ALAS2 | OmnibusX

Name	Number of supported studies	Average coverage
erythrocyte	17 studies	62% ± 21%	Explore
erythroblast	5 studies	64% ± 29%	Explore

sc-RNAseq data

Insufficient scRNA-seq data for expression of ALAS2 at tissue level.

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
kidney	73%	179.83	65 / 89	26%	1.99	230 / 901
spleen	98%	2012.25	236 / 241	0%	0	0 / 0
lung	81%	430.56	468 / 578	5%	0.13	63 / 1155
peripheral blood	84%	48664.07	780 / 929	0%	0	0 / 0
liver	66%	139.39	149 / 226	4%	0.17	16 / 406
brain	42%	47.15	1097 / 2642	16%	0.73	113 / 705
thymus	51%	112.00	332 / 653	3%	0.06	19 / 605
heart	52%	111.43	444 / 861	0%	0	0 / 0
adipose	49%	100.55	589 / 1204	0%	0	0 / 0
breast	38%	51.04	175 / 459	2%	0.05	23 / 1118
blood vessel	32%	59.69	421 / 1335	0%	0	0 / 0
uterus	25%	25.35	43 / 170	6%	0.23	26 / 459
adrenal gland	17%	19.03	45 / 258	12%	1.17	27 / 230
ovary	17%	28.23	31 / 180	10%	0.20	42 / 430
esophagus	23%	37.70	331 / 1445	4%	0.16	7 / 183
prostate	24%	21.34	59 / 245	1%	0.02	6 / 502
muscle	24%	20.13	195 / 803	0%	0	0 / 0
intestine	15%	18.42	147 / 966	5%	0.20	27 / 527
stomach	12%	11.73	44 / 359	8%	0.21	22 / 286
pancreas	11%	6.64	36 / 328	6%	0.26	11 / 178
bladder	10%	7.05	2 / 21	4%	0.09	22 / 504
skin	9%	5.91	154 / 1809	2%	0.17	8 / 472
lymph node	0%	0	0 / 0	3%	0.04	1 / 29
eye	0%	0	0 / 0	1%	0.03	1 / 80
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
tonsil	0%	0	0 / 0	0%	0	0 / 45
ureter	0%	0	0 / 0	0%	0	0 / 1

GO_0030218	Biological process	erythrocyte differentiation
GO_0032364	Biological process	intracellular oxygen homeostasis
GO_0006782	Biological process	protoporphyrinogen IX biosynthetic process
GO_0048821	Biological process	erythrocyte development
GO_0006783	Biological process	heme biosynthetic process
GO_0006879	Biological process	intracellular iron ion homeostasis
GO_0001666	Biological process	response to hypoxia
GO_0042541	Biological process	hemoglobin biosynthetic process
GO_0005759	Cellular component	mitochondrial matrix
GO_0005743	Cellular component	mitochondrial inner membrane
GO_0005739	Cellular component	mitochondrion
GO_0005515	Molecular function	protein binding
GO_0030170	Molecular function	pyridoxal phosphate binding
GO_0003870	Molecular function	5-aminolevulinate synthase activity

Gene name	ALAS2
Protein name	5-aminolevulinate synthase 2 5-aminolevulinate synthase, erythroid-specific, mitochondrial (EC 2.3.1.37) (5-aminolevulinic acid synthase 2) (Delta-ALA synthase 2) (Delta-aminolevulinate synthase 2) 5'-aminolevulinate synthase 2 5-aminoevulinate synthase 2 5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS-E) (EC 2.3.1.37) (5-aminolevulinic acid synthase 2) (Delta-ALA synthase 2) (Delta-aminolevulinate synthase 2)
Synonyms	ALASE ASB
Description	FUNCTION: Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products . Contributes significantly to heme formation during erythropoiesis . .; FUNCTION: [Isoform 3]: Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products . Catalytic activity is 75-85% of isoform 1 activity . .; FUNCTION: [Isoform 4]: Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products . Catalytic activity is 65-75% of isoform 1 activity . .
Accessions	A0A2R8Y6N3 A0A2R8Y782 P22557 ENST00000498636.1 A0A2R8Y6R4 H0Y6R3 Q6QNT2 ENST00000650242.1 [P22557-1] ENST00000396198.7 [P22557-4] ENST00000477869.6 ENST00000644983.1 Q86YM3 ENST00000493869.2 ENST00000455688.2 A0A2R8Y836 ENST00000335854.8 [P22557-2]

ALAS2 report