AutismKB 2.0

Annotation Detail for KCNK12


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Basic Information Top
Gene Symbol:KCNK12 ( THIK-2,THIK2 )
Gene Full Name: potassium channel, subfamily K, member 12
Band: 2p16.3
Quick LinksEntrez ID:56660; OMIM: 607366; Uniprot ID:KCNKC_HUMAN; ENSEMBL ID: ENSG00000184261; HGNC ID: 6274
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst1 / 6231916
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult14 / 19391217
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma17 / 71755236
non-neoplasia0 / 972500 
normal23 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph11 / 44270248
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220448_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.25
Adipocyte5.3
AdrenalCortex5.7
Adrenalgland4.6
Amygdala19.9
Appendix5.45
AtrioventricularNode4.35
BDCA4+_DentriticCells5.65
Bonemarrow5.7
BronchialEpithelialCells5.2
CD105+_Endothelial5.45
CD14+_Monocytes5.7
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid6.7
CD34+6.95
CD4+_Tcells6
CD56+_NKCells6.55
CD71+_EarlyErythroid5.05
CD8+_Tcells5
CardiacMyocytes7.2
Caudatenucleus4.9
Cerebellum16.7
CerebellumPeduncles10.7
CiliaryGanglion3.9
CingulateCortex7.65
Colorectaladenocarcinoma5.4
DorsalRootGanglion4.9
FetalThyroid5.2
Fetalbrain5.55
Fetalliver4.65
Fetallung4.2
GlobusPallidus5.3
Heart7.35
Hypothalamus6.1
Kidney4.35
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.25
Liver7.25
Lung6
Lymphnode4.6
Lymphoma_burkitts(Daudi)10.2
Lymphoma_burkitts(Raji)30.55
MedullaOblongata5.1
OccipitalLobe4.95
OlfactoryBulb388.2
Ovary3.6
Pancreas4.35
PancreaticIslet5.85
ParietalLobe6.1
Pituitary6.45
Placenta5.7
Pons5.25
PrefrontalCortex8.3
Prostate6.35
Salivarygland4.3
SkeletalMuscle6.05
Skin4.15
SmoothMuscle6
Spinalcord19.95
SubthalamicNucleus5.15
SuperiorCervicalGanglion6.2
TemporalLobe6.2
Testis4.8
TestisGermCell4.4
TestisIntersitial4.5
TestisLeydigCell5.3
TestisSeminiferousTubule4.75
Thalamus5.55
Thymus4.15
Thyroid6.65
Tongue5.3
Tonsil5.35
Trachea4.65
TrigeminalGanglion6.4
Uterus4.5
UterusCorpus5
WholeBlood5.85
Wholebrain29.6
colon5.55
pineal_day12
pineal_night12.68
retina6.75
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6477_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.92 ± 0.78
Basal Forebrain4.13 ± 0.65
Basal Part of Pons4.9 ± 0.5
Cerebellar Cortex5.06 ± 0.46
Cerebellar Nuclei4.69 ± 0.51
Claustrum4.77 ± 0.82
Epithalamus4.58 ± 0.44
Frontal Lobe4.78 ± 0.55
Globus Pallidus4.32 ± 0.72
Hypothalamus4.28 ± 0.41
Insula4.93 ± 0.73
Limbic Lobe4.68 ± 0.6
Mesencephalon4.86 ± 0.68
Myelencephalon4.71 ± 0.63
Occipital Lobe4.74 ± 0.59
Parietal Lobe4.84 ± 0.53
Pontine Tegmentum4.59 ± 0.63
Striatum4.07 ± 0.86
Subthalamus4.19 ± 0.36
Temporal Lobe4.77 ± 0.55
Thalamus4.74 ± 0.56
White Matter4.32 ± 0.24
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KCNKC_HUMAN_114 30 114 143 WDFPGAFYFVGTVVSTIGFGMTTPATVGGK PRIDE
KCNKC_HUMAN_187 9 187 195 SGLLPATFR PRIDE
KCNKC_HUMAN_304 8 304 311 QVLNWMLR PRIDE
KCNKC_HUMAN_345 18 345 362 LAALGADPAARDSDAEGR PRIDE
KCNKC_HUMAN_388 11 388 398 QLSETANGYPR PRIDE
KCNKC_HUMAN_5 7 5 11 SPRPPPR PRIDE

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018