RBM45 (RNA binding motif protein 45) - Rat Genome Database

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Gene: RBM45 (RNA binding motif protein 45) Homo sapiens
Analyze
Symbol: RBM45
Name: RNA binding motif protein 45
RGD ID: 730942
HGNC Page HGNC:24468
Description: Enables RNA binding activity and identical protein binding activity. Predicted to be involved in nervous system development. Located in cytoplasm and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: developmentally regulated RNA-binding protein 1; developmentally-regulated RNA-binding protein 1; DRB1; FLJ44612; MGC42237; putative RNA binding protein RB-1; RB-1; RNA-binding motif protein 45; RNA-binding protein 45
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100420215  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382178,112,437 - 178,139,011 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2178,112,424 - 178,139,011 (+)EnsemblGRCh38hg38GRCh38
GRCh372178,977,164 - 178,994,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362178,685,428 - 178,702,629 (+)NCBINCBI36Build 36hg18NCBI36
Build 342178,802,657 - 178,819,887NCBI
Celera2172,580,082 - 172,597,283 (+)NCBICelera
Cytogenetic Map2q31.2NCBI
HuRef2170,847,670 - 170,864,858 (+)NCBIHuRef
CHM1_12178,983,291 - 179,000,485 (+)NCBICHM1_1
T2T-CHM13v2.02178,595,169 - 178,612,405 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)
ribonucleoprotein complex  (IBA)

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:12220514   PMID:12477932   PMID:15489334   PMID:17207965   PMID:18029348   PMID:19615732   PMID:20467437   PMID:21145461   PMID:21653829   PMID:21841780   PMID:21873635   PMID:22658674  
PMID:22681889   PMID:22993125   PMID:24825905   PMID:25416956   PMID:25939382   PMID:26186194   PMID:26391765   PMID:26496610   PMID:26979993   PMID:27226551   PMID:28431233   PMID:28514442  
PMID:29140459   PMID:29509190   PMID:29656893   PMID:29884807   PMID:31091453   PMID:32156816   PMID:32296183   PMID:32814053   PMID:32994395   PMID:33577684   PMID:33961781   PMID:34118419  
PMID:36244648   PMID:36435031   PMID:37794589   PMID:38040804   PMID:38697112  


Genomics

Comparative Map Data
RBM45
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382178,112,437 - 178,139,011 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2178,112,424 - 178,139,011 (+)EnsemblGRCh38hg38GRCh38
GRCh372178,977,164 - 178,994,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362178,685,428 - 178,702,629 (+)NCBINCBI36Build 36hg18NCBI36
Build 342178,802,657 - 178,819,887NCBI
Celera2172,580,082 - 172,597,283 (+)NCBICelera
Cytogenetic Map2q31.2NCBI
HuRef2170,847,670 - 170,864,858 (+)NCBIHuRef
CHM1_12178,983,291 - 179,000,485 (+)NCBICHM1_1
T2T-CHM13v2.02178,595,169 - 178,612,405 (+)NCBIT2T-CHM13v2.0
Rbm45
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39276,200,304 - 76,214,112 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl276,200,328 - 76,214,112 (+)EnsemblGRCm39 Ensembl
GRCm38276,369,959 - 76,383,768 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl276,369,984 - 76,383,768 (+)EnsemblGRCm38mm10GRCm38
MGSCv37276,208,041 - 76,221,825 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36276,170,907 - 76,184,555 (+)NCBIMGSCv36mm8
Celera278,035,769 - 78,049,840 (+)NCBICelera
Cytogenetic Map2C3NCBI
cM Map244.94NCBI
Rbm45
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8381,713,214 - 81,728,190 (+)NCBIGRCr8
mRatBN7.2361,305,973 - 61,320,950 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl361,305,924 - 61,320,952 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx364,666,310 - 64,681,282 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0373,249,964 - 73,264,936 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0371,017,083 - 71,032,005 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0363,220,660 - 63,235,638 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl363,220,647 - 63,235,648 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0369,794,037 - 69,809,015 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4359,058,686 - 59,073,662 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1358,955,057 - 58,970,034 (+)NCBI
Celera360,793,954 - 60,808,930 (+)NCBICelera
Cytogenetic Map3q24NCBI
RBM45
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21380,760,404 - 80,775,297 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B80,775,370 - 80,790,271 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B65,372,463 - 65,386,211 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B183,078,303 - 183,095,479 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B183,078,303 - 183,095,479 (+)Ensemblpanpan1.1panPan2
RBM45
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13621,749,351 - 21,767,742 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3621,749,346 - 21,767,938 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3621,768,482 - 21,790,783 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03621,893,038 - 21,915,335 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3621,893,032 - 21,910,497 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13622,002,284 - 22,024,604 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03621,965,690 - 21,988,186 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03622,080,957 - 22,099,946 (+)NCBIUU_Cfam_GSD_1.0
Rbm45
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303138,805,596 - 138,835,304 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365097,359,468 - 7,377,458 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365097,359,511 - 7,376,994 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBM45
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1583,792,861 - 83,824,556 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11583,792,849 - 83,810,337 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21593,330,076 - 93,352,111 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RBM45
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11063,656,295 - 63,674,773 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1063,656,337 - 63,675,540 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040135,888,154 - 135,912,977 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in RBM45
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1		 pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1		 pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1		 pathogenic
NM_152945.3(RBM45):c.998T>G (p.Met333Arg) single nucleotide variant Malignant melanoma [RCV000065213] Chr2:178123842 [GRCh38]
Chr2:178988569 [GRCh37]
Chr2:178696815 [NCBI36]
Chr2:2q31.2		 not provided
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3		 pathogenic
GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 copy number loss See cases [RCV000143597] Chr2:174236451..181188846 [GRCh38]
Chr2:175101179..182053573 [GRCh37]
Chr2:174809425..181761818 [NCBI36]
Chr2:2q31.1-31.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152945.4(RBM45):c.1151C>G (p.Ala384Gly) single nucleotide variant not specified [RCV004300924] Chr2:178124209 [GRCh38]
Chr2:178988936 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.944T>C (p.Ile315Thr) single nucleotide variant not specified [RCV004312768] Chr2:178123612 [GRCh38]
Chr2:178988339 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.1337A>G (p.His446Arg) single nucleotide variant not specified [RCV004309606] Chr2:178126088 [GRCh38]
Chr2:178990815 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.2(chr2:178546905-179656720)x3 copy number gain not provided [RCV000682116] Chr2:178546905..179656720 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2		 pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 copy number loss not provided [RCV000740710] Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_152945.4(RBM45):c.903A>G (p.Lys301=) single nucleotide variant not provided [RCV000972384] Chr2:178123571 [GRCh38]
Chr2:178988298 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1 copy number loss not provided [RCV000849015] Chr2:176310551..179092634 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 copy number loss not provided [RCV000846537] Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_152945.4(RBM45):c.924G>A (p.Gln308=) single nucleotide variant not provided [RCV000958591] Chr2:178123592 [GRCh38]
Chr2:178988319 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_152945.4(RBM45):c.892A>T (p.Ile298Phe) single nucleotide variant not specified [RCV004205704] Chr2:178123560 [GRCh38]
Chr2:178988287 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3		 pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:177542722-179538238)x3 copy number gain not provided [RCV001258562] Chr2:177542722..179538238 [GRCh37]
Chr2:2q31.1-31.2		 uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger osseus syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NC_000002.11:g.(?_178095513)_(179914668_?)del deletion not provided [RCV003113300] Chr2:178095513..179914668 [GRCh37]
Chr2:2q31.2		 uncertain significance
NC_000002.11:g.(?_178095513)_(179914668_?)dup duplication not provided [RCV003116536] Chr2:178095513..179914668 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 copy number loss not provided [RCV002474570] Chr2:175143352..180999636 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_152945.4(RBM45):c.932C>T (p.Pro311Leu) single nucleotide variant not specified [RCV004243601] Chr2:178123600 [GRCh38]
Chr2:178988327 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.801A>G (p.Ile267Met) single nucleotide variant not specified [RCV004124950] Chr2:178121307 [GRCh38]
Chr2:178986034 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.29G>T (p.Gly10Val) single nucleotide variant not specified [RCV004206077] Chr2:178112575 [GRCh38]
Chr2:178977302 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.1041G>C (p.Trp347Cys) single nucleotide variant not specified [RCV004090548] Chr2:178123885 [GRCh38]
Chr2:178988612 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.548G>A (p.Arg183Gln) single nucleotide variant not specified [RCV004257246] Chr2:178118179 [GRCh38]
Chr2:178982906 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.281A>C (p.Asn94Thr) single nucleotide variant not specified [RCV004441335] Chr2:178112827 [GRCh38]
Chr2:178977554 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.945A>G (p.Ile315Met) single nucleotide variant not specified [RCV004441337] Chr2:178123613 [GRCh38]
Chr2:178988340 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.739C>T (p.Arg247Cys) single nucleotide variant not specified [RCV004441336] Chr2:178121245 [GRCh38]
Chr2:178985972 [GRCh37]
Chr2:2q31.2		 uncertain significance
NC_000002.11:g.(?_178257518)_(179914668_?)del deletion not provided [RCV004583757] Chr2:178257518..179914668 [GRCh37]
Chr2:2q31.2		 pathogenic
NM_152945.4(RBM45):c.206C>G (p.Ala69Gly) single nucleotide variant not specified [RCV004660863] Chr2:178112752 [GRCh38]
Chr2:178977479 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_152945.4(RBM45):c.1227A>G (p.Ile409Met) single nucleotide variant not specified [RCV004660864] Chr2:178124285 [GRCh38]
Chr2:178989012 [GRCh37]
Chr2:2q31.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1198
Count of miRNA genes:641
Interacting mature miRNAs:724
Transcripts:ENST00000286070, ENST00000424000, ENST00000424099, ENST00000455903, ENST00000464647, ENST00000493048
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
407011792GWAS660768_Hrefractive error QTL GWAS660768 (human)6e-10refractive error2178128602178128603Human

Markers in Region
SHGC-32837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,990,747 - 178,990,872UniSTSGRCh37
Build 362178,698,993 - 178,699,118RGDNCBI36
Celera2172,593,647 - 172,593,772RGD
Cytogenetic Map2q31.2UniSTS
HuRef2170,861,222 - 170,861,347UniSTS
GeneMap99-GB4 RH Map2574.97UniSTS
Whitehead-RH Map2875.5UniSTS
GeneMap99-G3 RH Map28264.0UniSTS
HSC2RB112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,994,156 - 178,994,356UniSTSGRCh37
Build 362178,702,402 - 178,702,602RGDNCBI36
Celera2172,597,056 - 172,597,256RGD
Cytogenetic Map2q31.2UniSTS
HuRef2170,864,631 - 170,864,831UniSTS
GeneMap99-GB4 RH Map2566.57UniSTS
Whitehead-RH Map2878.1UniSTS
WI-15842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,991,338 - 178,991,462UniSTSGRCh37
Build 362178,699,584 - 178,699,708RGDNCBI36
Celera2172,594,238 - 172,594,362RGD
Cytogenetic Map2q31.2UniSTS
HuRef2170,861,813 - 170,861,937UniSTS
GeneMap99-GB4 RH Map2575.44UniSTS
Whitehead-RH Map2882.6UniSTS
NCBI RH Map21442.5UniSTS
EST-CFZ97826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,988,596 - 178,988,951UniSTSGRCh37
Build 362178,696,842 - 178,697,197RGDNCBI36
Celera2172,591,496 - 172,591,851RGD
HuRef2170,859,071 - 170,859,426UniSTS


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 2439 2788 2253 4973 1726 2351 5 624 1951 465 2269 7304 6470 53 3734 1 852 1744 1617 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001365578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB036991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF526533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI763677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000286070   ⟹   ENSP00000286070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,112,437 - 178,129,656 (+)Ensembl
Ensembl Acc Id: ENST00000424000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,112,424 - 178,129,656 (+)Ensembl
Ensembl Acc Id: ENST00000424099   ⟹   ENSP00000389134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,125,725 - 178,129,656 (+)Ensembl
Ensembl Acc Id: ENST00000455903   ⟹   ENSP00000415940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,123,863 - 178,139,011 (+)Ensembl
Ensembl Acc Id: ENST00000464647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,126,139 - 178,136,776 (+)Ensembl
Ensembl Acc Id: ENST00000493048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,121,004 - 178,124,290 (+)Ensembl
Ensembl Acc Id: ENST00000616198   ⟹   ENSP00000482083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2178,112,455 - 178,129,653 (+)Ensembl
RefSeq Acc Id: NM_001365578   ⟹   NP_001352507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,129,656 (+)NCBI
T2T-CHM13v2.02178,595,195 - 178,612,405 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365579   ⟹   NP_001352508
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,129,656 (+)NCBI
T2T-CHM13v2.02178,595,195 - 178,612,405 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152945   ⟹   NP_694453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,129,656 (+)NCBI
GRCh372178,977,149 - 178,994,383 (+)NCBI
Build 362178,685,428 - 178,702,629 (+)NCBI Archive
Celera2172,580,082 - 172,597,283 (+)RGD
HuRef2170,847,670 - 170,864,858 (+)RGD
CHM1_12178,983,260 - 179,000,485 (+)NCBI
T2T-CHM13v2.02178,595,195 - 178,612,405 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003320   ⟹   XP_016858809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,129,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003321   ⟹   XP_016858810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,129,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443321   ⟹   XP_047299277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,139,011 (+)NCBI
RefSeq Acc Id: XM_047443322   ⟹   XP_047299278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,139,011 (+)NCBI
RefSeq Acc Id: XM_047443323   ⟹   XP_047299279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,139,011 (+)NCBI
RefSeq Acc Id: XM_047443324   ⟹   XP_047299280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,139,011 (+)NCBI
RefSeq Acc Id: XM_054340492   ⟹   XP_054196467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02178,595,169 - 178,612,405 (+)NCBI
RefSeq Acc Id: XM_054340493   ⟹   XP_054196468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02178,595,169 - 178,612,405 (+)NCBI
RefSeq Acc Id: XR_007069526
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,139,011 (+)NCBI
RefSeq Acc Id: XR_007069527
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,437 - 178,139,011 (+)NCBI
RefSeq Acc Id: NP_694453   ⟸   NM_152945
- Peptide Label: isoform 1
- UniProtKB: Q8IUH3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016858810   ⟸   XM_017003321
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016858809   ⟸   XM_017003320
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001352508   ⟸   NM_001365579
- Peptide Label: isoform 2
- UniProtKB: Q8IUH3 (UniProtKB/Swiss-Prot),   Q6NYL0 (UniProtKB/Swiss-Prot),   Q8NFC9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001352507   ⟸   NM_001365578
- Peptide Label: isoform 1
Ensembl Acc Id: ENSP00000389134   ⟸   ENST00000424099
Ensembl Acc Id: ENSP00000415940   ⟸   ENST00000455903
Ensembl Acc Id: ENSP00000286070   ⟸   ENST00000286070
Ensembl Acc Id: ENSP00000482083   ⟸   ENST00000616198
RefSeq Acc Id: XP_047299278   ⟸   XM_047443322
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047299277   ⟸   XM_047443321
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047299279   ⟸   XM_047443323
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047299280   ⟸   XM_047443324
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054196468   ⟸   XM_054340493
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196467   ⟸   XM_054340492
- Peptide Label: isoform X1
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IUH3-F1-model_v2 AlphaFold Q8IUH3 1-476 view protein structure

Promoters
RGD ID:6862166
Promoter ID:EPDNEW_H4248
Type:initiation region
Name:RBM45_1
Description:RNA binding motif protein 45
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382178,112,439 - 178,112,499EPDNEW
RGD ID:6798063
Promoter ID:HG_KWN:36112
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000334375,   OTTHUMT00000334376
Position:
Human AssemblyChrPosition (strand)Source
Build 362178,685,239 - 178,685,739 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24468 AgrOrtholog
COSMIC RBM45 COSMIC
Ensembl Genes ENSG00000155636 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000286070 ENTREZGENE
  ENST00000286070.10 UniProtKB/Swiss-Prot
  ENST00000424099.1 UniProtKB/TrEMBL
  ENST00000455903.6 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155636 GTEx
HGNC ID HGNC:24468 ENTREZGENE
Human Proteome Map RBM45 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM45_RRM1 UniProtKB/Swiss-Prot
  RBM45_RRM2 UniProtKB/Swiss-Prot
  RBM45_RRM3 UniProtKB/Swiss-Prot
  RBM45_RRM4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:129831 UniProtKB/Swiss-Prot
NCBI Gene 129831 ENTREZGENE
OMIM 608888 OMIM
PANTHER EUKARYOTIC TRANSLATION INITIATION FACTOR 3 SUBUNIT G UniProtKB/Swiss-Prot
  RNA-BINDING MOTIF PROTEIN 45 UniProtKB/Swiss-Prot
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162400809 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7BZE0_HUMAN UniProtKB/TrEMBL
  H7C476_HUMAN UniProtKB/TrEMBL
  Q6NYL0 ENTREZGENE
  Q8IUH3 ENTREZGENE
  Q8NFC9 ENTREZGENE
  RBM45_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6NYL0 UniProtKB/Swiss-Prot
  Q8NFC9 UniProtKB/Swiss-Prot