RNF180 (ring finger protein 180) - Rat Genome Database

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Gene: RNF180 (ring finger protein 180) Homo sapiens
Analyze
Symbol: RNF180
Name: ring finger protein 180
RGD ID: 1347772
HGNC Page HGNC:27752
Description: Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in norepinephrine metabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and serotonin metabolic process. Predicted to act upstream of or within several processes, including adult behavior; positive regulation of protein ubiquitination; and protein polyubiquitination. Predicted to be located in endoplasmic reticulum; membrane; and nuclear envelope. Predicted to be active in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: E3 ubiquitin-protein ligase RNF180; MGC120326; MGC120328; RINES; RING-type E3 ubiquitin transferase RNF180
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
GRCh38564,165,351 - 64,372,869 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl564,165,843 - 64,372,869 (+)EnsemblGRCh38hg38GRCh38
GRCh37563,461,670 - 63,668,696 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36563,497,427 - 63,549,369 (+)NCBINCBI36Build 36hg18NCBI36
Build 34563,497,426 - 63,549,369NCBI
Celera560,458,571 - 60,665,603 (+)NCBICelera
Cytogenetic Map5q12.3NCBI
HuRef560,416,366 - 60,622,951 (+)NCBIHuRef
CHM1_1563,461,335 - 63,668,352 (+)NCBICHM1_1
T2T-CHM13v2.0564,985,393 - 65,192,972 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901   PMID:18363970   PMID:20379614   PMID:21717426   PMID:21873635  
PMID:22563461   PMID:23503679   PMID:24833402   PMID:25769451   PMID:26805552   PMID:27050149   PMID:27223257   PMID:29872149   PMID:31586073   PMID:33082325   PMID:33482186   PMID:33931579  
PMID:34998818   PMID:36931259   PMID:37095741   PMID:37147733  


Genomics

Comparative Map Data
RNF180
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38564,165,351 - 64,372,869 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl564,165,843 - 64,372,869 (+)EnsemblGRCh38hg38GRCh38
GRCh37563,461,670 - 63,668,696 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36563,497,427 - 63,549,369 (+)NCBINCBI36Build 36hg18NCBI36
Build 34563,497,426 - 63,549,369NCBI
Celera560,458,571 - 60,665,603 (+)NCBICelera
Cytogenetic Map5q12.3NCBI
HuRef560,416,366 - 60,622,951 (+)NCBIHuRef
CHM1_1563,461,335 - 63,668,352 (+)NCBICHM1_1
T2T-CHM13v2.0564,985,393 - 65,192,972 (+)NCBIT2T-CHM13v2.0
Rnf180
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913105,267,075 - 105,431,406 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13105,266,509 - 105,431,323 (-)EnsemblGRCm39 Ensembl
GRCm3813105,130,567 - 105,294,818 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13105,130,001 - 105,294,815 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713105,937,574 - 106,083,094 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613106,250,383 - 106,415,159 (-)NCBIMGSCv36mm8
Celera13109,539,891 - 109,686,561 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1356.92NCBI
Rnf180
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8238,064,026 - 38,244,854 (-)NCBIGRCr8
mRatBN7.2236,330,285 - 36,511,168 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl236,330,292 - 36,512,614 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx243,445,446 - 43,632,757 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0241,504,097 - 41,691,415 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0236,359,389 - 36,546,713 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0235,718,100 - 35,892,578 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl235,718,889 - 35,870,578 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0254,840,702 - 55,009,539 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4236,186,010 - 36,253,660 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera232,280,890 - 32,455,843 (-)NCBICelera
Cytogenetic Map2q13NCBI
Rnf180
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554464,543,974 - 4,733,569 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554464,544,128 - 4,733,295 (-)NCBIChiLan1.0ChiLan1.0
RNF180
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2449,538,975 - 49,756,877 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1547,692,604 - 47,913,062 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0549,624,452 - 49,841,741 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1551,279,999 - 51,489,588 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl551,280,064 - 51,454,750 (-)Ensemblpanpan1.1panPan2
RNF180
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1250,166,987 - 50,353,694 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl250,197,137 - 50,352,946 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha247,123,982 - 47,310,531 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0250,652,171 - 50,838,819 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl250,583,194 - 50,838,812 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1247,713,305 - 47,899,710 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0248,504,093 - 48,695,296 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0249,398,273 - 49,582,944 (+)NCBIUU_Cfam_GSD_1.0
Rnf180
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213195,722,482 - 195,898,525 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364804,659,751 - 4,834,972 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364804,809,103 - 4,834,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNF180
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1642,723,065 - 42,953,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11642,686,225 - 42,951,928 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21645,753,323 - 46,078,166 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNF180
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1460,340,926 - 60,555,932 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl460,340,804 - 60,557,227 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660498,946,267 - 9,171,918 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnf180
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248155,432,991 - 5,622,914 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248155,433,057 - 5,621,833 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNF180
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001113561.1(RNF180):c.1420C>T (p.Arg474Trp) single nucleotide variant Malignant melanoma [RCV000066969] Chr5:64325378 [GRCh38]
Chr5:63621205 [GRCh37]
Chr5:63656961 [NCBI36]
Chr5:5q12.3		 not provided
NM_001113561.1(RNF180):c.1228-21519T>C single nucleotide variant Lung cancer [RCV000096117] Chr5:64303667 [GRCh38]
Chr5:63599494 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.1(RNF180):c.1580-13961A>T single nucleotide variant Lung cancer [RCV000096118] Chr5:64355654 [GRCh38]
Chr5:63651481 [GRCh37]
Chr5:5q12.3		 uncertain significance
GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3 copy number gain See cases [RCV000135640] Chr5:63207112..71291191 [GRCh38]
Chr5:62502939..70587018 [GRCh37]
Chr5:62538695..70622774 [NCBI36]
Chr5:5q12.1-13.2		 likely pathogenic
GRCh38/hg38 5q12.3(chr5:64344867-64370545)x1 copy number loss See cases [RCV000135906] Chr5:64344867..64370545 [GRCh38]
Chr5:63640694..63666372 [GRCh37]
Chr5:63676450..63702128 [NCBI36]
Chr5:5q12.3		 benign
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5q12.2-12.3(chr5:63826033-64429460)x3 copy number gain See cases [RCV000141875] Chr5:63826033..64429460 [GRCh38]
Chr5:63121860..63725287 [GRCh37]
Chr5:63157616..63761043 [NCBI36]
Chr5:5q12.2-12.3		 uncertain significance
GRCh37/hg19 5q12.1-13.2(chr5:60722469-70792199)x1 copy number loss See cases [RCV000447549] Chr5:60722469..70792199 [GRCh37]
Chr5:5q12.1-13.2		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4 copy number gain See cases [RCV000510792] Chr5:58966132..68847066 [GRCh37]
Chr5:5q12.1-13.2		 likely pathogenic
GRCh37/hg19 5q12.3(chr5:63263538-63618972)x1 copy number loss not provided [RCV000682563] Chr5:63263538..63618972 [GRCh37]
Chr5:5q12.3		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.3(chr5:63617020-63708388)x1 copy number loss not provided [RCV000744766] Chr5:63617020..63708388 [GRCh37]
Chr5:5q12.3		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q12.3(chr5:63636358-63779238)x1 copy number loss not provided [RCV001005681] Chr5:63636358..63779238 [GRCh37]
Chr5:5q12.3		 uncertain significance
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2		 likely pathogenic
NM_001113561.2(RNF180):c.1437A>T (p.Arg479Ser) single nucleotide variant not specified [RCV004317836] Chr5:64325395 [GRCh38]
Chr5:63621222 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1279A>G (p.Lys427Glu) single nucleotide variant not specified [RCV004326423] Chr5:64325237 [GRCh38]
Chr5:63621064 [GRCh37]
Chr5:5q12.3		 uncertain significance
NC_000005.9:g.(?_63256278)_(65374358_?)del deletion not provided [RCV001970200] Chr5:63256278..65374358 [GRCh37]
Chr5:5q12.3		 pathogenic
NM_001113561.2(RNF180):c.1508A>G (p.Gln503Arg) single nucleotide variant not specified [RCV004295055] Chr5:64330335 [GRCh38]
Chr5:63626162 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1585C>T (p.Arg529Cys) single nucleotide variant not specified [RCV004119818] Chr5:64369620 [GRCh38]
Chr5:63665447 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.790A>T (p.Ile264Phe) single nucleotide variant not specified [RCV004092059] Chr5:64214116 [GRCh38]
Chr5:63509943 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.593T>C (p.Leu198Pro) single nucleotide variant not specified [RCV004199560] Chr5:64213919 [GRCh38]
Chr5:63509746 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.970A>G (p.Thr324Ala) single nucleotide variant not specified [RCV004147392] Chr5:64214296 [GRCh38]
Chr5:63510123 [GRCh37]
Chr5:5q12.3		 likely benign
NM_001113561.2(RNF180):c.278G>A (p.Arg93His) single nucleotide variant not specified [RCV004227285] Chr5:64213604 [GRCh38]
Chr5:63509431 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1242G>T (p.Glu414Asp) single nucleotide variant not specified [RCV004211682] Chr5:64325200 [GRCh38]
Chr5:63621027 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.982A>G (p.Asn328Asp) single nucleotide variant not specified [RCV004230133] Chr5:64214308 [GRCh38]
Chr5:63510135 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.124C>G (p.Gln42Glu) single nucleotide variant not specified [RCV004242916] Chr5:64200931 [GRCh38]
Chr5:63496758 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1274A>C (p.Glu425Ala) single nucleotide variant not specified [RCV004125339] Chr5:64325232 [GRCh38]
Chr5:63621059 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.509G>A (p.Arg170Gln) single nucleotide variant not specified [RCV004218351] Chr5:64213835 [GRCh38]
Chr5:63509662 [GRCh37]
Chr5:5q12.3		 likely benign
NM_001113561.2(RNF180):c.460A>G (p.Thr154Ala) single nucleotide variant not specified [RCV004071163] Chr5:64213786 [GRCh38]
Chr5:63509613 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1544T>A (p.Leu515Gln) single nucleotide variant not specified [RCV004127766] Chr5:64330371 [GRCh38]
Chr5:63626198 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.579G>A (p.Met193Ile) single nucleotide variant not specified [RCV004143310] Chr5:64213905 [GRCh38]
Chr5:63509732 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.820A>G (p.Ser274Gly) single nucleotide variant not specified [RCV004165123] Chr5:64214146 [GRCh38]
Chr5:63509973 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.930T>A (p.Phe310Leu) single nucleotide variant not specified [RCV004316461] Chr5:64214256 [GRCh38]
Chr5:63510083 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.109G>A (p.Glu37Lys) single nucleotide variant not specified [RCV004254674] Chr5:64200916 [GRCh38]
Chr5:63496743 [GRCh37]
Chr5:5q12.3		 likely benign
NM_001113561.2(RNF180):c.1242G>C (p.Glu414Asp) single nucleotide variant not specified [RCV004287391] Chr5:64325200 [GRCh38]
Chr5:63621027 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.311A>C (p.Lys104Thr) single nucleotide variant not specified [RCV004349581] Chr5:64213637 [GRCh38]
Chr5:63509464 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1064T>C (p.Leu355Pro) single nucleotide variant not specified [RCV004360204] Chr5:64214390 [GRCh38]
Chr5:63510217 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.831C>G (p.Ser277Arg) single nucleotide variant not specified [RCV004361101] Chr5:64214157 [GRCh38]
Chr5:63509984 [GRCh37]
Chr5:5q12.3		 uncertain significance
Single allele deletion not provided [RCV003448709] Chr5:62757224..67825254 [GRCh37]
Chr5:5q12.1-13.1		 uncertain significance
NM_001113561.2(RNF180):c.1391A>G (p.Asn464Ser) single nucleotide variant not specified [RCV004446528] Chr5:64325349 [GRCh38]
Chr5:63621176 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.196G>A (p.Ala66Thr) single nucleotide variant not specified [RCV004446531] Chr5:64212125 [GRCh38]
Chr5:63507952 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.833A>G (p.Tyr278Cys) single nucleotide variant not specified [RCV004446535] Chr5:64214159 [GRCh38]
Chr5:63509986 [GRCh37]
Chr5:5q12.3		 likely benign
NM_001113561.2(RNF180):c.521A>G (p.Asp174Gly) single nucleotide variant not specified [RCV004446533] Chr5:64213847 [GRCh38]
Chr5:63509674 [GRCh37]
Chr5:5q12.3		 likely benign
NM_001113561.2(RNF180):c.560G>A (p.Arg187Gln) single nucleotide variant not specified [RCV004446534] Chr5:64213886 [GRCh38]
Chr5:63509713 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1169G>A (p.Arg390His) single nucleotide variant not specified [RCV004446527] Chr5:64214495 [GRCh38]
Chr5:63510322 [GRCh37]
Chr5:5q12.3		 likely benign
NM_001113561.2(RNF180):c.941T>C (p.Leu314Pro) single nucleotide variant not specified [RCV004446536] Chr5:64214267 [GRCh38]
Chr5:63510094 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1763T>G (p.Phe588Cys) single nucleotide variant not specified [RCV004446529] Chr5:64369798 [GRCh38]
Chr5:63665625 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1772C>T (p.Pro591Leu) single nucleotide variant not specified [RCV004446530] Chr5:64369807 [GRCh38]
Chr5:63665634 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.1003C>G (p.Leu335Val) single nucleotide variant not specified [RCV004665444] Chr5:64214329 [GRCh38]
Chr5:63510156 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.746A>G (p.His249Arg) single nucleotide variant not specified [RCV004665443] Chr5:64214072 [GRCh38]
Chr5:63509899 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_001113561.2(RNF180):c.40C>A (p.Gln14Lys) single nucleotide variant not specified [RCV004672126] Chr5:64200847 [GRCh38]
Chr5:63496674 [GRCh37]
Chr5:5q12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1368
Count of miRNA genes:718
Interacting mature miRNAs:810
Transcripts:ENST00000296615, ENST00000381081, ENST00000389100, ENST00000504296
Prediction methods:Microtar, 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
406988173GWAS637149_Hintelligence QTL GWAS637149 (human)0.000006intelligence56434377264343773Human

Markers in Region
D5S1359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37563,572,081 - 63,572,267UniSTSGRCh37
Celera560,568,987 - 60,569,173UniSTS
HuRef560,526,519 - 60,526,705UniSTS
Marshfield Genetic Map570.44RGD
D5S668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37563,618,336 - 63,618,485UniSTSGRCh37
Celera560,615,243 - 60,615,392UniSTS
Cytogenetic Map5q12.3UniSTS
HuRef560,572,774 - 60,572,921UniSTS
Marshfield Genetic Map570.44RGD
Genethon Genetic Map571.2UniSTS
TNG Radiation Hybrid Map528878.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
GeneMap99-G3 RH Map52349.0UniSTS
SHGC-30782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37563,668,551 - 63,668,676UniSTSGRCh37
Build 36563,704,307 - 63,704,432RGDNCBI36
Celera560,665,458 - 60,665,583RGD
Cytogenetic Map5q12.3UniSTS
HuRef560,622,806 - 60,622,931UniSTS
Stanford-G3 RH Map52348.0UniSTS
GeneMap99-GB4 RH Map5316.34UniSTS
Whitehead-RH Map5226.8UniSTS
NCBI RH Map5285.2UniSTS
GeneMap99-G3 RH Map52343.0UniSTS
RH92875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37563,501,042 - 63,501,200UniSTSGRCh37
Build 36563,536,798 - 63,536,956RGDNCBI36
Celera560,497,948 - 60,498,106RGD
Cytogenetic Map5q12.3UniSTS
HuRef560,455,762 - 60,455,920UniSTS
GeneMap99-GB4 RH Map5313.73UniSTS
SHGC-34946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37563,593,041 - 63,593,182UniSTSGRCh37
Build 36563,628,797 - 63,628,938RGDNCBI36
Celera560,589,948 - 60,590,089RGD
Cytogenetic Map5q12.3UniSTS
HuRef560,547,480 - 60,547,621UniSTS
Stanford-G3 RH Map52354.0UniSTS
GeneMap99-GB4 RH Map5314.97UniSTS
Whitehead-RH Map5225.2UniSTS
NCBI RH Map5285.7UniSTS
GeneMap99-G3 RH Map52349.0UniSTS
WI-14912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37563,665,583 - 63,665,684UniSTSGRCh37
Build 36563,701,339 - 63,701,440RGDNCBI36
Celera560,662,490 - 60,662,591RGD
Cytogenetic Map5q12.3UniSTS
HuRef560,619,838 - 60,619,939UniSTS
GeneMap99-GB4 RH Map5314.64UniSTS
Whitehead-RH Map5225.2UniSTS
NCBI RH Map5285.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2339 2788 2233 4938 1710 2270 4 615 1367 454 2254 6639 5901 36 3709 1 838 1714 1548 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001113561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA183707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA809479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296615   ⟹   ENSP00000296615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl564,165,844 - 64,217,786 (+)Ensembl
Ensembl Acc Id: ENST00000389100   ⟹   ENSP00000373752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl564,165,843 - 64,372,869 (+)Ensembl
Ensembl Acc Id: ENST00000504296   ⟹   ENSP00000426884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl564,166,162 - 64,213,647 (+)Ensembl
RefSeq Acc Id: NM_001113561   ⟹   NP_001107033
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,372,869 (+)NCBI
GRCh37563,461,671 - 63,668,704 (+)NCBI
Celera560,458,571 - 60,665,603 (+)RGD
HuRef560,416,366 - 60,622,951 (+)ENTREZGENE
CHM1_1563,461,334 - 63,668,352 (+)NCBI
T2T-CHM13v2.0564,985,947 - 65,192,972 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323291   ⟹   NP_001310220
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,217,786 (+)NCBI
CHM1_1563,461,334 - 63,513,290 (+)NCBI
T2T-CHM13v2.0564,985,947 - 65,037,897 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323292   ⟹   NP_001310221
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,335,965 (+)NCBI
CHM1_1563,461,334 - 63,631,414 (+)NCBI
T2T-CHM13v2.0564,985,947 - 65,156,068 (+)NCBI
Sequence:
RefSeq Acc Id: NM_178532   ⟹   NP_848627
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,217,786 (+)NCBI
GRCh37563,461,671 - 63,668,704 (+)NCBI
Build 36563,497,427 - 63,549,369 (+)NCBI Archive
Celera560,458,571 - 60,665,603 (+)RGD
HuRef560,416,366 - 60,622,951 (+)ENTREZGENE
CHM1_1563,461,334 - 63,513,290 (+)NCBI
T2T-CHM13v2.0564,985,947 - 65,037,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009383   ⟹   XP_016864872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,372,869 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009386   ⟹   XP_016864875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,339,262 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009387   ⟹   XP_016864876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,328,166 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009388   ⟹   XP_016864877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,351 - 64,372,869 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009389   ⟹   XP_016864878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,166,142 - 64,372,869 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417116   ⟹   XP_047273072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,843 - 64,339,262 (+)NCBI
RefSeq Acc Id: XM_047417118   ⟹   XP_047273074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,351 - 64,372,869 (+)NCBI
RefSeq Acc Id: XM_047417119   ⟹   XP_047273075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,351 - 64,372,869 (+)NCBI
RefSeq Acc Id: XM_047417120   ⟹   XP_047273076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,351 - 64,372,869 (+)NCBI
RefSeq Acc Id: XM_047417121   ⟹   XP_047273077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,987 - 64,372,869 (+)NCBI
RefSeq Acc Id: XM_047417122   ⟹   XP_047273078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,166,109 - 64,339,262 (+)NCBI
RefSeq Acc Id: XM_054352446   ⟹   XP_054208421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,947 - 65,192,972 (+)NCBI
RefSeq Acc Id: XM_054352447   ⟹   XP_054208422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,947 - 65,156,551 (+)NCBI
RefSeq Acc Id: XM_054352448   ⟹   XP_054208423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,947 - 65,156,551 (+)NCBI
RefSeq Acc Id: XM_054352449   ⟹   XP_054208424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,947 - 65,148,269 (+)NCBI
RefSeq Acc Id: XM_054352450   ⟹   XP_054208425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,408 - 65,192,972 (+)NCBI
RefSeq Acc Id: XM_054352451   ⟹   XP_054208426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,460 - 65,192,972 (+)NCBI
RefSeq Acc Id: XM_054352452   ⟹   XP_054208427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,986,246 - 65,192,972 (+)NCBI
RefSeq Acc Id: XM_054352453   ⟹   XP_054208428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,393 - 65,192,972 (+)NCBI
RefSeq Acc Id: XM_054352454   ⟹   XP_054208429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,985,460 - 65,192,972 (+)NCBI
RefSeq Acc Id: XM_054352455   ⟹   XP_054208430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,986,091 - 65,192,972 (+)NCBI
RefSeq Acc Id: XM_054352456   ⟹   XP_054208431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0564,986,213 - 65,156,551 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001107033 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310220 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310221 (Get FASTA)   NCBI Sequence Viewer  
  NP_848627 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864872 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864875 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864876 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864877 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864878 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273072 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273076 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273077 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208421 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208422 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208423 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208424 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208425 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208426 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208427 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208428 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208429 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208430 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208431 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI01278 (Get FASTA)   NCBI Sequence Viewer  
  AAI01279 (Get FASTA)   NCBI Sequence Viewer  
  AAI01280 (Get FASTA)   NCBI Sequence Viewer  
  AAI01398 (Get FASTA)   NCBI Sequence Viewer  
  BAC03514 (Get FASTA)   NCBI Sequence Viewer  
  CAD89939 (Get FASTA)   NCBI Sequence Viewer  
  EAW51373 (Get FASTA)   NCBI Sequence Viewer  
  EAW51374 (Get FASTA)   NCBI Sequence Viewer  
  EAW51375 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000296615
  ENSP00000296615.6
  ENSP00000373752
  ENSP00000373752.4
  ENSP00000426884.1
GenBank Protein Q86T96 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001107033   ⟸   NM_001113561
- Peptide Label: isoform 1
- UniProtKB: Q495A8 (UniProtKB/Swiss-Prot),   Q0JSU3 (UniProtKB/Swiss-Prot),   Q8NBD1 (UniProtKB/Swiss-Prot),   Q86T96 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_848627   ⟸   NM_178532
- Peptide Label: isoform 2
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310221   ⟸   NM_001323292
- Peptide Label: isoform 4
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310220   ⟸   NM_001323291
- Peptide Label: isoform 3
- UniProtKB: D6RE88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864877   ⟸   XM_017009388
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016864872   ⟸   XM_017009383
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016864875   ⟸   XM_017009386
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016864876   ⟸   XM_017009387
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016864878   ⟸   XM_017009389
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000426884   ⟸   ENST00000504296
Ensembl Acc Id: ENSP00000296615   ⟸   ENST00000296615
Ensembl Acc Id: ENSP00000373752   ⟸   ENST00000389100
RefSeq Acc Id: XP_047273074   ⟸   XM_047417118
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047273076   ⟸   XM_047417120
- Peptide Label: isoform X5
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot),   Q495A8 (UniProtKB/Swiss-Prot),   Q0JSU3 (UniProtKB/Swiss-Prot),   Q8NBD1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047273075   ⟸   XM_047417119
- Peptide Label: isoform X5
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot),   Q495A8 (UniProtKB/Swiss-Prot),   Q0JSU3 (UniProtKB/Swiss-Prot),   Q8NBD1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047273072   ⟸   XM_047417116
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273077   ⟸   XM_047417121
- Peptide Label: isoform X5
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot),   Q495A8 (UniProtKB/Swiss-Prot),   Q0JSU3 (UniProtKB/Swiss-Prot),   Q8NBD1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047273078   ⟸   XM_047417122
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208428   ⟸   XM_054352453
- Peptide Label: isoform X5
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot),   Q495A8 (UniProtKB/Swiss-Prot),   Q0JSU3 (UniProtKB/Swiss-Prot),   Q8NBD1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054208425   ⟸   XM_054352450
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208426   ⟸   XM_054352451
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208429   ⟸   XM_054352454
- Peptide Label: isoform X5
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot),   Q495A8 (UniProtKB/Swiss-Prot),   Q0JSU3 (UniProtKB/Swiss-Prot),   Q8NBD1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054208421   ⟸   XM_054352446
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208422   ⟸   XM_054352447
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054208423   ⟸   XM_054352448
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208424   ⟸   XM_054352449
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054208430   ⟸   XM_054352455
- Peptide Label: isoform X5
- UniProtKB: Q86T96 (UniProtKB/Swiss-Prot),   Q495A8 (UniProtKB/Swiss-Prot),   Q0JSU3 (UniProtKB/Swiss-Prot),   Q8NBD1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054208431   ⟸   XM_054352456
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208427   ⟸   XM_054352452
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86T96-F1-model_v2 AlphaFold Q86T96 1-592 view protein structure

Promoters
RGD ID:6803518
Promoter ID:HG_KWN:50237
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000296615,   ENST00000381081,   NM_001113561
Position:
Human AssemblyChrPosition (strand)Source
Build 36563,497,264 - 63,497,764 (+)MPROMDB
RGD ID:6869714
Promoter ID:EPDNEW_H8022
Type:initiation region
Name:RNF180_2
Description:ring finger protein 180
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8023  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,351 - 64,165,411EPDNEW
RGD ID:6869716
Promoter ID:EPDNEW_H8023
Type:initiation region
Name:RNF180_1
Description:ring finger protein 180
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8022  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38564,165,879 - 64,165,939EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27752 AgrOrtholog
COSMIC RNF180 COSMIC
Ensembl Genes ENSG00000164197 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296615 ENTREZGENE
  ENST00000296615.10 UniProtKB/Swiss-Prot
  ENST00000389100 ENTREZGENE
  ENST00000389100.9 UniProtKB/Swiss-Prot
  ENST00000504296.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000164197 GTEx
HGNC ID HGNC:27752 ENTREZGENE
Human Proteome Map RNF180 Human Proteome Map
InterPro RNF180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNF180_C UniProtKB/Swiss-Prot
  Znf_C3HC4_RING-type UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
  Znf_RING_CS UniProtKB/Swiss-Prot
KEGG Report hsa:285671 UniProtKB/Swiss-Prot
NCBI Gene 285671 ENTREZGENE
OMIM 616015 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE RNF180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46717 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RNF180_C UniProtKB/Swiss-Prot
  zf-C3HC4 UniProtKB/Swiss-Prot
PharmGKB PA134980027 PharmGKB
PROSITE ZF_RING_1 UniProtKB/Swiss-Prot
  ZF_RING_2 UniProtKB/Swiss-Prot
SMART RING UniProtKB/Swiss-Prot
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot
UniProt D6RE88 ENTREZGENE, UniProtKB/TrEMBL
  Q0JSU3 ENTREZGENE
  Q495A8 ENTREZGENE
  Q86T96 ENTREZGENE
  Q8NBD1 ENTREZGENE
  RN180_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q0JSU3 UniProtKB/Swiss-Prot
  Q495A8 UniProtKB/Swiss-Prot
  Q8NBD1 UniProtKB/Swiss-Prot