Tissue expression of ALAS2 - Summary - The Human Protein Atlas

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ALAS2

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	ALAS2
Gene description	5'-aminolevulinate synthase 2
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (bone marrow)
GTEx:	Group enriched (lung, spleen)
FANTOM5:	Tissue enhanced (placenta)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in subsets of hematopoietic cells.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.
Reliability score	Approved based on 1 antibody. HPA001638
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (bone marrow)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Group enriched (lung, spleen)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (placenta)

GENE INFORMATION
Gene name	ALAS2 (HGNC Symbol)
Synonyms	ASB
Description	5'-aminolevulinate synthase 2 (HGNC Symbol)
Entrez gene summary	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Chromosome	X
Cytoband	p11.21
Chromosome location (bp)	55009055 - 55031064
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000158578 (version 83.38)
Entrez gene	212
UniProt	P22557 (UniProt - Evidence at protein level)
neXtProt	NX_P22557
Antibodypedia	ALAS2 antibodies

PROTEIN BROWSER

ALAS2-004	ALAS2-006	ALAS2-007	ALAS2-008

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ALAS2-004 ENSP00000407204 ENST00000455688	H0Y6R3 [Direct mapping] 5-aminolevulinate synthase, erythroid-specific, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Show all	GO:0003870 [5-aminolevulinate synthase activity] GO:0005759 [mitochondrial matrix] GO:0006778 [porphyrin-containing compound metabolic process] GO:0009058 [biosynthetic process] GO:0030170 [pyridoxal phosphate binding] Show all	222 aa 24.8 kDa	No	0
ALAS2-006 ENSP00000332369 ENST00000330807	P22557 [Direct mapping] 5-aminolevulinate synthase, erythroid-specific, mitochondrial Show all	Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0001666 [response to hypoxia] GO:0003870 [5-aminolevulinate synthase activity] GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0005759 [mitochondrial matrix] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0006879 [cellular iron ion homeostasis] GO:0008152 [metabolic process] GO:0009058 [biosynthetic process] GO:0016594 [glycine binding] GO:0016740 [transferase activity] GO:0030170 [pyridoxal phosphate binding] GO:0030218 [erythrocyte differentiation] GO:0032364 [oxygen homeostasis] GO:0033014 [tetrapyrrole biosynthetic process] GO:0042541 [hemoglobin biosynthetic process] GO:0044281 [small molecule metabolic process] GO:0050662 [coenzyme binding] Show all	587 aa 64.6 kDa	Yes	0
ALAS2-007 ENSP00000379501 ENST00000396198	P22557 [Direct mapping] 5-aminolevulinate synthase, erythroid-specific, mitochondrial Show all	Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0001666 [response to hypoxia] GO:0003870 [5-aminolevulinate synthase activity] GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0005759 [mitochondrial matrix] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0006879 [cellular iron ion homeostasis] GO:0008152 [metabolic process] GO:0009058 [biosynthetic process] GO:0016594 [glycine binding] GO:0016740 [transferase activity] GO:0030170 [pyridoxal phosphate binding] GO:0030218 [erythrocyte differentiation] GO:0032364 [oxygen homeostasis] GO:0033014 [tetrapyrrole biosynthetic process] GO:0042541 [hemoglobin biosynthetic process] GO:0044281 [small molecule metabolic process] GO:0050662 [coenzyme binding] Show all	574 aa 63.5 kDa	Yes	0
ALAS2-008 ENSP00000337131 ENST00000335854	P22557 [Direct mapping] 5-aminolevulinate synthase, erythroid-specific, mitochondrial Show all	Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0001666 [response to hypoxia] GO:0003870 [5-aminolevulinate synthase activity] GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0005759 [mitochondrial matrix] GO:0006778 [porphyrin-containing compound metabolic process] GO:0006782 [protoporphyrinogen IX biosynthetic process] GO:0006783 [heme biosynthetic process] GO:0006879 [cellular iron ion homeostasis] GO:0008152 [metabolic process] GO:0009058 [biosynthetic process] GO:0016594 [glycine binding] GO:0016740 [transferase activity] GO:0030170 [pyridoxal phosphate binding] GO:0030218 [erythrocyte differentiation] GO:0032364 [oxygen homeostasis] GO:0033014 [tetrapyrrole biosynthetic process] GO:0042541 [hemoglobin biosynthetic process] GO:0044281 [small molecule metabolic process] GO:0050662 [coenzyme binding] Show all	550 aa 60.6 kDa	Yes	0

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