RFTN1 (raftlin, lipid raft linker 1) - Rat Genome Database

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Gene: RFTN1 (raftlin, lipid raft linker 1) Homo sapiens
Analyze
Symbol: RFTN1
Name: raftlin, lipid raft linker 1
RGD ID: 1604380
HGNC Page HGNC:30278
Description: Enables double-stranded RNA binding activity. Involved in B cell receptor signaling pathway; membrane raft assembly; and positive regulation of growth rate. Acts upstream of or within dsRNA transport; response to exogenous dsRNA; and toll-like receptor 3 signaling pathway. Located in endosome; membrane raft; and plasma membrane. Part of protein-containing complex. Biomarker of glaucoma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cell migration-inducing gene 2 protein; FLJ23866; KIAA0084; MGC141678; MGC44480; MIG2; PIB10; PIG9; proliferation-inducing protein 10; proliferation-inducing protein 9; raft-linking protein; raftlin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RFTN1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38316,315,845 - 16,513,699 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl316,313,574 - 16,514,026 (-)EnsemblGRCh38hg38GRCh38
GRCh37316,357,352 - 16,555,206 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36316,332,356 - 16,530,226 (-)NCBINCBI36Build 36hg18NCBI36
Celera316,296,470 - 16,494,283 (-)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef316,290,978 - 16,488,996 (-)NCBIHuRef
CHM1_1316,308,420 - 16,506,893 (-)NCBICHM1_1
T2T-CHM13v2.0316,317,057 - 16,514,836 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
3p deletion syndrome  (IAGP)
glaucoma  (IEP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cantharidin  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
chloroethene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DDT  (ISO)
Dibutyl phosphate  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
Enterolactone  (EXP)
fonofos  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
inulin  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
parathion  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
theophylline  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
vitamin E  (EXP)

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
3. Integrated microarray analysis provided novel insights to the pathogenesis of glaucoma. Wang J, etal., Mol Med Rep. 2017 Dec;16(6):8735-8746. doi: 10.3892/mmr.2017.7711. Epub 2017 Oct 4.
Additional References at PubMed
PMID:7788527   PMID:12477932   PMID:12805216   PMID:15489334   PMID:16344560   PMID:17081983   PMID:19553259   PMID:19786618   PMID:19834535   PMID:20379614   PMID:20395239   PMID:20458337  
PMID:21266579   PMID:21955986   PMID:22222511   PMID:22810586   PMID:23645746   PMID:24104479   PMID:26186194   PMID:26760575   PMID:27022195   PMID:27880917   PMID:28514442   PMID:29509190  
PMID:29568061   PMID:31091453   PMID:31527615   PMID:31536960   PMID:32274611   PMID:33961781   PMID:34079125   PMID:34709727   PMID:35490655   PMID:35575683   PMID:35676659   PMID:36139155  
PMID:36215168   PMID:36341844   PMID:36424410   PMID:36976175   PMID:37208489   PMID:38117590   PMID:38278125  


Genomics

Comparative Map Data
RFTN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38316,315,845 - 16,513,699 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl316,313,574 - 16,514,026 (-)EnsemblGRCh38hg38GRCh38
GRCh37316,357,352 - 16,555,206 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36316,332,356 - 16,530,226 (-)NCBINCBI36Build 36hg18NCBI36
Celera316,296,470 - 16,494,283 (-)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef316,290,978 - 16,488,996 (-)NCBIHuRef
CHM1_1316,308,420 - 16,506,893 (-)NCBICHM1_1
T2T-CHM13v2.0316,317,057 - 16,514,836 (-)NCBIT2T-CHM13v2.0
Rftn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391750,300,287 - 50,497,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1750,299,285 - 50,497,702 (-)EnsemblGRCm39 Ensembl
GRCm381749,993,258 - 50,190,497 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1749,992,257 - 50,190,674 (-)EnsemblGRCm38mm10GRCm38
MGSCv371750,132,632 - 50,329,822 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361749,458,874 - 49,656,064 (-)NCBIMGSCv36mm8
Celera1753,430,090 - 53,626,629 (-)NCBICelera
Cytogenetic Map17CNCBI
cM Map1725.86NCBI
Rftn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8918,302,143 - 18,499,819 (+)NCBIGRCr8
mRatBN7.2910,804,611 - 11,002,084 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl910,804,611 - 11,002,084 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx919,306,013 - 19,502,552 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0924,372,610 - 24,569,138 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0922,754,195 - 22,950,721 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0912,740,885 - 12,942,358 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl912,740,885 - 12,942,358 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0911,679,882 - 11,880,237 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.496,008,948 - 6,207,477 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera98,582,887 - 8,778,558 (+)NCBICelera
Cytogenetic Map9q12NCBI
Rftn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554308,603,401 - 8,779,896 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554308,605,057 - 8,801,187 (-)NCBIChiLan1.0ChiLan1.0
RFTN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2216,301,250 - 16,500,922 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1316,306,013 - 16,505,411 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0316,241,255 - 16,441,402 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1316,578,092 - 16,778,464 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl316,578,092 - 16,778,464 (-)Ensemblpanpan1.1panPan2
RFTN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12326,272,103 - 26,472,610 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2326,282,392 - 26,472,536 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2326,247,350 - 26,447,817 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02326,773,327 - 26,973,915 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2326,773,112 - 26,973,909 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12326,474,319 - 26,674,595 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02326,535,808 - 26,736,282 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02326,784,871 - 26,985,542 (+)NCBIUU_Cfam_GSD_1.0
Rftn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118175,980,661 - 176,179,125 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364739,117,247 - 9,317,704 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364739,119,234 - 9,317,696 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RFTN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl133,454,454 - 3,674,998 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1133,454,448 - 3,675,072 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2133,744,156 - 3,861,922 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RFTN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11561,159,573 - 61,290,342 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1561,159,930 - 61,289,965 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604134,169,257 - 34,371,665 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rftn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248211,562,778 - 1,751,345 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248211,561,845 - 1,763,654 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RFTN1
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
NM_015150.1(RFTN1):c.332+11767C>A single nucleotide variant Lung cancer [RCV000093220] Chr3:16422084 [GRCh38]
Chr3:16463591 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1435A>G (p.Lys479Glu) single nucleotide variant not specified [RCV004254955] Chr3:16317130 [GRCh38]
Chr3:16358637 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3 copy number gain See cases [RCV000143403] Chr3:15304910..16372771 [GRCh38]
Chr3:15346417..16414278 [GRCh37]
Chr3:15321421..16389282 [NCBI36]
Chr3:3p25.1-24.3		 likely benign
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 copy number gain See cases [RCV000143767] Chr3:14360747..21656134 [GRCh38]
Chr3:14402247..21697626 [GRCh37]
Chr3:14377251..21672630 [NCBI36]
Chr3:3p25.1-24.3		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1 copy number loss See cases [RCV000511037] Chr3:13720222..17808236 [GRCh37]
Chr3:3p25.1-24.3		 likely pathogenic
NM_015150.2(RFTN1):c.1352G>A (p.Arg451Lys) single nucleotide variant not specified [RCV004325941] Chr3:16317213 [GRCh38]
Chr3:16358720 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_015150.2(RFTN1):c.1524G>A (p.Met508Ile) single nucleotide variant not specified [RCV004320432] Chr3:16317041 [GRCh38]
Chr3:16358548 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2		 pathogenic
GRCh37/hg19 3p25.1-24.3(chr3:15752529-16524171)x3 copy number gain not provided [RCV000849424] Chr3:15752529..16524171 [GRCh37]
Chr3:3p25.1-24.3		 uncertain significance
NM_015150.2(RFTN1):c.43C>T (p.Arg15Trp) single nucleotide variant not specified [RCV004302419] Chr3:16493827 [GRCh38]
Chr3:16535334 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.792C>A (p.Asn264Lys) single nucleotide variant not specified [RCV004326636] Chr3:16377752 [GRCh38]
Chr3:16419259 [GRCh37]
Chr3:3p24.3		 uncertain significance
Single allele deletion 3p- syndrome [RCV002280352] Chr3:13371737..20095506 [GRCh38]
Chr3:3p25.1-24.3		 pathogenic
NM_015150.2(RFTN1):c.1390G>A (p.Gly464Ser) single nucleotide variant not specified [RCV004326461] Chr3:16317175 [GRCh38]
Chr3:16358682 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3 copy number gain not provided [RCV001834333] Chr3:15085863..16402392 [GRCh37]
Chr3:3p25.1-24.3		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 copy number gain See cases [RCV002287839] Chr3:13836340..25357427 [GRCh37]
Chr3:3p25.1-24.2		 pathogenic
NM_015150.2(RFTN1):c.724G>A (p.Gly242Arg) single nucleotide variant not specified [RCV004171418] Chr3:16377820 [GRCh38]
Chr3:16419327 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1721C>T (p.Thr574Met) single nucleotide variant not specified [RCV004231168] Chr3:16316844 [GRCh38]
Chr3:16358351 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1355A>G (p.Glu452Gly) single nucleotide variant not specified [RCV004147675] Chr3:16317210 [GRCh38]
Chr3:16358717 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1457C>A (p.Ser486Tyr) single nucleotide variant not specified [RCV004195482] Chr3:16317108 [GRCh38]
Chr3:16358615 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.592G>A (p.Ala198Thr) single nucleotide variant not specified [RCV004202820] Chr3:16377952 [GRCh38]
Chr3:16419459 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.694C>G (p.Pro232Ala) single nucleotide variant not specified [RCV004237947] Chr3:16377850 [GRCh38]
Chr3:16419357 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.937G>A (p.Gly313Ser) single nucleotide variant not specified [RCV004078359] Chr3:16370169 [GRCh38]
Chr3:16411676 [GRCh37]
Chr3:3p24.3		 likely benign
NM_015150.2(RFTN1):c.23T>C (p.Leu8Ser) single nucleotide variant not specified [RCV004157392] Chr3:16493847 [GRCh38]
Chr3:16535354 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.878G>T (p.Arg293Leu) single nucleotide variant not specified [RCV004092167] Chr3:16370228 [GRCh38]
Chr3:16411735 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.712A>C (p.Ser238Arg) single nucleotide variant not specified [RCV004213395] Chr3:16377832 [GRCh38]
Chr3:16419339 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.788G>A (p.Ser263Asn) single nucleotide variant not specified [RCV004076691] Chr3:16377756 [GRCh38]
Chr3:16419263 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1730A>G (p.Glu577Gly) single nucleotide variant not specified [RCV004195483] Chr3:16316835 [GRCh38]
Chr3:16358342 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.736G>C (p.Gly246Arg) single nucleotide variant not specified [RCV004093724] Chr3:16377808 [GRCh38]
Chr3:16419315 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1517A>G (p.Glu506Gly) single nucleotide variant not specified [RCV004123531] Chr3:16317048 [GRCh38]
Chr3:16358555 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.946G>A (p.Ala316Thr) single nucleotide variant not specified [RCV004284824] Chr3:16370160 [GRCh38]
Chr3:16411667 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1459A>G (p.Lys487Glu) single nucleotide variant not specified [RCV004334989] Chr3:16317106 [GRCh38]
Chr3:16358613 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.1003G>A (p.Ala335Thr) single nucleotide variant not specified [RCV004342811] Chr3:16370103 [GRCh38]
Chr3:16411610 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.213G>C (p.Glu71Asp) single nucleotide variant not specified [RCV004335394] Chr3:16433970 [GRCh38]
Chr3:16475477 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p25.1(chr3:16320205-16399521)x1 copy number loss not provided [RCV003485379] Chr3:16320205..16399521 [GRCh37]
Chr3:3p25.1		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_015150.2(RFTN1):c.699C>T (p.Leu233=) single nucleotide variant not provided [RCV003433493] Chr3:16377845 [GRCh38]
Chr3:16419352 [GRCh37]
Chr3:3p24.3		 likely benign
NM_015150.2(RFTN1):c.1233C>T (p.Pro411=) single nucleotide variant not provided [RCV003433492] Chr3:16326790 [GRCh38]
Chr3:16368297 [GRCh37]
Chr3:3p24.3		 likely benign
NM_015150.2(RFTN1):c.1566T>C (p.Pro522=) single nucleotide variant not provided [RCV003433491] Chr3:16316999 [GRCh38]
Chr3:16358506 [GRCh37]
Chr3:3p24.3		 likely benign
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_015150.2(RFTN1):c.55A>G (p.Ile19Val) single nucleotide variant not specified [RCV004446330] Chr3:16493815 [GRCh38]
Chr3:16535322 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.877C>T (p.Arg293Trp) single nucleotide variant not specified [RCV004446331] Chr3:16370229 [GRCh38]
Chr3:16411736 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_015150.2(RFTN1):c.396A>C (p.Leu132Phe) single nucleotide variant not specified [RCV004446329] Chr3:16409420 [GRCh38]
Chr3:16450927 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_015150.2(RFTN1):c.1724T>C (p.Val575Ala) single nucleotide variant not specified [RCV004658315] Chr3:16316841 [GRCh38]
Chr3:16358348 [GRCh37]
Chr3:3p24.3		 likely benign
NM_015150.2(RFTN1):c.115C>T (p.Arg39Cys) single nucleotide variant not specified [RCV004658314] Chr3:16493755 [GRCh38]
Chr3:16535262 [GRCh37]
Chr3:3p24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2839
Count of miRNA genes:929
Interacting mature miRNAs:1102
Transcripts:ENST00000334133, ENST00000431547, ENST00000432519, ENST00000441460, ENST00000449415, ENST00000451036, ENST00000453536, ENST00000470458, ENST00000483671, ENST00000484752, ENST00000495666, ENST00000607320
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406888482GWAS537458_Hlateral orbital frontal cortex volume measurement QTL GWAS537458 (human)0.000004orbitofrontal cortex morphology trait (VT:0004170)31634688316346884Human
407128006GWAS776982_Hobesity QTL GWAS776982 (human)0.000005obesity31636698216366983Human
406963875GWAS612851_HCOVID-19 QTL GWAS612851 (human)4e-13COVID-1931639809116398092Human
406965061GWAS614037_HCOVID-19 QTL GWAS614037 (human)0.000009COVID-1931639992116399922Human
406932615GWAS581591_Hresponse to antibiotic, hematological measurement QTL GWAS581591 (human)4e-08response to antibiotic, hematological measurementblood measurement (CMO:0000035)31650970616509707Human
407025640GWAS674616_Hoptic disc size measurement QTL GWAS674616 (human)0.0000006optic disc size measurement31635416116354162Human
406956908GWAS605884_Hfumarate measurement QTL GWAS605884 (human)3e-08fumarate measurement31641651616416517Human
406921169GWAS570145_HCOVID-19 QTL GWAS570145 (human)2e-08COVID-1931639809916398100Human
407039539GWAS688515_Hurate measurement, body mass index QTL GWAS688515 (human)0.000006urate measurement, body mass indexbody mass index (BMI) (CMO:0000105)31637604816376049Human
407151446GWAS800422_Hthoracic aortic aneurysm QTL GWAS800422 (human)0.0000008thoracic aortic aneurysm31632202216322023Human
406963859GWAS612835_HCOVID-19 QTL GWAS612835 (human)0.0000002COVID-1931641297316412974Human
406905810GWAS554786_HS-warfarin measurement QTL GWAS554786 (human)0.000004S-warfarin measurement31646686316466864Human
407275762GWAS924738_Hbody height QTL GWAS924738 (human)4e-10body height (VT:0001253)body height (CMO:0000106)31649682116496822Human
407416189GWAS1065165_Hdiastolic blood pressure QTL GWAS1065165 (human)1e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)31632218216322183Human
406966068GWAS615044_HCOVID-19 QTL GWAS615044 (human)0.000004COVID-1931640307416403075Human
407027927GWAS676903_Hlanguage measurement QTL GWAS676903 (human)0.000005language measurement31646667216466673Human
406964502GWAS613478_HCOVID-19 QTL GWAS613478 (human)0.0000003COVID-1931640591916405920Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
407025560GWAS674536_Hoptic disc size measurement QTL GWAS674536 (human)0.0000002optic disc size measurement31635416116354162Human
406885663GWAS534639_Hsystolic blood pressure QTL GWAS534639 (human)8e-10systolic blood pressuresystolic blood pressure (CMO:0000004)31632218216322183Human

Markers in Region
D3S3473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,522,348 - 16,522,566UniSTSGRCh37
Build 36316,497,352 - 16,497,570RGDNCBI36
Celera316,461,411 - 16,461,629RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,456,119 - 16,456,337UniSTS
Marshfield Genetic Map342.1UniSTS
Marshfield Genetic Map342.1RGD
Genethon Genetic Map335.8UniSTS
deCODE Assembly Map336.69UniSTS
Stanford-G3 RH Map3794.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3185.3UniSTS
GeneMap99-G3 RH Map3794.0UniSTS
RH12058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,357,416 - 16,357,580UniSTSGRCh37
Build 36316,332,420 - 16,332,584RGDNCBI36
Celera316,296,534 - 16,296,698RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,291,042 - 16,291,206UniSTS
GeneMap99-GB4 RH Map369.58UniSTS
NCBI RH Map3192.6UniSTS
RH35828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,502,627 - 16,502,800UniSTSGRCh37
Build 36316,477,631 - 16,477,804RGDNCBI36
Celera316,441,690 - 16,441,863RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,436,396 - 16,436,569UniSTS
GeneMap99-GB4 RH Map368.65UniSTS
RH92877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,381,082 - 16,381,205UniSTSGRCh37
Build 36316,356,086 - 16,356,209RGDNCBI36
Celera316,320,200 - 16,320,323RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,314,708 - 16,314,831UniSTS
GeneMap99-GB4 RH Map369.79UniSTS
SHGC-58196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,433,448 - 16,433,666UniSTSGRCh37
Build 36316,408,452 - 16,408,670RGDNCBI36
Celera316,372,558 - 16,372,776RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,367,016 - 16,367,234UniSTS
TNG Radiation Hybrid Map39787.0UniSTS
SHGC-79918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,392,438 - 16,392,729UniSTSGRCh37
Build 36316,367,442 - 16,367,733RGDNCBI36
Celera316,331,550 - 16,331,841RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,326,036 - 16,326,327UniSTS
TNG Radiation Hybrid Map39774.0UniSTS
SHGC-86345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,465,327 - 16,465,599UniSTSGRCh37
Build 36316,440,331 - 16,440,603RGDNCBI36
Celera316,404,389 - 16,404,661RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,399,081 - 16,399,353UniSTS
SHGC-83722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,513,475 - 16,513,816UniSTSGRCh37
Build 36316,488,479 - 16,488,820RGDNCBI36
Celera316,452,538 - 16,452,879RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,447,246 - 16,447,587UniSTS
TNG Radiation Hybrid Map39820.0UniSTS
G62938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,440,735 - 16,441,007UniSTSGRCh37
Build 36316,415,739 - 16,416,011RGDNCBI36
Celera316,379,840 - 16,380,112RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,374,273 - 16,374,545UniSTS
TNG Radiation Hybrid Map39791.0UniSTS
SHGC-105736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,460,471 - 16,460,574UniSTSGRCh37
Build 36316,435,475 - 16,435,578RGDNCBI36
Celera316,399,533 - 16,399,636RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,394,225 - 16,394,328UniSTS
SHGC-150983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,522,292 - 16,522,563UniSTSGRCh37
Build 36316,497,296 - 16,497,567RGDNCBI36
Celera316,461,355 - 16,461,626RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,456,063 - 16,456,334UniSTS
TNG Radiation Hybrid Map39825.0UniSTS
TNG Radiation Hybrid Map1060179.0UniSTS
RAFTLIN_9316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,357,326 - 16,358,130UniSTSGRCh37
Build 36316,332,330 - 16,333,134RGDNCBI36
Celera316,296,444 - 16,297,248RGD
HuRef316,290,952 - 16,291,756UniSTS
RH25312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,357,395 - 16,357,529UniSTSGRCh37
Build 36316,332,399 - 16,332,533RGDNCBI36
Celera316,296,513 - 16,296,647RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,291,021 - 16,291,155UniSTS
GeneMap99-GB4 RH Map369.25UniSTS
NCBI RH Map3190.5UniSTS
UniSTS:31995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,366,048 - 16,366,237UniSTSGRCh37
GRCh3710109,383,977 - 109,384,122UniSTSGRCh37
Build 36316,341,052 - 16,341,241RGDNCBI36
Celera316,305,166 - 16,305,355RGD
Celera10103,123,098 - 103,123,243UniSTS
HuRef3165,771,634 - 165,771,780UniSTS
HuRef316,299,674 - 16,299,863UniSTS
HuRef10103,016,425 - 103,016,570UniSTS
D3S3885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,358,078 - 16,358,224UniSTSGRCh37
Build 36316,333,082 - 16,333,228RGDNCBI36
Celera316,297,196 - 16,297,342RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,291,704 - 16,291,850UniSTS
Stanford-G3 RH Map3787.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3184.9UniSTS
GeneMap99-G3 RH Map3787.0UniSTS
RH78558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,424,660 - 16,424,800UniSTSGRCh37
Build 36316,399,664 - 16,399,804RGDNCBI36
Celera316,363,773 - 16,363,913RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,358,232 - 16,358,372UniSTS
GeneMap99-GB4 RH Map368.38UniSTS
SHGC-76751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37316,377,702 - 16,377,869UniSTSGRCh37
Build 36316,352,706 - 16,352,873RGDNCBI36
Celera316,316,820 - 16,316,987RGD
Cytogenetic Map3p24.3UniSTS
HuRef316,311,328 - 16,311,495UniSTS
TNG Radiation Hybrid Map39774.0UniSTS
GeneMap99-GB4 RH Map368.65UniSTS
NCBI RH Map3192.9UniSTS


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 2406 2788 2252 4965 1723 2344 4 622 1951 464 2269 7272 6467 47 3725 1 852 1739 1611 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU138240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY237654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D42043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000334133   ⟹   ENSP00000334153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,315,845 - 16,513,699 (-)Ensembl
Ensembl Acc Id: ENST00000431547   ⟹   ENSP00000393216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,409,473 - 16,514,026 (-)Ensembl
Ensembl Acc Id: ENST00000432519   ⟹   ENSP00000403926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,315,845 - 16,482,865 (-)Ensembl
Ensembl Acc Id: ENST00000441460   ⟹   ENSP00000388718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,378,095 - 16,512,922 (-)Ensembl
Ensembl Acc Id: ENST00000449415   ⟹   ENSP00000409427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,378,095 - 16,512,904 (-)Ensembl
Ensembl Acc Id: ENST00000451036   ⟹   ENSP00000403997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,377,719 - 16,513,374 (-)Ensembl
Ensembl Acc Id: ENST00000453536   ⟹   ENSP00000410493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,409,428 - 16,513,522 (-)Ensembl
Ensembl Acc Id: ENST00000470458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,378,072 - 16,472,599 (-)Ensembl
Ensembl Acc Id: ENST00000483671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,316,530 - 16,370,966 (-)Ensembl
Ensembl Acc Id: ENST00000484752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,378,053 - 16,484,835 (-)Ensembl
Ensembl Acc Id: ENST00000495666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,377,893 - 16,434,770 (-)Ensembl
Ensembl Acc Id: ENST00000607320   ⟹   ENSP00000475367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl316,313,574 - 16,326,867 (-)Ensembl
RefSeq Acc Id: NM_015150   ⟹   NP_055965
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,513,699 (-)NCBI
GRCh37316,357,352 - 16,555,222 (-)RGD
Build 36316,332,356 - 16,530,226 (-)NCBI Archive
Celera316,296,470 - 16,494,283 (-)RGD
HuRef316,290,978 - 16,488,996 (-)ENTREZGENE
CHM1_1316,308,420 - 16,506,893 (-)NCBI
T2T-CHM13v2.0316,317,057 - 16,514,836 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264985   ⟹   XP_005265042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,513,699 (-)NCBI
GRCh37316,357,352 - 16,555,222 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264986   ⟹   XP_005265043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,512,916 (-)NCBI
GRCh37316,357,352 - 16,555,222 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713069   ⟹   XP_006713132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,512,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533530   ⟹   XP_011531832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,513,522 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006007   ⟹   XP_016861496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,513,699 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447779   ⟹   XP_047303735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,472,794 (-)NCBI
RefSeq Acc Id: XM_047447780   ⟹   XP_047303736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,513,522 (-)NCBI
RefSeq Acc Id: XM_047447781   ⟹   XP_047303737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,472,799 (-)NCBI
RefSeq Acc Id: XM_047447783   ⟹   XP_047303739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,315,845 - 16,513,699 (-)NCBI
RefSeq Acc Id: XM_054345823   ⟹   XP_054201798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,473,932 (-)NCBI
RefSeq Acc Id: XM_054345824   ⟹   XP_054201799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,514,836 (-)NCBI
RefSeq Acc Id: XM_054345825   ⟹   XP_054201800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,514,044 (-)NCBI
RefSeq Acc Id: XM_054345826   ⟹   XP_054201801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,514,044 (-)NCBI
RefSeq Acc Id: XM_054345827   ⟹   XP_054201802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,514,347 (-)NCBI
RefSeq Acc Id: XM_054345828   ⟹   XP_054201803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,473,937 (-)NCBI
RefSeq Acc Id: XM_054345829   ⟹   XP_054201804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,514,836 (-)NCBI
RefSeq Acc Id: XM_054345830   ⟹   XP_054201805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0316,317,057 - 16,514,836 (-)NCBI
Protein Sequences
Protein RefSeqs NP_055965 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265042 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265043 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713132 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531832 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861496 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303735 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303736 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303737 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303739 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201805 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06400 (Get FASTA)   NCBI Sequence Viewer  
  AAH14032 (Get FASTA)   NCBI Sequence Viewer  
  AAH32349 (Get FASTA)   NCBI Sequence Viewer  
  AAH51336 (Get FASTA)   NCBI Sequence Viewer  
  AAH69209 (Get FASTA)   NCBI Sequence Viewer  
  AAH98270 (Get FASTA)   NCBI Sequence Viewer  
  AAI00668 (Get FASTA)   NCBI Sequence Viewer  
  AAI00670 (Get FASTA)   NCBI Sequence Viewer  
  AAI21796 (Get FASTA)   NCBI Sequence Viewer  
  AAO91814 (Get FASTA)   NCBI Sequence Viewer  
  BAA07644 (Get FASTA)   NCBI Sequence Viewer  
  BAG62640 (Get FASTA)   NCBI Sequence Viewer  
  BAG64789 (Get FASTA)   NCBI Sequence Viewer  
  EAW64273 (Get FASTA)   NCBI Sequence Viewer  
  EAW64274 (Get FASTA)   NCBI Sequence Viewer  
  EAW64275 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334153
  ENSP00000334153.4
  ENSP00000388718.1
  ENSP00000393216.1
  ENSP00000403926
  ENSP00000403926.1
  ENSP00000403997.1
  ENSP00000409427.1
  ENSP00000410493.1
  ENSP00000475367.1
GenBank Protein Q14699 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055965   ⟸   NM_015150
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   G3XAJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265042   ⟸   XM_005264985
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   G3XAJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265043   ⟸   XM_005264986
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   G3XAJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713132   ⟸   XM_006713069
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   G3XAJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531832   ⟸   XM_011533530
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   G3XAJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861496   ⟸   XM_017006007
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000403997   ⟸   ENST00000451036
Ensembl Acc Id: ENSP00000334153   ⟸   ENST00000334133
Ensembl Acc Id: ENSP00000410493   ⟸   ENST00000453536
Ensembl Acc Id: ENSP00000388718   ⟸   ENST00000441460
Ensembl Acc Id: ENSP00000393216   ⟸   ENST00000431547
Ensembl Acc Id: ENSP00000403926   ⟸   ENST00000432519
Ensembl Acc Id: ENSP00000409427   ⟸   ENST00000449415
Ensembl Acc Id: ENSP00000475367   ⟸   ENST00000607320
RefSeq Acc Id: XP_047303739   ⟸   XM_047447783
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047303736   ⟸   XM_047447780
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047303737   ⟸   XM_047447781
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047303735   ⟸   XM_047447779
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201804   ⟸   XM_054345829
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054201805   ⟸   XM_054345830
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054201799   ⟸   XM_054345824
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201802   ⟸   XM_054345827
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201801   ⟸   XM_054345826
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201800   ⟸   XM_054345825
- Peptide Label: isoform X2
- UniProtKB: Q5JB48 (UniProtKB/Swiss-Prot),   Q4QQI7 (UniProtKB/Swiss-Prot),   Q496Y2 (UniProtKB/Swiss-Prot),   Q14699 (UniProtKB/Swiss-Prot),   Q0D2G0 (UniProtKB/Swiss-Prot),   Q7Z7P2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201803   ⟸   XM_054345828
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054201798   ⟸   XM_054345823
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14699-F1-model_v2 AlphaFold Q14699 1-578 view protein structure

Promoters
RGD ID:6812380
Promoter ID:HG_ACW:53063
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:RFTN1.NAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36316,330,036 - 16,330,536 (-)MPROMDB
RGD ID:6801523
Promoter ID:HG_KWN:43963
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000346910
Position:
Human AssemblyChrPosition (strand)Source
Build 36316,387,216 - 16,388,382 (-)MPROMDB
RGD ID:6863724
Promoter ID:EPDNEW_H5027
Type:multiple initiation site
Name:RFTN1_3
Description:raftlin, lipid raft linker 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5028  EPDNEW_H5029  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,482,862 - 16,482,922EPDNEW
RGD ID:6801527
Promoter ID:HG_KWN:43965
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000347266
Position:
Human AssemblyChrPosition (strand)Source
Build 36316,489,041 - 16,489,687 (-)MPROMDB
RGD ID:6801525
Promoter ID:HG_KWN:43966
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000346909
Position:
Human AssemblyChrPosition (strand)Source
Build 36316,499,246 - 16,500,087 (-)MPROMDB
RGD ID:6801528
Promoter ID:HG_KWN:43967
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000346911
Position:
Human AssemblyChrPosition (strand)Source
Build 36316,500,941 - 16,502,187 (-)MPROMDB
RGD ID:6863726
Promoter ID:EPDNEW_H5028
Type:initiation region
Name:RFTN1_2
Description:raftlin, lipid raft linker 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5027  EPDNEW_H5029  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,513,519 - 16,513,579EPDNEW
RGD ID:6863728
Promoter ID:EPDNEW_H5029
Type:initiation region
Name:RFTN1_1
Description:raftlin, lipid raft linker 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5027  EPDNEW_H5028  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38316,513,699 - 16,513,759EPDNEW
RGD ID:6801526
Promoter ID:HG_KWN:43968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015150,   OTTHUMT00000346912,   OTTHUMT00000346913,   OTTHUMT00000347263,   OTTHUMT00000347264,   OTTHUMT00000347265
Position:
Human AssemblyChrPosition (strand)Source
Build 36316,529,956 - 16,531,532 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30278 AgrOrtholog
COSMIC RFTN1 COSMIC
Ensembl Genes ENSG00000131378 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000334133 ENTREZGENE
  ENST00000334133.9 UniProtKB/Swiss-Prot
  ENST00000431547.1 UniProtKB/TrEMBL
  ENST00000432519 ENTREZGENE
  ENST00000432519.5 UniProtKB/TrEMBL
  ENST00000441460.5 UniProtKB/TrEMBL
  ENST00000449415.5 UniProtKB/TrEMBL
  ENST00000451036.5 UniProtKB/TrEMBL
  ENST00000453536.5 UniProtKB/TrEMBL
  ENST00000607320.5 UniProtKB/TrEMBL
GTEx ENSG00000131378 GTEx
HGNC ID HGNC:30278 ENTREZGENE
Human Proteome Map RFTN1 Human Proteome Map
InterPro Raftlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23180 ENTREZGENE
OMIM 618210 OMIM
PANTHER PTHR17601 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAFTLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Raftlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162401206 PharmGKB
UniProt C9JHG2_HUMAN UniProtKB/TrEMBL
  C9JRN3_HUMAN UniProtKB/TrEMBL
  C9JWQ9_HUMAN UniProtKB/TrEMBL
  F8WAR1_HUMAN UniProtKB/TrEMBL
  G3XAJ6 ENTREZGENE, UniProtKB/TrEMBL
  Q0D2G0 ENTREZGENE
  Q14699 ENTREZGENE
  Q496Y2 ENTREZGENE
  Q4QQI7 ENTREZGENE
  Q5JB48 ENTREZGENE
  Q7Z7P2 ENTREZGENE
  Q8N5I0_HUMAN UniProtKB/TrEMBL
  Q9BRA3_HUMAN UniProtKB/TrEMBL
  RFTN1_HUMAN UniProtKB/Swiss-Prot
  U3KPZ2_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q0D2G0 UniProtKB/Swiss-Prot
  Q496Y2 UniProtKB/Swiss-Prot
  Q4QQI7 UniProtKB/Swiss-Prot
  Q5JB48 UniProtKB/Swiss-Prot
  Q7Z7P2 UniProtKB/Swiss-Prot