RANBP3L (RAN binding protein 3 like) - Rat Genome Database

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Gene: RANBP3L (RAN binding protein 3 like) Homo sapiens
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Symbol: RANBP3L
Name: RAN binding protein 3 like
RGD ID: 1602423
HGNC Page HGNC:26353
Description: Enables SMAD binding activity. Predicted to be involved in several processes, including mesenchymal cell differentiation involved in bone development; negative regulation of osteoblast differentiation; and protein export from nucleus. Predicted to be located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ25422; RAN binding protein 3-like; ran-binding protein 3-like
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
GRCh38536,246,913 - 36,301,902 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl536,246,913 - 36,302,114 (-)EnsemblGRCh38hg38GRCh38
GRCh37536,247,015 - 36,302,004 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36536,284,861 - 36,337,761 (-)NCBINCBI36Build 36hg18NCBI36
Celera536,134,779 - 36,187,682 (-)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef536,200,738 - 36,253,651 (-)NCBIHuRef
CHM1_1536,251,851 - 36,304,761 (-)NCBICHM1_1
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)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
cytoplasm  (IEA)
nucleus  (IEA)

Molecular Function
protein binding  (IPI)
SMAD binding  (IEA,IPI)

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:12477932   PMID:21626137   PMID:21873635   PMID:23151678   PMID:25755279   PMID:26344197   PMID:28514442   PMID:28787260   PMID:29676528   PMID:32296183   PMID:33961781   PMID:34233711  
PMID:34349018   PMID:38942763  


Genomics

Comparative Map Data
RANBP3L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38536,246,913 - 36,301,902 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl536,246,913 - 36,302,114 (-)EnsemblGRCh38hg38GRCh38
GRCh37536,247,015 - 36,302,004 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36536,284,861 - 36,337,761 (-)NCBINCBI36Build 36hg18NCBI36
Celera536,134,779 - 36,187,682 (-)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef536,200,738 - 36,253,651 (-)NCBIHuRef
CHM1_1536,251,851 - 36,304,761 (-)NCBICHM1_1
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBIT2T-CHM13v2.0
Ranbp3l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,997,209 - 9,071,355 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl158,997,433 - 9,067,417 (+)EnsemblGRCm39 Ensembl
GRCm38158,967,949 - 9,067,335 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl158,967,949 - 9,067,335 (+)EnsemblGRCm38mm10GRCm38
MGSCv37158,918,119 - 8,956,192 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv37158,985,428 - 8,997,084 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36158,982,561 - 8,994,217 (+)NCBIMGSCv36mm8
Celera158,812,846 - 8,880,770 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map153.82NCBI
Ranbp3l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8259,785,070 - 59,840,338 (+)NCBIGRCr8
mRatBN7.2258,057,887 - 58,113,158 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl258,058,263 - 58,113,172 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0258,221,773 - 58,458,072 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl258,448,917 - 58,458,517 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0276,758,985 - 76,772,450 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0277,510,913 - 77,544,728 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4258,666,640 - 58,720,647 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1258,590,213 - 58,649,178 (+)NCBI
Celera253,666,881 - 53,721,420 (+)NCBICelera
Cytogenetic Map2q16NCBI
Ranbp3l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542621,052,647 - 21,107,110 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542621,054,463 - 21,106,290 (-)NCBIChiLan1.0ChiLan1.0
RANBP3L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2474,027,847 - 74,081,610 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1572,181,479 - 72,236,614 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0574,061,669 - 74,115,154 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1579,343,218 - 79,396,901 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl579,343,218 - 79,396,121 (+)Ensemblpanpan1.1panPan2
NADK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1472,297,480 - 72,341,176 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl472,297,114 - 72,339,460 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha471,907,202 - 71,950,907 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0472,805,112 - 72,848,811 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl472,804,721 - 72,848,810 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1472,550,564 - 72,594,244 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0472,674,148 - 72,717,850 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0473,207,561 - 73,251,269 (+)NCBIUU_Cfam_GSD_1.0
Ranbp3l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213225,773,116 - 225,840,760 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365185,531,004 - 5,579,942 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365185,531,094 - 5,579,471 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RANBP3L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1621,562,916 - 21,611,885 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11621,562,907 - 21,612,389 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21622,580,457 - 22,607,286 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RANBP3L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1435,095,520 - 35,156,378 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl435,096,196 - 35,155,543 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607125,426,557 - 25,477,496 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ranbp3l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475918,710,586 - 18,771,131 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475918,710,876 - 18,769,727 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RANBP3L
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
NM_001161429.1(RANBP3L):c.475C>T (p.Arg159Ter) single nucleotide variant Malignant melanoma [RCV000066912] Chr5:36265039 [GRCh38]
Chr5:36265141 [GRCh37]
Chr5:36300898 [NCBI36]
Chr5:5p13.2		 not provided
NM_001161429.1(RANBP3L):c.659+24C>G single nucleotide variant Lung cancer [RCV000095901] Chr5:36261915 [GRCh38]
Chr5:36262017 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
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 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 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 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely 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
NM_145000.5(RANBP3L):c.205C>T (p.Pro69Ser) single nucleotide variant not specified [RCV004306433] Chr5:36269453 [GRCh38]
Chr5:36269555 [GRCh37]
Chr5:5p13.2		 likely benign
NM_145000.5(RANBP3L):c.707A>T (p.Asp236Val) single nucleotide variant not specified [RCV004305739] Chr5:36257519 [GRCh38]
Chr5:36257621 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 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 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 5p13.2(chr5:36220337-36278890)x3 copy number gain not provided [RCV000744633] Chr5:36220337..36278890 [GRCh37]
Chr5:5p13.2		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NC_000005.9:g.(?_33944753)_(39364566_?)dup duplication not provided [RCV003107632] Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NM_145000.5(RANBP3L):c.44G>A (p.Ser15Asn) single nucleotide variant not specified [RCV004330247] Chr5:36301373 [GRCh38]
Chr5:36301475 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_145000.5(RANBP3L):c.968C>T (p.Thr323Met) single nucleotide variant not specified [RCV004147431] Chr5:36255526 [GRCh38]
Chr5:36255628 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.52A>G (p.Thr18Ala) single nucleotide variant not specified [RCV004196559] Chr5:36301365 [GRCh38]
Chr5:36301467 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.101T>C (p.Val34Ala) single nucleotide variant not specified [RCV004147553] Chr5:36271302 [GRCh38]
Chr5:36271404 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.619A>G (p.Ser207Gly) single nucleotide variant not specified [RCV004119931] Chr5:36260830 [GRCh38]
Chr5:36260932 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1133T>C (p.Leu378Ser) single nucleotide variant not specified [RCV004114488] Chr5:36253681 [GRCh38]
Chr5:36253783 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1141T>C (p.Tyr381His) single nucleotide variant not specified [RCV004105765] Chr5:36253673 [GRCh38]
Chr5:36253775 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.79C>T (p.Arg27Trp) single nucleotide variant not specified [RCV004236540] Chr5:36301338 [GRCh38]
Chr5:36301440 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1003G>A (p.Gly335Arg) single nucleotide variant not specified [RCV004125096] Chr5:36255491 [GRCh38]
Chr5:36255593 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.34C>G (p.Leu12Val) single nucleotide variant not specified [RCV004130326] Chr5:36301383 [GRCh38]
Chr5:36301485 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.40G>A (p.Gly14Ser) single nucleotide variant not specified [RCV004174712] Chr5:36301377 [GRCh38]
Chr5:36301479 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.538G>A (p.Val180Ile) single nucleotide variant not specified [RCV004134592] Chr5:36261985 [GRCh38]
Chr5:36262087 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1034A>G (p.Asn345Ser) single nucleotide variant not specified [RCV004344002] Chr5:36253780 [GRCh38]
Chr5:36253882 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.115A>G (p.Ile39Val) single nucleotide variant not specified [RCV004341031] Chr5:36271288 [GRCh38]
Chr5:36271390 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1382C>T (p.Ser461Leu) single nucleotide variant not specified [RCV004356135] Chr5:36249670 [GRCh38]
Chr5:36249772 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_145000.5(RANBP3L):c.*1004A>C single nucleotide variant not provided [RCV003664635] Chr5:36248650 [GRCh38]
Chr5:36248752 [GRCh37]
Chr5:5p13.2		 benign
NM_145000.5(RANBP3L):c.601G>A (p.Asp201Asn) single nucleotide variant not specified [RCV004445822] Chr5:36260848 [GRCh38]
Chr5:36260950 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.845G>A (p.Cys282Tyr) single nucleotide variant not specified [RCV004445823] Chr5:36256999 [GRCh38]
Chr5:36257101 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.860T>C (p.Ile287Thr) single nucleotide variant not specified [RCV004445824] Chr5:36256984 [GRCh38]
Chr5:36257086 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.557A>G (p.Gln186Arg) single nucleotide variant not specified [RCV004445821] Chr5:36261966 [GRCh38]
Chr5:36262068 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1314G>C (p.Glu438Asp) single nucleotide variant not specified [RCV004445818] Chr5:36251353 [GRCh38]
Chr5:36251455 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1256A>G (p.Asn419Ser) single nucleotide variant not specified [RCV004445817] Chr5:36251411 [GRCh38]
Chr5:36251513 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1097C>A (p.Ala366Glu) single nucleotide variant not specified [RCV004445815] Chr5:36253717 [GRCh38]
Chr5:36253819 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.995C>T (p.Thr332Ile) single nucleotide variant not specified [RCV004445814] Chr5:36255499 [GRCh38]
Chr5:36255601 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.485C>T (p.Ser162Phe) single nucleotide variant not specified [RCV004445820] Chr5:36262038 [GRCh38]
Chr5:36262140 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.221G>A (p.Arg74Gln) single nucleotide variant not specified [RCV004445819] Chr5:36269437 [GRCh38]
Chr5:36269539 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.220C>T (p.Arg74Trp) single nucleotide variant not specified [RCV004669559] Chr5:36269438 [GRCh38]
Chr5:36269540 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.476A>G (p.Asn159Ser) single nucleotide variant not specified [RCV004860338] Chr5:36264963 [GRCh38]
Chr5:36265065 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.463G>A (p.Glu155Lys) single nucleotide variant not specified [RCV004860339] Chr5:36264976 [GRCh38]
Chr5:36265078 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.1237A>G (p.Asn413Asp) single nucleotide variant not specified [RCV004860337] Chr5:36251430 [GRCh38]
Chr5:36251532 [GRCh37]
Chr5:5p13.2		 likely benign
NM_145000.5(RANBP3L):c.595A>G (p.Asn199Asp) single nucleotide variant not specified [RCV004847208] Chr5:36260854 [GRCh38]
Chr5:36260956 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_145000.5(RANBP3L):c.487G>A (p.Glu163Lys) single nucleotide variant not specified [RCV004847209] Chr5:36262036 [GRCh38]
Chr5:36262138 [GRCh37]
Chr5:5p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:618
Count of miRNA genes:436
Interacting mature miRNAs:468
Transcripts:ENST00000296604, ENST00000502994, ENST00000505865, ENST00000515759
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
597082660GWAS1178734_Htype 2 diabetes mellitus QTL GWAS1178734 (human)3e-09type 2 diabetes mellitus53625691636256917Human

Markers in Region
D5S2085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371191,923,497 - 191,923,668UniSTSGRCh37
GRCh37536,297,394 - 36,297,581UniSTSGRCh37
GRCh37536,297,415 - 36,297,519UniSTSGRCh37
Build 36536,333,151 - 36,333,338RGDNCBI36
Celera536,183,065 - 36,183,252RGD
Celera536,183,086 - 36,183,190UniSTS
Celera1165,032,749 - 165,032,920UniSTS
Cytogenetic Map5p13.2UniSTS
HuRef536,249,031 - 36,249,221UniSTS
HuRef1163,158,791 - 163,158,962UniSTS
HuRef536,249,053 - 36,249,157UniSTS
Marshfield Genetic Map552.55UniSTS
Marshfield Genetic Map552.55RGD
Genethon Genetic Map552.2UniSTS
deCODE Assembly Map557.91UniSTS
Whitehead-YAC Contig Map5 UniSTS
AFM303th5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,283,606 - 36,283,739UniSTSGRCh37
GRCh37536,283,723 - 36,283,882UniSTSGRCh37
Build 36536,319,363 - 36,319,496RGDNCBI36
Celera536,169,397 - 36,169,556UniSTS
Celera536,169,278 - 36,169,413RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,235,354 - 36,235,513UniSTS
HuRef536,235,237 - 36,235,370UniSTS
Whitehead-RH Map5134.1UniSTS
Whitehead-YAC Contig Map5 UniSTS
SHGC-142390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,279,888 - 36,280,198UniSTSGRCh37
Build 36536,315,645 - 36,315,955RGDNCBI36
Celera536,165,559 - 36,165,869RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,231,519 - 36,231,829UniSTS
TNG Radiation Hybrid Map516566.0UniSTS
SHGC-149050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,301,223 - 36,301,554UniSTSGRCh37
Build 36536,336,980 - 36,337,311RGDNCBI36
Celera536,186,894 - 36,187,225RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,252,863 - 36,253,194UniSTS
TNG Radiation Hybrid Map516556.0UniSTS
D5S1750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,296,351 - 36,296,578UniSTSGRCh37
GRCh37536,296,311 - 36,296,423UniSTSGRCh37
Build 36536,332,068 - 36,332,180RGDNCBI36
Celera536,182,022 - 36,182,249UniSTS
Celera536,181,982 - 36,182,094RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,247,948 - 36,248,060UniSTS
HuRef536,247,988 - 36,248,215UniSTS
Whitehead-RH Map5132.3UniSTS
Whitehead-YAC Contig Map5 UniSTS
G20937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37536,295,802 - 36,295,935UniSTSGRCh37
Build 36536,331,559 - 36,331,692RGDNCBI36
Celera536,181,473 - 36,181,606RGD
Cytogenetic Map5p13.2UniSTS
HuRef536,247,439 - 36,247,572UniSTS
AFM303TH5  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.2UniSTS
D5S1750  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.2UniSTS
D5S2085  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.2UniSTS


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
1202 2331 2783 2245 4856 1698 2219 4 604 1234 444 2165 6424 5724 42 3713 1 799 1657 1508 168 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001161429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ774461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296604   ⟹   ENSP00000296604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl536,246,913 - 36,301,902 (-)Ensembl
Ensembl Acc Id: ENST00000502994   ⟹   ENSP00000421853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl536,249,333 - 36,301,900 (-)Ensembl
Ensembl Acc Id: ENST00000505865   ⟹   ENSP00000427147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl536,265,463 - 36,302,114 (-)Ensembl
Ensembl Acc Id: ENST00000515759   ⟹   ENSP00000421149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl536,256,796 - 36,301,900 (-)Ensembl
RefSeq Acc Id: NM_001161429   ⟹   NP_001154901
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
GRCh37536,247,950 - 36,302,011 (-)NCBI
Celera536,134,779 - 36,187,682 (-)RGD
HuRef536,200,738 - 36,253,651 (-)RGD
CHM1_1536,249,768 - 36,304,761 (-)NCBI
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323273   ⟹   NP_001310202
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
CHM1_1536,249,768 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323274   ⟹   NP_001310203
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,250,612 - 36,301,902 (-)NCBI
CHM1_1536,253,461 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,498,918 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323275   ⟹   NP_001310204
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
CHM1_1536,249,768 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323276   ⟹   NP_001310205
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,250,612 - 36,301,902 (-)NCBI
CHM1_1536,253,461 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,498,918 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323277   ⟹   NP_001310206
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,250,612 - 36,301,902 (-)NCBI
CHM1_1536,253,461 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,498,918 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323278   ⟹   NP_001310207
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
CHM1_1536,249,768 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323279   ⟹   NP_001310208
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
CHM1_1536,249,768 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323280   ⟹   NP_001310209
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,250,612 - 36,301,902 (-)NCBI
CHM1_1536,253,461 - 36,304,754 (-)NCBI
T2T-CHM13v2.0536,498,918 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145000   ⟹   NP_659437
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
GRCh37536,247,950 - 36,302,011 (-)NCBI
Build 36536,284,861 - 36,337,761 (-)NCBI Archive
Celera536,134,779 - 36,187,682 (-)RGD
HuRef536,200,738 - 36,253,651 (-)RGD
CHM1_1536,249,768 - 36,304,761 (-)NCBI
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714452   ⟹   XP_006714515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714453   ⟹   XP_006714516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714455   ⟹   XP_006714518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38536,246,913 - 36,301,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351975   ⟹   XP_054207950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
RefSeq Acc Id: XM_054351976   ⟹   XP_054207951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
RefSeq Acc Id: XM_054351977   ⟹   XP_054207952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0536,495,219 - 36,550,209 (-)NCBI
RefSeq Acc Id: NP_659437   ⟸   NM_145000
- Peptide Label: isoform 2
- UniProtKB: E9PGP9 (UniProtKB/Swiss-Prot),   B7Z866 (UniProtKB/Swiss-Prot),   Q96LK2 (UniProtKB/Swiss-Prot),   Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001154901   ⟸   NM_001161429
- Peptide Label: isoform 1
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006714518   ⟸   XM_006714455
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006714516   ⟸   XM_006714453
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006714515   ⟸   XM_006714452
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001310207   ⟸   NM_001323278
- Peptide Label: isoform 8
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310204   ⟸   NM_001323275
- Peptide Label: isoform 5
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310208   ⟸   NM_001323279
- Peptide Label: isoform 9
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310202   ⟸   NM_001323273
- Peptide Label: isoform 3
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310209   ⟸   NM_001323280
- Peptide Label: isoform 10
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310205   ⟸   NM_001323276
- Peptide Label: isoform 6
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310206   ⟸   NM_001323277
- Peptide Label: isoform 7
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310203   ⟸   NM_001323274
- Peptide Label: isoform 4
- UniProtKB: Q86VV4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000421853   ⟸   ENST00000502994
Ensembl Acc Id: ENSP00000427147   ⟸   ENST00000505865
Ensembl Acc Id: ENSP00000296604   ⟸   ENST00000296604
Ensembl Acc Id: ENSP00000421149   ⟸   ENST00000515759
RefSeq Acc Id: XP_054207952   ⟸   XM_054351977
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054207951   ⟸   XM_054351976
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207950   ⟸   XM_054351975
- Peptide Label: isoform X1
Protein Domains
RanBD1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86VV4-F1-model_v2 AlphaFold Q86VV4 1-465 view protein structure

Promoters
RGD ID:6869402
Promoter ID:EPDNEW_H7866
Type:multiple initiation site
Name:RANBP3L_1
Description:RAN binding protein 3 like
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
GRCh38536,301,900 - 36,301,960EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26353 AgrOrtholog
COSMIC RANBP3L COSMIC
Ensembl Genes ENSG00000164188 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296604 ENTREZGENE
  ENST00000296604.8 UniProtKB/Swiss-Prot
  ENST00000502994 ENTREZGENE
  ENST00000502994.5 UniProtKB/Swiss-Prot
  ENST00000505865.1 UniProtKB/TrEMBL
  ENST00000515759.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000164188 GTEx
HGNC ID HGNC:26353 ENTREZGENE
Human Proteome Map RANBP3L Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot
  Ran_bind_dom UniProtKB/Swiss-Prot
  RanBP1-like UniProtKB/Swiss-Prot
KEGG Report hsa:202151 UniProtKB/Swiss-Prot
NCBI Gene 202151 ENTREZGENE
OMIM 616391 OMIM
PANTHER PTHR23138 UniProtKB/Swiss-Prot
  RAN-BINDING PROTEIN 3-LIKE UniProtKB/Swiss-Prot
Pfam Ran_BP1 UniProtKB/Swiss-Prot
PharmGKB PA162400660 PharmGKB
PROSITE RANBD1 UniProtKB/Swiss-Prot
SMART RanBD UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
UniProt B7Z866 ENTREZGENE
  D6RCM9_HUMAN UniProtKB/TrEMBL
  E9PGP9 ENTREZGENE
  Q86VV4 ENTREZGENE
  Q96LK2 ENTREZGENE
  RNB3L_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z866 UniProtKB/Swiss-Prot
  E9PGP9 UniProtKB/Swiss-Prot
  Q96LK2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 RANBP3L  RAN binding protein 3 like    RAN binding protein 3-like  Symbol and/or name change 5135510 APPROVED