Leber congenital amaurosis 5

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Synonym

C6orf152, chromosome 6 open reading frame 152, Protein C6orf152

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:17.80 cerebellum:- brain stem:- corpus callosum/glia:29.20 pineal gland:148.30 peripheral nerve:- spine:- retina:118.60 eye:17.60 artery/aorta:30 vein:- lymphnode:10.10 peripheral blood:- spleen:18.90 thymus:12.90 bone marrow:- adipose:- bone:- skin:-
GeneChip nodata
CAGE cerebrum:2.71 cerebellum:- brain stem:2.89 corpus callosum/glia:2.62 pineal gland:3.11 peripheral nerve:- spine:3.07 retina:- eye:- artery/aorta:2.61 vein:1.49 lymphnode:1.47 peripheral blood:- spleen:1.77 thymus:0.91 bone marrow:- adipose:2.22 bone:- skin:-
RNA-seq cerebrum:2.50 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:1.25 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:1.49 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:9.10 placenta:18.20 prostate:- ovary:- testis:21.60 heart:- muscle:- esophagus:- stomach:- intestine:- colon:-     liver/hepato:-        lung:14.70    bladder:- kidney:31.20 pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:53.30 breast:18.60 salivary:-
GeneChip nodata
CAGE uterus:2.85 placenta:2.05 prostate:2.86 ovary:2.99 testis:2.84 heart:2.02 muscle:1.64 esophagus:2.09 stomach:- intestine:1.41 colon:1.35     liver/hepato:1.01    lung:2.58 bladder:2.80 kidney:1.98 pituitary:2.83 thyroid/parathyroid:3.21 adrenal gland:- pancreas:1.59 breast:2.27 salivary:2.46
RNA-seq uterus:- placenta:- prostate:2.41 ovary:2.83 testis:2.94 heart:0.85 muscle:0.86 esophagus:- stomach:- intestine:- colon:2.01     liver/hepato:0.36        lung:2.43    bladder:- kidney:1.72 pituitary:- thyroid/parathyroid:2.13 adrenal gland:1.17 pancreas:- breast:1.34 salivary:-

Gene Information

IDs

Refseq ID NM_001122769
Gene ID 167691
Unigene ID Hs.21945
Probe set ID -
Ensembl ID ENSG00000135338
GTEx ID ENSG00000135338

Orthologous Gene

Mouse[2]  NM_027448, NM_029434
Rat[1]  NM_001013954, NM_029434

Chromosomal Region

6q14.1  [80,194,708  -  80,247,175]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

8889548
10631161
12477932
12642313
14574404
15489334
16082399
17546029
18000884
18334959
19172513
19503738
19800048
20301475
21302353
21850168
23509613
23602568
23946133
24144451

Gene Ontology  (GO ID)

Biological Process

GO:0042073  intraflagellar transport
GO:0045494  photoreceptor cell maintenance
GO:0015031  protein transport

Cellular Component

GO:0005929  cilium
GO:0035085  cilium axoneme
GO:0005932  microtubule basal body

Molecular Function

GO:0005515  protein binding
GO:0032403  protein complex binding