KIFC2 (kinesin family member C2) - Rat Genome Database

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Gene: KIFC2 (kinesin family member C2) Homo sapiens
Analyze
Symbol: KIFC2
Name: kinesin family member C2
RGD ID: 1352702
HGNC Page HGNC
Description: Predicted to have ATPase activity; microtubule binding activity; and microtubule motor activity. Predicted to be involved in microtubule-based movement and mitotic spindle assembly. Predicted to localize to microtubule cytoskeleton and nucleus; INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; arsenous acid; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: kinesin-like protein KIFC2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,466,043 - 144,474,202 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,466,246 - 144,474,202 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,691,720 - 145,699,585 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,662,546 - 145,670,307 (+)NCBINCBI36hg18NCBI36
Build 348145,662,545 - 145,670,306NCBI
Celera8141,866,838 - 141,874,598 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,804,842 - 140,842,045 (+)NCBIHuRef
CHM1_18145,729,981 - 145,737,758 (+)NCBICHM1_1
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

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9115737   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16341674   PMID:17474147   PMID:21873635   PMID:21900206   PMID:21988832  
PMID:22130050   PMID:25201988   PMID:30945288  


Genomics

Comparative Map Data
KIFC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,466,043 - 144,474,202 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,466,246 - 144,474,202 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,691,720 - 145,699,585 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,662,546 - 145,670,307 (+)NCBINCBI36hg18NCBI36
Build 348145,662,545 - 145,670,306NCBI
Celera8141,866,838 - 141,874,598 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,804,842 - 140,842,045 (+)NCBIHuRef
CHM1_18145,729,981 - 145,737,758 (+)NCBICHM1_1
Kifc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,543,984 - 76,552,396 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,544,058 - 76,552,396 (+)Ensembl
GRCm381576,659,784 - 76,668,196 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,659,858 - 76,668,196 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,491,071 - 76,498,626 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,487,911 - 76,495,451 (+)NCBImm8
Celera1578,154,253 - 78,161,808 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.23NCBI
Kifc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,380,634 - 108,388,364 (+)NCBI
Rnor_6.0 Ensembl7117,723,263 - 117,730,702 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,722,732 - 117,730,702 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,710,991 - 117,718,785 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,710,367 - 114,717,778 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,744,598 - 114,752,006 (+)NCBI
Celera7104,731,208 - 104,738,267 (+)NCBICelera
Cytogenetic Map7q34NCBI
Kifc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,087,437 - 3,093,190 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,087,168 - 3,093,916 (+)NCBIChiLan1.0ChiLan1.0
KIFC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,221,125 - 144,229,614 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,222,468 - 144,228,947 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,232,942 - 141,241,181 (+)NCBIMhudiblu_PPA_v0panPan3
KIFC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,875,611 - 37,883,166 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,875,998 - 37,882,974 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,836,572 - 37,844,315 (+)NCBI
ROS_Cfam_1.01338,349,547 - 38,357,292 (+)NCBI
UMICH_Zoey_3.11338,041,300 - 38,049,042 (+)NCBI
UNSW_CanFamBas_1.01338,149,933 - 38,157,679 (+)NCBI
UU_Cfam_GSD_1.01338,626,382 - 38,634,126 (+)NCBI
Kifc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303365,038 - 372,382 (-)NCBI
SpeTri2.0NW_0049364707,791,137 - 7,800,221 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIFC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4324,623 - 332,435 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14324,623 - 332,221 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24416,001 - 422,975 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KIFC2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,677,652 - 138,685,504 (+)NCBI
ChlSab1.1 Ensembl8138,677,411 - 138,686,661 (+)Ensembl
Kifc2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,387,891 - 12,394,526 (-)NCBI

Position Markers
RH1549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,727,267 - 145,727,494UniSTSGRCh37
Build 368145,698,075 - 145,698,302RGDNCBI36
Celera8141,902,739 - 141,902,966RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,840,421 - 140,840,648UniSTS
GeneMap99-GB4 RH Map8564.4UniSTS
SGC33369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,727,383 - 145,727,493UniSTSGRCh37
Build 368145,698,191 - 145,698,301RGDNCBI36
Celera8141,902,855 - 141,902,965RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,840,537 - 140,840,647UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS
Whitehead-RH Map8723.2UniSTS
PPP1R16A_1616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,726,897 - 145,727,528UniSTSGRCh37
Build 368145,697,705 - 145,698,336RGDNCBI36
Celera8141,902,369 - 141,903,000RGD
HuRef8140,840,051 - 140,840,682UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3130
Count of miRNA genes:914
Interacting mature miRNAs:1135
Transcripts:ENST00000301331, ENST00000301332, ENST00000529644, ENST00000529864, ENST00000531423, ENST00000531425, ENST00000533114
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.


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 1
Medium 2296 1644 1425 372 1005 215 3321 930 3468 224 1337 1476 169 1095 1937 2
Low 143 1342 298 250 925 248 1034 1263 265 195 120 134 5 1 109 851 4 2
Below cutoff 3 3 2 15 2 1 4 1 2 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000301332   ⟹   ENSP00000301332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,466,355 - 144,474,115 (+)Ensembl
RefSeq Acc Id: ENST00000529644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,467,261 - 144,468,439 (+)Ensembl
RefSeq Acc Id: ENST00000529864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,468,625 - 144,469,380 (+)Ensembl
RefSeq Acc Id: ENST00000531423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,470,582 - 144,472,808 (+)Ensembl
RefSeq Acc Id: ENST00000531425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,469,546 - 144,473,176 (+)Ensembl
RefSeq Acc Id: ENST00000533114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,467,479 - 144,468,426 (+)Ensembl
RefSeq Acc Id: ENST00000642354   ⟹   ENSP00000496539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,466,352 - 144,473,296 (+)Ensembl
RefSeq Acc Id: ENST00000643461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,466,043 - 144,474,202 (+)Ensembl
RefSeq Acc Id: ENST00000645548   ⟹   ENSP00000494595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,466,043 - 144,474,202 (+)Ensembl
RefSeq Acc Id: NM_001369769   ⟹   NP_001356698
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,466,337 - 144,474,202 (+)NCBI
RefSeq Acc Id: NM_145754   ⟹   NP_665697
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,466,337 - 144,474,202 (+)NCBI
GRCh378145,691,432 - 145,699,499 (+)NCBI
Build 368145,662,546 - 145,670,307 (+)NCBI Archive
Celera8141,866,838 - 141,874,598 (+)RGD
HuRef8140,804,842 - 140,842,045 (+)ENTREZGENE
CHM1_18145,729,981 - 145,737,758 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517362   ⟹   XP_011515664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,466,246 - 144,471,007 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_665697   ⟸   NM_145754
- Peptide Label: isoform 1
- UniProtKB: Q96AC6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515664   ⟸   XM_011517362
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001356698   ⟸   NM_001369769
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000496539   ⟸   ENST00000642354
RefSeq Acc Id: ENSP00000301332   ⟸   ENST00000301332
RefSeq Acc Id: ENSP00000494595   ⟸   ENST00000645548
Protein Domains
Kinesin motor

Promoters
RGD ID:7214499
Promoter ID:EPDNEW_H12988
Type:initiation region
Name:KIFC2_2
Description:kinesin family member C2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12989  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,466,049 - 144,466,109EPDNEW
RGD ID:7214485
Promoter ID:EPDNEW_H12989
Type:initiation region
Name:KIFC2_1
Description:kinesin family member C2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12988  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,466,337 - 144,466,397EPDNEW
RGD ID:6806675
Promoter ID:HG_KWN:62351
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000301331,   NM_145754
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,662,751 - 145,663,251 (+)MPROMDB
RGD ID:6813432
Promoter ID:HG_ACW:79435
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:KIFC2.CAPR07,   KIFC2.FAPR07,   KIFC2.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,662,911 - 145,663,411 (+)MPROMDB
RGD ID:6806830
Promoter ID:HG_KWN:62352
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:UC003ZDA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,668,796 - 145,669,867 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
NM_003923.2(FOXH1):c.966G>A (p.Gly322=) single nucleotide variant Malignant melanoma [RCV000068212] Chr8:144474370 [GRCh38]
Chr8:145699753 [GRCh37]
Chr8:145670561 [NCBI36]
Chr8:8q24.3
not provided
NM_003923.2(FOXH1):c.352G>A (p.Glu118Lys) single nucleotide variant Malignant melanoma [RCV000068213] Chr8:144474984 [GRCh38]
Chr8:145700367 [GRCh37]
Chr8:145671175 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3 copy number gain See cases [RCV000140675] Chr8:144468986..144535245 [GRCh38]
Chr8:145694369..145760629 [GRCh37]
Chr8:145665177..145731437 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*237_*239del deletion Holoprosencephaly sequence [RCV000283821] Chr8:144473999..144474001 [GRCh38]
Chr8:145699382..145699384 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*172C>G single nucleotide variant Holoprosencephaly sequence [RCV000343524] Chr8:144474066 [GRCh38]
Chr8:145699449 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*311C>T single nucleotide variant Holoprosencephaly sequence [RCV000378246] Chr8:144473927 [GRCh38]
Chr8:145699310 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.*472G>T single nucleotide variant Holoprosencephaly sequence [RCV000282528] Chr8:144473766 [GRCh38]
Chr8:145699149 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.*451C>T single nucleotide variant Holoprosencephaly sequence [RCV000319003] Chr8:144473787 [GRCh38]
Chr8:145699170 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145655903-145742879)x1 copy number loss not provided [RCV000748028] Chr8:145655903..145742879 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758635)x3 copy number gain not provided [RCV000748034] Chr8:145667662..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758661)x3 copy number gain not provided [RCV000748035] Chr8:145667662..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145763152)x3 copy number gain not provided [RCV000748036] Chr8:145667662..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667664-145755918)x3 copy number gain not provided [RCV000748037] Chr8:145667664..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145692296-145753271)x1 copy number loss not provided [RCV000748038] Chr8:145692296..145753271 [GRCh37]
Chr8:8q24.3
benign
NM_001369769.2(KIFC2):c.2280_2282delinsTTC (p.Cys761Ser) indel Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia [RCV000853586] Chr8:144473293..144473295 [GRCh38]
Chr8:145698676..145698678 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_001369769.2(KIFC2):c.24C>T (p.Leu8=) single nucleotide variant not provided [RCV000963495] Chr8:144466443 [GRCh38]
Chr8:145691826 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*55C>T single nucleotide variant Holoprosencephaly sequence [RCV000289698] Chr8:144474183 [GRCh38]
Chr8:145699566 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_003923.3(FOXH1):c.*74G>A single nucleotide variant Holoprosencephaly sequence [RCV000403162] Chr8:144474164 [GRCh38]
Chr8:145699547 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3 copy number gain not provided [RCV000847278] Chr8:145695493..145798535 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145603133-145695493)x3 copy number gain not provided [RCV000846119] Chr8:145603133..145695493 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*436G>A single nucleotide variant Holoprosencephaly sequence [RCV001160060] Chr8:144473802 [GRCh38]
Chr8:145699185 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_003923.3(FOXH1):c.*382C>T single nucleotide variant Holoprosencephaly sequence [RCV001161470] Chr8:144473856 [GRCh38]
Chr8:145699239 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*322C>A single nucleotide variant Holoprosencephaly sequence [RCV001161472] Chr8:144473916 [GRCh38]
Chr8:145699299 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*430G>A single nucleotide variant Holoprosencephaly sequence [RCV001160061] Chr8:144473808 [GRCh38]
Chr8:145699191 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_003923.3(FOXH1):c.*423G>A single nucleotide variant Holoprosencephaly sequence [RCV001161469] Chr8:144473815 [GRCh38]
Chr8:145699198 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*354C>T single nucleotide variant Holoprosencephaly sequence [RCV001161471] Chr8:144473884 [GRCh38]
Chr8:145699267 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003923.3(FOXH1):c.*233G>A single nucleotide variant Holoprosencephaly sequence [RCV001161473] Chr8:144474005 [GRCh38]
Chr8:145699388 [GRCh37]
Chr8:8q24.3
likely benign
NM_003923.3(FOXH1):c.*88A>G single nucleotide variant Holoprosencephaly sequence [RCV001161474] Chr8:144474150 [GRCh38]
Chr8:145699533 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29530 AgrOrtholog
COSMIC KIFC2 COSMIC
Ensembl Genes ENSG00000167702 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000301332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494595 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000496539 UniProtKB/TrEMBL
Ensembl Transcript ENST00000301332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642354 UniProtKB/TrEMBL
  ENST00000645548 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167702 GTEx
HGNC ID HGNC:29530 ENTREZGENE
Human Proteome Map KIFC2 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:90990 UniProtKB/Swiss-Prot
NCBI Gene 90990 ENTREZGENE
OMIM 615216 OMIM
PANTHER PTHR24115 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kinesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134874212 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 A0A2R8Y870_HUMAN UniProtKB/TrEMBL
  A0A2R8YEU8_HUMAN UniProtKB/TrEMBL
  KIFC2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96BU4_HUMAN UniProtKB/TrEMBL
UniProt Secondary E9PHB2 UniProtKB/Swiss-Prot
  Q96NN6 UniProtKB/Swiss-Prot