MSMB (microseminoprotein beta) - Rat Genome Database

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Gene: MSMB (microseminoprotein beta) Homo sapiens
Analyze
Symbol: MSMB
Name: microseminoprotein beta
RGD ID: 69208
HGNC Page HGNC:7372
Description: Predicted to be located in extracellular space and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-microseminoprotein; HPC13; IGBF; immunoglobulin binding factor; immunoglobulin-binding factor; microseminoprotein, beta; microseminoprotein, beta-; MSP; MSPB; PN44; prostate secreted seminal plasma protein; prostate secretory protein of 94 amino acids; prostatic secretory protein 94; PRPS; PSP; PSP-94; PSP57; PSP94; seminal plasma beta-inhibin
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381046,033,313 - 46,046,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1046,033,307 - 46,048,180 (-)EnsemblGRCh38hg38GRCh38
GRCh371051,549,553 - 51,562,509 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361051,219,559 - 51,232,601 (+)NCBINCBI36Build 36hg18NCBI36
Build 341051,219,558 - 51,232,596NCBI
Celera1042,850,152 - 42,863,194 (+)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1045,657,010 - 45,669,884 (+)NCBIHuRef
CHM1_11051,831,488 - 51,844,455 (+)NCBICHM1_1
T2T-CHM13v2.01046,914,187 - 46,927,144 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1783399   PMID:1930232   PMID:2037304   PMID:2054385   PMID:2322265   PMID:2475560   PMID:2590204   PMID:2758596   PMID:3829888   PMID:3995056   PMID:6434350   PMID:7506990  
PMID:7566962   PMID:7608123   PMID:7671139   PMID:8117114   PMID:8978767   PMID:9774712   PMID:10491085   PMID:10810306   PMID:11788998   PMID:12032598   PMID:12477932   PMID:15344909  
PMID:15489334   PMID:15950934   PMID:16341674   PMID:16930619   PMID:17062675   PMID:17237810   PMID:17493883   PMID:17634540   PMID:18222915   PMID:18264096   PMID:18264097   PMID:18794092  
PMID:19026612   PMID:19081476   PMID:19153072   PMID:19318432   PMID:19342788   PMID:19366831   PMID:19383797   PMID:19407392   PMID:19423541   PMID:19434657   PMID:19549807   PMID:19900942  
PMID:19902474   PMID:19997100   PMID:20139978   PMID:20184897   PMID:20333697   PMID:20424135   PMID:20450899   PMID:20460480   PMID:20564319   PMID:20569440   PMID:20676098   PMID:20676114  
PMID:20680031   PMID:20690139   PMID:20696662   PMID:20717903   PMID:20736317   PMID:20878950   PMID:20967219   PMID:21071540   PMID:21085629   PMID:21160077   PMID:21240253   PMID:21743057  
PMID:21832049   PMID:22496651   PMID:22661295   PMID:22887727   PMID:22993349   PMID:23269536   PMID:23375721   PMID:23555189   PMID:23608167   PMID:24037734   PMID:24115268   PMID:24186202  
PMID:24740154   PMID:24753544   PMID:24981860   PMID:25188517   PMID:25261323   PMID:25416956   PMID:25434496   PMID:26939004   PMID:27161017   PMID:27758987   PMID:28212531   PMID:28930560  
PMID:29250809   PMID:31089709   PMID:31773691   PMID:33122083   PMID:33961781   PMID:35063506   PMID:35559673  


Genomics

Comparative Map Data
MSMB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381046,033,313 - 46,046,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1046,033,307 - 46,048,180 (-)EnsemblGRCh38hg38GRCh38
GRCh371051,549,553 - 51,562,509 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361051,219,559 - 51,232,601 (+)NCBINCBI36Build 36hg18NCBI36
Build 341051,219,558 - 51,232,596NCBI
Celera1042,850,152 - 42,863,194 (+)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1045,657,010 - 45,669,884 (+)NCBIHuRef
CHM1_11051,831,488 - 51,844,455 (+)NCBICHM1_1
T2T-CHM13v2.01046,914,187 - 46,927,144 (-)NCBIT2T-CHM13v2.0
Msmb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391431,863,980 - 31,880,284 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1431,863,980 - 31,880,327 (+)EnsemblGRCm39 Ensembl
GRCm381432,142,023 - 32,158,327 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1432,142,023 - 32,158,370 (+)EnsemblGRCm38mm10GRCm38
MGSCv371432,955,209 - 32,971,513 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361430,971,064 - 30,987,336 (+)NCBIMGSCv36mm8
Celera1428,400,862 - 28,417,156 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.4NCBI
Msmb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8167,372,803 - 7,393,406 (+)NCBIGRCr8
mRatBN7.2167,366,536 - 7,387,124 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl167,366,536 - 7,387,123 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx167,379,294 - 7,399,645 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0168,524,149 - 8,544,500 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0167,377,390 - 7,397,893 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0168,280,275 - 8,300,853 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl168,280,275 - 8,300,852 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0168,197,305 - 8,217,886 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4167,619,432 - 7,640,019 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1167,619,429 - 7,640,016 (+)NCBI
Celera167,811,293 - 7,831,868 (-)NCBICelera
Cytogenetic Map16p16NCBI
MSMB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2858,912,198 - 58,925,192 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11058,917,516 - 58,930,510 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01043,187,155 - 43,200,150 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11046,449,077 - 46,462,065 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1046,449,079 - 46,464,007 (-)Ensemblpanpan1.1panPan2
Msmb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721379,151,913 - 79,171,876 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936728354,769 - 374,696 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSMB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1490,533,103 - 90,582,765 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11490,533,092 - 90,542,309 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21498,575,637 - 98,584,876 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MSMB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1941,796,948 - 41,810,373 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl941,803,922 - 41,810,276 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660481,506,813 - 1,519,452 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in MSMB
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002443.3(MSMB):c.-89T= single nucleotide variant Prostate cancer, hereditary, 13 [RCV000015312] Chr10:46046326 [GRCh38]
Chr10:51549496 [GRCh37]
Chr10:10q11.22		 pathogenic|risk factor
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic|uncertain significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
NM_002443.3(MSMB):c.4-428C>T single nucleotide variant Lung cancer [RCV000109057] Chr10:46040519 [GRCh38]
Chr10:51555303 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23		 likely benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3 copy number gain See cases [RCV000449059] Chr10:49392896..52372011 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3 copy number gain See cases [RCV000512610] Chr10:49381707..52467180 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:51133741-51627470)x1 copy number loss See cases [RCV000512472] Chr10:51133741..51627470 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q11.23(chr10:51367328-51717529)x1 copy number loss not provided [RCV000683225] Chr10:51367328..51717529 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.23(chr10:51367328-51627470)x1 copy number loss not provided [RCV000683216] Chr10:51367328..51627470 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:51461797-51630213)x1 copy number loss not provided [RCV000849756] Chr10:51461797..51630213 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3 copy number gain not provided [RCV000846722] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:51492958-51627446)x1 copy number loss not provided [RCV000848010] Chr10:51492958..51627446 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.23(chr10:51492985-51700837)x3 copy number gain not provided [RCV002472914] Chr10:51492985..51700837 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3 copy number gain not provided [RCV001537904] Chr10:48301535..51807296 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23		 not provided
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.23(chr10:51367328-51641805)x3 copy number gain not provided [RCV001260095] Chr10:51367328..51641805 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.49033586_52417694del deletion Megacolon [RCV001290060] Chr10:49033586..52417694 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.23(chr10:51479639-51655756)x1 copy number loss not provided [RCV001832938] Chr10:51479639..51655756 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1 copy number loss See cases [RCV002286348] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic|uncertain significance
GRCh37/hg19 10q11.23(chr10:51389990-51606628)x3 copy number gain not provided [RCV002474737] Chr10:51389990..51606628 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_002443.4(MSMB):c.227C>T (p.Pro76Leu) single nucleotide variant not specified [RCV004096843] Chr10:46033540 [GRCh38]
Chr10:51562282 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_002443.4(MSMB):c.80A>G (p.Asn27Ser) single nucleotide variant not specified [RCV004076543] Chr10:46040015 [GRCh38]
Chr10:51555807 [GRCh37]
Chr10:10q11.22		 uncertain significance
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3 copy number gain not provided [RCV003484799] Chr10:48349961..51817663 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NC_000010.10:g.(?_49383876)_(52383915_?)del deletion Cockayne syndrome type 2 [RCV003885341] Chr10:49383876..52383915 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_002443.4(MSMB):c.296A>G (p.Glu99Gly) single nucleotide variant not specified [RCV004498838] Chr10:46033471 [GRCh38]
Chr10:51562351 [GRCh37]
Chr10:10q11.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1023
Count of miRNA genes:516
Interacting mature miRNAs:575
Transcripts:ENST00000298239, ENST00000358559, ENST00000466268, ENST00000474170, ENST00000478719, ENST00000487536
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
MSMB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371051,562,247 - 51,562,428UniSTSGRCh37
Build 361051,232,253 - 51,232,434RGDNCBI36
Celera1042,862,846 - 42,863,027RGD
HuRef1045,669,614 - 45,669,795UniSTS
STS-X57928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371051,549,483 - 51,549,676UniSTSGRCh37
Build 361051,219,489 - 51,219,682RGDNCBI36
Celera1042,850,082 - 42,850,275RGD
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map10q11.23UniSTS
HuRef1045,656,940 - 45,657,133UniSTS
GeneMap99-GB4 RH Map10273.55UniSTS
SGC35292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371051,562,398 - 51,562,530UniSTSGRCh37
Build 361051,232,404 - 51,232,536RGDNCBI36
Celera1042,862,997 - 42,863,129RGD
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map10q11.23UniSTS
HuRef1045,669,765 - 45,669,897UniSTS
GeneMap99-GB4 RH Map10277.03UniSTS
Whitehead-RH Map10318.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2 1 194 3
Medium 198 12 4 107 1 1055 11 9 4 219 130 106 13 596
Low 506 380 465 145 193 91 688 304 476 33 444 529 60 202 397 2
Below cutoff 813 948 561 138 484 141 853 770 1154 68 160 326 1 394 589 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF680662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM856408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM265191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM265192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000581478   ⟹   ENSP00000462641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,033,307 - 46,046,269 (-)Ensembl
RefSeq Acc Id: ENST00000582163   ⟹   ENSP00000463092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,033,313 - 46,046,269 (-)Ensembl
RefSeq Acc Id: ENST00000663171   ⟹   ENSP00000499419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1046,033,313 - 46,048,180 (-)Ensembl
RefSeq Acc Id: NM_002443   ⟹   NP_002434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,033,313 - 46,046,269 (-)NCBI
GRCh371051,549,553 - 51,562,517 (+)ENTREZGENE
Build 361051,219,559 - 51,232,601 (+)NCBI Archive
HuRef1045,657,010 - 45,669,884 (+)ENTREZGENE
CHM1_11051,831,488 - 51,844,455 (+)NCBI
T2T-CHM13v2.01046,914,187 - 46,927,144 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138634   ⟹   NP_619540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,033,313 - 46,046,269 (-)NCBI
GRCh371051,549,553 - 51,562,517 (+)ENTREZGENE
Build 361051,219,559 - 51,232,601 (+)NCBI Archive
HuRef1045,657,010 - 45,669,884 (+)ENTREZGENE
CHM1_11051,831,488 - 51,844,455 (+)NCBI
T2T-CHM13v2.01046,914,187 - 46,927,144 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_002434   ⟸   NM_002443
- Peptide Label: isoform a precursor
- UniProtKB: Q6IAY9 (UniProtKB/Swiss-Prot),   Q13125 (UniProtKB/Swiss-Prot),   P11999 (UniProtKB/Swiss-Prot),   B1API6 (UniProtKB/Swiss-Prot),   Q9UC59 (UniProtKB/Swiss-Prot),   P08118 (UniProtKB/Swiss-Prot),   B2R597 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_619540   ⟸   NM_138634
- Peptide Label: isoform b precursor
- UniProtKB: P08118 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000462641   ⟸   ENST00000581478
RefSeq Acc Id: ENSP00000463092   ⟸   ENST00000582163
RefSeq Acc Id: ENSP00000499419   ⟸   ENST00000663171

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08118-F1-model_v2 AlphaFold P08118 1-114 view protein structure

Promoters
RGD ID:7217447
Promoter ID:EPDNEW_H14469
Type:multiple initiation site
Name:MSMB_1
Description:microseminoprotein beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14470  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381046,046,269 - 46,046,329EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7372 AgrOrtholog
COSMIC MSMB COSMIC
Ensembl Genes ENSG00000263639 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000581478 ENTREZGENE
  ENST00000581478.5 UniProtKB/Swiss-Prot
  ENST00000582163 ENTREZGENE
  ENST00000582163.3 UniProtKB/Swiss-Prot
  ENST00000663171.1 UniProtKB/TrEMBL
Gene3D-CATH 2.20.25.590 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000263639 GTEx
HGNC ID HGNC:7372 ENTREZGENE
Human Proteome Map MSMB Human Proteome Map
InterPro PSP94 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4477 UniProtKB/Swiss-Prot
NCBI Gene 4477 ENTREZGENE
OMIM 157145 OMIM
PANTHER BETA-MICROSEMINOPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10500 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PSP94 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31177 PharmGKB
UniProt A0A590UJG9_HUMAN UniProtKB/TrEMBL
  B1API6 ENTREZGENE
  B2R597 ENTREZGENE, UniProtKB/TrEMBL
  MSMB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P11999 ENTREZGENE
  Q13125 ENTREZGENE
  Q6IAY9 ENTREZGENE
  Q9UC59 ENTREZGENE
UniProt Secondary B1API6 UniProtKB/Swiss-Prot
  P11999 UniProtKB/Swiss-Prot
  Q13125 UniProtKB/Swiss-Prot
  Q6IAY9 UniProtKB/Swiss-Prot
  Q9UC59 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-05 MSMB  microseminoprotein beta  MSMB  microseminoprotein, beta-  Symbol and/or name change 5135510 APPROVED