HRNR (hornerin) - Rat Genome Database

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Gene: HRNR (hornerin) Homo sapiens
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Symbol: HRNR
Name: hornerin
RGD ID: 1603472
HGNC Page HGNC:20846
Description: Predicted to enable calcium ion binding activity and transition metal ion binding activity. Involved in cell envelope organization and establishment of skin barrier. Located in cornified envelope; keratohyalin granule; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: filaggrin family member 3; FLG3; intermediate filament-associated protein; S100A16; S100a18
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
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
GRCh381152,212,076 - 152,224,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1152,212,076 - 152,224,193 (-)EnsemblGRCh38hg38GRCh38
GRCh371152,184,552 - 152,196,669 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361150,451,182 - 150,463,293 (-)NCBINCBI36Build 36hg18NCBI36
Celera1125,299,240 - 125,308,530 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1123,561,504 - 123,570,799 (-)NCBIHuRef
CHM1_11153,579,878 - 153,592,041 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:15507446   PMID:16710414   PMID:17353931   PMID:17643375   PMID:19020553   PMID:19601998   PMID:21080425   PMID:21145461   PMID:21282207   PMID:21319273   PMID:21362503   PMID:21565611  
PMID:21630459   PMID:21873635   PMID:22268729   PMID:22727333   PMID:23314748   PMID:23376485   PMID:23403047   PMID:23443559   PMID:23455922   PMID:23557745   PMID:23686814   PMID:23751202  
PMID:24147044   PMID:24711643   PMID:24755837   PMID:24981860   PMID:24999758   PMID:25324306   PMID:25609649   PMID:25631074   PMID:25796446   PMID:25798074   PMID:25963833   PMID:26496610  
PMID:26499835   PMID:26544073   PMID:26618866   PMID:26725010   PMID:27545878   PMID:27591049   PMID:27678121   PMID:27742573   PMID:28007894   PMID:28065597   PMID:28330616   PMID:28344315  
PMID:28443643   PMID:28619731   PMID:28916756   PMID:28977666   PMID:29128334   PMID:29178343   PMID:29507755   PMID:29563501   PMID:29676528   PMID:29777862   PMID:29844126   PMID:29845934  
PMID:29859926   PMID:29969578   PMID:30103712   PMID:30256937   PMID:30737378   PMID:30979931   PMID:31273033   PMID:31406141   PMID:31586073   PMID:31669268   PMID:31901637   PMID:31985874  
PMID:31992359   PMID:32041737   PMID:32120844   PMID:32235678   PMID:32529326   PMID:32698014   PMID:32814769   PMID:32908313   PMID:32929329   PMID:32989256   PMID:33282727   PMID:33644029  
PMID:33729478   PMID:33731348   PMID:33961781   PMID:34431227   PMID:34445801   PMID:34825085   PMID:35012549   PMID:35013218   PMID:35013556   PMID:35044719   PMID:35140242   PMID:35173535  
PMID:35256949   PMID:35474131   PMID:35505093   PMID:35546148   PMID:35652658   PMID:35676659   PMID:35687106   PMID:35831895   PMID:35844135   PMID:35864588   PMID:35906200   PMID:35944360  
PMID:36057605   PMID:36095012   PMID:36168627   PMID:36199071   PMID:36215168   PMID:36217030   PMID:36243803   PMID:36252997   PMID:36263704   PMID:36300783   PMID:36339263   PMID:36526897  
PMID:36636478   PMID:36779763   PMID:37052853   PMID:37059927   PMID:37132043   PMID:37185839   PMID:37223481   PMID:37249651   PMID:37314216   PMID:37448957   PMID:38113892   PMID:38123340  
PMID:38172120   PMID:38297188   PMID:38496616   PMID:38697112  


Genomics

Comparative Map Data
HRNR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381152,212,076 - 152,224,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1152,212,076 - 152,224,193 (-)EnsemblGRCh38hg38GRCh38
GRCh371152,184,552 - 152,196,669 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361150,451,182 - 150,463,293 (-)NCBINCBI36Build 36hg18NCBI36
Celera1125,299,240 - 125,308,530 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1123,561,504 - 123,570,799 (-)NCBIHuRef
CHM1_11153,579,878 - 153,592,041 (-)NCBICHM1_1
Hrnr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39393,227,056 - 93,240,879 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl393,227,056 - 93,240,877 (+)EnsemblGRCm39 Ensembl
GRCm38393,319,749 - 93,333,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl393,319,749 - 93,333,570 (+)EnsemblGRCm38mm10GRCm38
MGSCv37393,123,671 - 93,137,494 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36393,405,958 - 93,418,975 (+)NCBIMGSCv36mm8
Celera393,772,386 - 93,778,017 (-)NCBICelera
Celera395,066,507 - 95,070,752 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map340.39NCBI
Hrnr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82181,650,772 - 181,663,633 (+)NCBIGRCr8
Rnor_6.02193,626,283 - 193,639,848 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2193,627,243 - 193,634,181 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02211,227,940 - 211,239,721 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42186,393,623 - 186,405,265 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12186,342,966 - 186,355,371 (+)NCBI
Celera2171,314,820 - 171,318,755 (-)NCBICelera
Cytogenetic Map2q34NCBI
HRNR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2197,599,034 - 97,614,267 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1197,350,236 - 97,362,876 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01127,570,653 - 127,583,285 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
LOC119863999
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.01762,211,458 - 62,220,185 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11761,039,431 - 61,048,151 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01761,126,410 - 61,133,175 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01761,854,570 - 61,863,299 (-)NCBIUU_Cfam_GSD_1.0
HRNR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1496,983,596 - 96,992,606 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HRNR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12011,439,492 - 11,442,174 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603810,984,280 - 10,996,449 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in HRNR
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001009931.2(HRNR):c.8552G>A (p.Ter2851=) single nucleotide variant Malignant melanoma [RCV000059878] Chr1:152213077 [GRCh38]
Chr1:152185553 [GRCh37]
Chr1:150452177 [NCBI36]
Chr1:1q21.3		 not provided
NM_001009931.2(HRNR):c.1113C>T (p.Ser371=) single nucleotide variant Malignant melanoma [RCV000059879] Chr1:152220516 [GRCh38]
Chr1:152192992 [GRCh37]
Chr1:150459616 [NCBI36]
Chr1:1q21.3		 not provided
NM_001009931.2(HRNR):c.6090C>T (p.Gly2030=) single nucleotide variant Malignant melanoma [RCV000064150] Chr1:152215539 [GRCh38]
Chr1:152188015 [GRCh37]
Chr1:150454639 [NCBI36]
Chr1:1q21.3		 not provided
NM_001009931.2(HRNR):c.2511C>T (p.His837=) single nucleotide variant Malignant melanoma [RCV000064151] Chr1:152219118 [GRCh38]
Chr1:152191594 [GRCh37]
Chr1:150458218 [NCBI36]
Chr1:1q21.3		 not provided
NM_001009931.2(HRNR):c.2228G>A (p.Gly743Glu) single nucleotide variant Malignant melanoma [RCV000064152] Chr1:152219401 [GRCh38]
Chr1:152191877 [GRCh37]
Chr1:150458501 [NCBI36]
Chr1:1q21.3		 not provided
GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1 copy number loss See cases [RCV000143761] Chr1:151858531..152298574 [GRCh38]
Chr1:151831007..152271050 [GRCh37]
Chr1:150097631..150537674 [NCBI36]
Chr1:1q21.3		 uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001009931.3(HRNR):c.82T>C (p.Leu28=) single nucleotide variant not provided [RCV000944485] Chr1:152223172 [GRCh38]
Chr1:152195648 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.21C>T (p.Gly7=) single nucleotide variant not provided [RCV000949468] Chr1:152223233 [GRCh38]
Chr1:152195709 [GRCh37]
Chr1:1q21.3		 benign|likely benign
GRCh37/hg19 1q21.3(chr1:151850071-152295520)x3 copy number gain not provided [RCV000846163] Chr1:151850071..152295520 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3 copy number gain not provided [RCV001005138] Chr1:151798754..152306536 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.2139C>G (p.Tyr713Ter) single nucleotide variant not provided [RCV001090405] Chr1:152219490 [GRCh38]
Chr1:152191966 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.3041A>G (p.His1014Arg) single nucleotide variant Epidermolysis bullosa simplex with nail dystrophy [RCV001089804]|not provided [RCV003405295] Chr1:152218588 [GRCh38]
Chr1:152191064 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.2396G>C (p.Ser799Thr) single nucleotide variant not provided [RCV001676795] Chr1:152219233 [GRCh38]
Chr1:152191709 [GRCh37]
Chr1:1q21.3		 benign
NM_001009931.3(HRNR):c.2226C>T (p.His742=) single nucleotide variant not provided [RCV001656715] Chr1:152219403 [GRCh38]
Chr1:152191879 [GRCh37]
Chr1:1q21.3		 benign
GRCh37/hg19 1q21.3(chr1:152000477-152223996)x1 copy number loss not provided [RCV001005139] Chr1:152000477..152223996 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.1963G>C (p.Gly655Arg) single nucleotide variant not provided [RCV001090406] Chr1:152219666 [GRCh38]
Chr1:152192142 [GRCh37]
Chr1:1q21.3		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NC_000001.10:g.(?_151801885)_(152287932_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003116304] Chr1:151801885..152287932 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_001009931.3(HRNR):c.7620G>A (p.Gln2540=) single nucleotide variant not provided [RCV003456658] Chr1:152214009 [GRCh38]
Chr1:152186485 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.8030G>C (p.Arg2677Pro) single nucleotide variant not provided [RCV003408890] Chr1:152213599 [GRCh38]
Chr1:152186075 [GRCh37]
Chr1:1q21.3		 benign
NM_001009931.3(HRNR):c.7599C>A (p.Gly2533=) single nucleotide variant not provided [RCV003408891] Chr1:152214030 [GRCh38]
Chr1:152186506 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.7284T>C (p.Ser2428=) single nucleotide variant not provided [RCV003408892] Chr1:152214345 [GRCh38]
Chr1:152186821 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.7002C>A (p.Gly2334=) single nucleotide variant not provided [RCV003408893] Chr1:152214627 [GRCh38]
Chr1:152187103 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6552C>T (p.Ser2184=) single nucleotide variant not provided [RCV003408894] Chr1:152215077 [GRCh38]
Chr1:152187553 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6273T>C (p.Ser2091=) single nucleotide variant not provided [RCV003408895] Chr1:152215356 [GRCh38]
Chr1:152187832 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6264C>A (p.Ser2088=) single nucleotide variant not provided [RCV003408896] Chr1:152215365 [GRCh38]
Chr1:152187841 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6057T>C (p.His2019=) single nucleotide variant not provided [RCV003408897] Chr1:152215572 [GRCh38]
Chr1:152188048 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.931C>A (p.Arg311=) single nucleotide variant not provided [RCV003408909] Chr1:152220698 [GRCh38]
Chr1:152193174 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.900G>A (p.Gly300=) single nucleotide variant not provided [RCV003408910] Chr1:152220729 [GRCh38]
Chr1:152193205 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.742G>A (p.Gly248Arg) single nucleotide variant not provided [RCV003408911] Chr1:152220887 [GRCh38]
Chr1:152193363 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.636C>T (p.Ser212=) single nucleotide variant not provided [RCV003408912] Chr1:152220993 [GRCh38]
Chr1:152193469 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.3453T>C (p.Ser1151=) single nucleotide variant not provided [RCV003408898] Chr1:152218176 [GRCh38]
Chr1:152190652 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.3232C>T (p.Gln1078Ter) single nucleotide variant not provided [RCV003408899] Chr1:152218397 [GRCh38]
Chr1:152190873 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.3158G>A (p.Arg1053Gln) single nucleotide variant not provided [RCV003408900] Chr1:152218471 [GRCh38]
Chr1:152190947 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.3023G>C (p.Ser1008Thr) single nucleotide variant not provided [RCV003408901] Chr1:152218606 [GRCh38]
Chr1:152191082 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.2880C>T (p.His960=) single nucleotide variant not provided [RCV003408902] Chr1:152218749 [GRCh38]
Chr1:152191225 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.2447G>T (p.Gly816Val) single nucleotide variant not provided [RCV003408903] Chr1:152219182 [GRCh38]
Chr1:152191658 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.2325T>G (p.Ser775=) single nucleotide variant not provided [RCV003408904] Chr1:152219304 [GRCh38]
Chr1:152191780 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.1800C>T (p.His600=) single nucleotide variant not provided [RCV003408905] Chr1:152219829 [GRCh38]
Chr1:152192305 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.1634G>A (p.Arg545His) single nucleotide variant not provided [RCV003408906] Chr1:152219995 [GRCh38]
Chr1:152192471 [GRCh37]
Chr1:1q21.3		 benign
NM_001009931.3(HRNR):c.1578A>G (p.Gln526=) single nucleotide variant not provided [RCV003408907] Chr1:152220051 [GRCh38]
Chr1:152192527 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.1116T>A (p.Ser372=) single nucleotide variant not provided [RCV003408908] Chr1:152220513 [GRCh38]
Chr1:152192989 [GRCh37]
Chr1:1q21.3		 likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_001009931.3(HRNR):c.7110C>T (p.His2370=) single nucleotide variant not provided [RCV003886286] Chr1:152214519 [GRCh38]
Chr1:152186995 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.8374T>A (p.Ser2792Thr) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560315] Chr1:152213255 [GRCh38]
Chr1:152185731 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.423_432del (p.Arg142fs) deletion Autism [RCV004698677] Chr1:152221197..152221206 [GRCh38]
Chr1:152193673..152193682 [GRCh37]
Chr1:1q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:289
Count of miRNA genes:251
Interacting mature miRNAs:262
Transcripts:ENST00000368801
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
407399595GWAS1048571_HCOVID-19 QTL GWAS1048571 (human)0.000004COVID-191152220073152220074Human
407153104GWAS802080_Hvitamin D measurement QTL GWAS802080 (human)2e-10vitamin D measurement1152220810152220811Human
407371666GWAS1020642_Hvitamin D measurement QTL GWAS1020642 (human)7e-28vitamin D measurement1152215426152215427Human
407148456GWAS797432_Hchildhood onset asthma QTL GWAS797432 (human)8e-13childhood onset asthma1152219980152219981Human
407399316GWAS1048292_HCOVID-19 QTL GWAS1048292 (human)0.00001COVID-191152220073152220074Human

Markers in Region
AL009877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371152,185,191 - 152,185,271UniSTSGRCh37
Build 361150,451,815 - 150,451,895RGDNCBI36
Celera1125,299,873 - 125,299,953RGD
Cytogenetic Map1q21.3UniSTS
HuRef1123,562,143 - 123,562,223UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1201 2281 2684 2190 4576 1556 2023 477 1029 318 2069 5909 5481 9 3525 761 1601 1439 167

Sequence


Ensembl Acc Id: ENST00000368801   ⟹   ENSP00000357791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,212,076 - 152,224,193 (-)Ensembl
RefSeq Acc Id: NM_001009931   ⟹   NP_001009931
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,212,076 - 152,224,193 (-)NCBI
GRCh371152,184,552 - 152,196,672 (-)NCBI
Build 361150,451,182 - 150,463,293 (-)NCBI Archive
Celera1125,299,240 - 125,308,530 (-)RGD
HuRef1123,561,504 - 123,570,799 (-)NCBI
CHM1_11153,579,878 - 153,592,041 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001009931 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAR91619 (Get FASTA)   NCBI Sequence Viewer  
  BAC57496 (Get FASTA)   NCBI Sequence Viewer  
  BAD67177 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357791
  ENSP00000357791.3
GenBank Protein FAA00004 (Get FASTA)   NCBI Sequence Viewer  
  Q86YZ3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001009931   ⟸   NM_001009931
- UniProtKB: Q5DT20 (UniProtKB/Swiss-Prot),   Q5U1F4 (UniProtKB/Swiss-Prot),   Q86YZ3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000357791   ⟸   ENST00000368801
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86YZ3-F1-model_v2 AlphaFold Q86YZ3 1-1400 view protein structure
AF-Q86YZ3-F2-model_v2 AlphaFold Q86YZ3 201-1600 view protein structure
AF-Q86YZ3-F3-model_v2 AlphaFold Q86YZ3 401-1800 view protein structure
AF-Q86YZ3-F4-model_v2 AlphaFold Q86YZ3 601-2000 view protein structure
AF-Q86YZ3-F5-model_v2 AlphaFold Q86YZ3 801-2200 view protein structure
AF-Q86YZ3-F6-model_v2 AlphaFold Q86YZ3 1001-2400 view protein structure
AF-Q86YZ3-F7-model_v2 AlphaFold Q86YZ3 1201-2600 view protein structure
AF-Q86YZ3-F8-model_v2 AlphaFold Q86YZ3 1401-2800 view protein structure
AF-Q86YZ3-F9-model_v2 AlphaFold Q86YZ3 1601-2850 view protein structure

Promoters
RGD ID:6857144
Promoter ID:EPDNEW_H1726
Type:single initiation site
Name:HRNR_1
Description:hornerin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,224,193 - 152,224,253EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20846 AgrOrtholog
COSMIC HRNR COSMIC
Ensembl Genes ENSG00000197915 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368801 ENTREZGENE
  ENST00000368801.4 UniProtKB/Swiss-Prot
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot
GTEx ENSG00000197915 GTEx
HGNC ID HGNC:20846 ENTREZGENE
Human Proteome Map HRNR Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  S-100_dom UniProtKB/Swiss-Prot
  S100-fused_Epidermal_Struct UniProtKB/Swiss-Prot
  S100/CaBP-9k_CS UniProtKB/Swiss-Prot
  S100_Ca-bd_sub UniProtKB/Swiss-Prot
KEGG Report hsa:388697 UniProtKB/Swiss-Prot
NCBI Gene 388697 ENTREZGENE
OMIM 616293 OMIM
PANTHER FILAGGRIN-RELATED UniProtKB/Swiss-Prot
  PTHR22571:SF25 UniProtKB/Swiss-Prot
Pfam S_100 UniProtKB/Swiss-Prot
PharmGKB PA134936141 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
  S100_CABP UniProtKB/Swiss-Prot
SMART S_100 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
UniProt HORN_HUMAN UniProtKB/Swiss-Prot
  Q5DT20 ENTREZGENE
  Q5U1F4 ENTREZGENE
  Q86YZ3 ENTREZGENE
UniProt Secondary Q5DT20 UniProtKB/Swiss-Prot
  Q5U1F4 UniProtKB/Swiss-Prot