CLTC (clathrin heavy chain) - Rat Genome Database

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Gene: CLTC (clathrin heavy chain) Homo sapiens
Analyze
Symbol: CLTC
Name: clathrin heavy chain
RGD ID: 732795
HGNC Page HGNC
Description: Enables several functions, including clathrin light chain binding activity; disordered domain specific binding activity; and low-density lipoprotein particle receptor binding activity. Involved in several processes, including amyloid-beta clearance by transcytosis; negative regulation of hyaluronan biosynthetic process; and receptor-mediated endocytosis. Located in cytoplasmic vesicle; lysosome; and mitotic spindle microtubule. Part of clathrin complex. Implicated in autosomal dominant mental retardation 56.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHC; CHC17; clathrin heavy chain 1; clathrin heavy chain on chromosome 17; clathrin, heavy chain (Hc); clathrin, heavy polypeptide (Hc); clathrin, heavy polypeptide-like 2; CLH-17; CLTCL2; Hc; KIAA0034; MRD56
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 Ensembl1759,619,689 - 59,696,956 (+)EnsemblGRCh38hg38GRCh38
GRCh381759,619,895 - 59,696,956 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371757,697,256 - 57,774,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361755,051,832 - 55,129,099 (+)NCBINCBI36hg18NCBI36
Build 341755,052,037 - 55,127,254NCBI
Celera1754,160,824 - 54,238,068 (+)NCBI
Cytogenetic Map17q23.1NCBI
HuRef1753,069,465 - 53,146,980 (+)NCBIHuRef
CHM1_11757,762,115 - 57,839,338 (+)NCBICHM1_1
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
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-ethoxyethanol  (ISO)
2-methoxyethanol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsenous acid  (EXP)
benzene  (EXP)
bisphenol A  (ISO)
bleomycin A2  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
crocidolite asbestos  (EXP)
Deguelin  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
entacapone  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
gentamycin  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
nefazodone  (ISO)
nilotinib  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenobarbital  (ISO)
pyrogallol  (ISO)
rimonabant  (ISO)
rotenone  (EXP)
Salinomycin  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
succimer  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
tolcapone  (ISO)
tremolite asbestos  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal hippocampus morphology  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of vision  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral generalized polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Dilation of lateral ventricles  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Eyelid myoclonus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Focal emotional seizure with laughing  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal motor seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Leukoencephalopathy  (IAGP)
Limb hypertonia  (IAGP)
Long philtrum  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Oculogyric crisis  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Paraparesis  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Sleep disturbance  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Stereotypy  (IAGP)
Thin upper lip vermilion  (IAGP)
Tremor  (IAGP)
Typical absence seizure  (IAGP)
Unsteady gait  (IAGP)
Upslanted palpebral fissure  (IAGP)
Variable expressivity  (IAGP)
Widened subarachnoid space  (IAGP)
References

Additional References at PubMed
PMID:1587861   PMID:1589293   PMID:1765375   PMID:2154445   PMID:2406259   PMID:4066749   PMID:6147350   PMID:7584026   PMID:7584028   PMID:8276759   PMID:8733129   PMID:9169477  
PMID:9195986   PMID:9233772   PMID:9280305   PMID:9314527   PMID:9545220   PMID:9603201   PMID:9827808   PMID:10097102   PMID:10330411   PMID:10336464   PMID:10360576   PMID:10436022  
PMID:10477727   PMID:10567358   PMID:10692452   PMID:10748223   PMID:10862698   PMID:11031247   PMID:11157096   PMID:11252894   PMID:11278436   PMID:11301005   PMID:11387476   PMID:11423532  
PMID:11447109   PMID:11451993   PMID:11470803   PMID:11517213   PMID:11532964   PMID:11532990   PMID:11604514   PMID:11756460   PMID:11799118   PMID:11877451   PMID:11889126   PMID:11964161  
PMID:12057195   PMID:12105200   PMID:12163475   PMID:12202484   PMID:12221107   PMID:12237126   PMID:12426379   PMID:12429846   PMID:12477932   PMID:12519789   PMID:12538641   PMID:12589051  
PMID:12665801   PMID:12732633   PMID:12952941   PMID:12952949   PMID:12960147   PMID:14563850   PMID:14596919   PMID:14702039   PMID:14743216   PMID:14744259   PMID:14985334   PMID:15067034  
PMID:15133132   PMID:15161933   PMID:15302935   PMID:15324660   PMID:15383276   PMID:15489334   PMID:15533940   PMID:15657082   PMID:15659652   PMID:15758025   PMID:15858577   PMID:15917292  
PMID:16009940   PMID:16027165   PMID:16137687   PMID:16138905   PMID:16169070   PMID:16210410   PMID:16314522   PMID:16344560   PMID:16412388   PMID:16413285   PMID:16431367   PMID:16618797  
PMID:16709866   PMID:16716190   PMID:16902405   PMID:16903783   PMID:17052248   PMID:17081065   PMID:17140399   PMID:17220478   PMID:17255364   PMID:17267500   PMID:17307723   PMID:17344219  
PMID:17353931   PMID:17400507   PMID:17461779   PMID:17500595   PMID:17506864   PMID:17550971   PMID:17581864   PMID:17620599   PMID:17666399   PMID:17785434   PMID:17952123   PMID:18042253  
PMID:18247557   PMID:18363968   PMID:18457437   PMID:18524853   PMID:18548008   PMID:18602423   PMID:18614564   PMID:18656476   PMID:18977142   PMID:19056867   PMID:19135240   PMID:19199708  
PMID:19289168   PMID:19380743   PMID:19478182   PMID:19509056   PMID:19529763   PMID:19536138   PMID:19581412   PMID:19654208   PMID:19722700   PMID:19738201   PMID:19765186   PMID:19766654  
PMID:19786618   PMID:19793827   PMID:19798056   PMID:19805454   PMID:19859085   PMID:19913121   PMID:19946888   PMID:20065094   PMID:20360068   PMID:20448150   PMID:20458337   PMID:20498856  
PMID:20562859   PMID:20566684   PMID:20628086   PMID:20639872   PMID:20936779   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21182205   PMID:21266579   PMID:21289110   PMID:21291504  
PMID:21297582   PMID:21319273   PMID:21362119   PMID:21362503   PMID:21364927   PMID:21382013   PMID:21411634   PMID:21423176   PMID:21704113   PMID:21738476   PMID:21873635   PMID:21917865  
PMID:21956701   PMID:21965600   PMID:21988832   PMID:22010197   PMID:22268729   PMID:22321011   PMID:22323290   PMID:22335553   PMID:22496312   PMID:22558309   PMID:22586326   PMID:22623428  
PMID:22658674   PMID:22681889   PMID:22707565   PMID:22820750   PMID:22891263   PMID:22935703   PMID:22939629   PMID:22963397   PMID:22980331   PMID:22990118   PMID:23027611   PMID:23080069  
PMID:23125841   PMID:23184937   PMID:23222715   PMID:23228632   PMID:23236378   PMID:23246001   PMID:23304142   PMID:23376485   PMID:23398456   PMID:23402259   PMID:23414517   PMID:23509262  
PMID:23533145   PMID:23836884   PMID:23861900   PMID:23874206   PMID:23874603   PMID:23940042   PMID:23979707   PMID:24067654   PMID:24211445   PMID:24251095   PMID:24332808   PMID:24390425  
PMID:24407285   PMID:24457600   PMID:24591637   PMID:24625528   PMID:24639526   PMID:24705551   PMID:24711643   PMID:24769233   PMID:25107275   PMID:25144556   PMID:25147182   PMID:25180771  
PMID:25241761   PMID:25315684   PMID:25324306   PMID:25332235   PMID:25388970   PMID:25455218   PMID:25515538   PMID:25631092   PMID:25690657   PMID:25737280   PMID:25798074   PMID:25852190  
PMID:25860340   PMID:25898166   PMID:25900982   PMID:25921289   PMID:25963833   PMID:25982273   PMID:26005850   PMID:26136365   PMID:26209609   PMID:26217791   PMID:26344197   PMID:26485645  
PMID:26496610   PMID:26499835   PMID:26618866   PMID:26638075   PMID:26641092   PMID:26725010   PMID:26756164   PMID:26816005   PMID:26831064   PMID:26885983   PMID:26950368   PMID:26975582  
PMID:27025967   PMID:27142060   PMID:27377895   PMID:27405273   PMID:27462432   PMID:27503909   PMID:27519163   PMID:27545878   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27880917  
PMID:28261837   PMID:28302793   PMID:28378594   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28581483   PMID:28581508   PMID:28685749   PMID:28739485   PMID:28902428  
PMID:29097553   PMID:29162697   PMID:29180619   PMID:29229926   PMID:29360461   PMID:29395067   PMID:29467282   PMID:29491746   PMID:29507755   PMID:29509794   PMID:29511261   PMID:29568061  
PMID:29604273   PMID:29653964   PMID:29676528   PMID:29704455   PMID:29735542   PMID:29769406   PMID:29791485   PMID:29844126   PMID:29845934   PMID:29859926   PMID:29872149   PMID:29955894  
PMID:29973118   PMID:29991511   PMID:30021884   PMID:30097533   PMID:30154076   PMID:30196744   PMID:30209976   PMID:30258100   PMID:30455355   PMID:30462309   PMID:30463901   PMID:30559450  
PMID:30575818   PMID:30711629   PMID:30833792   PMID:30890647   PMID:30948266   PMID:31010829   PMID:31048545   PMID:31067453   PMID:31073040   PMID:31076515   PMID:31091453   PMID:31180492  
PMID:31239290   PMID:31253590   PMID:31300519   PMID:31316180   PMID:31470122   PMID:31501420   PMID:31562907   PMID:31577226   PMID:31586073   PMID:31620119   PMID:31634457   PMID:31672988  
PMID:31732153   PMID:31776469   PMID:31792442   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32269044   PMID:32552912   PMID:32694731   PMID:32780723   PMID:32786267   PMID:32807901  
PMID:32814769   PMID:32850835   PMID:32877691   PMID:32962859   PMID:33005030   PMID:33024031   PMID:33087446   PMID:33194618   PMID:33476648   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
CLTC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1759,619,689 - 59,696,956 (+)EnsemblGRCh38hg38GRCh38
GRCh381759,619,895 - 59,696,956 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371757,697,256 - 57,774,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361755,051,832 - 55,129,099 (+)NCBINCBI36hg18NCBI36
Build 341755,052,037 - 55,127,254NCBI
Celera1754,160,824 - 54,238,068 (+)NCBI
Cytogenetic Map17q23.1NCBI
HuRef1753,069,465 - 53,146,980 (+)NCBIHuRef
CHM1_11757,762,115 - 57,839,338 (+)NCBICHM1_1
Cltc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391186,585,178 - 86,648,637 (-)NCBIGRCm39mm39
GRCm39 Ensembl1186,585,177 - 86,648,391 (-)Ensembl
GRCm381186,694,352 - 86,757,567 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1186,694,351 - 86,757,565 (-)EnsemblGRCm38mm10GRCm38
MGSCv371186,508,155 - 86,570,994 (-)NCBIGRCm37mm9NCBIm37
MGSCv361186,510,848 - 86,573,687 (-)NCBImm8
Celera1196,310,083 - 96,376,089 (-)NCBICelera
Cytogenetic Map11CNCBI
Cltc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21071,517,661 - 71,574,591 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1071,517,663 - 71,573,737 (-)Ensembl
Rnor_6.01074,014,560 - 74,070,578 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1074,014,562 - 74,070,266 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01076,029,919 - 76,085,924 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41074,976,825 - 75,032,529 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11074,991,194 - 75,046,899 (-)NCBI
Celera1070,438,273 - 70,493,354 (-)NCBICelera
Cytogenetic Map10q26NCBI
Cltc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554513,380,304 - 3,445,973 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554513,380,304 - 3,445,973 (-)NCBIChiLan1.0ChiLan1.0
CLTC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11758,528,630 - 58,603,636 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1758,529,750 - 58,603,636 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01753,685,865 - 53,761,008 (+)NCBIMhudiblu_PPA_v0panPan3
CLTC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1934,116,344 - 34,183,023 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl934,116,634 - 34,182,719 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha933,348,834 - 33,415,377 (+)NCBI
ROS_Cfam_1.0934,925,162 - 34,993,363 (+)NCBI
UMICH_Zoey_3.1933,708,907 - 33,777,008 (+)NCBI
UNSW_CanFamBas_1.0933,995,028 - 34,063,165 (+)NCBI
UU_Cfam_GSD_1.0934,082,574 - 34,149,196 (+)NCBI
Cltc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560233,348,899 - 33,415,096 (+)NCBI
SpeTri2.0NW_0049364903,659,682 - 3,726,222 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLTC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,849,136 - 35,926,023 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,848,894 - 35,926,028 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21236,559,496 - 36,602,612 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21237,145,840 - 37,192,985 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLTC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11633,751,641 - 33,826,415 (-)NCBI
ChlSab1.1 Ensembl1633,752,556 - 33,799,102 (-)Ensembl
Vero_WHO_p1.0NW_0236660774,541,834 - 4,618,343 (-)NCBI
Cltc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248711,439,975 - 1,507,514 (+)NCBI

Position Markers
D17S2052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,771,643 - 57,771,992UniSTSGRCh37
Build 361755,126,425 - 55,126,774RGDNCBI36
Celera1754,235,396 - 54,235,745RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,144,309 - 53,144,658UniSTS
Whitehead-YAC Contig Map17 UniSTS
RH25272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,763,035 - 57,763,150UniSTSGRCh37
Build 361755,117,817 - 55,117,932RGDNCBI36
Celera1754,226,788 - 54,226,903RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,135,698 - 53,135,813UniSTS
GeneMap99-GB4 RH Map17376.25UniSTS
RH81083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,751,694 - 57,751,911UniSTSGRCh37
Build 361755,106,476 - 55,106,693RGDNCBI36
Celera1754,215,448 - 54,215,665RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,124,354 - 53,124,571UniSTS
G42242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,769,848 - 57,770,035UniSTSGRCh37
Build 361755,124,630 - 55,124,817RGDNCBI36
Celera1754,233,601 - 54,233,788RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,142,516 - 53,142,703UniSTS
G42377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,764,209 - 57,764,378UniSTSGRCh37
Build 361755,118,991 - 55,119,160RGDNCBI36
Celera1754,227,962 - 54,228,131RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,136,872 - 53,137,041UniSTS
G42611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,757,547 - 57,757,678UniSTSGRCh37
Build 361755,112,329 - 55,112,460RGDNCBI36
Celera1754,221,300 - 54,221,431RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,130,206 - 53,130,337UniSTS
SHGC-80819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,740,705 - 57,740,990UniSTSGRCh37
Build 361755,095,487 - 55,095,772RGDNCBI36
Celera1754,204,460 - 54,204,745RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,113,365 - 53,113,650UniSTS
TNG Radiation Hybrid Map1726070.0UniSTS
D17S1600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,759,068 - 57,759,179UniSTSGRCh37
Build 361755,113,850 - 55,113,961RGDNCBI36
Celera1754,222,821 - 54,222,932RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,131,727 - 53,131,838UniSTS
WI-19130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,771,659 - 57,771,925UniSTSGRCh37
Build 361755,126,441 - 55,126,707RGDNCBI36
Celera1754,235,412 - 54,235,678RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,144,325 - 53,144,591UniSTS
GeneMap99-GB4 RH Map16344.62UniSTS
Whitehead-RH Map16258.5UniSTS
NCBI RH Map16358.1UniSTS
SHGC-36454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,751,856 - 57,751,931UniSTSGRCh37
Build 361755,106,638 - 55,106,713RGDNCBI36
Celera1754,215,610 - 54,215,685RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,124,516 - 53,124,591UniSTS
Stanford-G3 RH Map172517.0UniSTS
GeneMap99-G3 RH Map173018.0UniSTS
WI-18090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,772,201 - 57,772,332UniSTSGRCh37
Build 361755,126,983 - 55,127,114RGDNCBI36
Celera1754,235,954 - 54,236,085RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,144,867 - 53,144,998UniSTS
GeneMap99-GB4 RH Map17377.38UniSTS
Whitehead-RH Map17432.9UniSTS
NCBI RH Map17665.5UniSTS
SGC30655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,772,344 - 57,772,444UniSTSGRCh37
Build 361755,127,126 - 55,127,226RGDNCBI36
Celera1754,236,097 - 54,236,197RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,145,010 - 53,145,110UniSTS
GeneMap99-GB4 RH Map17377.28UniSTS
Whitehead-RH Map17436.6UniSTS
RH46414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,696,001 - 57,696,131UniSTSGRCh37
Build 361755,050,783 - 55,050,913RGDNCBI36
Celera1754,159,775 - 54,159,905RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,068,416 - 53,068,546UniSTS
GeneMap99-GB4 RH Map17377.38UniSTS
RH11769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,771,869 - 57,772,000UniSTSGRCh37
Build 361755,126,651 - 55,126,782RGDNCBI36
Celera1754,235,622 - 54,235,753RGD
Cytogenetic Map17q11-qterUniSTS
HuRef1753,144,535 - 53,144,666UniSTS
GeneMap99-GB4 RH Map17305.25UniSTS
NCBI RH Map17473.9UniSTS
MARC_20665-20666:1025269998:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,724,950 - 57,725,672UniSTSGRCh37
Celera1754,188,709 - 54,189,431UniSTS
HuRef1753,097,614 - 53,098,336UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR99Ahsa-miR-99a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3023
Count of miRNA genes:1234
Interacting mature miRNAs:1569
Transcripts:ENST00000269122, ENST00000393043, ENST00000466513, ENST00000472129, ENST00000472651, ENST00000475458, ENST00000483176, ENST00000496076, ENST00000498711, ENST00000579456, ENST00000579815, ENST00000580081, ENST00000584313, ENST00000585198
Prediction methods:Microtar, Miranda, Pita, 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 2435 2729 1717 616 1809 458 4353 2081 3688 413 1451 1606 172 1203 2785 4
Low 4 262 9 8 142 7 4 116 46 6 9 6 3 1 1 3 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX473803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA248028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000269122   ⟹   ENSP00000269122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,619,895 - 59,696,956 (+)Ensembl
RefSeq Acc Id: ENST00000393043   ⟹   ENSP00000376763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,619,858 - 59,690,826 (+)Ensembl
RefSeq Acc Id: ENST00000466513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,664,690 - 59,667,066 (+)Ensembl
RefSeq Acc Id: ENST00000472129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,648,240 - 59,656,231 (+)Ensembl
RefSeq Acc Id: ENST00000472651   ⟹   ENSP00000465200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,683,906 - 59,693,822 (+)Ensembl
RefSeq Acc Id: ENST00000475458   ⟹   ENSP00000461977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,685,117 - 59,687,147 (+)Ensembl
RefSeq Acc Id: ENST00000483176   ⟹   ENSP00000463068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,655,961 - 59,663,992 (+)Ensembl
RefSeq Acc Id: ENST00000496076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,683,714 - 59,684,509 (+)Ensembl
RefSeq Acc Id: ENST00000498711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,689,156 - 59,695,112 (+)Ensembl
RefSeq Acc Id: ENST00000579456   ⟹   ENSP00000462252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,619,932 - 59,694,114 (+)Ensembl
RefSeq Acc Id: ENST00000579815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,670,982 - 59,677,141 (+)Ensembl
RefSeq Acc Id: ENST00000580081   ⟹   ENSP00000462592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,619,924 - 59,647,502 (+)Ensembl
RefSeq Acc Id: ENST00000584313   ⟹   ENSP00000463336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,619,943 - 59,651,316 (+)Ensembl
RefSeq Acc Id: ENST00000585198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,647,646 - 59,648,695 (+)Ensembl
RefSeq Acc Id: ENST00000621829   ⟹   ENSP00000479606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1759,619,689 - 59,696,956 (+)Ensembl
RefSeq Acc Id: NM_001288653   ⟹   NP_001275582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381759,619,895 - 59,696,956 (+)NCBI
HuRef1753,069,465 - 53,146,980 (+)NCBI
CHM1_11757,762,115 - 57,839,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004859   ⟹   NP_004850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381759,619,895 - 59,696,956 (+)NCBI
GRCh371757,697,050 - 57,774,317 (+)ENTREZGENE
GRCh371757,697,050 - 57,774,317 (+)NCBI
Build 361755,051,832 - 55,129,099 (+)NCBI Archive
HuRef1753,069,465 - 53,146,980 (+)ENTREZGENE
CHM1_11757,762,115 - 57,839,338 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004850   ⟸   NM_004859
- Peptide Label: isoform 1
- UniProtKB: Q00610 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275582   ⟸   NM_001288653
- Peptide Label: isoform 2
- UniProtKB: A0A087WVQ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000462592   ⟸   ENST00000580081
RefSeq Acc Id: ENSP00000479606   ⟸   ENST00000621829
RefSeq Acc Id: ENSP00000269122   ⟸   ENST00000269122
RefSeq Acc Id: ENSP00000463336   ⟸   ENST00000584313
RefSeq Acc Id: ENSP00000463068   ⟸   ENST00000483176
RefSeq Acc Id: ENSP00000376763   ⟸   ENST00000393043
RefSeq Acc Id: ENSP00000465200   ⟸   ENST00000472651
RefSeq Acc Id: ENSP00000462252   ⟸   ENST00000579456
RefSeq Acc Id: ENSP00000461977   ⟸   ENST00000475458
Protein Domains
Clathrin-link

Promoters
RGD ID:6793875
Promoter ID:HG_KWN:26719
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004859,   OTTHUMT00000258862,   UC002IXP.2,   UC002IXR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361755,051,481 - 55,052,027 (+)MPROMDB
RGD ID:6793876
Promoter ID:HG_KWN:26724
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000258867
Position:
Human AssemblyChrPosition (strand)Source
Build 361755,117,101 - 55,117,601 (+)MPROMDB
RGD ID:6793874
Promoter ID:HG_KWN:26725
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000258861
Position:
Human AssemblyChrPosition (strand)Source
Build 361755,122,049 - 55,122,549 (+)MPROMDB
RGD ID:7235855
Promoter ID:EPDNEW_H23673
Type:initiation region
Name:CLTC_2
Description:clathrin heavy chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23674  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381759,619,307 - 59,619,367EPDNEW
RGD ID:7235857
Promoter ID:EPDNEW_H23674
Type:initiation region
Name:CLTC_1
Description:clathrin heavy chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23673  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381759,619,905 - 59,619,965EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004859.4(CLTC):c.4568dup (p.Ser1524fs) duplication not provided [RCV000627655] Chr17:59685188..59685189 [GRCh38]
Chr17:57762549..57762550 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV000578214]|not provided [RCV001281635] Chr17:59677061 [GRCh38]
Chr17:57754422 [GRCh37]
Chr17:17q23.1
pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) microsatellite Inborn genetic diseases [RCV000190705]|Intellectual disability, autosomal dominant 56 [RCV000578213] Chr17:59677123..59677124 [GRCh38]
Chr17:57754484..57754485 [GRCh37]
Chr17:17q23.1
pathogenic|likely pathogenic
GRCh38/hg38 17q22-23.1(chr17:59481220-59756756)x1 copy number loss See cases [RCV000135625] Chr17:59481220..59756756 [GRCh38]
Chr17:57558581..57834117 [GRCh37]
Chr17:54913363..55188899 [NCBI36]
Chr17:17q22-23.1
likely pathogenic|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1 copy number loss See cases [RCV000140211] Chr17:57418806..59735464 [GRCh38]
Chr17:55496167..57812825 [GRCh37]
Chr17:52851166..55167607 [NCBI36]
Chr17:17q22-23.1
pathogenic
NM_004859.4(CLTC):c.4575dup (p.Glu1526fs) duplication Intellectual disability, autosomal dominant 56 [RCV000578217] Chr17:59685195..59685196 [GRCh38]
Chr17:57762556..57762557 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.977_980del (p.Ser326fs) deletion Intellectual disability, autosomal dominant 56 [RCV000578211] Chr17:59660396..59660399 [GRCh38]
Chr17:57737757..57737760 [GRCh37]
Chr17:17q23.1
pathogenic
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3
pathogenic
NM_004859.4(CLTC):c.4904-1G>A single nucleotide variant Inborn genetic diseases [RCV000623206] Chr17:59693727 [GRCh38]
Chr17:57771088 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.3137G>A (p.Arg1046His) single nucleotide variant Inborn genetic diseases [RCV000624624] Chr17:59681366 [GRCh38]
Chr17:57758727 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.3637GCT[1] (p.Ala1214del) microsatellite not provided [RCV000598613] Chr17:59682664..59682666 [GRCh38]
Chr17:57760025..57760027 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.3065+1G>A single nucleotide variant not provided [RCV000579309] Chr17:59681058 [GRCh38]
Chr17:57758419 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.2651_2652del (p.Ile884fs) deletion not provided [RCV000627660] Chr17:59677042..59677043 [GRCh38]
Chr17:57754403..57754404 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.2409T>G (p.Tyr803Ter) single nucleotide variant not provided [RCV000599379] Chr17:59673763 [GRCh38]
Chr17:57751124 [GRCh37]
Chr17:17q23.1
likely pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17q22-23.1(chr17:57070141-57752711)x3 copy number gain See cases [RCV000510335] Chr17:57070141..57752711 [GRCh37]
Chr17:17q22-23.1
uncertain significance
NM_004859.4(CLTC):c.769C>T (p.Gln257Ter) single nucleotide variant not provided [RCV000578851] Chr17:59651290 [GRCh38]
Chr17:57728651 [GRCh37]
Chr17:17q23.1
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) single nucleotide variant Inborn genetic diseases [RCV001265960]|Intellectual disability, autosomal dominant 56 [RCV000578210] Chr17:59685644 [GRCh38]
Chr17:57763005 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV000578218] Chr17:59681369 [GRCh38]
Chr17:57758730 [GRCh37]
Chr17:17q23.1
pathogenic
GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1 copy number loss See cases [RCV000511292] Chr17:56623275..60285107 [GRCh37]
Chr17:17q22-23.2
pathogenic
NM_004859.4(CLTC):c.2560A>T (p.Arg854Ter) single nucleotide variant not provided [RCV000578738] Chr17:59674842 [GRCh38]
Chr17:57752203 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.2050C>T (p.Gln684Ter) single nucleotide variant not provided [RCV000579377] Chr17:59666899 [GRCh38]
Chr17:57744260 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.3386_3388delinsAGCTTTGAT (p.Ile1129_Lys1130delinsLysLeuTer) indel not provided [RCV000627401] Chr17:59681783..59681785 [GRCh38]
Chr17:57759144..57759146 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.3766G>T (p.Val1256Phe) single nucleotide variant Inborn genetic diseases [RCV000622694] Chr17:59682907 [GRCh38]
Chr17:57760268 [GRCh37]
Chr17:17q23.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_004859.4(CLTC):c.4420G>T (p.Glu1474Ter) single nucleotide variant Inborn genetic diseases [RCV000624053] Chr17:59683971 [GRCh38]
Chr17:57761332 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.2204C>T (p.Ala735Val) single nucleotide variant Inborn genetic diseases [RCV000624429] Chr17:59668852 [GRCh38]
Chr17:57746213 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.2793_2794del (p.Asn932fs) deletion not provided [RCV000627661] Chr17:59677185..59677186 [GRCh38]
Chr17:57754546..57754547 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.2259C>A (p.Cys753Ter) single nucleotide variant not provided [RCV000657777] Chr17:59668907 [GRCh38]
Chr17:57746268 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.4388_4389del (p.Val1463fs) microsatellite Intellectual disability, autosomal dominant 56 [RCV000678270] Chr17:59683937..59683938 [GRCh38]
Chr17:57761298..57761299 [GRCh37]
Chr17:17q23.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_004859.4(CLTC):c.4237G>T (p.Glu1413Ter) single nucleotide variant not provided [RCV000760896] Chr17:59683670 [GRCh38]
Chr17:57761031 [GRCh37]
Chr17:17q23.1
likely pathogenic
GRCh37/hg19 17q22-23.1(chr17:57582867-58080569)x3 copy number gain not provided [RCV000752157] Chr17:57582867..58080569 [GRCh37]
Chr17:17q22-23.1
benign
NM_004859.4(CLTC):c.2797-9C>T single nucleotide variant not provided [RCV000969098] Chr17:59679388 [GRCh38]
Chr17:57756749 [GRCh37]
Chr17:17q23.1
benign
NM_004859.4(CLTC):c.609G>A (p.Gln203=) single nucleotide variant not provided [RCV000996590] Chr17:59648329 [GRCh38]
Chr17:57725690 [GRCh37]
Chr17:17q23.1
likely benign
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2
pathogenic
GRCh37/hg19 17q23.1(chr17:57718125-57762980)x1 copy number loss not provided [RCV000847310] Chr17:57718125..57762980 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV000850401] Chr17:59661470 [GRCh38]
Chr17:57738831 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.681+2dup duplication CLTC-Related Disorder [RCV000845033] Chr17:59648402..59648403 [GRCh38]
Chr17:57725763..57725764 [GRCh37]
Chr17:17q23.1
not provided
NM_004859.4(CLTC):c.1423del (p.Ala475fs) deletion not provided [RCV001091453] Chr17:59663895 [GRCh38]
Chr17:57741256 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.1460_1461del (p.Lys487fs) deletion not provided [RCV001009072] Chr17:59663932..59663933 [GRCh38]
Chr17:57741293..57741294 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV000989968] Chr17:59681783 [GRCh38]
Chr17:57759144 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs) deletion Intellectual disability, autosomal dominant 56 [RCV001250419] Chr17:59679426..59679427 [GRCh38]
Chr17:57756787..57756788 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.1775C>T (p.Ala592Val) single nucleotide variant not provided [RCV001200227] Chr17:59666233 [GRCh38]
Chr17:57743594 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) deletion Intellectual disability, autosomal dominant 56 [RCV001268959]|not provided [RCV000996591] Chr17:59673677..59673679 [GRCh38]
Chr17:57751038..57751040 [GRCh37]
Chr17:17q23.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV001199342] Chr17:59664857 [GRCh38]
Chr17:57742218 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.2737_2738del (p.Asp913fs) microsatellite not provided [RCV001008471] Chr17:59677124..59677125 [GRCh38]
Chr17:57754485..57754486 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.1307del (p.Cys436fs) deletion not provided [RCV001009038] Chr17:59661582 [GRCh38]
Chr17:57738943 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.2129-9T>C single nucleotide variant not provided [RCV000889797] Chr17:59668768 [GRCh38]
Chr17:57746129 [GRCh37]
Chr17:17q23.1
likely benign
NM_004859.4(CLTC):c.4426G>A (p.Asp1476Asn) single nucleotide variant not provided [RCV001551767] Chr17:59683977 [GRCh38]
Chr17:57761338 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.1133C>T (p.Ser378Leu) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV001563641] Chr17:59660554 [GRCh38]
Chr17:57737915 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.3514_3515del (p.Glu1172fs) deletion not provided [RCV001009018] Chr17:59682341..59682342 [GRCh38]
Chr17:57759702..57759703 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) indel Noonan syndrome 3 [RCV001264734] Chr17:59666609..59666613 [GRCh38]
Chr17:57743970..57743974 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs) deletion Intellectual disability, autosomal dominant 56 [RCV001264756] Chr17:59666569..59666570 [GRCh38]
Chr17:57743930..57743931 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV001262639]|not provided [RCV001008006] Chr17:59644420 [GRCh38]
Chr17:57721781 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.3354A>G (p.Lys1118=) single nucleotide variant not provided [RCV001531435] Chr17:59681751 [GRCh38]
Chr17:57759112 [GRCh37]
Chr17:17q23.1
likely benign
GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1 copy number loss not provided [RCV001006908] Chr17:57616400..57986918 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.2418+5G>A single nucleotide variant not provided [RCV001039523] Chr17:59673777 [GRCh38]
Chr17:57751138 [GRCh37]
Chr17:17q23.1
uncertain significance
NC_000017.11:g.59664787del deletion Intellectual disability, autosomal dominant 56 [RCV001001293] Chr17:59664786 [GRCh38]
Chr17:57742147 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.1843C>T (p.Gln615Ter) single nucleotide variant Inborn genetic diseases [RCV001266855] Chr17:59666540 [GRCh38]
Chr17:57743901 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.1761G>A (p.Met587Ile) single nucleotide variant Inborn genetic diseases [RCV001266768] Chr17:59666219 [GRCh38]
Chr17:57743580 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.4955del (p.Gln1652fs) deletion not provided [RCV001268348] Chr17:59693779 [GRCh38]
Chr17:57771140 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.469C>T (p.Arg157Cys) single nucleotide variant Inborn genetic diseases [RCV001265758] Chr17:59647616 [GRCh38]
Chr17:57724977 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.2332T>C (p.Cys778Arg) single nucleotide variant Inborn genetic diseases [RCV001265766] Chr17:59673686 [GRCh38]
Chr17:57751047 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.4366C>T (p.Gln1456Ter) single nucleotide variant Intellectual disability [RCV001260686] Chr17:59683917 [GRCh38]
Chr17:57761278 [GRCh37]
Chr17:17q23.1
uncertain significance
Single allele deletion Intellectual disability, autosomal dominant 56 [RCV001255606] Chr17:59679324..59702065 [GRCh38]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV001330546] Chr17:59661455 [GRCh38]
Chr17:57738816 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.4602C>G (p.Tyr1534Ter) single nucleotide variant Intellectual disability, autosomal dominant 56 [RCV001330547] Chr17:59685223 [GRCh38]
Chr17:57762584 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.4829_4830insAATGACTCTGT (p.Asp1611fs) insertion Intellectual disability, autosomal dominant 56 [RCV001292781] Chr17:59690635..59690636 [GRCh38]
Chr17:57767996..57767997 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.4481del (p.Ser1494fs) deletion See cases [RCV001420345] Chr17:59685102 [GRCh38]
Chr17:57762463 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.3611del (p.Arg1204fs) deletion Intellectual disability, autosomal dominant 56 [RCV001270397] Chr17:59682639 [GRCh38]
Chr17:57760000 [GRCh37]
Chr17:17q23.1
likely pathogenic
NM_004859.4(CLTC):c.2881C>G (p.Leu961Val) single nucleotide variant Global developmental delay [RCV001527636] Chr17:59679481 [GRCh38]
Chr17:57756842 [GRCh37]
Chr17:17q23.1
uncertain significance
NM_004859.4(CLTC):c.4192-4G>A single nucleotide variant not provided [RCV001440138] Chr17:59683621 [GRCh38]
Chr17:57760982 [GRCh37]
Chr17:17q23.1
likely benign
NM_004859.4(CLTC):c.4739A>G (p.Asp1580Gly) single nucleotide variant Abnormality of the corpus callosum [RCV001391273] Chr17:59685720 [GRCh38]
Chr17:57763081 [GRCh37]
Chr17:17q23.1
pathogenic
NM_004859.4(CLTC):c.2775A>G (p.Gln925=) single nucleotide variant not provided [RCV001510905] Chr17:59677167 [GRCh38]
Chr17:57754528 [GRCh37]
Chr17:17q23.1
benign
NM_004859.4(CLTC):c.1047G>C (p.Leu349=) single nucleotide variant not provided [RCV001516048] Chr17:59660468 [GRCh38]
Chr17:57737829 [GRCh37]
Chr17:17q23.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2092 AgrOrtholog
COSMIC CLTC COSMIC
Ensembl Genes ENSG00000141367 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000269122 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376763 UniProtKB/Swiss-Prot
  ENSP00000461977 UniProtKB/TrEMBL
  ENSP00000462252 UniProtKB/TrEMBL
  ENSP00000462592 UniProtKB/TrEMBL
  ENSP00000463068 UniProtKB/TrEMBL
  ENSP00000463336 UniProtKB/TrEMBL
  ENSP00000465200 UniProtKB/TrEMBL
  ENSP00000479606 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269122 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393043 UniProtKB/Swiss-Prot
  ENST00000472651 UniProtKB/TrEMBL
  ENST00000475458 UniProtKB/TrEMBL
  ENST00000483176 UniProtKB/TrEMBL
  ENST00000579456 UniProtKB/TrEMBL
  ENST00000580081 UniProtKB/TrEMBL
  ENST00000584313 UniProtKB/TrEMBL
  ENST00000621829 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141367 GTEx
HGNC ID HGNC:2092 ENTREZGENE
Human Proteome Map CLTC Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_H-chain/VPS_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_H-chain_linker_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_H-chain_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_H-chain_propeller_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_heavy_chain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1213 UniProtKB/Swiss-Prot
NCBI Gene 1213 ENTREZGENE
OMIM 118955 OMIM
  617854 OMIM
Pfam Clathrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin-link UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_propel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26618 PharmGKB
PIRSF Clathrin_H_chain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CHCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50989 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVQ6 ENTREZGENE, UniProtKB/TrEMBL
  CLH1_HUMAN UniProtKB/Swiss-Prot
  J3KRF5_HUMAN UniProtKB/TrEMBL
  J3KS13_HUMAN UniProtKB/TrEMBL
  J3KSQ2_HUMAN UniProtKB/TrEMBL
  J3KTN1_HUMAN UniProtKB/TrEMBL
  J3QL20_HUMAN UniProtKB/TrEMBL
  K7EJJ5_HUMAN UniProtKB/TrEMBL
  Q00610 ENTREZGENE
  Q49AL0_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DU00 UniProtKB/Swiss-Prot
  Q6N0A0 UniProtKB/Swiss-Prot
  Q86TF2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CLTC  clathrin heavy chain    clathrin, heavy chain (Hc)  Symbol and/or name change 5135510 APPROVED