Ellis van Creveld syndrome 2

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Synonym

LBN, Ellis van Creveld syndrome 2 (limbin), Limbin, EVC2

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:2.40 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:112.30 retina:- eye:29.40 artery/aorta:- vein:- lymphnode:30.30 peripheral blood:- spleen:18.90 thymus:- bone marrow:- adipose:- bone:12.80 skin:-
GeneChip nodata
CAGE cerebrum:0.63 cerebellum:- brain stem:0.97 corpus callosum/glia:0.94 pineal gland:1.39 peripheral nerve:- spine:1.12 retina:- eye:- artery/aorta:2.89 vein:1.98 lymphnode:2.08 peripheral blood:- spleen:1.74 thymus:0.88 bone marrow:- adipose:2.20 bone:- skin:-
RNA-seq cerebrum:0.08 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:1.69 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:1.24 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:9.10 placenta:- prostate:45.10 ovary:- testis:17.30 heart:12.80 muscle:- esophagus:- stomach:- intestine:- colon:-     liver/hepato:-        lung:-    bladder:- kidney:- pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:- breast:27.90 salivary:-
GeneChip nodata
CAGE uterus:3.00 placenta:1.14 prostate:2.55 ovary:2.82 testis:2.07 heart:1.99 muscle:1.04 esophagus:2.03 stomach:- intestine:1.33 colon:2.05     liver/hepato:0.96    lung:2.10 bladder:2.32 kidney:2.38 pituitary:1.54 thyroid/parathyroid:2.73 adrenal gland:- pancreas:1.98 breast:2.99 salivary:1.82
RNA-seq uterus:- placenta:- prostate:1.84 ovary:2.16 testis:1.56 heart:0.41 muscle:0.22 esophagus:- stomach:- intestine:- colon:1.41     liver/hepato:0.10        lung:0.66    bladder:- kidney:1.10 pituitary:- thyroid/parathyroid:1.58 adrenal gland:1.07 pancreas:- breast:0.92 salivary:-

Gene Information

IDs

Refseq ID NM_147127
Gene ID 132884
Unigene ID Hs.87306
Probe set ID -
Ensembl ID ENSG00000173040
GTEx ID ENSG00000173040

Orthologous Gene

Mouse[1]  NM_145920
Rat [0]  

Chromosomal Region

4p16.2  [5,544,499  -  5,711,275]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

11076863
12136126
12468274
12477932
12571802
15231748
16404586
17024374
17547743
18454448
19251731
19759913
19810119
20087401
20184732
20301743
21199751
21533779
21815252
23026208
23169490
23220543

Gene Ontology  (GO ID)

Biological Process

GO:0007224  smoothened signaling pathway

Cellular Component

GO:0005929  cilium
GO:0060170  cilium membrane
GO:0005737  cytoplasm
GO:0016021  integral to membrane
GO:0005932  microtubule basal body
GO:0005634  nucleus