MMADHC | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
natural killer cell	24 studies	24% ± 6%	Explore
CD4-positive, alpha-beta T cell	19 studies	26% ± 10%	Explore
B cell	18 studies	22% ± 7%	Explore
CD8-positive, alpha-beta T cell	17 studies	27% ± 10%	Explore
fibroblast	17 studies	29% ± 10%	Explore
endothelial cell	16 studies	28% ± 12%	Explore
regulatory T cell	16 studies	26% ± 8%	Explore
smooth muscle cell	14 studies	24% ± 7%	Explore
epithelial cell	13 studies	35% ± 19%	Explore
memory B cell	13 studies	20% ± 5%	Explore
T cell	12 studies	24% ± 7%	Explore
basal cell	12 studies	31% ± 14%	Explore
conventional dendritic cell	12 studies	25% ± 12%	Explore
macrophage	12 studies	24% ± 7%	Explore
pericyte	12 studies	24% ± 8%	Explore
gamma-delta T cell	12 studies	23% ± 13%	Explore
plasma cell	11 studies	29% ± 12%	Explore
CD16-positive, CD56-dim natural killer cell, human	11 studies	23% ± 5%	Explore
plasmacytoid dendritic cell	11 studies	27% ± 8%	Explore
ciliated cell	10 studies	35% ± 13%	Explore
CD16-negative, CD56-bright natural killer cell, human	10 studies	23% ± 4%	Explore
naive thymus-derived CD4-positive, alpha-beta T cell	10 studies	19% ± 4%	Explore
naive thymus-derived CD8-positive, alpha-beta T cell	10 studies	22% ± 5%	Explore
naive B cell	10 studies	20% ± 5%	Explore
mature NK T cell	9 studies	19% ± 3%	Explore
non-classical monocyte	9 studies	22% ± 9%	Explore
connective tissue cell	9 studies	27% ± 6%	Explore
mucosal invariant T cell	9 studies	19% ± 3%	Explore
plasmablast	8 studies	40% ± 24%	Explore
CD4-positive, alpha-beta memory T cell	8 studies	27% ± 9%	Explore
CD8-positive, alpha-beta memory T cell	8 studies	27% ± 13%	Explore
endothelial cell of vascular tree	8 studies	22% ± 6%	Explore
secretory cell	7 studies	30% ± 10%	Explore
myofibroblast cell	7 studies	27% ± 3%	Explore
abnormal cell	7 studies	24% ± 6%	Explore
capillary endothelial cell	6 studies	20% ± 5%	Explore
epithelial cell of proximal tubule	6 studies	21% ± 4%	Explore
goblet cell	6 studies	26% ± 11%	Explore
innate lymphoid cell	6 studies	19% ± 3%	Explore
T follicular helper cell	6 studies	20% ± 2%	Explore
classical monocyte	5 studies	24% ± 4%	Explore
effector memory CD8-positive, alpha-beta T cell	5 studies	23% ± 3%	Explore
endothelial cell of artery	5 studies	18% ± 3%	Explore
hematopoietic stem cell	5 studies	28% ± 7%	Explore
precursor B cell	5 studies	30% ± 11%	Explore
pro-B cell	5 studies	28% ± 4%	Explore
myeloid cell	5 studies	23% ± 9%	Explore
endothelial cell of lymphatic vessel	5 studies	25% ± 6%	Explore
effector CD8-positive, alpha-beta T cell	5 studies	34% ± 12%	Explore
hematopoietic precursor cell	4 studies	37% ± 9%	Explore
club cell	4 studies	29% ± 7%	Explore
pancreatic A cell	4 studies	35% ± 12%	Explore
exhausted T cell	4 studies	31% ± 9%	Explore
kidney loop of Henle epithelial cell	4 studies	22% ± 3%	Explore
progenitor cell	4 studies	20% ± 3%	Explore
mesothelial cell	4 studies	39% ± 15%	Explore
erythroblast	4 studies	44% ± 18%	Explore
enterocyte	4 studies	17% ± 2%	Explore
immature B cell	4 studies	22% ± 6%	Explore
monocyte	4 studies	20% ± 5%	Explore
neuron	4 studies	27% ± 15%	Explore
effector CD4-positive, alpha-beta T cell	4 studies	36% ± 7%	Explore
glutamatergic neuron	4 studies	28% ± 7%	Explore
dendritic cell	4 studies	40% ± 20%	Explore
effector memory CD4-positive, alpha-beta T cell	4 studies	30% ± 10%	Explore
oligodendrocyte precursor cell	4 studies	22% ± 5%	Explore
squamous epithelial cell	3 studies	40% ± 24%	Explore
type B pancreatic cell	3 studies	42% ± 1%	Explore
kidney distal convoluted tubule epithelial cell	3 studies	20% ± 3%	Explore
leukocyte	3 studies	23% ± 7%	Explore
neural crest cell	3 studies	18% ± 2%	Explore
vein endothelial cell	3 studies	18% ± 1%	Explore
type II pneumocyte	3 studies	27% ± 14%	Explore
germinal center B cell	3 studies	31% ± 6%	Explore
intermediate monocyte	3 studies	27% ± 12%	Explore
GABAergic neuron	3 studies	28% ± 1%	Explore
pancreatic ductal cell	3 studies	45% ± 13%	Explore
megakaryocyte-erythroid progenitor cell	3 studies	37% ± 30%	Explore
enteroendocrine cell	3 studies	32% ± 15%	Explore
erythrocyte	3 studies	41% ± 18%	Explore
group 3 innate lymphoid cell	3 studies	27% ± 9%	Explore
T-helper 1 cell	3 studies	27% ± 8%	Explore
mast cell	3 studies	19% ± 2%	Explore
effector memory CD8-positive, alpha-beta T cell, terminally differentiated	3 studies	19% ± 4%	Explore
double negative thymocyte	3 studies	34% ± 15%	Explore
hepatocyte	3 studies	34% ± 20%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
peripheral blood	13 studies	22% ± 5%	Explore
lung	10 studies	29% ± 10%	Explore
kidney	7 studies	19% ± 2%	Explore
intestine	6 studies	23% ± 10%	Explore
pancreas	4 studies	37% ± 12%	Explore
bone marrow	4 studies	20% ± 2%	Explore
lymph node	4 studies	20% ± 3%	Explore
brain	4 studies	24% ± 4%	Explore
liver	3 studies	34% ± 25%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
esophagus	100%	4006.73	1445 / 1445	100%	116.77	183 / 183
ovary	100%	3084.98	180 / 180	100%	112.94	430 / 430
breast	100%	3820.14	459 / 459	100%	133.68	1116 / 1118
liver	100%	3589.30	226 / 226	100%	86.36	405 / 406
pancreas	100%	3029.84	327 / 328	100%	98.62	178 / 178
lung	100%	3084.76	576 / 578	100%	124.19	1155 / 1155
stomach	100%	3324.41	359 / 359	100%	111.76	285 / 286
intestine	100%	3618.67	966 / 966	100%	122.08	525 / 527
bladder	100%	3590.76	21 / 21	100%	114.74	502 / 504
prostate	100%	3230.00	244 / 245	100%	138.99	501 / 502
uterus	100%	3309.25	170 / 170	99%	122.86	456 / 459
thymus	100%	2571.91	652 / 653	99%	91.47	601 / 605
skin	100%	4652.33	1809 / 1809	99%	109.72	468 / 472
kidney	100%	3093.45	89 / 89	98%	92.90	883 / 901
brain	97%	1654.80	2551 / 2642	100%	79.02	704 / 705
adrenal gland	100%	3779.69	258 / 258	95%	71.24	218 / 230
adipose	100%	3638.12	1204 / 1204	0%	0	0 / 0
blood vessel	100%	4541.41	1335 / 1335	0%	0	0 / 0
lymph node	0%	0	0 / 0	100%	113.29	29 / 29
muscle	100%	7079.23	803 / 803	0%	0	0 / 0
spleen	100%	3270.65	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	122.46	45 / 45
ureter	0%	0	0 / 0	100%	34.41	1 / 1
eye	0%	0	0 / 0	98%	82.60	78 / 80
peripheral blood	96%	4331.54	893 / 929	0%	0	0 / 0
heart	96%	3387.40	826 / 861	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

IV. Literature review

[source]

Gene name	MMADHC
Protein name	Metabolism of cobalamin associated D Cobalamin trafficking protein CblD (CblD) (Methylmalonic aciduria and homocystinuria type D protein, mitochondrial)
Synonyms	HSPC161 CL25022 C2orf25 My011
Description	FUNCTION: Involved in cobalamin metabolism and trafficking . Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) . Promotes oxidation of cob(II)alamin bound to MMACHC . The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine . .
Accessions	F8WEC0 Q9H3L0 ENST00000303319.10 ENST00000422782.2 ENST00000428879.5

GO_0009235	Biological process	cobalamin metabolic process
GO_0005829	Cellular component	cytosol
GO_0005737	Cellular component	cytoplasm
GO_0005739	Cellular component	mitochondrion
GO_0005515	Molecular function	protein binding

MMADHC report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review