KIF12 (kinesin family member 12) - Rat Genome Database

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Gene: KIF12 (kinesin family member 12) Homo sapiens
Analyze
Symbol: KIF12
Name: kinesin family member 12
RGD ID: 1318282
HGNC Page HGNC:21495
Description: Predicted to enable ATP hydrolysis activity; microtubule binding activity; and microtubule motor activity. Predicted to be involved in microtubule-based movement. Located in extracellular exosome. Implicated in progressive familial intrahepatic cholestasis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: kinesin-like protein KIF12; PFIC8; RP11-56P10.3
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
GRCh389114,091,638 - 114,099,292 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,086,126 - 114,099,292 (-)EnsemblGRCh38hg38GRCh38
GRCh379116,853,918 - 116,861,572 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,893,739 - 115,901,158 (-)NCBINCBI36Build 36hg18NCBI36
Build 349113,933,473 - 113,940,891NCBI
Celera987,501,219 - 87,508,638 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,460,244 - 86,467,662 (-)NCBIHuRef
CHM1_19117,000,368 - 117,007,780 (-)NCBICHM1_1
T2T-CHM13v2.09126,290,301 - 126,297,955 (-)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
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9275178   PMID:12477932   PMID:15164053   PMID:15489334   PMID:15643526   PMID:19056867   PMID:20237496   PMID:21082674   PMID:21873635   PMID:22889924   PMID:23376485   PMID:24623722  
PMID:26186194   PMID:27503909   PMID:28514442   PMID:34555379   PMID:35156780   PMID:36108118   PMID:36830709   PMID:37866826  


Genomics

Comparative Map Data
KIF12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389114,091,638 - 114,099,292 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,086,126 - 114,099,292 (-)EnsemblGRCh38hg38GRCh38
GRCh379116,853,918 - 116,861,572 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,893,739 - 115,901,158 (-)NCBINCBI36Build 36hg18NCBI36
Build 349113,933,473 - 113,940,891NCBI
Celera987,501,219 - 87,508,638 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,460,244 - 86,467,662 (-)NCBIHuRef
CHM1_19117,000,368 - 117,007,780 (-)NCBICHM1_1
T2T-CHM13v2.09126,290,301 - 126,297,955 (-)NCBIT2T-CHM13v2.0
Kif12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39463,076,185 - 63,090,382 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl463,083,867 - 63,090,368 (-)EnsemblGRCm39 Ensembl
GRCm38463,157,948 - 63,172,145 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl463,165,630 - 63,172,131 (-)EnsemblGRCm38mm10GRCm38
MGSCv37462,826,671 - 62,833,165 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36462,651,998 - 62,658,492 (-)NCBIMGSCv36mm8
Celera461,822,180 - 61,828,689 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map433.96NCBI
Kif12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8581,611,730 - 81,620,977 (-)NCBIGRCr8
mRatBN7.2576,596,204 - 76,603,261 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl576,596,208 - 76,602,843 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx578,995,506 - 79,002,141 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0580,812,640 - 80,819,275 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0580,788,149 - 80,794,784 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0579,001,708 - 79,008,370 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl579,001,459 - 79,008,363 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0583,119,952 - 83,126,644 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4580,146,349 - 80,152,996 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1580,151,624 - 80,158,110 (-)NCBI
Celera575,532,721 - 75,539,356 (-)NCBICelera
Cytogenetic Map5q24NCBI
Kif12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541913,464,230 - 13,471,763 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541913,463,861 - 13,470,703 (+)NCBIChiLan1.0ChiLan1.0
KIF12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21125,278,541 - 25,295,785 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1925,280,892 - 25,292,830 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0985,189,613 - 85,197,157 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19113,556,850 - 113,564,524 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9113,556,850 - 113,564,524 (-)Ensemblpanpan1.1panPan2
KIF12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11168,361,527 - 68,370,160 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1168,361,565 - 68,369,693 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1166,764,077 - 66,772,674 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01169,484,490 - 69,493,039 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1169,484,528 - 69,492,583 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11168,001,305 - 68,009,808 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01168,032,282 - 68,040,806 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01168,770,390 - 68,778,935 (-)NCBIUU_Cfam_GSD_1.0
Kif12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947183,652,884 - 183,661,513 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364873,421,646 - 3,427,038 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364873,421,646 - 3,428,311 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIF12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1254,711,823 - 254,719,615 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11254,711,820 - 254,720,559 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21285,739,011 - 285,748,054 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KIF12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11225,486,907 - 25,495,445 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1225,487,832 - 25,495,557 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603517,325,694 - 17,333,423 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kif12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476021,031,158 - 21,037,319 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476021,030,841 - 21,041,371 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KIF12
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001388308.1(KIF12):c.1698-4C>A single nucleotide variant Malignant tumor of prostate [RCV000149339] Chr9:114092455 [GRCh38]
Chr9:116854735 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q32(chr9:116822389-116859863)x3 copy number gain See cases [RCV000446224] Chr9:116822389..116859863 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2		 pathogenic
NM_001388308.1(KIF12):c.1454C>T (p.Pro485Leu) single nucleotide variant Inborn genetic diseases [RCV003259276] Chr9:114093444 [GRCh38]
Chr9:116855724 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.644C>G (p.Thr215Arg) single nucleotide variant Inborn genetic diseases [RCV003293029] Chr9:114097303 [GRCh38]
Chr9:116859583 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.935A>G (p.Gln312Arg) single nucleotide variant Inborn genetic diseases [RCV003300755] Chr9:114095293 [GRCh38]
Chr9:116857573 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.952C>G (p.Arg318Gly) single nucleotide variant Inborn genetic diseases [RCV003280770] Chr9:114095276 [GRCh38]
Chr9:116857556 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9q32(chr9:116813039-116867054)x3 copy number gain not provided [RCV000748631] Chr9:116813039..116867054 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9q32(chr9:116816780-116870232)x3 copy number gain not provided [RCV000748632] Chr9:116816780..116870232 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001388308.1(KIF12):c.1402C>T (p.Arg468Cys) single nucleotide variant not provided [RCV000959078] Chr9:114093496 [GRCh38]
Chr9:116855776 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001388308.1(KIF12):c.1211T>C (p.Met404Thr) single nucleotide variant not provided [RCV000959079] Chr9:114094364 [GRCh38]
Chr9:116856644 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9q32(chr9:116642144-117613527)x1 copy number loss not provided [RCV001006255] Chr9:116642144..117613527 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32		 uncertain significance
NM_001388308.1(KIF12):c.1392A>G (p.Ala464=) single nucleotide variant not provided [RCV000956739] Chr9:114093894 [GRCh38]
Chr9:116856174 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 8 [RCV001795884] Chr9:114095073 [GRCh38]
Chr9:116857353 [GRCh37]
Chr9:9q32		 pathogenic
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met) single nucleotide variant Cholestasis, progressive familial intrahepatic, 8 [RCV001795885]|not provided [RCV002292667] Chr9:114095118 [GRCh38]
Chr9:116857398 [GRCh37]
Chr9:9q32		 pathogenic|likely pathogenic
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 8 [RCV001795886] Chr9:114096069 [GRCh38]
Chr9:116858349 [GRCh37]
Chr9:9q32		 pathogenic
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln) single nucleotide variant Cholestasis, progressive familial intrahepatic, 8 [RCV001795887] Chr9:114095072 [GRCh38]
Chr9:116857352 [GRCh37]
Chr9:9q32		 pathogenic|uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
GRCh37/hg19 9q32-33.1(chr9:116506015-119942279) copy number loss not specified [RCV002052832] Chr9:116506015..119942279 [GRCh37]
Chr9:9q32-33.1		 uncertain significance
NC_000009.11:g.(?_116037910)_(116993432_?)dup duplication not provided [RCV003123074] Chr9:116037910..116993432 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1596G>A (p.Gln532=) single nucleotide variant not provided [RCV003149172] Chr9:114093229 [GRCh38]
Chr9:116855509 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001388308.1(KIF12):c.430del (p.Ala144fs) deletion Cholestasis, progressive familial intrahepatic, 8 [RCV002283673] Chr9:114097687 [GRCh38]
Chr9:116859967 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_001388308.1(KIF12):c.1561T>G (p.Trp521Gly) single nucleotide variant Inborn genetic diseases [RCV002990993] Chr9:114093264 [GRCh38]
Chr9:116855544 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.998G>A (p.Arg333His) single nucleotide variant not provided [RCV002309007] Chr9:114095230 [GRCh38]
Chr9:116857510 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.896-14C>A single nucleotide variant not provided [RCV002776009] Chr9:114095346 [GRCh38]
Chr9:116857626 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1665C>T (p.Cys555=) single nucleotide variant not provided [RCV002902929] Chr9:114092574 [GRCh38]
Chr9:116854854 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1802C>T (p.Ser601Leu) single nucleotide variant Inborn genetic diseases [RCV002749831] Chr9:114092347 [GRCh38]
Chr9:116854627 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.728G>C (p.Ser243Thr) single nucleotide variant Inborn genetic diseases [RCV002836619] Chr9:114096397 [GRCh38]
Chr9:116858677 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1683G>A (p.Lys561=) single nucleotide variant not provided [RCV002974826] Chr9:114092556 [GRCh38]
Chr9:116854836 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1090C>T (p.Arg364Trp) single nucleotide variant Inborn genetic diseases [RCV002752072] Chr9:114095052 [GRCh38]
Chr9:116857332 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1886G>A (p.Arg629Gln) single nucleotide variant Inborn genetic diseases [RCV002990964] Chr9:114091931 [GRCh38]
Chr9:116854211 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1825G>A (p.Gly609Arg) single nucleotide variant not provided [RCV002994390] Chr9:114091992 [GRCh38]
Chr9:116854272 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1223-8C>T single nucleotide variant not provided [RCV002967468] Chr9:114094279 [GRCh38]
Chr9:116856559 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1014+11G>A single nucleotide variant not provided [RCV002776008] Chr9:114095203 [GRCh38]
Chr9:116857483 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1343G>A (p.Arg448Gln) single nucleotide variant Inborn genetic diseases [RCV002993057] Chr9:114093943 [GRCh38]
Chr9:116856223 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.953G>A (p.Arg318Gln) single nucleotide variant Inborn genetic diseases [RCV002754607] Chr9:114095275 [GRCh38]
Chr9:116857555 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1711T>A (p.Trp571Arg) single nucleotide variant Inborn genetic diseases [RCV002950495] Chr9:114092438 [GRCh38]
Chr9:116854718 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1914T>C (p.Ser638=) single nucleotide variant not provided [RCV002885783] Chr9:114091903 [GRCh38]
Chr9:116854183 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1293G>T (p.Met431Ile) single nucleotide variant not provided [RCV002843918] Chr9:114094201 [GRCh38]
Chr9:116856481 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.438G>A (p.Leu146=) single nucleotide variant not provided [RCV002948499] Chr9:114097679 [GRCh38]
Chr9:116859959 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1895G>A (p.Arg632His) single nucleotide variant Inborn genetic diseases [RCV002661285] Chr9:114091922 [GRCh38]
Chr9:116854202 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1948C>G (p.Pro650Ala) single nucleotide variant not provided [RCV002909821] Chr9:114091869 [GRCh38]
Chr9:116854149 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1715C>G (p.Thr572Ser) single nucleotide variant not provided [RCV002952939] Chr9:114092434 [GRCh38]
Chr9:116854714 [GRCh37]
Chr9:9q32		 benign|conflicting interpretations of pathogenicity
NM_001388308.1(KIF12):c.1491+12G>A single nucleotide variant not provided [RCV002805715] Chr9:114093395 [GRCh38]
Chr9:116855675 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1183C>T (p.Arg395Cys) single nucleotide variant Inborn genetic diseases [RCV002768546] Chr9:114094392 [GRCh38]
Chr9:116856672 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1223-13T>C single nucleotide variant not provided [RCV002790082] Chr9:114094284 [GRCh38]
Chr9:116856564 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1313+18G>A single nucleotide variant not provided [RCV002574241] Chr9:114094163 [GRCh38]
Chr9:116856443 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.943A>G (p.Ile315Val) single nucleotide variant Inborn genetic diseases [RCV002708730] Chr9:114095285 [GRCh38]
Chr9:116857565 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1119+11G>A single nucleotide variant not provided [RCV002790216] Chr9:114095012 [GRCh38]
Chr9:116857292 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1724G>A (p.Arg575Gln) single nucleotide variant Inborn genetic diseases [RCV002956432] Chr9:114092425 [GRCh38]
Chr9:116854705 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1842C>T (p.Ala614=) single nucleotide variant not provided [RCV003023197] Chr9:114091975 [GRCh38]
Chr9:116854255 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1262G>A (p.Arg421Gln) single nucleotide variant Inborn genetic diseases [RCV002891318] Chr9:114094232 [GRCh38]
Chr9:116856512 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1900del (p.Gln634fs) deletion not provided [RCV002958401] Chr9:114091917 [GRCh38]
Chr9:116854197 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1014+4C>G single nucleotide variant not provided [RCV002917809] Chr9:114095210 [GRCh38]
Chr9:116857490 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1011C>T (p.Leu337=) single nucleotide variant not provided [RCV002578639] Chr9:114095217 [GRCh38]
Chr9:116857497 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1921G>A (p.Ala641Thr) single nucleotide variant not provided [RCV002922321] Chr9:114091896 [GRCh38]
Chr9:116854176 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.646+10G>T single nucleotide variant not provided [RCV002832834] Chr9:114097291 [GRCh38]
Chr9:116859571 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.598G>T (p.Val200Leu) single nucleotide variant not provided [RCV002895349] Chr9:114097349 [GRCh38]
Chr9:116859629 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1303G>A (p.Glu435Lys) single nucleotide variant Inborn genetic diseases [RCV003277486] Chr9:114094191 [GRCh38]
Chr9:116856471 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.704A>G (p.His235Arg) single nucleotide variant Cholestasis, progressive familial intrahepatic, 8 [RCV003228196] Chr9:114096421 [GRCh38]
Chr9:116858701 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1544G>A (p.Arg515Gln) single nucleotide variant Inborn genetic diseases [RCV003190840] Chr9:114093281 [GRCh38]
Chr9:116855561 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1123C>T (p.Pro375Ser) single nucleotide variant Inborn genetic diseases [RCV003261377] Chr9:114094452 [GRCh38]
Chr9:116856732 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1660C>T (p.Pro554Ser) single nucleotide variant Inborn genetic diseases [RCV003215071] Chr9:114092579 [GRCh38]
Chr9:116854859 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1740G>A (p.Met580Ile) single nucleotide variant Inborn genetic diseases [RCV003347821]|not provided [RCV003561319] Chr9:114092409 [GRCh38]
Chr9:116854689 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_001388308.1(KIF12):c.1408C>T (p.Leu470Phe) single nucleotide variant Inborn genetic diseases [RCV003350239] Chr9:114093490 [GRCh38]
Chr9:116855770 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1819G>A (p.Gly607Arg) single nucleotide variant Inborn genetic diseases [RCV003354440] Chr9:114091998 [GRCh38]
Chr9:116854278 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1403G>A (p.Arg468His) single nucleotide variant Inborn genetic diseases [RCV004364446]|KIF12-related disorder [RCV003402853]|not provided [RCV004696540] Chr9:114093495 [GRCh38]
Chr9:116855775 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1596+14T>C single nucleotide variant not provided [RCV003881006] Chr9:114093215 [GRCh38]
Chr9:116855495 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1125T>C (p.Pro375=) single nucleotide variant not provided [RCV003714381] Chr9:114094450 [GRCh38]
Chr9:116856730 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1551_1558del (p.Ala519fs) deletion not provided [RCV003826019] Chr9:114093267..114093274 [GRCh38]
Chr9:116855547..116855554 [GRCh37]
Chr9:9q32		 pathogenic
NM_001388308.1(KIF12):c.731G>A (p.Arg244His) single nucleotide variant not provided [RCV003548071] Chr9:114096394 [GRCh38]
Chr9:116858674 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.929G>A (p.Arg310Gln) single nucleotide variant not provided [RCV003826742] Chr9:114095299 [GRCh38]
Chr9:116857579 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1223-6C>T single nucleotide variant not provided [RCV003715781] Chr9:114094277 [GRCh38]
Chr9:116856557 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1698-1G>C single nucleotide variant not provided [RCV003687336] Chr9:114092452 [GRCh38]
Chr9:116854732 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_001388308.1(KIF12):c.1015-15G>A single nucleotide variant not provided [RCV003811845] Chr9:114095142 [GRCh38]
Chr9:116857422 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1401-15T>C single nucleotide variant not provided [RCV003849832] Chr9:114093512 [GRCh38]
Chr9:116855792 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.912G>A (p.Leu304=) single nucleotide variant not provided [RCV003838101] Chr9:114095316 [GRCh38]
Chr9:116857596 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1551C>T (p.Pro517=) single nucleotide variant not provided [RCV003559087] Chr9:114093274 [GRCh38]
Chr9:116855554 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1118A>G (p.Lys373Arg) single nucleotide variant not provided [RCV003728591] Chr9:114095024 [GRCh38]
Chr9:116857304 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1455G>A (p.Pro485=) single nucleotide variant not provided [RCV003727171] Chr9:114093443 [GRCh38]
Chr9:116855723 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.697C>T (p.Arg233Ter) single nucleotide variant not provided [RCV003820599] Chr9:114096428 [GRCh38]
Chr9:116858708 [GRCh37]
Chr9:9q32		 pathogenic
NM_001388308.1(KIF12):c.829G>A (p.Ala277Thr) single nucleotide variant not provided [RCV003564606] Chr9:114096117 [GRCh38]
Chr9:116858397 [GRCh37]
Chr9:9q32		 benign
NM_001388308.1(KIF12):c.1249G>A (p.Ala417Thr) single nucleotide variant not provided [RCV003733427] Chr9:114094245 [GRCh38]
Chr9:116856525 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1243C>G (p.Arg415Gly) single nucleotide variant not provided [RCV003553571] Chr9:114094251 [GRCh38]
Chr9:116856531 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.480C>T (p.Arg160=) single nucleotide variant not provided [RCV003859022] Chr9:114097637 [GRCh38]
Chr9:116859917 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1491+11C>T single nucleotide variant not provided [RCV003823475] Chr9:114093396 [GRCh38]
Chr9:116855676 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1101C>T (p.Thr367=) single nucleotide variant not provided [RCV003727345] Chr9:114095041 [GRCh38]
Chr9:116857321 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.1550C>T (p.Pro517Leu) single nucleotide variant not provided [RCV003728766] Chr9:114093275 [GRCh38]
Chr9:116855555 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1914T>G (p.Ser638Arg) single nucleotide variant Inborn genetic diseases [RCV004364923]|not provided [RCV003541937] Chr9:114091903 [GRCh38]
Chr9:116854183 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_001388308.1(KIF12):c.1314-4C>G single nucleotide variant KIF12-related disorder [RCV003957269] Chr9:114093976 [GRCh38]
Chr9:116856256 [GRCh37]
Chr9:9q32		 likely benign
NM_001388308.1(KIF12):c.375+1G>T single nucleotide variant Cholestasis, progressive familial intrahepatic, 8 [RCV003989888] Chr9:114098114 [GRCh38]
Chr9:116860394 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_001388308.1(KIF12):c.1723C>T (p.Arg575Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 8 [RCV003989889] Chr9:114092426 [GRCh38]
Chr9:116854706 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_001388308.1(KIF12):c.878G>A (p.Arg293Gln) single nucleotide variant not provided [RCV004547005] Chr9:114096068 [GRCh38]
Chr9:116858348 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.425C>A (p.Thr142Asn) single nucleotide variant Inborn genetic diseases [RCV004411732] Chr9:114097692 [GRCh38]
Chr9:116859972 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1771C>G (p.Pro591Ala) single nucleotide variant Inborn genetic diseases [RCV004411733] Chr9:114092378 [GRCh38]
Chr9:116854658 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.430G>A (p.Ala144Thr) single nucleotide variant Inborn genetic diseases [RCV004411734] Chr9:114097687 [GRCh38]
Chr9:116859967 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.655C>T (p.Arg219Cys) single nucleotide variant Inborn genetic diseases [RCV004411735] Chr9:114096470 [GRCh38]
Chr9:116858750 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.676A>T (p.Thr226Ser) single nucleotide variant Inborn genetic diseases [RCV004411736] Chr9:114096449 [GRCh38]
Chr9:116858729 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.698G>A (p.Arg233Gln) single nucleotide variant Inborn genetic diseases [RCV004411737] Chr9:114096427 [GRCh38]
Chr9:116858707 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.854T>A (p.Met285Lys) single nucleotide variant Inborn genetic diseases [RCV004411738] Chr9:114096092 [GRCh38]
Chr9:116858372 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.983A>T (p.Asp328Val) single nucleotide variant Inborn genetic diseases [RCV004411739] Chr9:114095245 [GRCh38]
Chr9:116857525 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1024G>C (p.Val342Leu) single nucleotide variant Inborn genetic diseases [RCV004411740] Chr9:114095118 [GRCh38]
Chr9:116857398 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1145G>A (p.Arg382His) single nucleotide variant Inborn genetic diseases [RCV004411741] Chr9:114094430 [GRCh38]
Chr9:116856710 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1200G>C (p.Gln400His) single nucleotide variant Inborn genetic diseases [RCV004411742] Chr9:114094375 [GRCh38]
Chr9:116856655 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.730C>T (p.Arg244Cys) single nucleotide variant Inborn genetic diseases [RCV004631160] Chr9:114096395 [GRCh38]
Chr9:116858675 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1064C>T (p.Thr355Ile) single nucleotide variant Inborn genetic diseases [RCV004631159] Chr9:114095078 [GRCh38]
Chr9:116857358 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.847G>C (p.Glu283Gln) single nucleotide variant Inborn genetic diseases [RCV004631161] Chr9:114096099 [GRCh38]
Chr9:116858379 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1004T>A (p.Val335Asp) single nucleotide variant Inborn genetic diseases [RCV004631162] Chr9:114095224 [GRCh38]
Chr9:116857504 [GRCh37]
Chr9:9q32		 uncertain significance
NM_001388308.1(KIF12):c.1738A>T (p.Met580Leu) single nucleotide variant KIF12-related disorder [RCV004730457] Chr9:114092411 [GRCh38]
Chr9:116854691 [GRCh37]
Chr9:9q32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1610
Count of miRNA genes:738
Interacting mature miRNAs:881
Transcripts:ENST00000374118, ENST00000468460, ENST00000473174, ENST00000491059, ENST00000498016
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.

Markers in Region
RH78789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,854,116 - 116,854,235UniSTSGRCh37
Build 369115,893,937 - 115,894,056RGDNCBI36
Celera987,501,417 - 87,501,536RGD
Cytogenetic Map9q32UniSTS
HuRef986,460,442 - 86,460,561UniSTS
GeneMap99-GB4 RH Map9367.55UniSTS
A008C07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,860,052 - 116,860,152UniSTSGRCh37
Build 369115,899,873 - 115,899,973RGDNCBI36
Celera987,507,353 - 87,507,453RGD
Cytogenetic Map9q32UniSTS
HuRef986,466,378 - 86,466,478UniSTS
GeneMap99-GB4 RH Map9357.94UniSTS
MARC_14577-14578:1009483106:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,858,714 - 116,859,661UniSTSGRCh37
Build 369115,898,535 - 115,899,482RGDNCBI36
Celera987,506,015 - 87,506,962RGD


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
renal system
reproductive system
respiratory system
sensory system
1083 2207 2405 1994 4805 1694 2292 4 617 1082 461 2151 5826 5118 33 3594 838 1723 1560 167

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL137850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000374118   ⟹   ENSP00000363232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,091,640 - 114,099,057 (-)Ensembl
Ensembl Acc Id: ENST00000468460   ⟹   ENSP00000473459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,091,640 - 114,099,276 (-)Ensembl
Ensembl Acc Id: ENST00000473174   ⟹   ENSP00000491357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,093,306 - 114,097,716 (-)Ensembl
Ensembl Acc Id: ENST00000491059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,097,400 - 114,097,936 (-)Ensembl
Ensembl Acc Id: ENST00000498016   ⟹   ENSP00000491090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,086,126 - 114,093,917 (-)Ensembl
Ensembl Acc Id: ENST00000639832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,091,638 - 114,099,227 (-)Ensembl
Ensembl Acc Id: ENST00000640217   ⟹   ENSP00000491702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,091,638 - 114,099,292 (-)Ensembl
Ensembl Acc Id: ENST00000640553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,091,638 - 114,099,057 (-)Ensembl
Ensembl Acc Id: ENST00000643988   ⟹   ENSP00000495410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,091,638 - 114,092,451 (-)Ensembl
Ensembl Acc Id: ENST00000691154   ⟹   ENSP00000510798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,098,136 - 114,099,161 (-)Ensembl
RefSeq Acc Id: NM_001388308   ⟹   NP_001375237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,091,638 - 114,099,292 (-)NCBI
T2T-CHM13v2.09126,290,301 - 126,297,955 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138424   ⟹   NP_612433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,091,638 - 114,099,066 (-)NCBI
GRCh379116,853,903 - 116,861,600 (-)NCBI
Build 369115,893,739 - 115,901,158 (-)NCBI Archive
Celera987,501,219 - 87,508,638 (-)RGD
HuRef986,460,244 - 86,467,662 (-)ENTREZGENE
CHM1_19117,000,368 - 117,007,780 (-)NCBI
T2T-CHM13v2.09126,290,301 - 126,297,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251683   ⟹   XP_005251740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,091,638 - 114,099,292 (-)NCBI
GRCh379116,853,903 - 116,861,600 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716947   ⟹   XP_006717010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,091,638 - 114,099,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447406   ⟹   XP_024303174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,092,550 - 114,099,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422709   ⟹   XP_047278665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,091,638 - 114,099,292 (-)NCBI
RefSeq Acc Id: XM_047422710   ⟹   XP_047278666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,091,638 - 114,099,292 (-)NCBI
RefSeq Acc Id: XM_047422711   ⟹   XP_047278667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,091,638 - 114,098,190 (-)NCBI
RefSeq Acc Id: XM_054361884   ⟹   XP_054217859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,290,301 - 126,297,955 (-)NCBI
RefSeq Acc Id: XM_054361885   ⟹   XP_054217860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,290,301 - 126,297,955 (-)NCBI
RefSeq Acc Id: XM_054361886   ⟹   XP_054217861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,290,301 - 126,297,955 (-)NCBI
RefSeq Acc Id: XM_054361887   ⟹   XP_054217862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,290,301 - 126,297,946 (-)NCBI
RefSeq Acc Id: XM_054361888   ⟹   XP_054217863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,291,213 - 126,297,955 (-)NCBI
RefSeq Acc Id: XM_054361889   ⟹   XP_054217864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,290,301 - 126,296,853 (-)NCBI
RefSeq Acc Id: XR_007061239
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,092,550 - 114,099,292 (-)NCBI
RefSeq Acc Id: XR_007061240
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,092,550 - 114,099,292 (-)NCBI
RefSeq Acc Id: XR_008487933
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,291,213 - 126,297,955 (-)NCBI
RefSeq Acc Id: XR_008487934
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,291,213 - 126,297,955 (-)NCBI
RefSeq Acc Id: NP_612433   ⟸   NM_138424
- Peptide Label: isoform 1
- UniProtKB: Q96FN5 (UniProtKB/Swiss-Prot),   B1ALC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251740   ⟸   XM_005251683
- Peptide Label: isoform X3
- UniProtKB: Q96FN5 (UniProtKB/Swiss-Prot),   Q5TBE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717010   ⟸   XM_006716947
- Peptide Label: isoform X4
- UniProtKB: Q96FN5 (UniProtKB/Swiss-Prot),   Q5TBE0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303174   ⟸   XM_024447406
- Peptide Label: isoform X5
- Sequence:
Ensembl Acc Id: ENSP00000363232   ⟸   ENST00000374118
Ensembl Acc Id: ENSP00000473459   ⟸   ENST00000468460
Ensembl Acc Id: ENSP00000491702   ⟸   ENST00000640217
Ensembl Acc Id: ENSP00000491090   ⟸   ENST00000498016
Ensembl Acc Id: ENSP00000495410   ⟸   ENST00000643988
Ensembl Acc Id: ENSP00000491357   ⟸   ENST00000473174
RefSeq Acc Id: NP_001375237   ⟸   NM_001388308
- Peptide Label: isoform 2
- UniProtKB: Q96FN5 (UniProtKB/Swiss-Prot),   Q5TBE0 (UniProtKB/Swiss-Prot),   A0A1W2PPS5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000510798   ⟸   ENST00000691154
RefSeq Acc Id: XP_047278666   ⟸   XM_047422710
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047278665   ⟸   XM_047422709
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047278667   ⟸   XM_047422711
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054217861   ⟸   XM_054361886
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217860   ⟸   XM_054361885
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054217859   ⟸   XM_054361884
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217862   ⟸   XM_054361887
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054217864   ⟸   XM_054361889
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054217863   ⟸   XM_054361888
- Peptide Label: isoform X5
Protein Domains
Kinesin motor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96FN5-F1-model_v2 AlphaFold Q96FN5 1-646 view protein structure

Promoters
RGD ID:7215949
Promoter ID:EPDNEW_H13720
Type:initiation region
Name:KIF12_3
Description:kinesin family member 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13721  EPDNEW_H13722  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,098,440 - 114,098,500EPDNEW
RGD ID:7215951
Promoter ID:EPDNEW_H13721
Type:single initiation site
Name:KIF12_2
Description:kinesin family member 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13720  EPDNEW_H13722  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,099,066 - 114,099,126EPDNEW
RGD ID:7215953
Promoter ID:EPDNEW_H13722
Type:initiation region
Name:KIF12_1
Description:kinesin family member 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13720  EPDNEW_H13721  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,099,292 - 114,099,352EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21495 AgrOrtholog
COSMIC KIF12 COSMIC
Ensembl Genes ENSG00000136883 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000473174.1 UniProtKB/TrEMBL
  ENST00000498016.1 UniProtKB/TrEMBL
  ENST00000640217 ENTREZGENE
  ENST00000640217.2 UniProtKB/TrEMBL
  ENST00000640553 ENTREZGENE
  ENST00000643988.1 UniProtKB/TrEMBL
  ENST00000691154.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136883 GTEx
HGNC ID HGNC:21495 ENTREZGENE
Human Proteome Map KIF12 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:113220 UniProtKB/Swiss-Prot
NCBI Gene 113220 ENTREZGENE
OMIM 611278 OMIM
PANTHER CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZGC:66125 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kinesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134931618 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 A0A1W2PNV5_HUMAN UniProtKB/TrEMBL
  A0A1W2PP63_HUMAN UniProtKB/TrEMBL
  A0A1W2PPS5 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y6R2_HUMAN UniProtKB/TrEMBL
  A0A8I5KWX3_HUMAN UniProtKB/TrEMBL
  B1ALC3 ENTREZGENE
  KIF12_HUMAN UniProtKB/Swiss-Prot
  Q5TBE0 ENTREZGENE
  Q96FN5 ENTREZGENE
UniProt Secondary Q5TBE0 UniProtKB/Swiss-Prot