KIF5B (kinesin family member 5B) - Rat Genome Database

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Pathways
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Gene: KIF5B (kinesin family member 5B) Homo sapiens
Analyze
Symbol: KIF5B
Name: kinesin family member 5B
RGD ID: 1344841
HGNC Page HGNC:6324
Description: Enables identical protein binding activity; microtubule binding activity; and microtubule motor activity. Involved in several processes, including natural killer cell mediated cytotoxicity; positive regulation of protein localization to plasma membrane; and vesicle transport along microtubule. Located in centriolar satellite; cytosol; and vesicle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: conventional kinesin heavy chain; epididymis secretory protein Li 61; HEL-S-61; kinesin 1 (110-120kD); kinesin heavy chain; kinesin-1 heavy chain; KINH; KNS; KNS1; ubiquitous kinesin heavy chain; UKHC
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
GRCh381032,009,015 - 32,056,425 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1032,009,015 - 32,056,425 (-)EnsemblGRCh38hg38GRCh38
GRCh371032,297,943 - 32,345,353 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361032,340,077 - 32,385,221 (-)NCBINCBI36Build 36hg18NCBI36
Build 341032,340,076 - 32,385,221NCBI
Celera1032,062,826 - 32,110,627 (-)NCBICelera
Cytogenetic Map10p11.22NCBI
HuRef1032,018,111 - 32,065,919 (-)NCBIHuRef
CHM1_11032,299,660 - 32,347,071 (-)NCBICHM1_1
T2T-CHM13v2.01032,037,647 - 32,085,426 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Diabetes alters KIF1A and KIF5B motor proteins in the hippocampus. Baptista FI, etal., PLoS One. 2013 Jun 12;8(6):e65515. doi: 10.1371/journal.pone.0065515. Print 2013.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Regulation of mitochondrial transport in neurons. Lin MY and Sheng ZH, Exp Cell Res. 2015 May 15;334(1):35-44. doi: 10.1016/j.yexcr.2015.01.004. Epub 2015 Jan 19.
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Rho GTPases in insulin-stimulated glucose uptake. Satoh T Small GTPases. 2014;5:e28102. doi: 10.4161/sgtp.28102. Epub 2014 Mar 10.
Additional References at PubMed
PMID:1607388   PMID:7514426   PMID:8606779   PMID:9624122   PMID:9657148   PMID:10491391   PMID:10913441   PMID:10964943   PMID:11553612   PMID:11969417   PMID:11986669   PMID:12191989  
PMID:12475239   PMID:12477932   PMID:14600269   PMID:14744259   PMID:15161933   PMID:15164054   PMID:15184079   PMID:15324660   PMID:15342556   PMID:15459722   PMID:15489334   PMID:15644324  
PMID:15778465   PMID:15905402   PMID:16157705   PMID:16260607   PMID:16385451   PMID:16498388   PMID:16760430   PMID:17013387   PMID:17043677   PMID:17110338   PMID:17220478   PMID:17353931  
PMID:17394562   PMID:17643375   PMID:17887960   PMID:17925227   PMID:17979178   PMID:18004302   PMID:18514191   PMID:18579780   PMID:18817524   PMID:18984674   PMID:19164528   PMID:19242560  
PMID:19305391   PMID:19348763   PMID:19615732   PMID:19675065   PMID:19765186   PMID:19773350   PMID:19913510   PMID:19946888   PMID:20071331   PMID:20386726   PMID:20562859   PMID:20682791  
PMID:20936779   PMID:21349835   PMID:21528130   PMID:21656749   PMID:21873635   PMID:21900206   PMID:21910419   PMID:21915095   PMID:21925109   PMID:22172677   PMID:22198464   PMID:22327624  
PMID:22404429   PMID:22514732   PMID:22586326   PMID:22863883   PMID:22939629   PMID:23092984   PMID:23125841   PMID:23378251   PMID:23443559   PMID:23884313   PMID:24072715   PMID:24088571  
PMID:24399297   PMID:24457600   PMID:24711643   PMID:24821626   PMID:25047660   PMID:25147182   PMID:25231297   PMID:25266655   PMID:25281560   PMID:25324306   PMID:25348260   PMID:25378581  
PMID:25416956   PMID:25450690   PMID:25468996   PMID:25516977   PMID:25537000   PMID:25609649   PMID:25659154   PMID:25660542   PMID:25665578   PMID:25676575   PMID:25818289   PMID:25855459  
PMID:25902401   PMID:25921289   PMID:26186194   PMID:26209609   PMID:26268359   PMID:26344197   PMID:26496610   PMID:26598607   PMID:26627252   PMID:26831064   PMID:26839216   PMID:26972000  
PMID:26991731   PMID:27327622   PMID:27684187   PMID:27788242   PMID:27851960   PMID:28284467   PMID:28302907   PMID:28426968   PMID:28504639   PMID:28514442   PMID:28515276   PMID:28668932  
PMID:28685749   PMID:28718761   PMID:28877471   PMID:28911147   PMID:28930676   PMID:29117863   PMID:29128334   PMID:29229862   PMID:29445114   PMID:29459360   PMID:29467282   PMID:29507755  
PMID:29509190   PMID:29845934   PMID:29955894   PMID:30015159   PMID:30021884   PMID:30058692   PMID:30224337   PMID:30297389   PMID:30573850   PMID:30591488   PMID:30659120   PMID:30711629  
PMID:30948266   PMID:31073040   PMID:31091453   PMID:31204277   PMID:31239290   PMID:31519766   PMID:31586073   PMID:31732153   PMID:31740721   PMID:31961321   PMID:32129710   PMID:32296183  
PMID:32561740   PMID:32687490   PMID:32707033   PMID:32786267   PMID:32807901   PMID:32838362   PMID:32972035   PMID:33022573   PMID:33080218   PMID:33111431   PMID:33200553   PMID:33397691  
PMID:33561610   PMID:33742100   PMID:33762435   PMID:33916271   PMID:33961781   PMID:34316702   PMID:34432492   PMID:34482333   PMID:34728620   PMID:34795231   PMID:34882091   PMID:34883065  
PMID:35050657   PMID:35102251   PMID:35256949   PMID:35271311   PMID:35342932   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35545047   PMID:35563538   PMID:35649356  
PMID:35687106   PMID:35696571   PMID:35829703   PMID:35831314   PMID:35944360   PMID:36002889   PMID:36018820   PMID:36114006   PMID:36168627   PMID:36215168   PMID:36244648   PMID:36261009  
PMID:36376293   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36597993   PMID:36634849   PMID:36717601   PMID:36931259   PMID:37120454   PMID:37232246   PMID:37536630   PMID:37774976  
PMID:37827155   PMID:37934770   PMID:38113892   PMID:38280479  


Genomics

Comparative Map Data
KIF5B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381032,009,015 - 32,056,425 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1032,009,015 - 32,056,425 (-)EnsemblGRCh38hg38GRCh38
GRCh371032,297,943 - 32,345,353 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361032,340,077 - 32,385,221 (-)NCBINCBI36Build 36hg18NCBI36
Build 341032,340,076 - 32,385,221NCBI
Celera1032,062,826 - 32,110,627 (-)NCBICelera
Cytogenetic Map10p11.22NCBI
HuRef1032,018,111 - 32,065,919 (-)NCBIHuRef
CHM1_11032,299,660 - 32,347,071 (-)NCBICHM1_1
T2T-CHM13v2.01032,037,647 - 32,085,426 (-)NCBIT2T-CHM13v2.0
Kif5b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39186,201,005 - 6,241,524 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl186,201,002 - 6,242,174 (-)EnsemblGRCm39 Ensembl
GRCm38186,201,005 - 6,241,524 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl186,201,002 - 6,242,174 (-)EnsemblGRCm38mm10GRCm38
MGSCv37186,201,003 - 6,241,522 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36186,202,209 - 6,241,498 (-)NCBIMGSCv36mm8
Celera186,247,889 - 6,288,660 (-)NCBICelera
Cytogenetic Map18A1NCBI
cM Map184.46NCBI
Kif5b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81756,185,386 - 56,222,990 (+)NCBIGRCr8
mRatBN7.21751,489,904 - 51,527,508 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1751,489,944 - 51,527,508 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1754,663,892 - 54,694,120 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01758,666,828 - 58,697,056 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01752,804,979 - 52,835,181 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01754,181,416 - 54,219,048 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1754,181,419 - 54,212,096 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01751,875,803 - 51,913,435 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41759,697,082 - 59,727,314 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11759,728,937 - 59,735,497 (+)NCBI
Celera1747,501,097 - 47,531,289 (+)NCBICelera
Cytogenetic Map17q12.1NCBI
Kif5b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542923,631,282 - 23,678,562 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542923,632,246 - 23,678,797 (-)NCBIChiLan1.0ChiLan1.0
KIF5B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2844,659,162 - 44,706,677 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11044,664,488 - 44,712,585 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01032,138,964 - 32,186,448 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11032,731,150 - 32,778,242 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1032,731,150 - 32,778,242 (-)Ensemblpanpan1.1panPan2
KIF5B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1214,835,906 - 14,880,896 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl214,835,901 - 14,878,251 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha212,323,571 - 12,368,548 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0213,072,118 - 13,117,087 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl213,072,118 - 13,116,722 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1212,512,247 - 12,557,211 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0212,403,006 - 12,447,970 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0212,676,797 - 12,721,749 (+)NCBIUU_Cfam_GSD_1.0
Kif5b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934411,280,577 - 11,324,435 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936574779,777 - 823,970 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936574780,074 - 823,858 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIF5B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1042,637,109 - 42,693,491 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11042,637,105 - 42,693,551 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21047,233,047 - 47,293,409 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KIF5B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1931,321,615 - 31,369,549 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl931,320,549 - 31,369,519 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605640,295,395 - 40,343,097 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kif5b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248054,465,235 - 4,514,870 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248054,464,538 - 4,514,784 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KIF5B
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3 copy number gain See cases [RCV000135414] Chr10:31999920..38119681 [GRCh38]
Chr10:32288848..38408609 [GRCh37]
Chr10:32328854..38448615 [NCBI36]
Chr10:10p11.22-11.1		 pathogenic
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 copy number gain See cases [RCV000139427] Chr10:19088161..32732293 [GRCh38]
Chr10:19377090..33021221 [GRCh37]
Chr10:19417096..33061227 [NCBI36]
Chr10:10p12.31-11.22		 likely pathogenic
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
GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3 copy number gain Breast ductal adenocarcinoma [RCV000207153] Chr10:32323692..37520394 [GRCh37]
Chr10:10p11.22-11.21		 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
NM_004521.3(KIF5B):c.2252A>G (p.His751Arg) single nucleotide variant Global developmental delay [RCV000492046] Chr10:32019912 [GRCh38]
Chr10:32308840 [GRCh37]
Chr10:10p11.22		 likely pathogenic
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 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 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
NM_004521.3(KIF5B):c.892A>G (p.Ile298Val) single nucleotide variant Inborn genetic diseases [RCV003286759] Chr10:32035592 [GRCh38]
Chr10:32324520 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1654G>T (p.Ala552Ser) single nucleotide variant Inborn genetic diseases [RCV003277853] Chr10:32028499 [GRCh38]
Chr10:32317427 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1744A>G (p.Met582Val) single nucleotide variant Inborn genetic diseases [RCV003267594] Chr10:32023018 [GRCh38]
Chr10:32311946 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.2168T>C (p.Val723Ala) single nucleotide variant Inborn genetic diseases [RCV003267029] Chr10:32021058 [GRCh38]
Chr10:32309986 [GRCh37]
Chr10:10p11.22		 uncertain significance
GRCh37/hg19 10p11.22(chr10:31425682-32599180)x1 copy number loss not provided [RCV000683254] Chr10:31425682..32599180 [GRCh37]
Chr10:10p11.22		 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
NM_004521.3(KIF5B):c.1589T>C (p.Leu530Ser) single nucleotide variant Inborn genetic diseases [RCV003268117] Chr10:32028564 [GRCh38]
Chr10:32317492 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.2475C>T (p.Ser825=) single nucleotide variant not provided [RCV000889206] Chr10:32018121 [GRCh38]
Chr10:32307049 [GRCh37]
Chr10:10p11.22		 benign
NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del) microsatellite Hypertrophic cardiomyopathy [RCV001267722]|Primary dilated cardiomyopathy [RCV002463581] Chr10:32035939..32035941 [GRCh38]
Chr10:32324867..32324869 [GRCh37]
Chr10:10p11.22		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1 copy number loss not provided [RCV001795544] Chr10:30624523..33688350 [GRCh37]
Chr10:10p11.23-11.22		 pathogenic
NM_004521.3(KIF5B):c.1726-5T>C single nucleotide variant not provided [RCV001754338] Chr10:32023041 [GRCh38]
Chr10:32311969 [GRCh37]
Chr10:10p11.22		 benign
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) copy number gain not specified [RCV002052863] Chr10:6273934..34732521 [GRCh37]
Chr10:10p15.1-11.21		 pathogenic
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
NM_004521.3(KIF5B):c.1493T>C (p.Leu498Pro) single nucleotide variant Feeding difficulties [RCV002463584] Chr10:32031161 [GRCh38]
Chr10:32320089 [GRCh37]
Chr10:10p11.22		 pathogenic
NM_004521.3(KIF5B):c.1610T>C (p.Leu537Pro) single nucleotide variant Global developmental delay [RCV002463583] Chr10:32028543 [GRCh38]
Chr10:32317471 [GRCh37]
Chr10:10p11.22		 pathogenic
NM_004521.3(KIF5B):c.2192C>T (p.Thr731Ile) single nucleotide variant Inborn genetic diseases [RCV002706966] Chr10:32021034 [GRCh38]
Chr10:32309962 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.2813G>A (p.Ser938Asn) single nucleotide variant Inborn genetic diseases [RCV002910756] Chr10:32015608 [GRCh38]
Chr10:32304536 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1352C>T (p.Thr451Met) single nucleotide variant Inborn genetic diseases [RCV003003744] Chr10:32032728 [GRCh38]
Chr10:32321656 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1216G>A (p.Ala406Thr) single nucleotide variant Inborn genetic diseases [RCV002849940] Chr10:32033934 [GRCh38]
Chr10:32322862 [GRCh37]
Chr10:10p11.22		 likely benign
NM_004521.3(KIF5B):c.1766T>C (p.Val589Ala) single nucleotide variant Inborn genetic diseases [RCV002872982] Chr10:32022996 [GRCh38]
Chr10:32311924 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.2112G>T (p.Gln704His) single nucleotide variant Inborn genetic diseases [RCV002921852] Chr10:32021114 [GRCh38]
Chr10:32310042 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.2108A>G (p.Gln703Arg) single nucleotide variant Inborn genetic diseases [RCV002832427] Chr10:32021118 [GRCh38]
Chr10:32310046 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.2863G>A (p.Val955Met) single nucleotide variant Inborn genetic diseases [RCV002936861] Chr10:32015558 [GRCh38]
Chr10:32304486 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1597A>C (p.Ile533Leu) single nucleotide variant Inborn genetic diseases [RCV002921607] Chr10:32028556 [GRCh38]
Chr10:32317484 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1441A>C (p.Asn481His) single nucleotide variant not provided [RCV002721625] Chr10:32031213 [GRCh38]
Chr10:32320141 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.156C>G (p.Phe52Leu) single nucleotide variant Inborn genetic diseases [RCV003194780] Chr10:32048522 [GRCh38]
Chr10:32337450 [GRCh37]
Chr10:10p11.22		 uncertain significance
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 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile) single nucleotide variant KIF5B-related osteogenesis imperfecta syndrome [RCV003329220] Chr10:32040412 [GRCh38]
Chr10:32329340 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1943A>C (p.Glu648Ala) single nucleotide variant Inborn genetic diseases [RCV003367326] Chr10:32022229 [GRCh38]
Chr10:32311157 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.243A>G (p.Ile81Met) single nucleotide variant Inborn genetic diseases [RCV003371324] Chr10:32040429 [GRCh38]
Chr10:32329357 [GRCh37]
Chr10:10p11.22		 uncertain significance
NM_004521.3(KIF5B):c.1580C>T (p.Ser527Leu) single nucleotide variant not provided [RCV003417312] Chr10:32031074 [GRCh38]
Chr10:32320002 [GRCh37]
Chr10:10p11.22		 likely benign
NM_004521.3(KIF5B):c.865T>G (p.Ser289Ala) single nucleotide variant Inborn genetic diseases [RCV003360215] Chr10:32035619 [GRCh38]
Chr10:32324547 [GRCh37]
Chr10:10p11.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:848
Count of miRNA genes:587
Interacting mature miRNAs:641
Transcripts:ENST00000302418, ENST00000493889
Prediction methods: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.

Markers in Region
A009Q24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,302 - 32,298,423UniSTSGRCh37
Build 361032,338,308 - 32,338,429RGDNCBI36
Celera1032,063,190 - 32,063,311RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,475 - 32,018,596UniSTS
GeneMap99-GB4 RH Map10189.45UniSTS
NCBI RH Map10491.1UniSTS
RH47155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,620 - 32,298,770UniSTSGRCh37
Build 361032,338,626 - 32,338,776RGDNCBI36
Celera1032,063,508 - 32,063,658RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,793 - 32,018,943UniSTS
RH93349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,324,536 - 32,324,913UniSTSGRCh37
Build 361032,364,542 - 32,364,919RGDNCBI36
Celera1032,089,792 - 32,090,169RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,045,084 - 32,045,461UniSTS
GeneMap99-GB4 RH Map10185.19UniSTS
D10S1308E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,299,794 - 32,299,973UniSTSGRCh37
Build 361032,339,800 - 32,339,979RGDNCBI36
Celera1032,064,682 - 32,064,861RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,019,967 - 32,020,146UniSTS
RH11000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,024 - 32,298,161UniSTSGRCh37
Build 361032,338,030 - 32,338,167RGDNCBI36
Celera1032,062,912 - 32,063,049RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,197 - 32,018,334UniSTS
GeneMap99-GB4 RH Map10186.02UniSTS
NCBI RH Map10490.6UniSTS
WI-19195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,300,138 - 32,300,429UniSTSGRCh37
Build 361032,340,144 - 32,340,435RGDNCBI36
Celera1032,065,026 - 32,065,317RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,020,311 - 32,020,602UniSTS
GeneMap99-GB4 RH Map10183.69UniSTS
Whitehead-RH Map10215.3UniSTS
NCBI RH Map10429.9UniSTS
G19439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,300,259 - 32,300,429UniSTSGRCh37
Build 361032,340,265 - 32,340,435RGDNCBI36
Celera1032,065,147 - 32,065,317RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,020,432 - 32,020,602UniSTS
SGC32704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,652 - 32,298,801UniSTSGRCh37
Build 361032,338,658 - 32,338,807RGDNCBI36
Celera1032,063,540 - 32,063,689RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,825 - 32,018,974UniSTS
GeneMap99-GB4 RH Map10186.02UniSTS
Whitehead-RH Map10215.4UniSTS
NCBI RH Map10490.6UniSTS
G20497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,032 - 32,298,170UniSTSGRCh37
Build 361032,338,038 - 32,338,176RGDNCBI36
Celera1032,062,920 - 32,063,058RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,205 - 32,018,343UniSTS
A005U02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,032 - 32,298,170UniSTSGRCh37
Build 361032,338,038 - 32,338,176RGDNCBI36
Celera1032,062,920 - 32,063,058RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,205 - 32,018,343UniSTS
GeneMap99-GB4 RH Map10191.7UniSTS
NCBI RH Map10491.1UniSTS
HUM0S12E07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,516 - 32,298,762UniSTSGRCh37
Build 361032,338,522 - 32,338,768RGDNCBI36
Celera1032,063,404 - 32,063,650RGD
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,689 - 32,018,935UniSTS
Stanford-G3 RH Map101600.0UniSTS
NCBI RH Map10462.5UniSTS
GeneMap99-G3 RH Map101600.0UniSTS
G32779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,298,302 - 32,298,423UniSTSGRCh37
Celera1032,063,190 - 32,063,311UniSTS
Cytogenetic Map10p11.22UniSTS
HuRef1032,018,475 - 32,018,596UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2439 2596 1647 545 1611 386 4354 2143 3734 411 1459 1613 175 1 1203 2787 6 2
Low 395 79 79 340 79 3 54 8 1 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK289413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP361225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU633712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302418   ⟹   ENSP00000307078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1032,009,015 - 32,056,425 (-)Ensembl
RefSeq Acc Id: ENST00000493889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1032,017,207 - 32,021,094 (-)Ensembl
RefSeq Acc Id: NM_004521   ⟹   NP_004512
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381032,009,015 - 32,056,425 (-)NCBI
GRCh371032,297,938 - 32,345,371 (-)ENTREZGENE
Build 361032,340,077 - 32,385,221 (-)NCBI Archive
HuRef1032,018,111 - 32,065,919 (-)ENTREZGENE
CHM1_11032,299,660 - 32,347,071 (-)NCBI
T2T-CHM13v2.01032,037,647 - 32,085,426 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425202   ⟹   XP_047281158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381032,015,507 - 32,056,425 (-)NCBI
RefSeq Acc Id: XM_047425203   ⟹   XP_047281159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381032,009,015 - 32,056,425 (-)NCBI
RefSeq Acc Id: XM_054365845   ⟹   XP_054221820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01032,044,134 - 32,085,426 (-)NCBI
RefSeq Acc Id: XM_054365846   ⟹   XP_054221821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01032,037,647 - 32,085,426 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_004512   ⟸   NM_004521
- UniProtKB: A0AVB2 (UniProtKB/Swiss-Prot),   Q5VZ85 (UniProtKB/Swiss-Prot),   P33176 (UniProtKB/Swiss-Prot),   V9HW29 (UniProtKB/TrEMBL),   A8K048 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000307078   ⟸   ENST00000302418
RefSeq Acc Id: XP_047281159   ⟸   XM_047425203
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047281158   ⟸   XM_047425202
- Peptide Label: isoform X1
- UniProtKB: P33176 (UniProtKB/Swiss-Prot),   A0AVB2 (UniProtKB/Swiss-Prot),   Q5VZ85 (UniProtKB/Swiss-Prot),   V9HW29 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221821   ⟸   XM_054365846
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054221820   ⟸   XM_054365845
- Peptide Label: isoform X1
- UniProtKB: P33176 (UniProtKB/Swiss-Prot),   A0AVB2 (UniProtKB/Swiss-Prot),   Q5VZ85 (UniProtKB/Swiss-Prot),   V9HW29 (UniProtKB/TrEMBL)
Protein Domains
Kinesin motor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P33176-F1-model_v2 AlphaFold P33176 1-963 view protein structure

Promoters
RGD ID:7217315
Promoter ID:EPDNEW_H14403
Type:initiation region
Name:KIF5B_1
Description:kinesin family member 5B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14409  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381032,056,425 - 32,056,485EPDNEW
RGD ID:6787846
Promoter ID:HG_KWN:9072
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000383933,   NM_004521
Position:
Human AssemblyChrPosition (strand)Source
Build 361032,384,611 - 32,385,377 (-)MPROMDB
RGD ID:6787617
Promoter ID:HG_KWN:9071
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000403329
Position:
Human AssemblyChrPosition (strand)Source
Build 361032,385,071 - 32,385,571 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6324 AgrOrtholog
COSMIC KIF5B COSMIC
Ensembl Genes ENSG00000170759 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302418 ENTREZGENE
  ENST00000302418.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.340 UniProtKB/TrEMBL
  3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.1590 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170759 GTEx
HGNC ID HGNC:6324 ENTREZGENE
Human Proteome Map KIF5B Human Proteome Map
InterPro Kinesin-like_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3799 ENTREZGENE
OMIM 602809 OMIM
PANTHER CENTROMERE PROTEIN E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KINESIN-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kinesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30108 PharmGKB
PRINTS KINESINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE KINESIN_MOTOR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KINESIN_MOTOR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KISc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AVB2 ENTREZGENE
  A8K048 ENTREZGENE, UniProtKB/TrEMBL
  KINH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2TA90_HUMAN UniProtKB/TrEMBL
  Q5VZ85 ENTREZGENE
  Q66K46_HUMAN UniProtKB/TrEMBL
  Q6P164_HUMAN UniProtKB/TrEMBL
  V9HW29 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0AVB2 UniProtKB/Swiss-Prot
  Q5VZ85 UniProtKB/Swiss-Prot