SPTA1

Summary

SPTA1 (spectrin alpha, erythrocytic 1, HGNC:11272) is a protein-coding gene on chromosome 1q23.1, encoding Spectrin alpha chain, erythrocytic 1 (P02549). Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane.

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3.

Source: NCBI Gene 6708 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary spherocytosis type 3 (Definitive, GenCC) — +4 more curated relationships
• GWAS associations: 83
• Clinical variants (ClinVar): 1,531 total — 66 pathogenic, 109 likely-pathogenic
• Phenotypes (HPO): 44
• MANE Select transcript: NM_003126

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11272
Approved symbol	SPTA1
Name	spectrin alpha, erythrocytic 1
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Aliases	EL2
Ensembl gene	ENSG00000163554
Ensembl biotype	protein_coding
OMIM	182860
Entrez	6708

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 retained_intron, 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000461624, ENST00000465741, ENST00000481212, ENST00000484520, ENST00000485680, ENST00000492934, ENST00000498708, ENST00000643759, ENST00000647256

RefSeq mRNA: 1 — MANE Select: NM_003126 NM_003126

CCDS: CCDS41423

Canonical transcript exons

ENST00000643759 — 52 exons

Exon	Start	End
ENSE00001075888	158622983	158623192
ENSE00001075889	158645495	158645594
ENSE00001075891	158649856	158649947
ENSE00001075892	158654611	158654748
ENSE00001075895	158662702	158662945
ENSE00001075897	158685108	158685347
ENSE00001075899	158643322	158643425
ENSE00001075901	158648509	158648653
ENSE00001075904	158669408	158669563
ENSE00001075906	158652467	158652653
ENSE00001075907	158677690	158677834
ENSE00001075908	158667858	158668062
ENSE00001075911	158642814	158642976
ENSE00001075914	158634543	158634675
ENSE00001075916	158674540	158674675
ENSE00001075921	158619222	158619334
ENSE00001075924	158651367	158651468
ENSE00001075925	158681527	158681667
ENSE00001075927	158672059	158672196
ENSE00001075931	158639582	158639686
ENSE00001075935	158680583	158680729
ENSE00001075939	158661287	158661409
ENSE00001075941	158645188	158645385
ENSE00001075943	158683371	158683496
ENSE00001075947	158638033	158638241
ENSE00001075949	158644253	158644396
ENSE00001075951	158657477	158657694
ENSE00001075954	158653274	158653425
ENSE00001075956	158676141	158676295
ENSE00001075959	158636641	158636761
ENSE00001075963	158612817	158612961
ENSE00001075965	158642411	158642542
ENSE00001075967	158656564	158656656
ENSE00001075969	158669709	158669786
ENSE00001075970	158635913	158636034
ENSE00001075971	158620170	158620466
ENSE00001075972	158674329	158674430
ENSE00001075973	158647539	158647720
ENSE00001075974	158666316	158666497
ENSE00001446421	158626839	158627007
ENSE00001446423	158610704	158611389
ENSE00001659491	158671343	158671453
ENSE00001832787	158686494	158686715
ENSE00002340408	158618039	158618056
ENSE00003479963	158617537	158617588
ENSE00003519778	158613721	158613867
ENSE00003528016	158627625	158627723
ENSE00003562694	158626146	158626222
ENSE00003612806	158639870	158640007
ENSE00003628015	158615216	158615403
ENSE00003676402	158614253	158614306
ENSE00003705440	158678401	158678534

Expression profiles

Bgee: expression breadth ubiquitous, 147 present calls, max score 97.94.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.6160 / max 1749.9717, expressed in 130 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15352	0.9642	71
15355	0.7955	93
15353	0.3631	52
15354	0.2061	36
15351	0.1951	37
15348	0.0577	11
15346	0.0223	3
15345	0.0119	4

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	97.94	gold quality
bone marrow	UBERON:0002371	93.78	gold quality
bone marrow cell	CL:0002092	92.00	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.95	gold quality
adrenal tissue	UBERON:0018303	73.02	gold quality
monocyte	CL:0000576	66.45	gold quality
mononuclear cell	CL:0000842	66.18	gold quality
leukocyte	CL:0000738	65.02	gold quality
blood	UBERON:0000178	63.97	gold quality
right testis	UBERON:0004534	63.48	gold quality
left testis	UBERON:0004533	63.26	gold quality
germinal epithelium of ovary	UBERON:0001304	62.87	gold quality
spleen	UBERON:0002106	62.30	gold quality
testis	UBERON:0000473	62.02	gold quality
sperm	CL:0000019	60.43	silver quality
male germ cell	CL:0000015	59.78	gold quality
ganglionic eminence	UBERON:0004023	56.96	gold quality
decidua	UBERON:0002450	56.55	gold quality
skin of hip	UBERON:0001554	56.51	silver quality
amniotic fluid	UBERON:0000173	55.24	gold quality
granulocyte	CL:0000094	53.97	gold quality
embryo	UBERON:0000922	53.15	gold quality
muscle of leg	UBERON:0001383	52.75	gold quality
gastrocnemius	UBERON:0001388	52.55	gold quality
endometrium epithelium	UBERON:0004811	52.44	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
omental fat pad	UBERON:0010414	52.24	gold quality
peritoneum	UBERON:0002358	52.21	gold quality
tibialis anterior	UBERON:0001385	52.06	silver quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-10432	yes	177.64
E-MTAB-8205	yes	173.43
E-CURD-112	yes	77.43
E-MTAB-10042	yes	32.87
E-MTAB-9388	yes	8.42
E-ANND-3	yes	7.65
E-MTAB-9067	yes	4.59

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, BCL3, DLX4, E2F2, E2F8, ETS1, FLI1, FOXO3, GATA1, GATA2, IKZF1, IRF6, JUN, KAT7, KLF1, LMO2, MAFB, MYB, MYC, NFE2, NFKB, NR3C1, NRF1, POU2F1, SATB2, SMAD7, SOX6, SP1, SPI1, STAT5A, TAL1, TCF3, TFCP2, YY1, ZFPM1, ZIC2, ZNF148, ZNF354C

miRNA regulators (miRDB)

19 targeting SPTA1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-5689	99.50	71.26	1154
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-155-3P	99.03	67.99	924
HSA-MIR-5699-5P	97.36	67.03	1014
HSA-MIR-6851-3P	95.73	65.11	688
HSA-MIR-3610	93.97	64.11	73

Literature-anchored findings (GeneRIF, showing 40)

• identification and characterization of the gene promoter; requires GATA-1- and NF-E2-binding proteins to direct high level expression in erythroid cells in vitro. (PMID:12196550)
• Quantitative analysis of erythrocyte membrane proteins revealed increase in alpha-spectrin from patients with homozygous and heterozygous forms of beta-thalassemia. (PMID:15310273)
• a region 3’ of the alpha-spectrin core promoter contains a GATA-1-dependent positive regulatory element that is required in its proper genomic orientation (PMID:15456760)
• analysis of erythroid alpha and beta spectrin chaperone activity and prodan binding (PMID:15492010)
• Ubiquitination of alpha-spectrin does not regulate heterodimer formation. (PMID:15795915)
• splicing mutation in hereditary pyropoikilocytosis kindred (PMID:16150946)
• We found that cysteine 2071 & cysteine 2100 are critical for alpha-spectrin (2005-2415) E2/E3 activity; also demonstrated that both Cys2071 & Cys2100 are capable of transferring ubiquitin from an E1 enzyme to target sites within alpha-spectrin (2005-2415) (PMID:16171554)
• the interaction of the alphaII-spectrin SH3 domain with EVL (PMID:16336193)
• These results suggest a role for spectrin in providing a dynamic and reversible signaling platform to the specific domains of the plasma membrane in response to stimulation of GPCR. (PMID:16551696)
• Results provide evidence that protein degradation of alphaII-spectrin is a reliable marker of severe traumatic brain injury (TBI) in humans and that both necrotic and apoptotic cell death mechanisms are activated in humans following a severe TBI. (PMID:16841024)
• REVIEW: Culture studies of Plasmodium falciparum in elliptocytes bearing such elliptocytogenic alleles of spectrin showed that these alleles are supplementary genetic factors of malaria resistance (PMID:17414207)
• The absence of particular spectrin isoforms may correlate with transformation or aggressive biologic behavior for some lymphoma subtypes. (PMID:17885671)
• analysis of the conformational change of erythroid alpha-spectrin at the tetramerization site upon binding beta-spectrin (PMID:17905835)
• This model supports the hypothesis that initial docking of the correct alpha and beta repeats from among many very similar repeats in both subunits is driven primarily by long range electrostatic interactions. (PMID:17977835)
• All alpha0 HE/HPP mutations studied here appear to exert their destabilizing effects through molecular recognition rather than structural mechanisms. (PMID:18218854)
• Erythrocytes from most jereditary pyropoikilocytosis (inherited hemolytic anemia) exhibit abnormalities in the alpha-spectrin gene. (PMID:18815189)
• exon 1’ and intron 1’ are excellent candidate regions for mutations in patients with spectrin-linked hemolytic anemia (PMID:19008453)
• The L49F mutation in alpha erythroid spectrin leads to an unstable triple helical bundle of alpha beta-spectrin partial domains, and thus unstable tetramers. (PMID:19593814)
• The functional roles of residues 21-43 and 55-59 in the alpha-spectrin N-terminal region in forming tetramers were determined;mutations may also introduce abnormalities to erythrocytes. (PMID:19747366)
• The data show that the alpha-spectrin EF domain greatly amplifies the function of the beta-spectrin actin-binding domain in forming the spectrin-actin-4.1R complex. (PMID:20585040)
• lipid rafts are associated with the spectrin skeleton in human erythrocytes (PMID:20807499)
• Results suggest that it is possible for cellular proteins to differentially associate with the C-termini of different beta-spectrin isoforms to regulate alpha- and beta-spectrin association to form functional spectrin tetramers. (PMID:21412925)
• analysis of glycosylation of erythrocyte spectrin and its modification in visceral leishmaniasis (PMID:22164239)
• Further studies involving siRNA-mediated knockdowns of spectrin, adducin, or p4.1 revealed that those proteins are needed for efficient docking of enterohaemorrhagic Escherichia coli to host cells. (PMID:22197999)
• These data further suggest that residues 44 and 53, which are key players in the nucleation-condensation mechanism of folding, are also important triggers of the aggregation process. (PMID:22727745)
• The unusually slow, two-state kinetics of spectrin assembly in solution, was investigated. (PMID:23200054)
• In this review, we summarize recent findings concerning structure and function of spectrin together with its possible role in pathology. (PMID:23373410)
• Data show that transcription cofactor TAF3 is required for transcription of the alpha spectrin SPTA1 gene. (PMID:23935956)
• The common hereditary elliptocytosis-associated alpha-spectrin leucine260proline mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. (PMID:23974198)
• The heterozygous c.121C>T mutation of SPTA1 gene induces an amino acid change p.Arg41Trp in the alpha1 domain of the alpha-spectrin protein. (PMID:24003435)
• A novel exon 2 alpha spectrin mutation is identified in two families of European ancestry with hereditary pyropoikilocytosis. (PMID:24077844)
• In this review, we summarize the state of knowledge about interactions between spectrin and membrane lipids (PMID:24569979)
• Case Report: severe hemolytic jaundice and a phenotype of hereditary spherocytosis due alpha-spectrin mutations. (PMID:25277063)
• The authors demonstrate that the initial vacuolar membrane around internalized Babesia divergens is formed from protein and lipid components of the red blood cells plasma membrane, including band 3, glycophorin A and spectrin. (PMID:25628009)
• a new function for spectrins in the stability of invadosomes and the coupling between actin regulation and ECM degradation (PMID:25830635)
• The authors show that SUB1-mediated processing of MSP1 is important for parasite viability, the processing modifies the secondary structure of MSP1 and activates its capacity to bind spectrin. (PMID:26468747)
• A novel SPTA1 mutation (H54P) was identified in a case of hereditary elliptocytosis. (PMID:28694211)
• a novel HE case with a His54Pro mutation in the SPTA1 gene was reported. The results suggested that the His54Pro mutation influenced the role of erythrocyte membrane proteins without reducing its level of expression. (PMID:29484404)
• These findings suggest that band 3 and spectrin are potential targets of autoantibodies that may be relevant for P. vivax malaria-associated anemia. (PMID:29884876)
• Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia. (PMID:30198572)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Spta1	ENSMUSG00000026532
rattus_norvegicus	Spta1	ENSRNOG00000003537

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Spectrin alpha chain, erythrocytic 1 — P02549 (reviewed: P02549)

Alternative names: Erythroid alpha-spectrin

All UniProt accessions (1): P02549

UniProt curated annotations — full annotation on UniProt →

Function. Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

Subunit / interactions. Composed of non-homologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers. Interacts with FASLG. Interacts with BCAM.

Subcellular location. Cytoplasm. Cytoskeleton. Cell cortex.

Disease relevance. Elliptocytosis 2 (EL2) [MIM:130600] A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. The disease is caused by variants affecting the gene represented in this entry. Hereditary pyropoikilocytosis (HPP) [MIM:266140] Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. The disease is caused by variants affecting the gene represented in this entry. Spherocytosis 3 (SPH3) [MIM:270970] Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. This complex is anchored to the cytoplasmic face of the plasma membrane via another protein, ankyrin, which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein band 3. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance of the lipid asymmetry of the plasma membrane.

Similarity. Belongs to the spectrin family.

Isoforms (2)

UniProt ID	Names	Canonical?
P02549-1	1	yes
P02549-2	2

RefSeq proteins (1): NP_003117* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR002017	Spectrin_repeat	Repeat
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR014837	EF-hand_Ca_insen	Domain
IPR018159	Spectrin/alpha-actinin	Repeat
IPR036028	SH3-like_dom_sf	Homologous_superfamily

Pfam: PF00018, PF00435, PF08726

UniProt features (96 total): sequence variant 38, repeat 20, helix 13, binding site 8, sequence conflict 6, domain 4, modified residue 2, strand 2, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5J4O	X-RAY DIFFRACTION	1.54
3LBX	X-RAY DIFFRACTION	2.8
1OWA	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02549-F1	76.74	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 2284; 2286; 2288; 2290; 2295; 2327; 2333; 2338

Post-translational modifications (2): 992, 1976

Function

Pathways and Gene Ontology

Reactome pathways

18 pathways

ID	Pathway
R-HSA-375165	NCAM signaling for neurite out-growth
R-HSA-445095	Interaction between L1 and Ankyrins
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-373760	L1CAM interactions
R-HSA-392499	Metabolism of proteins
R-HSA-422475	Axon guidance
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling
R-HSA-597592	Post-translational protein modification
R-HSA-948021	Transport to the Golgi and subsequent modification
R-HSA-9675108	Nervous system development

MSigDB gene sets: 284 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_LYMPHOCYTE_HOMEOSTASIS, GOBP_PLASMA_MEMBRANE_ORGANIZATION, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, GOBP_TETRAPYRROLE_BIOSYNTHETIC_PROCESS, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GNF2_ANK1

GO Biological Process (9): lymphocyte homeostasis (GO:0002260), porphyrin-containing compound biosynthetic process (GO:0006779), plasma membrane organization (GO:0007009), actin filament organization (GO:0007015), regulation of cell shape (GO:0008360), actin cytoskeleton organization (GO:0030036), hemopoiesis (GO:0030097), positive regulation of T cell proliferation (GO:0042102), actin filament capping (GO:0051693)

GO Molecular Function (6): structural constituent of cytoskeleton (GO:0005200), calcium ion binding (GO:0005509), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (16): cytosol (GO:0005829), plasma membrane (GO:0005886), spectrin (GO:0008091), cytoplasmic side of plasma membrane (GO:0009898), spectrin-associated cytoskeleton (GO:0014731), actin cytoskeleton (GO:0015629), cell junction (GO:0030054), axon (GO:0030424), cortical actin cytoskeleton (GO:0030864), cuticular plate (GO:0032437), cell projection (GO:0042995), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell cortex (GO:0005938), membrane (GO:0016020), cortical cytoskeleton (GO:0030863)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Axon guidance	2
L1CAM interactions	1
MAPK1/MAPK3 signaling	1
ER to Golgi Anterograde Transport	1
Membrane Trafficking	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Nervous system development	1
Post-translational protein modification	1
Signal Transduction	1
MAPK family signaling cascades	1
Metabolism of proteins	1
Asparagine N-linked glycosylation	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cytoskeleton	4
cytoskeleton organization	2
cytoplasm	2
cell periphery	2
cortical actin cytoskeleton	2
leukocyte homeostasis	1
porphyrin-containing compound metabolic process	1
tetrapyrrole biosynthetic process	1
endomembrane system organization	1
membrane organization	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
regulation of cell morphogenesis	1
regulation of biological quality	1
actin filament-based process	1
cell development	1
T cell proliferation	1
regulation of T cell proliferation	1
positive regulation of lymphocyte proliferation	1
positive regulation of T cell activation	1
negative regulation of actin filament depolymerization	1
negative regulation of actin filament polymerization	1
structural molecule activity	1
metal ion binding	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
cation binding	1
membrane	1
protein-containing complex	1
plasma membrane	1
cytoplasmic side of membrane	1
neuron projection	1
actin cytoskeleton	1
cortical cytoskeleton	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cell cortex	1

Protein interactions and networks

STRING

1370 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPTA1	EPB41	P11171	861
SPTA1	SPTBN1	Q01082	820
SPTA1	SPTB	P11277	800
SPTA1	SLC4A1	P02730	794
SPTA1	ANK1	P16157	774
SPTA1	EPB42	P16452	773
SPTA1	SPTBN5	Q9NRC6	751
SPTA1	SPTBN4	Q9H254	740
SPTA1	ANK3	Q12955	738
SPTA1	RBFOX2	O43251	666
SPTA1	ANK2	Q01484	648
SPTA1	CD5L	O43866	617
SPTA1	ACTG1	P02571	611
SPTA1	LRP1B	Q9NZR2	580
SPTA1	RHAG	Q02094	575

IntAct

64 interactions, top by confidence:

A	B	Type	Score
SPTA1	SPTB	psi-mi:“MI:0407”(direct interaction)	0.790
SPTA1	SPTB	psi-mi:“MI:0915”(physical association)	0.790
SPTB	SPTA1	psi-mi:“MI:0407”(direct interaction)	0.790
SPTA1	SPTBN1	psi-mi:“MI:0407”(direct interaction)	0.560
SPTBN1	SPTA1	psi-mi:“MI:0407”(direct interaction)	0.560
KRT75	SPTA1	psi-mi:“MI:0915”(physical association)	0.560
CIMAP1B	SPTA1	psi-mi:“MI:0915”(physical association)	0.560
BCKDK	SPTA1	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	TSHZ2	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	TXN2	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	DGCR6L	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	PKP2	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	CCDC185	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	C21orf58	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	GADD45GIP1	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	ZNF326	psi-mi:“MI:0915”(physical association)	0.560
SPTA1	EXOSC5	psi-mi:“MI:0915”(physical association)	0.560
SLC4A1	FLOT1	psi-mi:“MI:0914”(association)	0.530
SPTA1	ABI1	psi-mi:“MI:0915”(physical association)	0.510
CBL	BCR/ABL fusion	psi-mi:“MI:0914”(association)	0.460
UBASH3B	BCR/ABL fusion	psi-mi:“MI:0914”(association)	0.460
SHC1	BCR/ABL fusion	psi-mi:“MI:0914”(association)	0.460
ADAM10	SPTA1	psi-mi:“MI:0407”(direct interaction)	0.440
FASLG	SPTA1	psi-mi:“MI:0407”(direct interaction)	0.440
SPTA1	PARP1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (117): ANK1 (Biochemical Activity), SPTA1 (Affinity Capture-MS), SPTA1 (Co-crystal Structure), SPTA1 (Affinity Capture-MS), SMARCA4 (Affinity Capture-Western), HNRNPA2B1 (Affinity Capture-Western), SMARCA2 (Affinity Capture-Western), ERCC5 (Affinity Capture-Western), ERCC6 (Affinity Capture-Western), FANCA (Affinity Capture-Western), FANCD2 (Affinity Capture-Western), RAD50 (Affinity Capture-Western), BRIP1 (Affinity Capture-Western), ERCC4 (Affinity Capture-Western), ERCC3 (Affinity Capture-Western)

ESM2 similar proteins: A0A8M2BID5, A2CG49, D3ZEY0, D3ZHV2, E9Q557, E9Q8Q6, F1LMV6, F1M0Z1, G3V7L1, O15068, O60229, O60437, O75962, O97592, P02549, P10911, P11277, P11530, P11531, P11532, P11533, P15508, P15924, P30427, P46939, P97924, Q03001, Q0KL02, Q15149, Q1LUA6, Q4FZC9, Q5GN48, Q63406, Q64096, Q6ZMZ3, Q6ZP82, Q6ZWQ0, Q6ZWR6, Q86YR7, Q8NF91

Diamond homologs: A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791, O75886, O88811, O89100, O93436, P02549, P07751, P09215, P09216, P10830, P13395, P16054, P16086, P16546, P23298, P24723, P28867, P29355, P32793, P34885, P38753, P43603, P53281, P62993, P62994, P70297, P87379, P97306

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GATA1	“up-regulates quantity by expression”	SPTA1	“transcriptional regulation”
SPTA1	“form complex”	“Erythrocytic spectrin”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Signaling by Receptor Tyrosine Kinases	5	10.3×	3e-03
Axon guidance	5	9.0×	5e-03
Nervous system development	5	8.6×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of canonical NF-kappaB signal transduction	5	12.1×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1531 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	66
Likely pathogenic	109
Uncertain significance	781
Likely benign	162
Benign	125

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1030628	NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter)	Pathogenic
1033567	NM_003126.4(SPTA1):c.4180del (p.Cys1394fs)	Pathogenic
1162868	NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)	Pathogenic
1163657	NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter)	Pathogenic
12849	NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser)	Pathogenic
12852	NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp)	Pathogenic
12854	NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser)	Pathogenic
12860	NM_003126.4(SPTA1):c.2465-1G>A	Pathogenic
12861	NG_011474.1:g.11070_11071insSVAelement	Pathogenic
12863	NM_003126.2(SPTA1):c.5190_5310del	Pathogenic
12865	NM_003126.4(SPTA1):c.3188+5G>A	Pathogenic
1330482	NM_003126.4(SPTA1):c.1778del (p.Asp593fs)	Pathogenic
1343229	NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter)	Pathogenic
1413207	NM_003126.4(SPTA1):c.1460_1463dup (p.Asp489fs)	Pathogenic
1676967	NM_003126.4(SPTA1):c.27del (p.Val10fs)	Pathogenic
1676968	NM_003126.4(SPTA1):c.4443-1G>A	Pathogenic
1879102	NM_003126.4(SPTA1):c.5530C>T (p.Arg1844Ter)	Pathogenic
2026750	NM_003126.4(SPTA1):c.4408G>T (p.Glu1470Ter)	Pathogenic
2071594	NM_003126.4(SPTA1):c.2920del (p.Glu974fs)	Pathogenic
2090339	NM_003126.4(SPTA1):c.1790G>A (p.Trp597Ter)	Pathogenic
2428537	NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)	Pathogenic
2428579	NM_003126.4(SPTA1):c.2954del (p.Leu985fs)	Pathogenic
2438362	NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs)	Pathogenic
2438367	NM_003126.4(SPTA1):c.1120C>T (p.Arg374Ter)	Pathogenic
2635281	NM_003126.4(SPTA1):c.2319C>A (p.Cys773Ter)	Pathogenic
2690495	NM_003126.4(SPTA1):c.6335T>G (p.Leu2112Ter)	Pathogenic
2698766	NM_003126.4(SPTA1):c.2464G>T (p.Gly822Ter)	Pathogenic
279900	NM_003126.4(SPTA1):c.5950A>T (p.Arg1984Ter)	Pathogenic
2820488	NM_003126.4(SPTA1):c.4603C>T (p.Gln1535Ter)	Pathogenic
2826237	NM_003126.4(SPTA1):c.1055G>A (p.Trp352Ter)	Pathogenic

SpliceAI

6392 predictions. Top by Δscore:

Variant	Effect	Δscore
1:158612811:TCGGA:T	donor_loss	1.0000
1:158612812:CGGAC:C	donor_loss	1.0000
1:158612813:GGAC:G	donor_loss	1.0000
1:158612814:GACC:G	donor_loss	1.0000
1:158612815:A:T	donor_loss	1.0000
1:158612816:C:CA	donor_loss	1.0000
1:158612958:CTTC:C	acceptor_gain	1.0000
1:158612959:TTC:T	acceptor_gain	1.0000
1:158612959:TTCC:T	acceptor_loss	1.0000
1:158612960:TC:T	acceptor_gain	1.0000
1:158612961:CC:C	acceptor_gain	1.0000
1:158612962:C:CC	acceptor_gain	1.0000
1:158613716:CCTA:C	donor_loss	1.0000
1:158613717:CTAC:C	donor_loss	1.0000
1:158613719:A:AT	donor_loss	1.0000
1:158613719:ACCT:A	donor_gain	1.0000
1:158613719:ACCTC:A	donor_gain	1.0000
1:158613720:CCT:C	donor_gain	1.0000
1:158613720:CCTC:C	donor_gain	1.0000
1:158613720:CCTCC:C	donor_gain	1.0000
1:158613722:T:TA	donor_gain	1.0000
1:158613723:C:A	donor_gain	1.0000
1:158613749:T:TA	donor_gain	1.0000
1:158613863:AGTGT:A	acceptor_gain	1.0000
1:158613864:GTGT:G	acceptor_gain	1.0000
1:158613865:TGT:T	acceptor_gain	1.0000
1:158613866:GT:G	acceptor_gain	1.0000
1:158613867:TCTAA:T	acceptor_loss	1.0000
1:158613868:C:CC	acceptor_gain	1.0000
1:158613868:CTA:C	acceptor_loss	1.0000

AlphaMissense

16084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:158685289:C:G	R28P	0.985
1:158611288:G:C	F2412L	0.984
1:158611288:G:T	F2412L	0.984
1:158611290:A:G	F2412L	0.984
1:158639929:C:G	A1606P	0.984
1:158611289:A:G	F2412S	0.981
1:158639937:A:G	L1603P	0.981
1:158639877:A:G	L1623P	0.979
1:158612869:A:G	F2361S	0.978
1:158652571:C:G	A1091P	0.977
1:158676156:A:G	L366P	0.977
1:158613811:A:G	L2300P	0.976
1:158611385:A:G	L2380P	0.974
1:158649861:A:C	F1188L	0.973
1:158649861:A:T	F1188L	0.973
1:158649863:A:G	F1188L	0.973
1:158652609:A:G	L1078P	0.973
1:158613823:A:G	F2296S	0.971
1:158677821:C:G	A276P	0.971
1:158685259:A:G	F38S	0.971
1:158685269:A:C	Y35D	0.971
1:158674663:A:C	F375L	0.970
1:158674663:A:T	F375L	0.970
1:158674665:A:G	F375L	0.970
1:158685168:C:A	W68C	0.970
1:158685168:C:G	W68C	0.970
1:158657610:C:G	R891P	0.969
1:158611362:A:G	C2388R	0.968
1:158615237:A:G	L2256P	0.968
1:158676210:A:G	L348P	0.968

dbSNP variants (sampled 300 via entrez): RS1000001087 (1:158628435 G>T), RS1000012251 (1:158644136 CAAA>C,CA,CAA,CAAAA,CAAAAA,CAAAAAA,CAAAAAAA), RS1000071795 (1:158647213 C>G,T), RS1000162544 (1:158650189 A>C), RS1000237164 (1:158666734 G>A), RS1000244154 (1:158618919 A>G), RS1000262697 (1:158612703 G>A,C,T), RS1000283566 (1:158681723 C>T), RS1000335456 (1:158681913 A>T), RS1000411872 (1:158682981 A>G,T), RS1000432961 (1:158628207 T>C), RS1000445686 (1:158650524 G>A,T), RS1000479405 (1:158639419 C>T), RS1000486015 (1:158633835 G>T), RS1000492817 (1:158623657 C>A,T)

Disease associations

OMIM: gene MIM:182860 | disease phenotypes: MIM:130600, MIM:266140, MIM:270970, MIM:222700, MIM:616649, MIM:301107

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary spherocytosis type 3	Definitive	Autosomal recessive
elliptocytosis 2	Strong	Autosomal dominant
pyropoikilocytosis, hereditary	Strong	Autosomal recessive
hereditary elliptocytosis	Supportive	Autosomal dominant
hereditary spherocytosis	Supportive	Autosomal dominant

Mondo (11): elliptocytosis 2 (MONDO:0007533), pyropoikilocytosis, hereditary (MONDO:0009948), hereditary spherocytosis type 3 (MONDO:0010053), hereditary spherocytosis (MONDO:0019350), lysinuric protein intolerance (MONDO:0009109), hereditary spherocytosis type 2 (MONDO:0000913), hemolytic anemia (MONDO:0003664), intellectual developmental disorder, X-linked 111 (MONDO:0957203), familial hemolytic anemia (MONDO:0003689), anemia (MONDO:0002280), hereditary elliptocytosis (MONDO:0017319)

Orphanet (4): Hereditary elliptocytosis (Orphanet:288), Hereditary spherocytosis (Orphanet:822), Lysinuric protein intolerance (Orphanet:470), Hereditary pyropoikilocytosis (Orphanet:98867)

HPO phenotypes

44 total (30 of 44 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000952	Jaundice
HP:0000980	Pallor
HP:0001081	Cholelithiasis
HP:0001251	Ataxia
HP:0001324	Muscle weakness
HP:0001510	Growth delay
HP:0001723	Restrictive cardiomyopathy
HP:0001744	Splenomegaly
HP:0001789	Hydrops fetalis
HP:0001877	Abnormal erythrocyte morphology
HP:0001878	Hemolytic anemia
HP:0001903	Anemia
HP:0001923	Reticulocytosis
HP:0001945	Fever
HP:0001978	Extramedullary hematopoiesis
HP:0001997	Gout
HP:0002007	Frontal bossing
HP:0002027	Abdominal pain
HP:0002240	Hepatomegaly
HP:0002904	Hyperbilirubinemia
HP:0003265	Neonatal hyperbilirubinemia
HP:0003270	Abdominal distention
HP:0003326	Myalgia
HP:0003546	Exercise intolerance
HP:0004444	Spherocytosis
HP:0004445	Elliptocytosis
HP:0004446	Stomatocytosis
HP:0004447	Poikilocytosis

GWAS associations

83 associations (top):

Study	Trait	p-value
GCST000500_4	Other erythrocyte phenotypes	1.000000e-10
GCST000803_1	Glycated hemoglobin levels	3.000000e-09
GCST001765_34	Red blood cell traits	4.000000e-16
GCST003542_29	Night sleep phenotypes	6.000000e-06
GCST003598_53	QRS duration	1.000000e-06
GCST003598_54	QRS duration	8.000000e-09
GCST004602_17	Mean corpuscular volume	6.000000e-29
GCST004602_18	Mean corpuscular volume	2.000000e-25
GCST004602_19	Mean corpuscular volume	8.000000e-19
GCST004605_55	Mean corpuscular hemoglobin concentration	2.000000e-52
GCST004611_114	High light scatter reticulocyte count	2.000000e-10
GCST004611_115	High light scatter reticulocyte count	1.000000e-62
GCST004611_116	High light scatter reticulocyte count	3.000000e-30
GCST004612_153	High light scatter reticulocyte percentage of red cells	3.000000e-10
GCST004612_154	High light scatter reticulocyte percentage of red cells	7.000000e-58
GCST004612_155	High light scatter reticulocyte percentage of red cells	4.000000e-28
GCST004619_126	Reticulocyte fraction of red cells	5.000000e-16
GCST004619_127	Reticulocyte fraction of red cells	1.000000e-151
GCST004619_74	Reticulocyte fraction of red cells	3.000000e-47
GCST004621_36	Red cell distribution width	3.000000e-23
GCST004621_37	Red cell distribution width	7.000000e-23
GCST004622_136	Reticulocyte count	2.000000e-16
GCST004622_137	Reticulocyte count	2.000000e-159
GCST004622_138	Reticulocyte count	3.000000e-50
GCST004627_129	Lymphocyte count	9.000000e-16
GCST004628_132	Immature fraction of reticulocytes	3.000000e-09
GCST004630_14	Mean corpuscular hemoglobin	4.000000e-10
GCST004633_96	Neutrophil percentage of white cells	4.000000e-11
GCST005992_2	Mean corpuscular hemoglobin concentration	1.000000e-14
GCST006011_90	Mean corpuscular volume	9.000000e-11

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004541	HbA1c measurement
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0004587	lymphocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007629	hemoglobin A1 measurement
EFO:0004509	hemoglobin measurement
EFO:0009473	hemolysis
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0005091	monocyte count
EFO:0010701	mean reticulocyte volume
EFO:0007984	platelet component distribution width
EFO:0004305	erythrocyte count

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D000740	Anemia	C15.378.050
D000743	Anemia, Hemolytic	C15.378.050.141
D000745	Anemia, Hemolytic, Congenital	C15.378.050.141.150; C16.320.070
D004612	Elliptocytosis, Hereditary	C15.378.050.141.150.365; C16.320.070.365
D013103	Spherocytosis, Hereditary	C15.378.050.141.150.785; C16.320.070.785
C565058	Elliptocytosis 2 (supp.)
C562687	Lysinuric Protein Intolerance (supp.)
C563004	Pyropoikilocytosis, Hereditary (supp.)
C567489	Spherocytosis, Type 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2106089	SPTA1		0.00	0

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
4-phenylenediamine	increases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
(E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Dinitrochlorobenzene	increases expression	1
Drugs, Chinese Herbal	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Naphthoquinones	increases expression	1
Oxygen	increases expression	1
Okadaic Acid	increases expression	1
tert-Butylhydroperoxide	affects binding, increases degradation	1

Cellosaurus cell lines

32 cell lines: 32 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0561	TK6	Transformed cell line	Male
CVCL_2733	TK6TGR	Transformed cell line	Male
CVCL_2761	WIL2 NS	Transformed cell line	Male
CVCL_2762	WIL2.NS.6TG	Transformed cell line	Male
CVCL_3796	SKW 6.4	Transformed cell line	Male
CVCL_3809	WIL2 S	Transformed cell line	Male
CVCL_6416	LTR228	Transformed cell line	Male
CVCL_6544	WIL2	Transformed cell line	Male
CVCL_6741	WI-L2-729HF2	Transformed cell line	Male
CVCL_6742	WTK-1	Transformed cell line	Male

Clinical trials (associated diseases)

301 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05777993	PHASE4	ENROLLING_BY_INVITATION	A Study to Provide Continued Access to Mitapivat for Participants Who Previously Completed an Agios-Sponsored Mitapivat Study
NCT00003398	PHASE4	COMPLETED	Bone Marrow Transplantation in Treating Patients With Hematologic Cancer
NCT00022386	PHASE4	COMPLETED	Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer
NCT00046969	PHASE4	COMPLETED	Epoetin Beta in Treating Anemia in Patients With Cervical Cancer
NCT00111995	PHASE4	COMPLETED	Evaluating Aranesp® for the Treatment of Anemia in African-American Subjects With Chronic Renal Failure (CRF) Receiving Hemodialysis
NCT00117039	PHASE4	COMPLETED	A Study to Evaluate the Effectiveness of Aranesp® for Cancer Patients With Anemia
NCT00117065	PHASE4	COMPLETED	Study of Transplant Related Anemia Treated With Aranesp® (STRATA)
NCT00117117	PHASE4	COMPLETED	A Study to Assess Symptom Burden in Subjects With Nonmyeloid Malignancies Receiving Chemotherapy and Aranesp®
NCT00126334	PHASE4	COMPLETED	Conservative Versus Liberal Red Cell Transfusion in Myocardial Infarction Trial: The CRIT Pilot
NCT00153868	PHASE4	COMPLETED	A Web-based Study of Quality of Life Benefits Associated Aranesp in Anemic Patients With Cancer
NCT00168948	PHASE4	UNKNOWN	Intermittent Antimalaria Treatment With SP in African Children
NCT00173706	PHASE4	UNKNOWN	Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis
NCT00194857	PHASE4	TERMINATED	Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin
NCT00204334	PHASE4	COMPLETED	Effects of Anemia Correction on Vascular and Monocyte Function in Renal Transplant Recipients
NCT00206739	PHASE4	COMPLETED	Intermittent Treatment With Sulfadoxine-pyrimethamine for Malaria Control in Infants
NCT00211120	PHASE4	TERMINATED	Correction of Hemoglobin and Outcomes in Renal Insufficiency (CHOIR)
NCT00216541	PHASE4	COMPLETED	A Study of the Safety and Effectiveness of Epoetin Alfa on Hemoglobin Levels and Blood Transfusions in Cancer Patients Receiving Chemotherapy
NCT00223938	PHASE4	TERMINATED	Study of the Efficacy and Safety of Ferrlecit in the Maintenance Dosing in Hemodialysis Patients.
NCT00223964	PHASE4	COMPLETED	Study of the Efficacy of Two Doses of Ferrlecit in the Treatment of Iron Deficiency in Pediatric Hemodialysis Patients
NCT00224003	PHASE4	COMPLETED	Study of the Safety and Efficacy of Ferrlecit® Maintenance Dosing in Pediatric Hemodialysis Patients
NCT00224068	PHASE4	COMPLETED	Effect of Iron Therapy as an Adjunct to Epoetin Alfa in the Anemia of Cancer Chemotherapy
NCT00239642	PHASE4	COMPLETED	Safety and Efficacy of Iron Sucrose in Children
NCT00247507	PHASE4	UNKNOWN	The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients
NCT00248716	PHASE4	UNKNOWN	Treatment of Anemia in the 2nd Year of Life. Comparison of the Efficacy of Two Different Iron Preparations.
NCT00283465	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Treatment With Epoetin Alfa on Hemoglobin Levels, Red Blood Cell Transfusions, and Quality of Life in Patients With Cancer Receiving Platinum-containing Chemotherapy
NCT00312871	PHASE4	TERMINATED	Effects of Early Correction of Anemia in Patients With Chronic Renal Insufficiency
NCT00315484	PHASE4	COMPLETED	Hematologic Response of Epoetin Alfa (PROCRIT) Versus Darbepoetin Alfa (ARANESP) in Chemotherapy Induced Anemia
NCT00317902	PHASE4	COMPLETED	An Open-Label Study to Evaluate the Effect of Every Other Week PROCRIT� (Epoetin Alfa) Dosing (40,000-60,000 Units) On Maintaining Quality of Life and Target Hemoglobin Levels in Anemic HIV-Infected Patients (CHAMPS II)
NCT00335023	PHASE4	COMPLETED	Well Being of Obstetric Patients on Minimal Blood Transfusions
NCT00338468	PHASE4	TERMINATED	A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa)
NCT00377481	PHASE4	COMPLETED	COMFORT Study: A Crossover Study of NeoRecormon (Epoetin Beta) and Darbepoetin Alfa in Patients With Renal Anemia.
NCT00396435	PHASE4	COMPLETED	Correction of Anaemia and Progression of Renal Failure on Transplanted Patients
NCT00401869	PHASE4	COMPLETED	The Effect of PROCRIT (Epoetin Alfa) on Postoperative Vigor and Handgrip Strength (VIGOR Study)
NCT00413101	PHASE4	COMPLETED	A Study of NeoRecormon (Epoetin Beta) in Patients With End Stage Renal Disease.
NCT00431496	PHASE4	COMPLETED	A Study of Cinacalcet to Improve Achievement of National Kidney Foundation Kidney Disease Outcomes Quality Initiative (K/DOQI) Targets in Patients With End Stage Renal Disease (ESRD)
NCT00437723	PHASE4	COMPLETED	A Study of NeoRecormon in Patients With Chronic Kidney Disease.
NCT00440063	PHASE4	TERMINATED	A Study of NeoRecormon (Epoetin Beta) in Patients With Renal Anemia.
NCT00470158	PHASE4	COMPLETED	Delivery of Iron and Zinc Supplements: Evaluation of Interaction Effect on Biochemical and Clinical Outcomes
NCT00479102	PHASE4	UNKNOWN	Prevention of Iron Deficiency in 2nd Year of Life
NCT00495365	PHASE4	TERMINATED	A Dose Conversion Study of Epoetin Alfa in Subjects With the Anemia of Chronic Kidney Disease.