PRLH (prolactin releasing hormone) - Rat Genome Database

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Gene: PRLH (prolactin releasing hormone) Homo sapiens
Analyze
Symbol: PRLH
Name: prolactin releasing hormone
RGD ID: 1352450
HGNC Page HGNC:17945
Description: Predicted to enable neuropeptide hormone activity and prolactin-releasing peptide receptor binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway; feeding behavior; and response to peptide hormone. Predicted to act upstream of or within several processes, including energy reserve metabolic process; reduction of food intake in response to dietary excess; and response to insulin. Predicted to be located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: preproprolactin-releasing peptide; PRH; prolactin-releasing hormone; prolactin-releasing peptide; PRRP
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
GRCh382237,566,574 - 237,567,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2237,566,574 - 237,567,175 (+)EnsemblGRCh38hg38GRCh38
GRCh372238,475,217 - 238,475,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,139,956 - 238,140,557 (+)NCBINCBI36Build 36hg18NCBI36
Build 342238,257,216 - 238,257,818NCBI
Celera2232,189,067 - 232,189,668 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2230,265,422 - 230,266,023 (+)NCBIHuRef
CHM1_12238,480,284 - 238,480,885 (+)NCBICHM1_1
T2T-CHM13v2.02238,056,486 - 238,057,087 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A prolactin-releasing peptide in the brain. Hinuma S, etal., Nature 1998 May 21;393(6682):272-6.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Mutated G-protein-coupled receptor GPR10 is responsible for the hyperphagia/dyslipidaemia/obesity locus of Dmo1 in the OLETF rat. Watanabe TK, etal., Clin Exp Pharmacol Physiol. 2005 May-Jun;32(5-6):355-66.
Additional References at PubMed
PMID:10475064   PMID:10498338   PMID:10599733   PMID:11030716   PMID:11523913   PMID:12126742   PMID:12477932   PMID:15489334   PMID:15891064   PMID:21873635   PMID:23426574   PMID:29233862  
PMID:34803923  


Genomics

Comparative Map Data
PRLH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382237,566,574 - 237,567,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2237,566,574 - 237,567,175 (+)EnsemblGRCh38hg38GRCh38
GRCh372238,475,217 - 238,475,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,139,956 - 238,140,557 (+)NCBINCBI36Build 36hg18NCBI36
Build 342238,257,216 - 238,257,818NCBI
Celera2232,189,067 - 232,189,668 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2230,265,422 - 230,266,023 (+)NCBIHuRef
CHM1_12238,480,284 - 238,480,885 (+)NCBICHM1_1
T2T-CHM13v2.02238,056,486 - 238,057,087 (+)NCBIT2T-CHM13v2.0
Prlh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39190,879,545 - 90,881,848 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl190,880,830 - 90,881,749 (+)EnsemblGRCm39 Ensembl
GRCm38190,951,709 - 90,954,121 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl190,953,108 - 90,954,027 (+)EnsemblGRCm38mm10GRCm38
MGSCv37192,849,685 - 92,850,589 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36192,783,514 - 92,784,418 (+)NCBIMGSCv36mm8
Celera193,898,334 - 93,899,238 (+)NCBICelera
Cytogenetic Map1DNCBI
cM Map145.81NCBI
Prlh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8998,991,628 - 98,996,515 (+)NCBIGRCr8
mRatBN7.2991,543,128 - 91,549,022 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl991,547,901 - 91,548,818 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx999,974,701 - 99,975,603 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09105,110,459 - 105,111,361 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09103,475,767 - 103,476,669 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0998,111,391 - 98,114,831 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl998,113,346 - 98,114,248 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0997,792,576 - 97,795,938 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4990,154,031 - 90,154,933 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1990,358,799 - 90,359,702 (+)NCBI
Celera989,092,213 - 89,093,115 (+)NCBICelera
Cytogenetic Map9q36NCBI
Prlh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555422,765,566 - 2,766,371 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555422,765,578 - 2,768,057 (-)NCBIChiLan1.0ChiLan1.0
PRLH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213140,195,064 - 140,195,667 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B140,210,031 - 140,210,634 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B124,795,504 - 124,796,107 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B243,646,264 - 243,646,867 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B243,642,958 - 243,646,867 (+)Ensemblpanpan1.1panPan2
PRLH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12548,180,216 - 48,181,105 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2548,178,598 - 48,181,155 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2548,677,054 - 48,677,829 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02548,565,268 - 48,566,043 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2548,563,863 - 48,566,138 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12548,441,177 - 48,441,952 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02548,229,703 - 48,230,478 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02548,461,481 - 48,462,257 (+)NCBIUU_Cfam_GSD_1.0
Prlh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303190,167,449 - 190,169,613 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936525770,177 - 770,863 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
PRLH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15137,230,247 - 137,230,954 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115137,230,209 - 137,232,178 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PRLH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366604075,831,696 - 75,832,476 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prlh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248472,960,750 - 2,961,324 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248472,960,750 - 2,961,324 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRLH
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1 copy number loss See cases [RCV000137411] Chr2:234058757..239443690 [GRCh38]
Chr2:234967401..240365384 [GRCh37]
Chr2:234632140..240030321 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1 copy number loss See cases [RCV000137830] Chr2:235757098..239443690 [GRCh38]
Chr2:236665742..240365384 [GRCh37]
Chr2:236330481..240030321 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238305415-238742983)x3 copy number gain Breast ductal adenocarcinoma [RCV000207230] Chr2:238305415..238742983 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280740] Chr2:236472789..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238475200-238475304)x3 copy number gain See cases [RCV000446319] Chr2:238475200..238475304 [GRCh37]
Chr2:2q37.3		 conflicting data from submitters
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238249548-238646119)x3 copy number gain See cases [RCV000446469] Chr2:238249548..238646119 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238025257-238525319)x3 copy number gain not provided [RCV000659212] Chr2:238025257..238525319 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.3(chr2:238249548-238646894)x3 copy number gain not provided [RCV000682069] Chr2:238249548..238646894 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238017965-238531976)x3 copy number gain not provided [RCV000682081] Chr2:238017965..238531976 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1 copy number loss not provided [RCV000682151] Chr2:237480048..241611309 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238245132-239052675)x3 copy number gain not provided [RCV000754757] Chr2:238245132..239052675 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238249629-238642460)x3 copy number gain not provided [RCV000848071] Chr2:238249629..238642460 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238012305-238526498)x3 copy number gain not provided [RCV000849101] Chr2:238012305..238526498 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238249629-238646952)x3 copy number gain not provided [RCV000845811] Chr2:238249629..238646952 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1 copy number loss not provided [RCV001007525] Chr2:236172348..241611309 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 copy number loss not provided [RCV002472625] Chr2:235942616..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1 copy number loss not provided [RCV001007520] Chr2:234090049..239494702 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238131823-238750046)x3 copy number gain not provided [RCV001827819] Chr2:238131823..238750046 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 copy number loss not provided [RCV001827851] Chr2:237499041..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_236403331)_(242801596_?)del deletion Bethlem myopathy 1A [RCV003113452] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 copy number loss not provided [RCV002473939] Chr2:236878509..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015893.1(PRLH):c.196C>G (p.Pro66Ala) single nucleotide variant not specified [RCV004091024] Chr2:237567107 [GRCh38]
Chr2:238475750 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015893.1(PRLH):c.115C>G (p.Pro39Ala) single nucleotide variant not specified [RCV004138050] Chr2:237567026 [GRCh38]
Chr2:238475669 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015893.1(PRLH):c.79C>T (p.Arg27Trp) single nucleotide variant not specified [RCV004194189] Chr2:237566652 [GRCh38]
Chr2:238475295 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015893.1(PRLH):c.152G>C (p.Gly51Ala) single nucleotide variant not specified [RCV004214849] Chr2:237567063 [GRCh38]
Chr2:238475706 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015893.1(PRLH):c.184G>T (p.Asp62Tyr) single nucleotide variant not specified [RCV004215678] Chr2:237567095 [GRCh38]
Chr2:238475738 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015893.1(PRLH):c.200G>A (p.Gly67Asp) single nucleotide variant not specified [RCV004116219] Chr2:237567111 [GRCh38]
Chr2:238475754 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015893.1(PRLH):c.187G>A (p.Val63Ile) single nucleotide variant not specified [RCV004268065] Chr2:237567098 [GRCh38]
Chr2:238475741 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015893.1(PRLH):c.94A>T (p.Ile32Phe) single nucleotide variant not specified [RCV004363070] Chr2:237566667 [GRCh38]
Chr2:238475310 [GRCh37]
Chr2:2q37.3		 uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238178706-239202040)x3 copy number gain not provided [RCV003484097] Chr2:238178706..239202040 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1 copy number loss not provided [RCV003485294] Chr2:238460671..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 copy number loss not specified [RCV003986344] Chr2:236057846..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 copy number loss not specified [RCV003986335] Chr2:236726690..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015893.1(PRLH):c.151G>A (p.Gly51Ser) single nucleotide variant not specified [RCV004515264] Chr2:237567062 [GRCh38]
Chr2:238475705 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1 copy number loss See cases [RCV004442765] Chr2:235267074..242782258 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3 copy number gain See cases [RCV004442768] Chr2:237577774..239670026 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015893.1(PRLH):c.56G>T (p.Arg19Leu) single nucleotide variant not specified [RCV004515265] Chr2:237566629 [GRCh38]
Chr2:238475272 [GRCh37]
Chr2:2q37.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:267
Count of miRNA genes:231
Interacting mature miRNAs:234
Transcripts:ENST00000165524
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
UniSTS:481218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,475,217 - 238,475,818UniSTSGRCh37
Celera2232,189,067 - 232,189,668UniSTS
HuRef2230,265,422 - 230,266,023UniSTS


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 adipose tissue appendage
High
Medium 2 1 2 1 9 4
Low 22 129 46 7 8 4 13 17 104 1 117 95 4 1 5
Below cutoff 216 402 194 61 45 19 316 278 294 21 345 243 43 80 197

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000165524   ⟹   ENSP00000165524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,566,574 - 237,567,175 (+)Ensembl
RefSeq Acc Id: NM_015893   ⟹   NP_056977
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,566,574 - 237,567,175 (+)NCBI
GRCh372238,475,217 - 238,475,818 (+)RGD
Build 362238,139,956 - 238,140,557 (+)NCBI Archive
Celera2232,189,067 - 232,189,668 (+)RGD
HuRef2230,265,422 - 230,266,023 (+)RGD
CHM1_12238,480,284 - 238,480,885 (+)NCBI
T2T-CHM13v2.02238,056,486 - 238,057,087 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_056977 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH69081 (Get FASTA)   NCBI Sequence Viewer  
  AAH69284 (Get FASTA)   NCBI Sequence Viewer  
  AAY24046 (Get FASTA)   NCBI Sequence Viewer  
  BAA29027 (Get FASTA)   NCBI Sequence Viewer  
  EAW71117 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000165524
  ENSP00000165524.1
GenBank Protein P81277 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_056977   ⟸   NM_015893
- Peptide Label: precursor
- UniProtKB: P81277 (UniProtKB/Swiss-Prot),   Q53QV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000165524   ⟸   ENST00000165524

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P81277-F1-model_v2 AlphaFold P81277 1-87 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17945 AgrOrtholog
COSMIC PRLH COSMIC
Ensembl Genes ENSG00000071677 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000165524 ENTREZGENE
  ENST00000165524.1 UniProtKB/Swiss-Prot
GTEx ENSG00000071677 GTEx
HGNC ID HGNC:17945 ENTREZGENE
Human Proteome Map PRLH Human Proteome Map
InterPro PrRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51052 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51052 ENTREZGENE
OMIM 602663 OMIM
PANTHER PROLACTIN-RELEASING PEPTIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR17206 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Prolactin_RP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134927756 PharmGKB
UniProt P81277 ENTREZGENE, UniProtKB/Swiss-Prot
  Q53QV7 ENTREZGENE, UniProtKB/TrEMBL