID:15889157   PMID:16298826   PMID:16455237   PMID:16500729   PMID:16551631   PMID:16965770   PMID:17213971   PMID:17370040   PMID:17390372   PMID:17426287  
PMID:17443683   PMID:17516841   PMID:17964713   PMID:18007586   PMID:18029348   PMID:18035481   PMID:18096456   PMID:18240029   PMID:18280230   PMID:18379031   PMID:18426836   PMID:18541021  
PMID:18621740   PMID:18627264   PMID:18651620   PMID:18695921   PMID:18729185   PMID:19056930   PMID:19190955   PMID:19240061   PMID:19304784   PMID:19342773   PMID:19350667   PMID:19453261  
PMID:19487464   PMID:19507249   PMID:19519497   PMID:19584267   PMID:19587161   PMID:19596235   PMID:19616583   PMID:19674967   PMID:19727413   PMID:19730683   PMID:19825997   PMID:19913121  
PMID:19952062   PMID:19959711   PMID:20015959   PMID:20035059   PMID:20049852   PMID:20060342   PMID:20082139   PMID:20170896   PMID:20401668   PMID:20428761   PMID:20496422   PMID:20556927  
PMID:20628086   PMID:20844958   PMID:20876711   PMID:20890111   PMID:21068146   PMID:21082660   PMID:21085597   PMID:21402056   PMID:21444150   PMID:21532883   PMID:21625386   PMID:21664243  
PMID:21732369   PMID:21775817   PMID:21826652   PMID:21873635   PMID:21942940   PMID:22056386   PMID:22199357   PMID:22291434   PMID:22318950   PMID:22448974   PMID:22508574   PMID:22745236  
PMID:22747683   PMID:22790219   PMID:22830401   PMID:22955522   PMID:22960231   PMID:22997493   PMID:23109045   PMID:23458685   PMID:23466453   PMID:23494914   PMID:23499737   PMID:23535729  
PMID:23535733   PMID:23588777   PMID:23625795   PMID:23662774   PMID:23752183   PMID:23780896   PMID:23810363   PMID:23810909   PMID:23822995   PMID:23845990   PMID:23983616   PMID:24072746  
PMID:24325915   PMID:24388013   PMID:24465715   PMID:24590291   PMID:24725082   PMID:24836507   PMID:24861371   PMID:24870837   PMID:24945404   PMID:24973691   PMID:25007883   PMID:25043053  
PMID:25051885   PMID:25053227   PMID:25064007   PMID:25252304   PMID:25359619   PMID:25368276   PMID:25539663   PMID:25801215   PMID:26562265   PMID:26597083   PMID:26640227   PMID:26733284  
PMID:26763883   PMID:26855372   PMID:27316348   PMID:27368119   PMID:28120940   PMID:28211986   PMID:28342003   PMID:28370412   PMID:28385776   PMID:28408643   PMID:28954822   PMID:29499646  
PMID:29577935   PMID:29947179   PMID:30095215   PMID:30097435   PMID:30458061   PMID:30465089   PMID:30639585   PMID:30689168   PMID:30803154   PMID:30949498   PMID:31293052   PMID:31623502  
PMID:32108533   PMID:32710187   PMID:33640382   PMID:33781836   PMID:33981811   PMID:34024253   PMID:34734526   PMID:34887626   PMID:34897794   PMID:36482064   PMID:36858515   PMID:37664938  
PMID:38407575   PMID:38552853  


Genomics

Comparative Map Data
PTHLH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381227,958,084 - 27,972,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1227,958,084 - 27,972,733 (-)EnsemblGRCh38hg38GRCh38
GRCh371228,111,017 - 28,125,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361228,002,284 - 28,016,183 (-)NCBINCBI36Build 36hg18NCBI36
Build 341228,002,283 - 28,014,161NCBI
Celera1233,256,594 - 33,270,557 (-)NCBICelera
Cytogenetic Map12p11.22NCBI
HuRef1227,880,337 - 27,894,279 (-)NCBIHuRef
CHM1_11228,076,045 - 28,089,944 (-)NCBICHM1_1
T2T-CHM13v2.01227,829,831 - 27,844,463 (-)NCBIT2T-CHM13v2.0
Pthlh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396147,153,607 - 147,165,511 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6147,153,599 - 147,165,681 (-)EnsemblGRCm39 Ensembl
GRCm386147,252,109 - 147,264,013 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6147,252,101 - 147,264,183 (-)EnsemblGRCm38mm10GRCm38
MGSCv376147,200,632 - 147,212,607 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366147,209,270 - 147,221,371 (-)NCBIMGSCv36mm8
Celera6150,289,180 - 150,301,102 (-)NCBICelera
Cytogenetic Map6G3NCBI
cM Map678.19NCBI
Pthlh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84181,919,400 - 181,930,454 (-)NCBIGRCr8
mRatBN7.24180,188,792 - 180,199,847 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4180,188,792 - 180,199,847 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4186,472,387 - 186,483,481 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04182,256,935 - 182,268,028 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04180,877,368 - 180,888,461 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04181,663,425 - 181,674,181 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04245,811,895 - 245,822,651 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44184,887,702 - 184,898,841 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14185,132,825 - 185,143,965 (-)NCBI
Celera4168,675,915 - 168,686,473 (-)NCBICelera
RH 3.4 Map41091.1RGD
Cytogenetic Map4q44NCBI
Pthlh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555056,834,533 - 6,847,335 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555056,834,533 - 6,846,909 (+)NCBIChiLan1.0ChiLan1.0
PTHLH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21068,846,032 - 68,858,167 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11268,842,410 - 68,854,564 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01258,341,361 - 58,355,804 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11260,959,327 - 60,973,749 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1260,960,071 - 60,973,750 (+)Ensemblpanpan1.1panPan2
PTHLH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12719,781,557 - 19,795,078 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2719,781,557 - 19,795,078 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2726,604,753 - 26,729,826 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02719,869,742 - 19,989,315 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2719,975,781 - 19,989,312 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12719,676,917 - 19,795,837 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02719,703,486 - 19,822,427 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02726,761,823 - 26,881,419 (-)NCBIUU_Cfam_GSD_1.0
Pthlh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494581,724,063 - 81,735,818 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936760197,525 - 209,518 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936760197,525 - 209,212 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTHLH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl545,751,292 - 45,763,415 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1545,750,968 - 45,763,421 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2549,159,951 - 49,172,393 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTHLH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11127,682,300 - 27,694,808 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1127,682,338 - 27,694,898 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660697,351,760 - 7,364,353 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pthlh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247788,008,056 - 8,019,612 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247788,007,358 - 8,019,538 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTHLH
77 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198965.2(PTHLH):c.179T>C (p.Leu60Pro) single nucleotide variant Brachydactyly type E2 [RCV000014745] Chr12:27963693 [GRCh38]
Chr12:28116626 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.131T>C (p.Leu44Pro) single nucleotide variant Brachydactyly type E2 [RCV000014746] Chr12:27963741 [GRCh38]
Chr12:28116674 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.534A>G (p.Ter178Trp) single nucleotide variant Brachydactyly type E2 [RCV000014747] Chr12:27958559 [GRCh38]
Chr12:28111492 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.358A>T (p.Lys120Ter) single nucleotide variant Brachydactyly type E2 [RCV000014748] Chr12:27963514 [GRCh38]
Chr12:28116447 [GRCh37]
Chr12:12p11.22		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_002820.2(PTHLH):c.525G>A (p.Arg175=) single nucleotide variant Malignant melanoma [RCV000069954] Chr12:27963347 [GRCh38]
Chr12:28116280 [GRCh37]
Chr12:28007547 [NCBI36]
Chr12:12p11.22		 not provided
GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 copy number loss See cases [RCV000133858] Chr12:25263833..34064528 [GRCh38]
Chr12:25416767..34217463 [GRCh37]
Chr12:25308034..34108730 [NCBI36]
Chr12:12p12.1-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_198965.2(PTHLH):c.408G>A (p.Gln136=) single nucleotide variant not provided [RCV000315683] Chr12:27963464 [GRCh38]
Chr12:28116397 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.7C>T (p.Arg3Trp) single nucleotide variant not provided [RCV000267382] Chr12:27969488 [GRCh38]
Chr12:28122421 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_198965.2(PTHLH):c.524+2T>C single nucleotide variant Inborn genetic diseases [RCV000622612] Chr12:27963346 [GRCh38]
Chr12:28116279 [GRCh37]
Chr12:12p11.22		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_198965.2(PTHLH):c.44T>G (p.Leu15Arg) single nucleotide variant Brachydactyly type E2 [RCV001553657] Chr12:27969451 [GRCh38]
Chr12:28122384 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.63C>T (p.Pro21=) single nucleotide variant not provided [RCV000898461] Chr12:27969432 [GRCh38]
Chr12:28122365 [GRCh37]
Chr12:12p11.22		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_198965.2(PTHLH):c.524+219C>T single nucleotide variant not provided [RCV001575832] Chr12:27963129 [GRCh38]
Chr12:28116062 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.524+170G>A single nucleotide variant not provided [RCV001556443] Chr12:27963178 [GRCh38]
Chr12:28116111 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.*172dup duplication not provided [RCV001689253] Chr12:27958386..27958387 [GRCh38]
Chr12:28111319..28111320 [GRCh37]
Chr12:12p11.22		 benign
NM_198965.2(PTHLH):c.276C>G (p.Pro92=) single nucleotide variant not provided [RCV000977863] Chr12:27963596 [GRCh38]
Chr12:28116529 [GRCh37]
Chr12:12p11.22		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_198965.2(PTHLH):c.447C>G (p.Asp149Glu) single nucleotide variant not provided [RCV000890129] Chr12:27963425 [GRCh38]
Chr12:28116358 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.524+224G>A single nucleotide variant not provided [RCV001557477] Chr12:27963124 [GRCh38]
Chr12:28116057 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.-22-213_-22-208del deletion not provided [RCV001611493] Chr12:27969724..27969729 [GRCh38]
Chr12:28122657..28122662 [GRCh37]
Chr12:12p11.22		 benign
NM_198965.2(PTHLH):c.525-2A>C single nucleotide variant not provided [RCV001889595] Chr12:27958570 [GRCh38]
Chr12:28111503 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.-1G>A single nucleotide variant PTHLH-related condition [RCV003966151]|not provided [RCV001531149] Chr12:27969495 [GRCh38]
Chr12:28122428 [GRCh37]
Chr12:12p11.22		 likely benign|uncertain significance
NM_198965.2(PTHLH):c.-22-36A>T single nucleotide variant Brachydactyly type E2 [RCV001796648]|not provided [RCV001651924] Chr12:27969552 [GRCh38]
Chr12:28122485 [GRCh37]
Chr12:12p11.22		 benign
NM_198965.2(PTHLH):c.101+225G>C single nucleotide variant not provided [RCV001716393] Chr12:27969169 [GRCh38]
Chr12:28122102 [GRCh37]
Chr12:12p11.22		 benign
NM_198965.2(PTHLH):c.479A>C (p.Asp160Ala) single nucleotide variant not provided [RCV001763784] Chr12:27963393 [GRCh38]
Chr12:28116326 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.128T>C (p.Leu43Pro) single nucleotide variant not provided [RCV001758117] Chr12:27963744 [GRCh38]
Chr12:28116677 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.499A>G (p.Thr167Ala) single nucleotide variant not provided [RCV001896226] Chr12:27963373 [GRCh38]
Chr12:28116306 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.309C>G (p.Tyr103Ter) single nucleotide variant not provided [RCV002007143] Chr12:27963563 [GRCh38]
Chr12:28116496 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.458C>G (p.Thr153Ser) single nucleotide variant not provided [RCV002044506] Chr12:27963414 [GRCh38]
Chr12:28116347 [GRCh37]
Chr12:12p11.22		 uncertain significance
NC_000012.11:g.(?_28111492)_(28122427_?)dup duplication not provided [RCV001982884] Chr12:28111492..28122427 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.167G>A (p.Arg56Gln) single nucleotide variant not provided [RCV001892689] Chr12:27963705 [GRCh38]
Chr12:28116638 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1 copy number loss not provided [RCV001827630] Chr12:23693737..29545102 [GRCh37]
Chr12:12p12.1-11.22		 pathogenic
NM_198965.2(PTHLH):c.422G>A (p.Arg141Gln) single nucleotide variant not provided [RCV001969517] Chr12:27963450 [GRCh38]
Chr12:28116383 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_198965.2(PTHLH):c.271C>T (p.His91Tyr) single nucleotide variant not provided [RCV001903760] Chr12:27963601 [GRCh38]
Chr12:28116534 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.95G>A (p.Arg32His) single nucleotide variant not provided [RCV002046846] Chr12:27969400 [GRCh38]
Chr12:28122333 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.50G>A (p.Ser17Asn) single nucleotide variant not provided [RCV002013618] Chr12:27969445 [GRCh38]
Chr12:28122378 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.207del (p.Ala70fs) deletion not provided [RCV001972297] Chr12:27963665 [GRCh38]
Chr12:28116598 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.181C>T (p.His61Tyr) single nucleotide variant not provided [RCV002029018] Chr12:27963691 [GRCh38]
Chr12:28116624 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.85G>A (p.Gly29Ser) single nucleotide variant not provided [RCV001938702] Chr12:27969410 [GRCh38]
Chr12:28122343 [GRCh37]
Chr12:12p11.22		 uncertain significance
NC_000012.11:g.(?_28111492)_(28122427_?)del deletion not provided [RCV001956551] Chr12:28111492..28122427 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.279C>A (p.Val93=) single nucleotide variant not provided [RCV002089921] Chr12:27963593 [GRCh38]
Chr12:28116526 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.357C>T (p.Leu119=) single nucleotide variant not provided [RCV002174933] Chr12:27963515 [GRCh38]
Chr12:28116448 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.421C>A (p.Arg141=) single nucleotide variant not provided [RCV002195685] Chr12:27963451 [GRCh38]
Chr12:28116384 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.524+15T>G single nucleotide variant not provided [RCV002114433] Chr12:27963333 [GRCh38]
Chr12:28116266 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.348G>A (p.Glu116=) single nucleotide variant not provided [RCV002181150] Chr12:27963524 [GRCh38]
Chr12:28116457 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.141G>A (p.Lys47=) single nucleotide variant not provided [RCV003110326] Chr12:27963731 [GRCh38]
Chr12:28116664 [GRCh37]
Chr12:12p11.22		 likely benign
NC_000012.11:g.(?_27869224)_(28123052_?)dup duplication not provided [RCV003113992] Chr12:27869224..28123052 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p11.22(chr12:28094908-28175040)x1 copy number loss not provided [RCV002472566] Chr12:28094908..28175040 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.169C>T (p.Arg57Ter) single nucleotide variant not provided [RCV003074959] Chr12:27963703 [GRCh38]
Chr12:28116636 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.241A>G (p.Asn81Asp) single nucleotide variant not provided [RCV002636075] Chr12:27963631 [GRCh38]
Chr12:28116564 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.133C>T (p.His45Tyr) single nucleotide variant not provided [RCV002858189] Chr12:27963739 [GRCh38]
Chr12:28116672 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.42C>A (p.Phe14Leu) single nucleotide variant not provided [RCV002570006] Chr12:27969453 [GRCh38]
Chr12:28122386 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.224C>T (p.Thr75Ile) single nucleotide variant Inborn genetic diseases [RCV002909968]|not provided [RCV002909967] Chr12:27963648 [GRCh38]
Chr12:28116581 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.503C>T (p.Thr168Met) single nucleotide variant not provided [RCV002621206] Chr12:27963369 [GRCh38]
Chr12:28116302 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.330G>A (p.Lys110=) single nucleotide variant not provided [RCV002573688] Chr12:27963542 [GRCh38]
Chr12:28116475 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.54C>A (p.Tyr18Ter) single nucleotide variant not provided [RCV003042094] Chr12:27969441 [GRCh38]
Chr12:28122374 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.65C>T (p.Ser22Phe) single nucleotide variant not provided [RCV002596006] Chr12:27969430 [GRCh38]
Chr12:28122363 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.347A>G (p.Glu116Gly) single nucleotide variant Inborn genetic diseases [RCV002788814] Chr12:27963525 [GRCh38]
Chr12:28116458 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.160T>C (p.Leu54=) single nucleotide variant not provided [RCV002801578] Chr12:27963712 [GRCh38]
Chr12:28116645 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV002894739] Chr12:27969494 [GRCh38]
Chr12:28122427 [GRCh37]
Chr12:12p11.22		 likely pathogenic
NM_198965.2(PTHLH):c.431G>A (p.Arg144His) single nucleotide variant not provided [RCV003031445] Chr12:27963441 [GRCh38]
Chr12:28116374 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.114G>A (p.Val38=) single nucleotide variant not provided [RCV002671748] Chr12:27963758 [GRCh38]
Chr12:28116691 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.246C>G (p.Ser82=) single nucleotide variant not provided [RCV002922250] Chr12:27963626 [GRCh38]
Chr12:28116559 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.338C>T (p.Thr113Met) single nucleotide variant not provided [RCV003086647] Chr12:27963534 [GRCh38]
Chr12:28116467 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.390C>T (p.Pro130=) single nucleotide variant not provided [RCV002580648] Chr12:27963482 [GRCh38]
Chr12:28116415 [GRCh37]
Chr12:12p11.22		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_198965.2(PTHLH):c.506C>T (p.Ser169Leu) single nucleotide variant Inborn genetic diseases [RCV003358587] Chr12:27963366 [GRCh38]
Chr12:28116299 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.23_24delinsCC (p.Gln8Pro) indel not provided [RCV003686424] Chr12:27969471..27969472 [GRCh38]
Chr12:28122404..28122405 [GRCh37]
Chr12:12p11.22		 uncertain significance
GRCh37/hg19 12p11.23-11.22(chr12:27514172-29338877)x4 copy number gain not provided [RCV003485359] Chr12:27514172..29338877 [GRCh37]
Chr12:12p11.23-11.22		 likely pathogenic
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_198965.2(PTHLH):c.481_482insT (p.His161fs) insertion PTHLH-related condition [RCV003411992] Chr12:27963390..27963391 [GRCh38]
Chr12:28116323..28116324 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.339G>A (p.Thr113=) single nucleotide variant not provided [RCV003825858] Chr12:27963533 [GRCh38]
Chr12:28116466 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.466G>A (p.Gly156Arg) single nucleotide variant not provided [RCV003713543] Chr12:27963406 [GRCh38]
Chr12:28116339 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003689606] Chr12:27969494 [GRCh38]
Chr12:28122427 [GRCh37]
Chr12:12p11.22		 likely pathogenic
NM_198965.2(PTHLH):c.433T>C (p.Ser145Pro) single nucleotide variant not provided [RCV003691302] Chr12:27963439 [GRCh38]
Chr12:28116372 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.130C>T (p.Leu44Phe) single nucleotide variant not provided [RCV003713523] Chr12:27963742 [GRCh38]
Chr12:28116675 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.121C>T (p.His41Tyr) single nucleotide variant not provided [RCV003829482] Chr12:27963751 [GRCh38]
Chr12:28116684 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.430C>G (p.Arg144Gly) single nucleotide variant not provided [RCV003579055] Chr12:27963442 [GRCh38]
Chr12:28116375 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.178_181del (p.Leu60fs) microsatellite not provided [RCV003573045] Chr12:27963691..27963694 [GRCh38]
Chr12:28116624..28116627 [GRCh37]
Chr12:12p11.22		 pathogenic
NM_198965.2(PTHLH):c.365C>A (p.Pro122His) single nucleotide variant not provided [RCV003580342] Chr12:27963507 [GRCh38]
Chr12:28116440 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.34G>A (p.Ala12Thr) single nucleotide variant not provided [RCV003854450] Chr12:27969461 [GRCh38]
Chr12:28122394 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.525G>A (p.Arg175=) single nucleotide variant not provided [RCV003717459] Chr12:27958568 [GRCh38]
Chr12:28111501 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.485T>C (p.Leu162Pro) single nucleotide variant not provided [RCV003671439] Chr12:27963387 [GRCh38]
Chr12:28116320 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.261C>A (p.Asn87Lys) single nucleotide variant not provided [RCV003724934] Chr12:27963611 [GRCh38]
Chr12:28116544 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.366T>C (p.Pro122=) single nucleotide variant not provided [RCV003676251] Chr12:27963506 [GRCh38]
Chr12:28116439 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.102-14A>G single nucleotide variant not provided [RCV003718795] Chr12:27963784 [GRCh38]
Chr12:28116717 [GRCh37]
Chr12:12p11.22		 likely benign
NM_198965.2(PTHLH):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003685062] Chr12:27969493 [GRCh38]
Chr12:28122426 [GRCh37]
Chr12:12p11.22		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_198965.2(PTHLH):c.287G>T (p.Gly96Val) single nucleotide variant not provided [RCV003853194] Chr12:27963585 [GRCh38]
Chr12:28116518 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.409G>A (p.Glu137Lys) single nucleotide variant not provided [RCV003677910] Chr12:27963463 [GRCh38]
Chr12:28116396 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.233T>C (p.Val78Ala) single nucleotide variant Inborn genetic diseases [RCV004442878] Chr12:27963639 [GRCh38]
Chr12:28116572 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.331G>A (p.Val111Met) single nucleotide variant Inborn genetic diseases [RCV004442879] Chr12:27963541 [GRCh38]
Chr12:28116474 [GRCh37]
Chr12:12p11.22		 uncertain significance
NM_198965.2(PTHLH):c.475G>A (p.Gly159Arg) single nucleotide variant PTHLH-related condition [RCV003949562] Chr12:27963397 [GRCh38]
Chr12:28116330 [GRCh37]
Chr12:12p11.22		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR33Ahsa-miR-33a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23453925
MIR33Ahsa-miR-33a-5pOncomiRDBexternal_infoNANA23458685

Predicted Target Of
Summary Value
Count of predictions:2016
Count of miRNA genes:761
Interacting mature miRNAs:864
Transcripts:ENST00000201015, ENST00000354417, ENST00000395868, ENST00000395872, ENST00000534890, ENST00000535992, ENST00000538310, ENST00000539239, ENST00000542963, ENST00000545234
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.

Markers in Region
WI-9193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,116,081 - 28,116,205UniSTSGRCh37
Build 361228,007,348 - 28,007,472RGDNCBI36
Celera1233,261,721 - 33,261,845RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,885,464 - 27,885,588UniSTS
Whitehead-YAC Contig Map12 UniSTS
SHGC-17539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,115,019 - 28,115,243UniSTSGRCh37
Build 361228,006,286 - 28,006,510RGDNCBI36
Celera1233,260,659 - 33,260,883RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,884,402 - 27,884,626UniSTS
Marshfield Genetic Map1248.7UniSTS
Whitehead-RH Map12178.9UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12297.1UniSTS
STS-AA035272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,116,387 - 28,116,523UniSTSGRCh37
Build 361228,007,654 - 28,007,790RGDNCBI36
Celera1233,262,027 - 33,262,163RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,885,770 - 27,885,906UniSTS
GeneMap99-GB4 RH Map12124.19UniSTS
NCBI RH Map12322.1UniSTS
G60028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,115,568 - 28,115,917UniSTSGRCh37
Build 361228,006,835 - 28,007,184RGDNCBI36
Celera1233,261,208 - 33,261,557RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,884,951 - 27,885,300UniSTS
TNG Radiation Hybrid Map1212716.0UniSTS
G63001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,119,382 - 28,119,712UniSTSGRCh37
Build 361228,010,649 - 28,010,979RGDNCBI36
Celera1233,265,022 - 33,265,352RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,888,745 - 27,889,075UniSTS
TNG Radiation Hybrid Map1212716.0UniSTS
D12S1337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,115,058 - 28,115,306UniSTSGRCh37
Build 361228,006,325 - 28,006,573RGDNCBI36
Celera1233,260,698 - 33,260,946RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,884,441 - 27,884,689UniSTS
deCODE Assembly Map1250.66UniSTS
GDB:217131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,114,089 - 28,114,356UniSTSGRCh37
Build 361228,005,356 - 28,005,623RGDNCBI36
Celera1233,259,666 - 33,259,997RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,883,410 - 27,883,741UniSTS
D12S2029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,114,460 - 28,114,790UniSTSGRCh37
Build 361228,005,727 - 28,006,057RGDNCBI36
Celera1233,260,100 - 33,260,430RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,883,843 - 27,884,173UniSTS
Stanford-G3 RH Map124280.0UniSTS
GeneMap99-GB4 RH Map12105.2UniSTS
Whitehead-RH Map12183.3UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12322.1UniSTS
GeneMap99-G3 RH Map124226.0UniSTS
PMC123659P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,122,978 - 28,123,194UniSTSGRCh37
Build 361228,014,245 - 28,014,461RGDNCBI36
Celera1233,268,618 - 33,268,834RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,892,341 - 27,892,557UniSTS
PMC153548P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,125,583 - 28,125,660UniSTSGRCh37
Build 361228,016,850 - 28,016,927RGDNCBI36
Celera1233,271,224 - 33,271,301RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,894,946 - 27,895,023UniSTS
PTHLH_2350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,115,212 - 28,115,891UniSTSGRCh37
Build 361228,006,479 - 28,007,158RGDNCBI36
Celera1233,260,852 - 33,261,531RGD
HuRef1227,884,595 - 27,885,274UniSTS
STS-M24351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,110,929 - 28,111,161UniSTSGRCh37
Build 361228,002,196 - 28,002,428RGDNCBI36
Celera1233,256,506 - 33,256,738RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,880,249 - 27,880,481UniSTS
GeneMap99-GB4 RH Map12122.46UniSTS
NCBI RH Map12322.1UniSTS
RH48084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,116,466 - 28,116,612UniSTSGRCh37
Build 361228,007,733 - 28,007,879RGDNCBI36
Celera1233,262,106 - 33,262,252RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,885,849 - 27,885,995UniSTS
GeneMap99-GB4 RH Map12105.2UniSTS
NCBI RH Map12322.1UniSTS
RH48408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,115,384 - 28,115,517UniSTSGRCh37
Build 361228,006,651 - 28,006,784RGDNCBI36
Celera1233,261,024 - 33,261,157RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,884,767 - 27,884,900UniSTS
GeneMap99-GB4 RH Map12105.2UniSTS
NCBI RH Map12322.1UniSTS
D12S1941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,111,152 - 28,111,483UniSTSGRCh37
Build 361228,002,419 - 28,002,750RGDNCBI36
Celera1233,256,729 - 33,257,060RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,880,472 - 27,880,804UniSTS
TNG Radiation Hybrid Map1212706.0UniSTS
Stanford-G3 RH Map121323.0UniSTS
GeneMap99-GB4 RH Map12105.26UniSTS
Whitehead-RH Map12182.8UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map121323.0UniSTS
RH17692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,114,653 - 28,114,791UniSTSGRCh37
Build 361228,005,920 - 28,006,058RGDNCBI36
Celera1233,260,293 - 33,260,431RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,884,036 - 27,884,174UniSTS
GeneMap99-GB4 RH Map12105.2UniSTS
NCBI RH Map12322.1UniSTS
STS-J03802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,116,068 - 28,116,216UniSTSGRCh37
Build 361228,007,335 - 28,007,483RGDNCBI36
Celera1233,261,708 - 33,261,856RGD
Cytogenetic Map12p12.1-p11.2UniSTS
HuRef1227,885,451 - 27,885,599UniSTS
GeneMap99-GB4 RH Map12105.26UniSTS
NCBI RH Map12322.1UniSTS
PTHLH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,111,212 - 28,111,394UniSTSGRCh37
Build 361228,002,479 - 28,002,661RGDNCBI36
Celera1233,256,789 - 33,256,971RGD
HuRef1227,880,532 - 27,880,715UniSTS


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
Medium 78 78 35 30 15 22 78 69 73 54 118 84 16 16 57
Low 1587 1527 795 214 349 65 2659 795 2705 179 1109 1010 155 1 885 1669 1
Below cutoff 721 887 796 289 728 289 1440 1197 921 175 212 489 1 302 952 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI569027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI591151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI760061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG676028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG679319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG680355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI752853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI963162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M17183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000201015   ⟹   ENSP00000201015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,962,322 - 27,971,983 (-)Ensembl
RefSeq Acc Id: ENST00000395868   ⟹   ENSP00000379209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,962,587 - 27,970,047 (-)Ensembl
RefSeq Acc Id: ENST00000395872   ⟹   ENSP00000379213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,958,084 - 27,971,970 (-)Ensembl
RefSeq Acc Id: ENST00000534890   ⟹   ENSP00000445157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,963,563 - 27,970,134 (-)Ensembl
RefSeq Acc Id: ENST00000535992   ⟹   ENSP00000440613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,962,328 - 27,970,349 (-)Ensembl
RefSeq Acc Id: ENST00000538310   ⟹   ENSP00000441890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,961,668 - 27,969,494 (-)Ensembl
RefSeq Acc Id: ENST00000539239   ⟹   ENSP00000441571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,958,270 - 27,969,561 (-)Ensembl
RefSeq Acc Id: ENST00000542963   ⟹   ENSP00000444519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,963,356 - 27,970,277 (-)Ensembl
RefSeq Acc Id: ENST00000545234   ⟹   ENSP00000441765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1227,958,084 - 27,972,733 (-)Ensembl
RefSeq Acc Id: NM_002820   ⟹   NP_002811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,962,321 - 27,972,022 (-)NCBI
GRCh371228,111,017 - 28,125,664 (-)NCBI
Build 361228,006,521 - 28,016,183 (-)NCBI Archive
HuRef1227,880,337 - 27,894,279 (-)ENTREZGENE
CHM1_11228,080,282 - 28,089,944 (-)NCBI
T2T-CHM13v2.01227,834,056 - 27,843,753 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198964   ⟹   NP_945315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,962,321 - 27,969,976 (-)NCBI
GRCh371228,111,017 - 28,125,664 (-)NCBI
Build 361228,006,521 - 28,014,161 (-)NCBI Archive
HuRef1227,880,337 - 27,894,279 (-)ENTREZGENE
CHM1_11228,080,282 - 28,087,922 (-)NCBI
T2T-CHM13v2.01227,834,056 - 27,841,707 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198965   ⟹   NP_945316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,958,084 - 27,972,733 (-)NCBI
GRCh371228,111,017 - 28,125,664 (-)NCBI
Build 361228,002,284 - 28,016,183 (-)NCBI Archive
HuRef1227,880,337 - 27,894,279 (-)ENTREZGENE
CHM1_11228,076,045 - 28,089,944 (-)NCBI
T2T-CHM13v2.01227,829,831 - 27,844,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198966   ⟹   NP_945317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,958,084 - 27,969,976 (-)NCBI
GRCh371228,111,017 - 28,125,664 (-)NCBI
Build 361228,002,284 - 28,014,161 (-)NCBI Archive
HuRef1227,880,337 - 27,894,279 (-)ENTREZGENE
CHM1_11228,076,045 - 28,087,922 (-)NCBI
T2T-CHM13v2.01227,829,831 - 27,841,707 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019675   ⟹   XP_016875164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,958,084 - 27,972,733 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429178   ⟹   XP_047285134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,958,084 - 27,970,280 (-)NCBI
RefSeq Acc Id: XM_047429179   ⟹   XP_047285135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,958,084 - 27,972,733 (-)NCBI
RefSeq Acc Id: XM_054372610   ⟹   XP_054228585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01227,829,831 - 27,844,463 (-)NCBI
RefSeq Acc Id: XM_054372611   ⟹   XP_054228586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01227,829,831 - 27,843,161 (-)NCBI
RefSeq Acc Id: XM_054372612   ⟹   XP_054228587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01227,829,831 - 27,844,463 (-)NCBI
Protein Sequences
Protein RefSeqs NP_002811 (Get FASTA)   NCBI Sequence Viewer  
  NP_945315 (Get FASTA)   NCBI Sequence Viewer  
  NP_945316 (Get FASTA)   NCBI Sequence Viewer  
  NP_945317 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875164 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285134 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228585 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228586 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228587 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60216 (Get FASTA)   NCBI Sequence Viewer  
  AAA60217 (Get FASTA)   NCBI Sequence Viewer  
  AAA60218 (Get FASTA)   NCBI Sequence Viewer  
  AAA60221 (Get FASTA)   NCBI Sequence Viewer  
  AAA60358 (Get FASTA)   NCBI Sequence Viewer  
  AAA60359 (Get FASTA)   NCBI Sequence Viewer  
  AAA60360 (Get FASTA)   NCBI Sequence Viewer  
  AAH05961 (Get FASTA)   NCBI Sequence Viewer  
  AAN76483 (Get FASTA)   NCBI Sequence Viewer  
  AAO49791 (Get FASTA)   NCBI Sequence Viewer  
  AAO49793 (Get FASTA)   NCBI Sequence Viewer  
  AAP35842 (Get FASTA)   NCBI Sequence Viewer  
  BAG36261 (Get FASTA)   NCBI Sequence Viewer  
  CAA32480 (Get FASTA)   NCBI Sequence Viewer  
  CAG46680 (Get FASTA)   NCBI Sequence Viewer  
  EAW96572 (Get FASTA)   NCBI Sequence Viewer  
  EAW96573 (Get FASTA)   NCBI Sequence Viewer  
  EAW96574 (Get FASTA)   NCBI Sequence Viewer  
  EAW96575 (Get FASTA)   NCBI Sequence Viewer  
  EAW96576 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000201015
  ENSP00000201015.4
  ENSP00000379209
  ENSP00000379209.3
  ENSP00000379213
  ENSP00000379213.1
  ENSP00000440613.1
  ENSP00000441571.1
  ENSP00000441765
  ENSP00000441765.1
  ENSP00000441890.1
  ENSP00000444519.1
  ENSP00000445157.1
GenBank Protein P12272 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_945316   ⟸   NM_198965
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   F5GZD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_945317   ⟸   NM_198966
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   F5GZD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002811   ⟸   NM_002820
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q53XY9 (UniProtKB/TrEMBL),   F5GZD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_945315   ⟸   NM_198964
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q53XY9 (UniProtKB/TrEMBL),   F5GZD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875164   ⟸   XM_017019675
- Peptide Label: isoform X1
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   F5GZD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000444519   ⟸   ENST00000542963
RefSeq Acc Id: ENSP00000201015   ⟸   ENST00000201015
RefSeq Acc Id: ENSP00000441765   ⟸   ENST00000545234
RefSeq Acc Id: ENSP00000445157   ⟸   ENST00000534890
RefSeq Acc Id: ENSP00000440613   ⟸   ENST00000535992
RefSeq Acc Id: ENSP00000441890   ⟸   ENST00000538310
RefSeq Acc Id: ENSP00000441571   ⟸   ENST00000539239
RefSeq Acc Id: ENSP00000379209   ⟸   ENST00000395868
RefSeq Acc Id: ENSP00000379213   ⟸   ENST00000395872
RefSeq Acc Id: XP_047285135   ⟸   XM_047429179
- Peptide Label: isoform X1
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285134   ⟸   XM_047429178
- Peptide Label: isoform X1
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054228587   ⟸   XM_054372612
- Peptide Label: isoform X1
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054228585   ⟸   XM_054372610
- Peptide Label: isoform X1
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054228586   ⟸   XM_054372611
- Peptide Label: isoform X1
- UniProtKB: Q15251 (UniProtKB/Swiss-Prot),   P12272 (UniProtKB/Swiss-Prot),   Q6FH74 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12272-F1-model_v2 AlphaFold P12272 1-177 view protein structure

Promoters
RGD ID:7223515
Promoter ID:EPDNEW_H17503
Type:initiation region
Name:PTHLH_2
Description:parathyroid hormone like hormone
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17504  EPDNEW_H17505  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,969,974 - 27,970,034EPDNEW
RGD ID:7223517
Promoter ID:EPDNEW_H17504
Type:initiation region
Name:PTHLH_1
Description:parathyroid hormone like hormone
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17503  EPDNEW_H17505  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,970,280 - 27,970,340EPDNEW
RGD ID:7223519
Promoter ID:EPDNEW_H17505
Type:initiation region
Name:PTHLH_3
Description:parathyroid hormone like hormone
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17503  EPDNEW_H17504  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381227,972,733 - 27,972,793EPDNEW
RGD ID:6790395
Promoter ID:HG_KWN:15258
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_198964,   NM_198966
Position:
Human AssemblyChrPosition (strand)Source
Build 361228,014,216 - 28,014,716 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9607 AgrOrtholog
COSMIC PTHLH COSMIC
Ensembl Genes ENSG00000087494 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000201015 ENTREZGENE
  ENST00000201015.8 UniProtKB/Swiss-Prot
  ENST00000395868 ENTREZGENE
  ENST00000395868.7 UniProtKB/Swiss-Prot
  ENST00000395872 ENTREZGENE
  ENST00000395872.5 UniProtKB/Swiss-Prot
  ENST00000534890.1 UniProtKB/TrEMBL
  ENST00000535992.5 UniProtKB/Swiss-Prot
  ENST00000538310.1 UniProtKB/Swiss-Prot
  ENST00000539239.5 UniProtKB/Swiss-Prot
  ENST00000542963.1 UniProtKB/TrEMBL
  ENST00000545234 ENTREZGENE
  ENST00000545234.6 UniProtKB/Swiss-Prot
GTEx ENSG00000087494 GTEx
HGNC ID HGNC:9607 ENTREZGENE
Human Proteome Map PTHLH Human Proteome Map
InterPro PTH-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTH/PTH-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5744 UniProtKB/Swiss-Prot
NCBI Gene 5744 ENTREZGENE
OMIM 168470 OMIM
PANTHER PARATHYROID HORMONE-RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR17223 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Parathyroid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33952 PharmGKB
PROSITE PARATHYROID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F5GZD9 ENTREZGENE, UniProtKB/TrEMBL
  F5H485_HUMAN UniProtKB/TrEMBL
  P12272 ENTREZGENE, UniProtKB/Swiss-Prot
  Q15251 ENTREZGENE
  Q15252_HUMAN UniProtKB/TrEMBL
  Q53XY9 ENTREZGENE, UniProtKB/TrEMBL
  Q6FH74 ENTREZGENE
UniProt Secondary Q15251 UniProtKB/Swiss-Prot
  Q6FH74 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 PTHLH  parathyroid hormone like hormone  PTHLH  parathyroid hormone-like hormone  Symbol and/or name change 5135510 APPROVED