Disease table of PYROPOIKILOCYTOSIS, HEREDITARY OMIM ID: 266140

Gene-disease associations table

Gene	Associated with PYROPOIKILOCYTOSIS, HEREDITARY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
SPTA1	ClinVar, OMIM, HUMSAVAR	HGNC link	1q23.1	3	270970, 130600, 266140
SPTB	ClinVar	HGNC link	14q23.3	2	616649, 266140

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
SPTA1	SPTB	Yes	3	GAN, YWHAQ, ANK1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
SPTA1	SPTB	Yes	binding	17	NFASC, KRAS, ANK1, SPTAN1, SPTBN1, NCAM1, HRAS, SPTBN4, SOS1, SPTBN5, PTPRA, PTK2, SPTBN2, FYN, KCNQ3, NRCAM, KCNQ2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
SPTA1	SPTB	Yes	2	SPTB, SPTA1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	R-HSA-2404192	4.85	2	SPTB, SPTA1
FCERI mediated MAPK activation	R-HSA-2871796	4.32	2	SPTB, SPTA1
Signaling by Interleukins	R-HSA-449147	4.71	2	SPTB, SPTA1
GRB2 events in ERBB2 signaling	R-HSA-1963640	5.15	2	SPTB, SPTA1
Frs2-mediated activation	R-HSA-170968	5.12	2	SPTB, SPTA1
Cytokine Signaling in Immune system	R-HSA-1280215	3.74	2	SPTB, SPTA1
IGF1R signaling cascade	R-HSA-2428924	4.85	2	SPTB, SPTA1
Downstream signal transduction	R-HSA-186763	4.65	2	SPTB, SPTA1
IRS-related events triggered by IGF1R	R-HSA-2428928	4.85	2	SPTB, SPTA1
Signaling by ERBB4	R-HSA-1236394	4.7	2	SPTB, SPTA1
DAP12 interactions	R-HSA-2172127	4.56	2	SPTB, SPTA1
Signaling by Insulin receptor	R-HSA-74752	4.73	2	SPTB, SPTA1
Developmental Biology	R-HSA-1266738	3.48	2	SPTB, SPTA1
Insulin receptor signalling cascade	R-HSA-74751	4.85	2	SPTB, SPTA1
Signaling by ERBB2	R-HSA-1227986	4.66	2	SPTB, SPTA1
Downstream signaling of activated FGFR1	R-HSA-5654687	4.71	2	SPTB, SPTA1
MAPK family signaling cascades	R-HSA-5683057	4.89	2	SPTB, SPTA1
Signalling by NGF	R-HSA-166520	4.23	2	SPTB, SPTA1
Signaling by VEGF	R-HSA-194138	4.66	2	SPTB, SPTA1
Signalling to p38 via RIT and RIN	R-HSA-187706	5.12	2	SPTB, SPTA1
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26	2	SPTB, SPTA1
IRS-mediated signalling	R-HSA-112399	4.87	2	SPTB, SPTA1
FRS-mediated FGFR2 signaling	R-HSA-5654700	5.14	2	SPTB, SPTA1
FRS-mediated FGFR4 signaling	R-HSA-5654712	5.14	2	SPTB, SPTA1
FRS-mediated FGFR3 signaling	R-HSA-5654706	5.14	2	SPTB, SPTA1
Downstream signaling of activated FGFR3	R-HSA-5654708	4.71	2	SPTB, SPTA1
RAF/MAP kinase cascade	R-HSA-5673001	5.15	2	SPTB, SPTA1
Signaling by FGFR4	R-HSA-5654743	4.69	2	SPTB, SPTA1
Signaling by FGFR3	R-HSA-5654741	4.69	2	SPTB, SPTA1
VEGFA-VEGFR2 Pathway	R-HSA-4420097	4.7	2	SPTB, SPTA1
Interaction between L1 and Ankyrins	R-HSA-445095	8.03	2	SPTB, SPTA1
L1CAM interactions	R-HSA-373760	6.19	2	SPTB, SPTA1
Signaling by FGFR	R-HSA-190236	4.67	2	SPTB, SPTA1
Fc epsilon receptor (FCERI) signaling	R-HSA-2454202	4.03	2	SPTB, SPTA1
Immune System	R-HSA-168256	2.37	2	SPTB, SPTA1
MAPK1/MAPK3 signaling	R-HSA-5684996	5.11	2	SPTB, SPTA1
Interleukin receptor SHC signaling	R-HSA-912526	5.09	2	SPTB, SPTA1
Innate Immune System	R-HSA-168249	3.17	2	SPTB, SPTA1
Signaling by SCF-KIT	R-HSA-1433557	4.73	2	SPTB, SPTA1
Interleukin-2 signaling	R-HSA-451927	5.05	2	SPTB, SPTA1
SHC1 events in ERBB2 signaling	R-HSA-1250196	5.15	2	SPTB, SPTA1
NCAM signaling for neurite out-growth	R-HSA-375165	4.9	2	SPTB, SPTA1
Signalling to RAS	R-HSA-167044	5.08	2	SPTB, SPTA1
DAP12 signaling	R-HSA-2424491	4.64	2	SPTB, SPTA1
Interleukin-3, 5 and GM-CSF signaling	R-HSA-512988	4.99	2	SPTB, SPTA1
Downstream signaling of activated FGFR2	R-HSA-5654696	4.71	2	SPTB, SPTA1
SHC1 events in ERBB4 signaling	R-HSA-1250347	5.15	2	SPTB, SPTA1
SHC1 events in EGFR signaling	R-HSA-180336	5.15	2	SPTB, SPTA1
NGF signalling via TRKA from the plasma membrane	R-HSA-187037	4.51	2	SPTB, SPTA1
FRS-mediated FGFR1 signaling	R-HSA-5654693	5.14	2	SPTB, SPTA1
Prolonged ERK activation events	R-HSA-169893	5.11	2	SPTB, SPTA1
Signaling by Leptin	R-HSA-2586552	5.1	2	SPTB, SPTA1
Signaling by GPCR	R-HSA-372790	2.68	2	SPTB, SPTA1
Signaling by FGFR2	R-HSA-5654738	4.68	2	SPTB, SPTA1
GRB2 events in EGFR signaling	R-HSA-179812	5.15	2	SPTB, SPTA1
Signalling to ERKs	R-HSA-187687	5.04	2	SPTB, SPTA1
Signaling by FGFR1	R-HSA-5654736	4.69	2	SPTB, SPTA1
Signaling by EGFR	R-HSA-177929	4.59	2	SPTB, SPTA1
ARMS-mediated activation	R-HSA-170984	5.12	2	SPTB, SPTA1
SOS-mediated signalling	R-HSA-112412	5.15	2	SPTB, SPTA1
Downstream signaling of activated FGFR4	R-HSA-5654716	4.71	2	SPTB, SPTA1
Signaling by PDGF	R-HSA-186797	4.53	2	SPTB, SPTA1
Axon guidance	R-HSA-422475	3.93	2	SPTB, SPTA1
VEGFR2 mediated cell proliferation	R-HSA-5218921	5.07	2	SPTB, SPTA1
Signal Transduction	R-HSA-162582	1.78	2	SPTB, SPTA1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Interaction between L1 and Ankyrins (R-HSA-445095)	-	8.03	0.001	SPTB, SPTA1
L1CAM interactions (R-HSA-373760)	-	6.19	0.012	SPTB, SPTA1

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
Ras guanyl-nucleotide exchange factor activity (GO:0005088)	4.31	2	SPTB, SPTA1
structural constituent of cytoskeleton (GO:0005200)	5.12	2	SPTB, SPTA1
cytoskeletal protein binding (GO:0008092)	3.02	2	SPTB, SPTA1
guanyl-nucleotide exchange factor activity (GO:0005085)	4.02	2	SPTB, SPTA1
actin filament binding (GO:0051015)	4.93	2	SPTB, SPTA1
structural molecule activity (GO:0005198)	3.1	2	SPTB, SPTA1
actin binding (GO:0003779)	3.74	2	SPTB, SPTA1
macromolecular complex binding (GO:0044877)	2.61	2	SPTB, SPTA1
binding (GO:0005488)	0.18	2	SPTB, SPTA1
protein binding (GO:0005515)	0.46	2	SPTB, SPTA1
protein complex binding (GO:0032403)	3.09	2	SPTB, SPTA1
molecular function regulator (GO:0098772)	2.51	2	SPTB, SPTA1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
structural constituent of cytoskeleton (GO:0005200)	-	5.12	0.004	SPTB, SPTA1
cytoskeletal protein binding (GO:0008092)	-	3.02	0.031	SPTB, SPTA1
actin filament binding (GO:0051015)	-	4.93	0.0	SPTB, SPTA1
structural molecule activity (GO:0005198)	-	3.1	0.024	SPTB, SPTA1
actin binding (GO:0003779)	-	3.74	0.008	SPTB, SPTA1
protein complex binding (GO:0032403)	-	3.09	0.031	SPTB, SPTA1
protein heterodimerization activity (GO:0046982)	NEW	3.64	0.008	SPTB, SPTA1

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
regulation of organelle organization (GO:0033043)	2.72	2	SPTB, SPTA1
phosphorylation (GO:0016310)	2.63	2	SPTB, SPTA1
regulation of protein depolymerization (GO:1901879)	5.44	2	SPTB, SPTA1
regulation of actin filament polymerization (GO:0030833)	4.76	2	SPTB, SPTA1
negative regulation of cellular component organization (GO:0051129)	3.35	2	SPTB, SPTA1
movement of cell or subcellular component (GO:0006928)	2.61	2	SPTB, SPTA1
regulation of actin polymerization or depolymerization (GO:0008064)	4.65	2	SPTB, SPTA1
regulation of actin filament-based process (GO:0032970)	3.97	2	SPTB, SPTA1
signal transduction (GO:0007165)	1.28	2	SPTB, SPTA1
cellular localization (GO:0051641)	2.32	2	SPTB, SPTA1
axon guidance (GO:0007411)	4.44	2	SPTB, SPTA1
regulation of protein complex disassembly (GO:0043244)	5.27	2	SPTB, SPTA1
intracellular signal transduction (GO:0035556)	2.39	2	SPTB, SPTA1
macromolecule metabolic process (GO:0043170)	0.83	2	SPTB, SPTA1
regulation of GTPase activity (GO:0043087)	3.21	2	SPTB, SPTA1
regulation of biological process (GO:0050789)	0.45	2	SPTB, SPTA1
cellular component organization or biogenesis (GO:0071840)	1.22	2	SPTB, SPTA1
negative regulation of protein complex disassembly (GO:0043242)	5.65	2	SPTB, SPTA1
cellular protein metabolic process (GO:0044267)	1.63	2	SPTB, SPTA1
single-organism metabolic process (GO:0044710)	1.63	2	SPTB, SPTA1
establishment of localization (GO:0051234)	1.48	2	SPTB, SPTA1
ER to Golgi vesicle-mediated transport (GO:0006888)	4.7	2	SPTB, SPTA1
positive regulation of GTPase activity (GO:0043547)	3.28	2	SPTB, SPTA1
cellular macromolecule metabolic process (GO:0044260)	0.93	2	SPTB, SPTA1
negative regulation of actin filament polymerization (GO:0030837)	5.94	2	SPTB, SPTA1
negative regulation of cytoskeleton organization (GO:0051494)	5.01	2	SPTB, SPTA1
regulation of cytoskeleton organization (GO:0051493)	3.72	2	SPTB, SPTA1
phosphate-containing compound metabolic process (GO:0006796)	2.16	2	SPTB, SPTA1
cellular component organization (GO:0016043)	1.24	2	SPTB, SPTA1
regulation of anatomical structure size (GO:0090066)	3.78	2	SPTB, SPTA1
organic substance metabolic process (GO:0071704)	0.63	2	SPTB, SPTA1
biological regulation (GO:0065007)	0.39	2	SPTB, SPTA1
signal transduction by protein phosphorylation (GO:0023014)	3.79	2	SPTB, SPTA1
positive regulation of molecular function (GO:0044093)	2.23	2	SPTB, SPTA1
negative regulation of biological process (GO:0048519)	1.33	2	SPTB, SPTA1
regulation of molecular function (GO:0065009)	1.78	2	SPTB, SPTA1
regulation of biological quality (GO:0065008)	1.68	2	SPTB, SPTA1
establishment of localization in cell (GO:0051649)	2.47	2	SPTB, SPTA1
regulation of protein polymerization (GO:0032271)	4.57	2	SPTB, SPTA1
positive regulation of catalytic activity (GO:0043085)	2.4	2	SPTB, SPTA1
transport (GO:0006810)	1.51	2	SPTB, SPTA1
negative regulation of protein polymerization (GO:0032272)	5.72	2	SPTB, SPTA1
Golgi vesicle transport (GO:0048193)	4.07	2	SPTB, SPTA1
negative regulation of protein complex assembly (GO:0031333)	5.07	2	SPTB, SPTA1
regulation of actin filament length (GO:0030832)	4.65	2	SPTB, SPTA1
cellular protein modification process (GO:0006464)	1.79	2	SPTB, SPTA1
negative regulation of protein depolymerization (GO:1901880)	5.7	2	SPTB, SPTA1
regulation of cellular component organization (GO:0051128)	2.01	2	SPTB, SPTA1
macromolecule modification (GO:0043412)	1.73	2	SPTB, SPTA1
protein modification process (GO:0036211)	1.79	2	SPTB, SPTA1
single-organism cellular process (GO:0044763)	0.65	2	SPTB, SPTA1
protein phosphorylation (GO:0006468)	2.89	2	SPTB, SPTA1
metabolic process (GO:0008152)	0.58	2	SPTB, SPTA1
regulation of actin cytoskeleton organization (GO:0032956)	4.09	2	SPTB, SPTA1
localization (GO:0051179)	1.4	2	SPTB, SPTA1
regulation of actin filament depolymerization (GO:0030834)	5.88	2	SPTB, SPTA1
regulation of protein complex assembly (GO:0043254)	3.83	2	SPTB, SPTA1
neuron projection guidance (GO:0097485)	4.43	2	SPTB, SPTA1
actin filament capping (GO:0051693)	6.26	2	SPTB, SPTA1
regulation of cellular process (GO:0050794)	0.5	2	SPTB, SPTA1
negative regulation of actin filament depolymerization (GO:0030835)	6.17	2	SPTB, SPTA1
regulation of hydrolase activity (GO:0051336)	2.53	2	SPTB, SPTA1
primary metabolic process (GO:0044238)	0.69	2	SPTB, SPTA1
single-organism process (GO:0044699)	0.48	2	SPTB, SPTA1
intracellular transport (GO:0046907)	2.67	2	SPTB, SPTA1
regulation of catalytic activity (GO:0050790)	1.97	2	SPTB, SPTA1
protein metabolic process (GO:0019538)	1.45	2	SPTB, SPTA1
negative regulation of organelle organization (GO:0010639)	4.07	2	SPTB, SPTA1
cellular metabolic process (GO:0044237)	0.69	2	SPTB, SPTA1
MAPK cascade (GO:0000165)	3.91	2	SPTB, SPTA1
regulation of cellular component biogenesis (GO:0044087)	3.08	2	SPTB, SPTA1
positive regulation of hydrolase activity (GO:0051345)	2.91	2	SPTB, SPTA1
negative regulation of cellular process (GO:0048523)	1.41	2	SPTB, SPTA1
phosphorus metabolic process (GO:0006793)	2.15	2	SPTB, SPTA1
cellular process (GO:0009987)	0.26	2	SPTB, SPTA1
regulation of cellular component size (GO:0032535)	4.21	2	SPTB, SPTA1
vesicle-mediated transport (GO:0016192)	2.72	2	SPTB, SPTA1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
regulation of protein depolymerization (GO:1901879)	-	5.44	0.009	SPTB, SPTA1
porphyrin-containing compound metabolic process (GO:0006778)	NEW	6.09	0.001	SPTB, SPTA1
porphyrin-containing compound biosynthetic process (GO:0006779)	NEW	6.47	0.001	SPTB, SPTA1
regulation of actin polymerization or depolymerization (GO:0008064)	-	4.65	0.044	SPTB, SPTA1
plasma membrane organization (GO:0007009)	NEW	4.8	0.033	SPTB, SPTA1
axon guidance (GO:0007411)	-	4.44	0.045	SPTB, SPTA1
regulation of protein complex disassembly (GO:0043244)	-	5.27	0.002	SPTB, SPTA1
negative regulation of protein complex disassembly (GO:0043242)	-	5.65	0.006	SPTB, SPTA1
regulation of actin filament length (GO:0030832)	-	4.65	0.047	SPTB, SPTA1
cofactor metabolic process (GO:0051186)	NEW	3.91	0.025	SPTB, SPTA1
regulation of actin filament depolymerization (GO:0030834)	-	5.88	0.003	SPTB, SPTA1
negative regulation of actin filament depolymerization (GO:0030835)	-	6.17	0.002	SPTB, SPTA1
negative regulation of actin filament polymerization (GO:0030837)	-	5.94	0.003	SPTB, SPTA1
negative regulation of cytoskeleton organization (GO:0051494)	-	5.01	0.003	SPTB, SPTA1
regulation of cytoskeleton organization (GO:0051493)	-	3.72	0.042	SPTB, SPTA1
cofactor biosynthetic process (GO:0051188)	NEW	4.62	0.043	SPTB, SPTA1
regulation of anatomical structure size (GO:0090066)	-	3.78	0.017	SPTB, SPTA1
tetrapyrrole biosynthetic process (GO:0033014)	NEW	6.36	0.0	SPTB, SPTA1
tetrapyrrole metabolic process (GO:0033013)	NEW	5.65	0.001	SPTB, SPTA1
regulation of protein polymerization (GO:0032271)	-	4.57	0.005	SPTB, SPTA1
negative regulation of protein polymerization (GO:0032272)	-	5.72	0.004	SPTB, SPTA1
hematopoietic or lymphoid organ development (GO:0048534)	NEW	4.49	0.01	SPTB, SPTA1
regulation of actin filament-based process (GO:0032970)	-	3.97	0.022	SPTB, SPTA1
negative regulation of protein complex assembly (GO:0031333)	-	5.07	0.003	SPTB, SPTA1
negative regulation of protein depolymerization (GO:1901880)	-	5.7	0.005	SPTB, SPTA1
regulation of actin filament polymerization (GO:0030833)	-	4.76	0.003	SPTB, SPTA1
single-organism membrane organization (GO:0044802)	NEW	3.19	0.04	SPTB, SPTA1
regulation of actin cytoskeleton organization (GO:0032956)	-	4.09	0.019	SPTB, SPTA1
regulation of protein complex assembly (GO:0043254)	-	3.83	0.019	SPTB, SPTA1
neuron projection guidance (GO:0097485)	-	4.43	0.045	SPTB, SPTA1
actin filament capping (GO:0051693)	-	6.26	0.0	SPTB, SPTA1
negative regulation of organelle organization (GO:0010639)	-	4.07	0.017	SPTB, SPTA1
hemopoiesis (GO:0030097)	NEW	5.07	0.003	SPTB, SPTA1
regulation of cellular component size (GO:0032535)	-	4.21	0.008	SPTB, SPTA1

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
actin cytoskeleton (GO:0015629)	4.39	2	SPTB, SPTA1
intracellular organelle (GO:0043229)	0.51	2	SPTB, SPTA1
non-membrane-bounded organelle (GO:0043228)	1.76	2	SPTB, SPTA1
intrinsic component of plasma membrane (GO:0031226)	2.53	2	SPTB, SPTA1
organelle (GO:0043226)	0.4	2	SPTB, SPTA1
intrinsic component of membrane (GO:0031224)	1.13	2	SPTB, SPTA1
cytoplasm (GO:0005737)	1.01	2	SPTB, SPTA1
cytoskeletal part (GO:0044430)	2.49	2	SPTB, SPTA1
plasma membrane part (GO:0044459)	1.95	2	SPTB, SPTA1
cytoskeleton (GO:0005856)	2.55	2	SPTB, SPTA1
cytoplasmic region (GO:0099568)	4.51	2	SPTB, SPTA1
spectrin-associated cytoskeleton (GO:0014731)	7.72	2	SPTB, SPTA1
cell cortex (GO:0005938)	4.78	2	SPTB, SPTA1
intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	7.09	2	SPTB, SPTA1
spectrin (GO:0008091)	7.61	2	SPTB, SPTA1
intracellular non-membrane-bounded organelle (GO:0043232)	1.76	2	SPTB, SPTA1
cytosol (GO:0005829)	1.68	2	SPTB, SPTA1
cell part (GO:0044464)	0.11	2	SPTB, SPTA1
intracellular organelle part (GO:0044446)	0.81	2	SPTB, SPTA1
cytoplasmic part (GO:0044444)	0.82	2	SPTB, SPTA1
organelle part (GO:0044422)	0.79	2	SPTB, SPTA1
intracellular part (GO:0044424)	0.28	2	SPTB, SPTA1
membrane part (GO:0044425)	0.95	2	SPTB, SPTA1
cell cortex part (GO:0044448)	5.01	2	SPTB, SPTA1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cytoskeleton (GO:0005856)	-	2.55	0.042	SPTB, SPTA1
spectrin (GO:0008091)	-	7.61	0.0	SPTB, SPTA1
actin cytoskeleton (GO:0015629)	-	4.39	0.002	SPTB, SPTA1
intrinsic component of plasma membrane (GO:0031226)	-	2.53	0.001	SPTB, SPTA1
spectrin-associated cytoskeleton (GO:0014731)	-	7.72	0.0	SPTB, SPTA1
intrinsic component of membrane (GO:0031224)	-	1.13	0.004	SPTB, SPTA1
intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	-	7.09	0.0	SPTB, SPTA1
cell cortex part (GO:0044448)	-	5.01	0.001	SPTB, SPTA1