TACR3 (tachykinin receptor 3) - Rat Genome Database

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Gene: TACR3 (tachykinin receptor 3) Homo sapiens
Analyze
Symbol: TACR3
Name: tachykinin receptor 3
RGD ID: 735782
HGNC Page HGNC:11528
Description: Predicted to enable tachykinin receptor activity. Involved in positive regulation of flagellated sperm motility. Located in sperm midpiece. Implicated in hypogonadotropic hypogonadism 11 with or without anosmia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HH11; MGC148060; MGC148061; neurokinin B receptor; neurokinin beta receptor; neuromedin-K receptor; NK-3 receptor; NK-3R; NK3; NK3 receptor; NK3R; NKR; TAC3R; TAC3RL; tachikin receptor 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384103,586,031 - 103,719,985 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4103,586,031 - 103,719,985 (-)EnsemblGRCh38hg38GRCh38
GRCh374104,507,188 - 104,641,142 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,730,074 - 104,860,422 (-)NCBINCBI36Build 36hg18NCBI36
Build 344104,868,228 - 104,998,577NCBI
Celera4101,809,125 - 101,939,478 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef4100,245,509 - 100,375,866 (-)NCBIHuRef
CHM1_14104,487,252 - 104,617,580 (-)NCBICHM1_1
T2T-CHM13v2.04106,897,954 - 107,031,922 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
dendrite membrane  (IEA,ISO)
neuronal cell body membrane  (IEA,ISO)
plasma membrane  (IBA,IEA,TAS)
sperm midpiece  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Amenorrhea  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bimanual synkinesia  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Cleft palate  (IAGP)
Color vision defect  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Erectile dysfunction  (IAGP)
Eunuchoid habitus  (IAGP)
Female hypogonadism  (IAGP)
Gait disturbance  (IAGP)
Generalized joint hypermobility  (IAGP)
Gynecomastia  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hyposmia  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Impotence  (IAGP)
Increased female libido  (IAGP)
Male hypogonadism  (IAGP)
Micropenis  (IAGP)
Microphallus  (IAGP)
Muscle weakness  (IAGP)
Non-obstructive azoospermia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Paraplegia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Phenotypic abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal dysplasia  (IAGP)
Sparse body hair  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Evidence for mediation of nociception by injection of the NK-3 receptor agonist, senktide, into the dorsal periaqueductal gray of rats. Bassi GS, etal., Psychopharmacology (Berl). 2008 Dec 18.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Blockade of NK3R signaling in the PVN decreases vasopressin and oxytocin release and c-Fos expression in the magnocellular neurons in response to hypotension. Haley GE and Flynn FW, Am J Physiol Regul Integr Comp Physiol. 2008 Oct;295(4):R1158-67. Epub 2008 Jul 23.
4. Time-dependent changes in neurokinin(3) receptors and tachykinins during adjuvant-induced peripheral inflammation in the rat. Linden DR, etal., Neuroscience. 2000;98(4):801-11.
5. Cardiovascular roles of tachykinin peptides in the nucleus tractus solitarii of rats. Nagashima A, etal., Brain Res. 1989 May 22;487(2):392-6.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Kainic acid induced seizures cause a marked increase in the expression of neurokinin-3 receptor mRNA in the rat cerebellum. Roder C, etal., Neurosci Lett. 1994 Nov 7;181(1-2):158-60.
Additional References at PubMed
PMID:1312036   PMID:1312928   PMID:1315051   PMID:1374246   PMID:2452993   PMID:8702757   PMID:8925404   PMID:8990205   PMID:9272936   PMID:10189055   PMID:10866201   PMID:11786503  
PMID:12477932   PMID:12716968   PMID:15130944   PMID:15452121   PMID:15489334   PMID:16709596   PMID:16754659   PMID:17437961   PMID:17448763   PMID:17703412   PMID:18203813   PMID:18287949  
PMID:18422838   PMID:18577758   PMID:18835556   PMID:19079066   PMID:19258923   PMID:19755480   PMID:20194706   PMID:20301509   PMID:20332099   PMID:20332248   PMID:20395662   PMID:20503287  
PMID:21873635   PMID:22031817   PMID:22424618   PMID:22766261   PMID:23019350   PMID:23329188   PMID:23597562   PMID:23656837   PMID:23983264   PMID:24376026   PMID:24434351   PMID:24802197  
PMID:25153567   PMID:25231870   PMID:25452470   PMID:26993630   PMID:27271543   PMID:27580802   PMID:27919954   PMID:28231077   PMID:29061792   PMID:30390321   PMID:32067964   PMID:33961781  
PMID:36453600  


Genomics

Comparative Map Data
TACR3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384103,586,031 - 103,719,985 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4103,586,031 - 103,719,985 (-)EnsemblGRCh38hg38GRCh38
GRCh374104,507,188 - 104,641,142 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,730,074 - 104,860,422 (-)NCBINCBI36Build 36hg18NCBI36
Build 344104,868,228 - 104,998,577NCBI
Celera4101,809,125 - 101,939,478 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef4100,245,509 - 100,375,866 (-)NCBIHuRef
CHM1_14104,487,252 - 104,617,580 (-)NCBICHM1_1
T2T-CHM13v2.04106,897,954 - 107,031,922 (-)NCBIT2T-CHM13v2.0
Tacr3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393134,534,768 - 134,640,342 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3134,534,768 - 134,640,340 (+)EnsemblGRCm39 Ensembl
GRCm383134,829,007 - 134,934,581 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3134,829,007 - 134,934,579 (+)EnsemblGRCm38mm10GRCm38
MGSCv373134,491,971 - 134,597,545 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363134,766,394 - 134,871,959 (+)NCBIMGSCv36mm8
Celera3141,238,671 - 141,345,575 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map362.47NCBI
Tacr3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82225,940,497 - 226,037,756 (+)NCBIGRCr8
mRatBN7.22223,266,536 - 223,363,791 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2223,266,536 - 223,363,791 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2230,969,011 - 231,055,530 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02228,868,726 - 228,955,238 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02223,733,543 - 223,820,045 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02240,021,152 - 240,118,971 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2240,021,152 - 240,118,971 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02258,547,661 - 258,644,112 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42232,309,015 - 232,404,964 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12232,295,754 - 232,391,704 (+)NCBI
Celera2215,485,216 - 215,569,645 (+)NCBICelera
Cytogenetic Map2q43NCBI
Tacr3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554965,151,668 - 5,222,624 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554965,152,134 - 5,222,565 (+)NCBIChiLan1.0ChiLan1.0
TACR3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23101,649,480 - 101,782,419 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14101,936,181 - 102,074,800 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0496,022,788 - 96,162,249 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14106,644,943 - 106,776,172 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4106,644,943 - 106,776,172 (-)Ensemblpanpan1.1panPan2
TACR3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13224,812,344 - 24,888,452 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3224,812,119 - 24,907,580 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3217,136,602 - 17,213,041 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03225,029,113 - 25,105,792 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3225,028,888 - 25,106,462 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13225,048,235 - 25,126,781 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03224,791,973 - 24,868,622 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03214,994,194 - 15,070,872 (+)NCBIUU_Cfam_GSD_1.0
TACR3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8117,662,122 - 117,721,613 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18117,662,122 - 117,718,317 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28126,511,759 - 126,570,636 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TACR3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1751,662,248 - 51,764,058 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl751,665,147 - 51,762,390 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603730,211,968 - 30,313,605 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tacr3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248304,635,987 - 4,704,251 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TACR3
122 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001059.3(TACR3):c.278G>A (p.Gly93Asp) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000030897]|not provided [RCV000059784] Chr4:103719398 [GRCh38]
Chr4:104640555 [GRCh37]
Chr4:4q24		 pathogenic|not provided
NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000030898]|not provided [RCV000059783] Chr4:103591515 [GRCh38]
Chr4:104512672 [GRCh37]
Chr4:4q24		 pathogenic|not provided
NM_001059.3(TACR3):c.1086-214C>G single nucleotide variant not provided [RCV001571845] Chr4:103590208 [GRCh38]
Chr4:104511365 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.2(TACR3):c.889-9260A>G single nucleotide variant Lung cancer [RCV000093908] Chr4:103600943 [GRCh38]
Chr4:104522100 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.766T>C (p.Tyr256His) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000056320] Chr4:103656316 [GRCh38]
Chr4:104577473 [GRCh37]
Chr4:4q24		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
NM_001059.2(TACR3):c.1140C>T (p.Ser380=) single nucleotide variant Malignant melanoma [RCV000066230] Chr4:103589940 [GRCh38]
Chr4:104511097 [GRCh37]
Chr4:104730546 [NCBI36]
Chr4:4q24		 not provided
NM_001059.2(TACR3):c.876G>A (p.Lys292=) single nucleotide variant Malignant melanoma [RCV000066232] Chr4:103656206 [GRCh38]
Chr4:104577363 [GRCh37]
Chr4:104796812 [NCBI36]
Chr4:4q24		 not provided
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000056319]|not provided [RCV000727615] Chr4:103656258 [GRCh38]
Chr4:104577415 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_001059.2(TACR3):c.1359C>T (p.Phe453=) single nucleotide variant Malignant melanoma [RCV000074312] Chr4:103589721 [GRCh38]
Chr4:104510878 [GRCh37]
Chr4:104730327 [NCBI36]
Chr4:4q24		 not provided
NM_001059.2(TACR3):c.877G>A (p.Ala293Thr) single nucleotide variant Malignant melanoma [RCV000074313] Chr4:103656205 [GRCh38]
Chr4:104577362 [GRCh37]
Chr4:104796811 [NCBI36]
Chr4:4q24		 not provided
GRCh38/hg38 4q24(chr4:103434829-103926294)x1 copy number loss See cases [RCV000140413] Chr4:103434829..103926294 [GRCh38]
Chr4:104355986..104847451 [GRCh37]
Chr4:104575435..105066900 [NCBI36]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.511G>C (p.Ala171Pro) single nucleotide variant Delayed puberty [RCV000156946] Chr4:103719165 [GRCh38]
Chr4:104640322 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.623G>A (p.Trp208Ter) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000156966] Chr4:103658329 [GRCh38]
Chr4:104579486 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.692C>T (p.Thr231Ile) single nucleotide variant Autism spectrum disorder [RCV003313942]|Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000200961] Chr4:103658260 [GRCh38]
Chr4:104579417 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.-20G>C single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000272666] Chr4:103719695 [GRCh38]
Chr4:104640852 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.579C>T (p.Pro193=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000266851]|TACR3-related condition [RCV003902339]|not provided [RCV000890964] Chr4:103658373 [GRCh38]
Chr4:104579530 [GRCh37]
Chr4:4q24		 benign|likely benign|uncertain significance
NM_001059.3(TACR3):c.-103T>C single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000268772]|not provided [RCV000832599] Chr4:103719778 [GRCh38]
Chr4:104640935 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.-111C>A single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000333203] Chr4:103719786 [GRCh38]
Chr4:104640943 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.-10A>T single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000357974] Chr4:103719685 [GRCh38]
Chr4:104640842 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.-20G>A single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000327313]|not specified [RCV000418927] Chr4:103719695 [GRCh38]
Chr4:104640852 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_001059.3(TACR3):c.*73C>T single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000345508]|not provided [RCV001618617] Chr4:103589609 [GRCh38]
Chr4:104510766 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001059.3(TACR3):c.1290G>A (p.Thr430=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000296320]|not provided [RCV000916690] Chr4:103589790 [GRCh38]
Chr4:104510947 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_001059.3(TACR3):c.737C>T (p.Thr246Ile) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000297383] Chr4:103658215 [GRCh38]
Chr4:104579372 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000351253]|TACR3-related condition [RCV003957798]|not provided [RCV000891874]|not specified [RCV001821051] Chr4:103589834 [GRCh38]
Chr4:104510991 [GRCh37]
Chr4:4q24		 benign|likely benign|uncertain significance
NM_001059.3(TACR3):c.114G>T (p.Glu38Asp) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000303219] Chr4:103719562 [GRCh38]
Chr4:104640719 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.-86C>A single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000381971] Chr4:103719761 [GRCh38]
Chr4:104640918 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.*202G>C single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000384433] Chr4:103589480 [GRCh38]
Chr4:104510637 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1230A>T (p.Thr410=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000403622] Chr4:103589850 [GRCh38]
Chr4:104511007 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1311T>C (p.Asn437=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000390714] Chr4:103589769 [GRCh38]
Chr4:104510926 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.917T>C (p.Met306Thr) single nucleotide variant Isolated GnRH Deficiency [RCV000355689] Chr4:103591655 [GRCh38]
Chr4:104512812 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1188G>A (p.Arg396=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000311562] Chr4:103589892 [GRCh38]
Chr4:104511049 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.*176_*177del deletion Isolated GnRH Deficiency [RCV000290573] Chr4:103589505..103589506 [GRCh38]
Chr4:104510662..104510663 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.703G>A (p.Val235Met) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000361520] Chr4:103658249 [GRCh38]
Chr4:104579406 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.548+2T>C single nucleotide variant not provided [RCV000414350] Chr4:103719126 [GRCh38]
Chr4:104640283 [GRCh37]
Chr4:4q24		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001149821]|TACR3-related condition [RCV003922729]|not provided [RCV000954909] Chr4:103589735 [GRCh38]
Chr4:104510892 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001059.3(TACR3):c.534C>T (p.Ala178=) single nucleotide variant not specified [RCV000418777] Chr4:103719142 [GRCh38]
Chr4:104640299 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.775C>T (p.Pro259Ser) single nucleotide variant not provided [RCV000429514] Chr4:103656307 [GRCh38]
Chr4:104577464 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.918G>A (p.Met306Ile) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001145490]|TACR3-related condition [RCV003962335]|not provided [RCV000485622] Chr4:103591654 [GRCh38]
Chr4:104512811 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.892G>A (p.Val298Ile) single nucleotide variant not specified [RCV000500874] Chr4:103591680 [GRCh38]
Chr4:104512837 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1159C>T (p.Leu387Phe) single nucleotide variant not specified [RCV000503942] Chr4:103589921 [GRCh38]
Chr4:104511078 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1345G>T (p.Ala449Ser) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001148270]|not provided [RCV001815398]|not specified [RCV000502499] Chr4:103589735 [GRCh38]
Chr4:104510892 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001145492]|not provided [RCV000514260]|not specified [RCV000612388] Chr4:103656225 [GRCh38]
Chr4:104577382 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001059.3(TACR3):c.1016T>C (p.Leu339Pro) single nucleotide variant Inborn genetic diseases [RCV003282519] Chr4:103591556 [GRCh38]
Chr4:104512713 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1289C>T (p.Thr430Met) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000764521]|not provided [RCV000522226] Chr4:103589791 [GRCh38]
Chr4:104510948 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.404C>T (p.Ala135Val) single nucleotide variant Inborn genetic diseases [RCV003282155] Chr4:103719272 [GRCh38]
Chr4:104640429 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.294G>C (p.Val98=) single nucleotide variant not provided [RCV000880327]|not specified [RCV000608465] Chr4:103719382 [GRCh38]
Chr4:104640539 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001059.3(TACR3):c.1344C>T (p.Ser448=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001149822]|not provided [RCV000961136]|not specified [RCV000611262] Chr4:103589736 [GRCh38]
Chr4:104510893 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001059.3(TACR3):c.873A>G (p.Leu291=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001145491]|not provided [RCV000884528]|not specified [RCV000605221] Chr4:103656209 [GRCh38]
Chr4:104577366 [GRCh37]
Chr4:4q24		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q24(chr4:103846070-104693179)x3 copy number gain not provided [RCV000682438] Chr4:103846070..104693179 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:104424933-105435071)x1 copy number loss not provided [RCV000682439] Chr4:104424933..105435071 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:104577887-104641864)x1 copy number loss not provided [RCV000682440] Chr4:104577887..104641864 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001149823]|not provided [RCV000713763] Chr4:103589759 [GRCh38]
Chr4:104510916 [GRCh37]
Chr4:4q24		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4q24(chr4:104127786-104638193)x3 copy number gain not provided [RCV000743883] Chr4:104127786..104638193 [GRCh37]
Chr4:4q24		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001059.3(TACR3):c.888+174A>G single nucleotide variant not provided [RCV001577462] Chr4:103656020 [GRCh38]
Chr4:104577177 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.888+77T>C single nucleotide variant not provided [RCV001577752] Chr4:103656117 [GRCh38]
Chr4:104577274 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.*270T>C single nucleotide variant not provided [RCV001570794] Chr4:103589412 [GRCh38]
Chr4:104510569 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.780G>A (p.Leu260=) single nucleotide variant not provided [RCV000904403] Chr4:103656302 [GRCh38]
Chr4:104577459 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.138C>T (p.Asp46=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001147441]|not provided [RCV000901230] Chr4:103719538 [GRCh38]
Chr4:104640695 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_001059.3(TACR3):c.548+2T>A single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV000778714] Chr4:103719126 [GRCh38]
Chr4:104640283 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.606T>A (p.Ile202=) single nucleotide variant not provided [RCV000925606] Chr4:103658346 [GRCh38]
Chr4:104579503 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.-271C>G single nucleotide variant not provided [RCV000832246] Chr4:103719946 [GRCh38]
Chr4:104641103 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.737+253_737+254insAT insertion not provided [RCV000832247] Chr4:103657961..103657962 [GRCh38]
Chr4:104579118..104579119 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.737+264_737+265insATGTGCACATTCC insertion not provided [RCV000832248] Chr4:103657950..103657951 [GRCh38]
Chr4:104579107..104579108 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.1225A>G (p.Met409Val) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001149824]|not provided [RCV001565335] Chr4:103589855 [GRCh38]
Chr4:104511012 [GRCh37]
Chr4:4q24		 likely benign|uncertain significance
NM_001059.3(TACR3):c.*94T>G single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001148268] Chr4:103589588 [GRCh38]
Chr4:104510745 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.-232C>G single nucleotide variant not provided [RCV000837306] Chr4:103719907 [GRCh38]
Chr4:104641064 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.*125A>G single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001148267] Chr4:103589557 [GRCh38]
Chr4:104510714 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:104330793-104518529)x3 copy number gain not provided [RCV000845964] Chr4:104330793..104518529 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.737+1G>A single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001009620]|not provided [RCV003558641] Chr4:103658214 [GRCh38]
Chr4:104579371 [GRCh37]
Chr4:4q24		 pathogenic|likely pathogenic
NM_001059.3(TACR3):c.*143G>A single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001148265] Chr4:103589539 [GRCh38]
Chr4:104510696 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:104279945-104727633)x3 copy number gain not provided [RCV001005583] Chr4:104279945..104727633 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.548+243G>C single nucleotide variant not provided [RCV001571539] Chr4:103718885 [GRCh38]
Chr4:104640042 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.548+288G>A single nucleotide variant not provided [RCV001715533] Chr4:103718840 [GRCh38]
Chr4:104639997 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.548+52T>C single nucleotide variant not provided [RCV001568968] Chr4:103719076 [GRCh38]
Chr4:104640233 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.549-114C>A single nucleotide variant not provided [RCV001718153] Chr4:103658517 [GRCh38]
Chr4:104579674 [GRCh37]
Chr4:4q24		 benign
NC_000004.11:g.(?_101947022)_(106061534_?)del deletion not provided [RCV003107794] Chr4:101947022..106061534 [GRCh37]
Chr4:4q24		 pathogenic
NM_001059.3(TACR3):c.549-150G>A single nucleotide variant not provided [RCV001724877] Chr4:103658553 [GRCh38]
Chr4:104579710 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.1167C>T (p.Thr389=) single nucleotide variant TACR3-related condition [RCV003922879]|not provided [RCV000896419] Chr4:103589913 [GRCh38]
Chr4:104511070 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.921A>C (p.Thr307=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001145489]|not provided [RCV000881196]|not specified [RCV001664525] Chr4:103591651 [GRCh38]
Chr4:104512808 [GRCh37]
Chr4:4q24		 benign|likely benign
NM_001059.3(TACR3):c.687C>A (p.Gly229=) single nucleotide variant not provided [RCV000910363] Chr4:103658265 [GRCh38]
Chr4:104579422 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.1085+16C>T single nucleotide variant not provided [RCV001718523] Chr4:103591471 [GRCh38]
Chr4:104512628 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.549-267C>T single nucleotide variant not provided [RCV001564423] Chr4:103658670 [GRCh38]
Chr4:104579827 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.447_448del (p.Ser149fs) deletion not provided [RCV001009027] Chr4:103719228..103719229 [GRCh38]
Chr4:104640385..104640386 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.737+257A>C single nucleotide variant not provided [RCV001572277] Chr4:103657958 [GRCh38]
Chr4:104579115 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.1085+193A>G single nucleotide variant not provided [RCV001596279] Chr4:103591294 [GRCh38]
Chr4:104512451 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.1206C>T (p.Thr402=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001145488] Chr4:103589874 [GRCh38]
Chr4:104511031 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:103865132-105720367)x1 copy number loss not provided [RCV001005582] Chr4:103865132..105720367 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1086-206C>T single nucleotide variant not provided [RCV001590184] Chr4:103590200 [GRCh38]
Chr4:104511357 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.688C>T (p.Arg230Cys) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001147439] Chr4:103658264 [GRCh38]
Chr4:104579421 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.150C>T (p.Asn50=) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001147440] Chr4:103719526 [GRCh38]
Chr4:104640683 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.*138G>A single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001148266] Chr4:103589544 [GRCh38]
Chr4:104510701 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.*87T>C single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001148269] Chr4:103589595 [GRCh38]
Chr4:104510752 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.-93A>G single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV001148370] Chr4:103719768 [GRCh38]
Chr4:104640925 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1085+156C>A single nucleotide variant not provided [RCV001663109] Chr4:103591331 [GRCh38]
Chr4:104512488 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.1086-213_1086-212insG insertion not provided [RCV001539375] Chr4:103590206..103590207 [GRCh38]
Chr4:104511363..104511364 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.1234G>A (p.Val412Met) single nucleotide variant Hypogonadotropic hypogonadism 11 with or without anosmia [RCV002496052]|not provided [RCV001727297] Chr4:103589846 [GRCh38]
Chr4:104511003 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q24(chr4:102851823-104641864) copy number loss Immunodeficiency, common variable, 12 [RCV002280616] Chr4:102851823..104641864 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.514A>G (p.Ser172Gly) single nucleotide variant Inborn genetic diseases [RCV003375355]|not provided [RCV001772680] Chr4:103719162 [GRCh38]
Chr4:104640319 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.445A>G (p.Ser149Gly) single nucleotide variant not provided [RCV001764928] Chr4:103719231 [GRCh38]
Chr4:104640388 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.416C>T (p.Thr139Met) single nucleotide variant not provided [RCV001767502] Chr4:103719260 [GRCh38]
Chr4:104640417 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.892G>T (p.Val298Phe) single nucleotide variant not provided [RCV001769220] Chr4:103591680 [GRCh38]
Chr4:104512837 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.250C>A (p.Arg84Ser) single nucleotide variant not provided [RCV001806279] Chr4:103719426 [GRCh38]
Chr4:104640583 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.743A>G (p.His248Arg) single nucleotide variant Amenorrhea [RCV001849745] Chr4:103656339 [GRCh38]
Chr4:104577496 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NC_000004.11:g.(?_101947022)_(104640832_?)del deletion Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] Chr4:101947022..104640832 [GRCh37]
Chr4:4q24		 pathogenic|no classifications from unflagged records
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
NM_001059.3(TACR3):c.1118G>T (p.Trp373Leu) single nucleotide variant not provided [RCV002016325] Chr4:103589962 [GRCh38]
Chr4:104511119 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.745A>G (p.Ile249Val) single nucleotide variant not provided [RCV001898594] Chr4:103656337 [GRCh38]
Chr4:104577494 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.303G>A (p.Leu101=) single nucleotide variant not provided [RCV002168543] Chr4:103719373 [GRCh38]
Chr4:104640530 [GRCh37]
Chr4:4q24		 benign
NM_001059.3(TACR3):c.1085+13C>A single nucleotide variant not provided [RCV002150304] Chr4:103591474 [GRCh38]
Chr4:104512631 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.181C>A (p.Pro61Thr) single nucleotide variant not specified [RCV003151668] Chr4:103719495 [GRCh38]
Chr4:104640652 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.370del (p.Leu124_Val125insTer) deletion Hypogonadotropic hypogonadism [RCV002254896] Chr4:103719306 [GRCh38]
Chr4:104640463 [GRCh37]
Chr4:4q24		 pathogenic
NM_001059.3(TACR3):c.611T>C (p.Ile204Thr) single nucleotide variant Inborn genetic diseases [RCV002864149] Chr4:103658341 [GRCh38]
Chr4:104579498 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1393T>C (p.Ser465Pro) single nucleotide variant Inborn genetic diseases [RCV002978497] Chr4:103589687 [GRCh38]
Chr4:104510844 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.954C>T (p.Tyr318=) single nucleotide variant not provided [RCV002913279] Chr4:103591618 [GRCh38]
Chr4:104512775 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.730C>T (p.His244Tyr) single nucleotide variant Inborn genetic diseases [RCV002693453] Chr4:103658222 [GRCh38]
Chr4:104579379 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1062C>T (p.Ile354=) single nucleotide variant not provided [RCV002847114] Chr4:103591510 [GRCh38]
Chr4:104512667 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.930C>G (p.Ile310Met) single nucleotide variant Inborn genetic diseases [RCV002955451] Chr4:103591642 [GRCh38]
Chr4:104512799 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1373A>G (p.Tyr458Cys) single nucleotide variant not provided [RCV003045024] Chr4:103589707 [GRCh38]
Chr4:104510864 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.1164G>A (p.Lys388=) single nucleotide variant not provided [RCV003010081] Chr4:103589916 [GRCh38]
Chr4:104511073 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.297A>T (p.Ala99=) single nucleotide variant not provided [RCV002746073] Chr4:103719379 [GRCh38]
Chr4:104640536 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.964A>G (p.Thr322Ala) single nucleotide variant not provided [RCV002715405] Chr4:103591608 [GRCh38]
Chr4:104512765 [GRCh37]
Chr4:4q24		 uncertain significance
NC_000004.11:g.(?_101947022)_(107268849_?)dup duplication not provided [RCV003154901] Chr4:101947022..107268849 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.128A>T (p.Gln43Leu) single nucleotide variant Inborn genetic diseases [RCV003287071] Chr4:103719548 [GRCh38]
Chr4:104640705 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.235G>A (p.Val79Met) single nucleotide variant Inborn genetic diseases [RCV003352400] Chr4:103719441 [GRCh38]
Chr4:104640598 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.880A>G (p.Lys294Glu) single nucleotide variant TACR3-related condition [RCV003394417] Chr4:103656202 [GRCh38]
Chr4:104577359 [GRCh37]
Chr4:4q24		 uncertain significance
NM_001059.3(TACR3):c.737+1G>C single nucleotide variant TACR3-related condition [RCV003405852] Chr4:103658214 [GRCh38]
Chr4:104579371 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.12C>T (p.Leu4=) single nucleotide variant not provided [RCV003435119] Chr4:103719664 [GRCh38]
Chr4:104640821 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.311_312insTCCTGGATTGCAAGTATGAAATCTTCCTGGATTTGGGAAATCT (p.Leu104_Ile105insProGlyLeuGlnValTer) insertion TACR3-related condition [RCV003400336] Chr4:103719364..103719365 [GRCh38]
Chr4:104640521..104640522 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.1090C>T (p.Arg364Ter) single nucleotide variant not provided [RCV003828227] Chr4:103589990 [GRCh38]
Chr4:104511147 [GRCh37]
Chr4:4q24		 likely pathogenic
NM_001059.3(TACR3):c.738-14_738-12del deletion not provided [RCV003828352] Chr4:103656356..103656358 [GRCh38]
Chr4:104577513..104577515 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.276T>C (p.Tyr92=) single nucleotide variant TACR3-related condition [RCV003909027]|not provided [RCV003561737] Chr4:103719400 [GRCh38]
Chr4:104640557 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.432C>A (p.Ile144=) single nucleotide variant not provided [RCV003814926] Chr4:103719244 [GRCh38]
Chr4:104640401 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.156C>A (p.Ser52=) single nucleotide variant not provided [RCV003724540] Chr4:103719520 [GRCh38]
Chr4:104640677 [GRCh37]
Chr4:4q24		 likely benign
NM_001059.3(TACR3):c.548+17_548+20del microsatellite not provided [RCV003819792] Chr4:103719108..103719111 [GRCh38]
Chr4:104640265..104640268 [GRCh37]
Chr4:4q24		 likely benign
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1 copy number loss not specified [RCV003986501] Chr4:100172302..107880077 [GRCh37]
Chr4:4q23-25		 pathogenic
GRCh37/hg19 4q24(chr4:104611103-104641864)x1 copy number loss not specified [RCV003986535] Chr4:104611103..104641864 [GRCh37]
Chr4:4q24		 uncertain significance
GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1 copy number loss not specified [RCV003986486] Chr4:99355670..107274288 [GRCh37]
Chr4:4q23-24		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1045
Count of miRNA genes:670
Interacting mature miRNAs:747
Transcripts:ENST00000304883
Prediction methods:Miranda
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
AFMa070th5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,637,339 - 104,637,513UniSTSGRCh37
Build 364104,856,788 - 104,856,962RGDNCBI36
Celera4101,935,844 - 101,936,018RGD
Cytogenetic Map4q25UniSTS
HuRef4100,372,232 - 100,372,406UniSTS
Whitehead-RH Map4537.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
RH70865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,640,354 - 104,640,531UniSTSGRCh37
Build 364104,859,803 - 104,859,980RGDNCBI36
Celera4101,938,859 - 101,939,036RGD
Cytogenetic Map4q25UniSTS
HuRef4100,375,247 - 100,375,424UniSTS
GeneMap99-GB4 RH Map4497.63UniSTS
SHGC-23760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,534,395 - 104,534,493UniSTSGRCh37
Build 364104,753,844 - 104,753,942RGDNCBI36
Celera4101,832,902 - 101,833,000RGD
Cytogenetic Map4q25UniSTS
HuRef4100,269,284 - 100,269,382UniSTS
TNG Radiation Hybrid Map463847.0UniSTS
SHGC-23748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,583,915 - 104,584,023UniSTSGRCh37
Build 364104,803,364 - 104,803,472RGDNCBI36
Celera4101,882,423 - 101,882,531RGD
Cytogenetic Map4q25UniSTS
HuRef4100,318,810 - 100,318,918UniSTS
TNG Radiation Hybrid Map463758.0UniSTS
SHGC-23745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,624,847 - 104,624,951UniSTSGRCh37
Build 364104,844,296 - 104,844,400RGDNCBI36
Celera4101,923,353 - 101,923,457RGD
Cytogenetic Map4q25UniSTS
HuRef4100,359,741 - 100,359,845UniSTS
TNG Radiation Hybrid Map463754.0UniSTS
WI-18877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,510,646 - 104,510,795UniSTSGRCh37
Build 364104,730,095 - 104,730,244RGDNCBI36
Celera4101,809,146 - 101,809,295RGD
Cytogenetic Map4q25UniSTS
HuRef4100,245,530 - 100,245,679UniSTS
GeneMap99-GB4 RH Map4495.85UniSTS
Whitehead-RH Map4535.5UniSTS
WI-9174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,510,701 - 104,510,813UniSTSGRCh37
Build 364104,730,150 - 104,730,262RGDNCBI36
Celera4101,809,201 - 101,809,313RGD
Cytogenetic Map4q25UniSTS
HuRef4100,245,585 - 100,245,697UniSTS
Whitehead-YAC Contig Map4 UniSTS
G34495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,637,326 - 104,637,521UniSTSGRCh37
Build 364104,856,775 - 104,856,970RGDNCBI36
Celera4101,935,831 - 101,936,026RGD
Cytogenetic Map4q25UniSTS
HuRef4100,372,219 - 100,372,414UniSTS
D4S2650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,585,281 - 104,585,480UniSTSGRCh37
Build 364104,804,730 - 104,804,929RGDNCBI36
Celera4101,883,789 - 101,883,988RGD
Cytogenetic Map4q25UniSTS
HuRef4100,320,176 - 100,320,375UniSTS
Whitehead-RH Map4535.5UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-50614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,585,348 - 104,585,470UniSTSGRCh37
Build 364104,804,797 - 104,804,919RGDNCBI36
Celera4101,883,856 - 101,883,978RGD
Cytogenetic Map4q25UniSTS
HuRef4100,320,243 - 100,320,365UniSTS
TNG Radiation Hybrid Map463766.0UniSTS
SHGC-23736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,533,996 - 104,534,182UniSTSGRCh37
Build 364104,753,445 - 104,753,631RGDNCBI36
Celera4101,832,503 - 101,832,689RGD
Cytogenetic Map4q25UniSTS
HuRef4100,268,885 - 100,269,071UniSTS
TNG Radiation Hybrid Map463823.0UniSTS
SHGC-23722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,536,397 - 104,536,544UniSTSGRCh37
Build 364104,755,846 - 104,755,993RGDNCBI36
Celera4101,834,904 - 101,835,051RGD
Cytogenetic Map4q25UniSTS
HuRef4100,271,289 - 100,271,436UniSTS
TNG Radiation Hybrid Map463823.0UniSTS


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 7 2 7 3 1 1
Low 5 2 19 2 6 2 185 13 540 50 35 54 4 1 8 1
Below cutoff 1018 392 773 89 238 66 1730 1061 2409 148 607 910 26 188 1311 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000304883   ⟹   ENSP00000303325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4103,586,031 - 103,719,985 (-)Ensembl
RefSeq Acc Id: NM_001059   ⟹   NP_001050
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,586,031 - 103,719,985 (-)NCBI
GRCh374104,510,625 - 104,640,973 (-)ENTREZGENE
Build 364104,730,074 - 104,860,422 (-)NCBI Archive
HuRef4100,245,509 - 100,375,866 (-)ENTREZGENE
CHM1_14104,487,252 - 104,617,580 (-)NCBI
T2T-CHM13v2.04106,897,954 - 107,031,922 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001050   ⟸   NM_001059
- UniProtKB: Q0P510 (UniProtKB/Swiss-Prot),   P29371 (UniProtKB/Swiss-Prot),   A0A1B0RPQ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000303325   ⟸   ENST00000304883
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29371-F1-model_v2 AlphaFold P29371 1-465 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11528 AgrOrtholog
COSMIC TACR3 COSMIC
Ensembl Genes ENSG00000169836 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304883 ENTREZGENE
  ENST00000304883.3 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169836 GTEx
HGNC ID HGNC:11528 ENTREZGENE
Human Proteome Map TACR3 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurokn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NK3_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6870 UniProtKB/Swiss-Prot
NCBI Gene 6870 ENTREZGENE
OMIM 162332 OMIM
PANTHER G-PROTEIN COUPLED RECEPTOR TKR-1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUROMEDIN-K RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36304 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUROKININ3R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUROKININR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0RPQ1 ENTREZGENE, UniProtKB/TrEMBL
  NK3R_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0IIN4_HUMAN UniProtKB/TrEMBL
  Q0P510 ENTREZGENE
  Q4VBL9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q0P510 UniProtKB/Swiss-Prot