methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

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Synonym

CL25022, chromosome 2 open reading frame 25, Protein C2orf25, mitochondrial precursor, HSPC161, My011, C2orf25

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:1.20 cerebellum:12.60 brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:- peripheral blood:- spleen:- thymus:- bone marrow:- adipose:- bone:- skin:-
GeneChip cerebrum:7.81 cerebellum:8.31 brain stem:8.02 corpus callosum/glia:7.76 pineal gland:- peripheral nerve:8.39 spine:8.01 retina:- eye:- artery/aorta:8.08 vein:8.58 lymphnode:8.62 peripheral blood:- spleen:8.56 thymus:9.26 bone marrow:9.04 adipose:8.83 bone:- skin:9.09
CAGE cerebrum:3.60 cerebellum:- brain stem:3.80 corpus callosum/glia:3.37 pineal gland:3.62 peripheral nerve:- spine:3.58 retina:- eye:- artery/aorta:4.00 vein:3.74 lymphnode:4.10 peripheral blood:- spleen:4.17 thymus:4.33 bone marrow:- adipose:4.38 bone:- skin:-
RNA-seq cerebrum:4.92 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:5.43 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:5.35 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:- placenta:- prostate:- ovary:- testis:- heart:- muscle:- esophagus:- stomach:- intestine:- colon:-     liver/hepato:-        lung:4.90    bladder:- kidney:52 pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:80 breast:- salivary:-
GeneChip uterus:9.07 placenta:8.95 prostate:9.54 ovary:9.09 testis:9.35 heart:8.86 muscle:9.97 esophagus:9.27 stomach:8.84 intestine:9.12 colon:8.50 liver/hepato:9.02 lung:8.58 bladder:- kidney:8.82 pituitary:8.26 thyroid/parathyroid:8.64 adrenal gland:8.83 pancreas:9.58 breast:8.99 salivary:9.58
CAGE uterus:4.20 placenta:4.31 prostate:4.36 ovary:3.96 testis:4.39 heart:4.13 muscle:4.21 esophagus:4.49 stomach:- intestine:4.34 colon:3.95     liver/hepato:5.01    lung:3.93 bladder:4.47 kidney:4.42 pituitary:4.28 thyroid/parathyroid:4.34 adrenal gland:- pancreas:4.40 breast:4.17 salivary:4.71
RNA-seq uterus:- placenta:- prostate:6.01 ovary:5.47 testis:5.88 heart:5.72 muscle:5.93 esophagus:- stomach:- intestine:- colon:5.88     liver/hepato:6.03        lung:5.28    bladder:- kidney:5.84 pituitary:- thyroid/parathyroid:5.81 adrenal gland:5.33 pancreas:- breast:5.79 salivary:-

Gene Information

IDs

Refseq ID NM_015702
Gene ID 27249
Unigene ID Hs.532401
Probe set ID 217883_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000168288
GTEx ID ENSG00000168288

Orthologous Gene

Mouse[1]  NM_133839
Rat [0]  

Chromosomal Region

2q23.2  [150,426,148  -  150,444,330]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

8619474
9110174
11042152
12477932
15489334
15815621
18187620
18385497
19913121
20301334
20301409
20301503
20628086
21071249
22156578
22832074
23270877
24124411
24250222

Gene Ontology  (GO ID)

Biological Process

GO:0009235  cobalamin metabolic process
GO:0006766  vitamin metabolic process
GO:0006767  water-soluble vitamin metabolic process

Cellular Component

GO:0005829  cytosol
GO:0005739  mitochondrion