ACTN1 (actinin alpha 1)

Gene

• Entrez ID: 87
• Gene name: Actinin alpha 1
• Gene symbol: ACTN1
• Synonyms (NCBI Gene): BDPLT15
• Chromosome: 14
• Chromosome location: 14q24.1|14q22-q24
• Summary: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372031019	G>A,C,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs387907345	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907347	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907348	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907349	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907350	C>T	Pathogenic	Coding sequence variant, missense variant
rs747559032	G>A	Pathogenic	Coding sequence variant, missense variant
rs751173836	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs867564562	G>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1555343284	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1594751659	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594751825	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594751831	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594755688	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594756590	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594758038	->CTCCATGGCCCC	Likely-pathogenic	Inframe indel, coding sequence variant
rs1594758046	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594760036	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594760140	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594768463	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771155	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771224	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771236	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1594771270	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594773549	G>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005004	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR	19890957
MIRT016362	hsa-miR-193b-3p	Proteomics	21512034
MIRT023743	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT051157	hsa-miR-16-5p	CLASH	23622248
MIRT039867	hsa-miR-615-3p	CLASH	23622248
MIRT039867	hsa-miR-615-3p	CLASH	23622248
MIRT038768	hsa-miR-93-3p	CLASH	23622248
MIRT005004	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT005004	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT764011	hsa-miR-1250	CLIP-seq
MIRT764012	hsa-miR-19a	CLIP-seq
MIRT764013	hsa-miR-19b	CLIP-seq
MIRT764014	hsa-miR-3617	CLIP-seq
MIRT764015	hsa-miR-641	CLIP-seq
MIRT764016	hsa-miR-1231	CLIP-seq
MIRT764017	hsa-miR-1238	CLIP-seq
MIRT764018	hsa-miR-2113	CLIP-seq
MIRT764019	hsa-miR-218	CLIP-seq
MIRT764020	hsa-miR-3124-3p	CLIP-seq
MIRT764021	hsa-miR-337-3p	CLIP-seq
MIRT764022	hsa-miR-3685	CLIP-seq
MIRT764023	hsa-miR-384	CLIP-seq
MIRT764024	hsa-miR-4288	CLIP-seq
MIRT764025	hsa-miR-4299	CLIP-seq
MIRT764026	hsa-miR-4456	CLIP-seq
MIRT764027	hsa-miR-455-5p	CLIP-seq
MIRT764028	hsa-miR-4643	CLIP-seq
MIRT764029	hsa-miR-490-5p	CLIP-seq
MIRT764030	hsa-miR-501-3p	CLIP-seq
MIRT764031	hsa-miR-502-3p	CLIP-seq
MIRT764032	hsa-miR-548p	CLIP-seq
MIRT764033	hsa-miR-548q	CLIP-seq
MIRT764034	hsa-miR-550a	CLIP-seq
MIRT764035	hsa-miR-587	CLIP-seq
MIRT764036	hsa-miR-610	CLIP-seq
MIRT764037	hsa-miR-621	CLIP-seq
MIRT764038	hsa-miR-632	CLIP-seq
MIRT764039	hsa-miR-636	CLIP-seq
MIRT764040	hsa-miR-767-5p	CLIP-seq
MIRT764041	hsa-miR-129-5p	CLIP-seq
MIRT764042	hsa-miR-1908	CLIP-seq
MIRT764043	hsa-miR-2392	CLIP-seq
MIRT764044	hsa-miR-3141	CLIP-seq
MIRT764045	hsa-miR-3163	CLIP-seq
MIRT764046	hsa-miR-3177-3p	CLIP-seq
MIRT764047	hsa-miR-3668	CLIP-seq
MIRT764048	hsa-miR-410	CLIP-seq
MIRT764027	hsa-miR-455-5p	CLIP-seq
MIRT764028	hsa-miR-4643	CLIP-seq
MIRT764049	hsa-miR-4703-3p	CLIP-seq
MIRT764029	hsa-miR-490-5p	CLIP-seq
MIRT764030	hsa-miR-501-3p	CLIP-seq
MIRT764031	hsa-miR-502-3p	CLIP-seq
MIRT764050	hsa-miR-514	CLIP-seq
MIRT764051	hsa-miR-514b-3p	CLIP-seq
MIRT764052	hsa-miR-548c-3p	CLIP-seq
MIRT764032	hsa-miR-548p	CLIP-seq
MIRT764034	hsa-miR-550a	CLIP-seq
MIRT764053	hsa-miR-564	CLIP-seq
MIRT764036	hsa-miR-610	CLIP-seq
MIRT764037	hsa-miR-621	CLIP-seq
MIRT764054	hsa-miR-659	CLIP-seq
MIRT764055	hsa-miR-663	CLIP-seq
MIRT764040	hsa-miR-767-5p	CLIP-seq
MIRT1925133	hsa-miR-1228	CLIP-seq
MIRT1925134	hsa-miR-1236	CLIP-seq
MIRT1925135	hsa-miR-1253	CLIP-seq
MIRT764041	hsa-miR-129-5p	CLIP-seq
MIRT1925136	hsa-miR-298	CLIP-seq
MIRT1925137	hsa-miR-30a	CLIP-seq
MIRT1925138	hsa-miR-30b	CLIP-seq
MIRT1925139	hsa-miR-30c	CLIP-seq
MIRT1925140	hsa-miR-30d	CLIP-seq
MIRT1925141	hsa-miR-30e	CLIP-seq
MIRT1925142	hsa-miR-3184	CLIP-seq
MIRT764014	hsa-miR-3617	CLIP-seq
MIRT1925143	hsa-miR-3662	CLIP-seq
MIRT1925144	hsa-miR-3678-3p	CLIP-seq
MIRT1925145	hsa-miR-3921	CLIP-seq
MIRT1925146	hsa-miR-423-5p	CLIP-seq
MIRT1925147	hsa-miR-4450	CLIP-seq
MIRT1925148	hsa-miR-450b-5p	CLIP-seq
MIRT1925149	hsa-miR-4649-3p	CLIP-seq
MIRT1925150	hsa-miR-4653-5p	CLIP-seq
MIRT1925151	hsa-miR-4753-3p	CLIP-seq
MIRT1925152	hsa-miR-4775	CLIP-seq
MIRT1925153	hsa-miR-4786-3p	CLIP-seq
MIRT1925154	hsa-miR-507	CLIP-seq
MIRT764052	hsa-miR-548c-3p	CLIP-seq
MIRT1925155	hsa-miR-548g	CLIP-seq
MIRT1925156	hsa-miR-557	CLIP-seq
MIRT764035	hsa-miR-587	CLIP-seq
MIRT1925157	hsa-miR-590-3p	CLIP-seq
MIRT1925158	hsa-miR-607	CLIP-seq
MIRT764015	hsa-miR-641	CLIP-seq
MIRT2166651	hsa-miR-1207-5p	CLIP-seq
MIRT764011	hsa-miR-1250	CLIP-seq
MIRT764012	hsa-miR-19a	CLIP-seq
MIRT764013	hsa-miR-19b	CLIP-seq
MIRT764014	hsa-miR-3617	CLIP-seq
MIRT2166652	hsa-miR-4763-3p	CLIP-seq
MIRT764015	hsa-miR-641	CLIP-seq
MIRT2166653	hsa-miR-940	CLIP-seq
MIRT2166651	hsa-miR-1207-5p	CLIP-seq
MIRT2435178	hsa-miR-1273f	CLIP-seq
MIRT2435179	hsa-miR-1321	CLIP-seq
MIRT2435180	hsa-miR-296-5p	CLIP-seq
MIRT2435181	hsa-miR-3124-5p	CLIP-seq
MIRT2435182	hsa-miR-4270	CLIP-seq
MIRT2435183	hsa-miR-4441	CLIP-seq
MIRT2435184	hsa-miR-4514	CLIP-seq
MIRT2435185	hsa-miR-4645-5p	CLIP-seq
MIRT2435186	hsa-miR-4649-5p	CLIP-seq
MIRT2435187	hsa-miR-4673	CLIP-seq
MIRT2435188	hsa-miR-4692	CLIP-seq
MIRT2435189	hsa-miR-4722-5p	CLIP-seq
MIRT2435190	hsa-miR-4739	CLIP-seq
MIRT2435191	hsa-miR-4756-5p	CLIP-seq
MIRT2166652	hsa-miR-4763-3p	CLIP-seq
MIRT2435192	hsa-miR-4768-3p	CLIP-seq
MIRT2435193	hsa-miR-668	CLIP-seq
MIRT2166653	hsa-miR-940	CLIP-seq
MIRT2166651	hsa-miR-1207-5p	CLIP-seq
MIRT764011	hsa-miR-1250	CLIP-seq
MIRT2469094	hsa-miR-1270	CLIP-seq
MIRT2435178	hsa-miR-1273f	CLIP-seq
MIRT2435179	hsa-miR-1321	CLIP-seq
MIRT2469095	hsa-miR-188-3p	CLIP-seq
MIRT764042	hsa-miR-1908	CLIP-seq
MIRT764018	hsa-miR-2113	CLIP-seq
MIRT764019	hsa-miR-218	CLIP-seq
MIRT764043	hsa-miR-2392	CLIP-seq
MIRT2435180	hsa-miR-296-5p	CLIP-seq
MIRT2469096	hsa-miR-3065-5p	CLIP-seq
MIRT2469097	hsa-miR-3120-3p	CLIP-seq
MIRT2435181	hsa-miR-3124-5p	CLIP-seq
MIRT764044	hsa-miR-3141	CLIP-seq
MIRT2469098	hsa-miR-3160-3p	CLIP-seq
MIRT764046	hsa-miR-3177-3p	CLIP-seq
MIRT2469099	hsa-miR-3192	CLIP-seq
MIRT764021	hsa-miR-337-3p	CLIP-seq
MIRT2469100	hsa-miR-3612	CLIP-seq
MIRT764014	hsa-miR-3617	CLIP-seq
MIRT2469101	hsa-miR-3646	CLIP-seq
MIRT764022	hsa-miR-3685	CLIP-seq
MIRT2469102	hsa-miR-3689d	CLIP-seq
MIRT2469103	hsa-miR-3714	CLIP-seq
MIRT764023	hsa-miR-384	CLIP-seq
MIRT764048	hsa-miR-410	CLIP-seq
MIRT2469104	hsa-miR-4267	CLIP-seq
MIRT2435182	hsa-miR-4270	CLIP-seq
MIRT2469105	hsa-miR-4300	CLIP-seq
MIRT2469106	hsa-miR-4434	CLIP-seq
MIRT2435183	hsa-miR-4441	CLIP-seq
MIRT2469107	hsa-miR-4443	CLIP-seq
MIRT2469108	hsa-miR-4505	CLIP-seq
MIRT2435184	hsa-miR-4514	CLIP-seq
MIRT2469109	hsa-miR-4516	CLIP-seq
MIRT2469110	hsa-miR-4531	CLIP-seq
MIRT2435185	hsa-miR-4645-5p	CLIP-seq
MIRT2435186	hsa-miR-4649-5p	CLIP-seq
MIRT2469111	hsa-miR-4651	CLIP-seq
MIRT2435187	hsa-miR-4673	CLIP-seq
MIRT2435188	hsa-miR-4692	CLIP-seq
MIRT2469112	hsa-miR-4694-3p	CLIP-seq
MIRT2469113	hsa-miR-4698	CLIP-seq
MIRT2469114	hsa-miR-4708-3p	CLIP-seq
MIRT2435189	hsa-miR-4722-5p	CLIP-seq
MIRT2435190	hsa-miR-4739	CLIP-seq
MIRT2435191	hsa-miR-4756-5p	CLIP-seq
MIRT2166652	hsa-miR-4763-3p	CLIP-seq
MIRT2435192	hsa-miR-4768-3p	CLIP-seq
MIRT2469115	hsa-miR-485-5p	CLIP-seq
MIRT2469116	hsa-miR-539	CLIP-seq
MIRT764052	hsa-miR-548c-3p	CLIP-seq
MIRT764053	hsa-miR-564	CLIP-seq
MIRT2469117	hsa-miR-608	CLIP-seq
MIRT2469118	hsa-miR-620	CLIP-seq
MIRT764039	hsa-miR-636	CLIP-seq
MIRT764015	hsa-miR-641	CLIP-seq
MIRT2469119	hsa-miR-650	CLIP-seq
MIRT2469120	hsa-miR-658	CLIP-seq
MIRT764055	hsa-miR-663	CLIP-seq
MIRT2435193	hsa-miR-668	CLIP-seq
MIRT2469121	hsa-miR-920	CLIP-seq
MIRT2469122	hsa-miR-922	CLIP-seq
MIRT2166653	hsa-miR-940	CLIP-seq
MIRT2166651	hsa-miR-1207-5p	CLIP-seq
MIRT2469094	hsa-miR-1270	CLIP-seq
MIRT2435178	hsa-miR-1273f	CLIP-seq
MIRT2435179	hsa-miR-1321	CLIP-seq
MIRT2469095	hsa-miR-188-3p	CLIP-seq
MIRT764042	hsa-miR-1908	CLIP-seq
MIRT764018	hsa-miR-2113	CLIP-seq
MIRT764019	hsa-miR-218	CLIP-seq
MIRT764043	hsa-miR-2392	CLIP-seq
MIRT2435180	hsa-miR-296-5p	CLIP-seq
MIRT2469096	hsa-miR-3065-5p	CLIP-seq
MIRT2469097	hsa-miR-3120-3p	CLIP-seq
MIRT2435181	hsa-miR-3124-5p	CLIP-seq
MIRT764044	hsa-miR-3141	CLIP-seq
MIRT2469098	hsa-miR-3160-3p	CLIP-seq
MIRT764046	hsa-miR-3177-3p	CLIP-seq
MIRT2469099	hsa-miR-3192	CLIP-seq
MIRT764021	hsa-miR-337-3p	CLIP-seq
MIRT2469100	hsa-miR-3612	CLIP-seq
MIRT2469101	hsa-miR-3646	CLIP-seq
MIRT764022	hsa-miR-3685	CLIP-seq
MIRT2469102	hsa-miR-3689d	CLIP-seq
MIRT2469103	hsa-miR-3714	CLIP-seq
MIRT764023	hsa-miR-384	CLIP-seq
MIRT764048	hsa-miR-410	CLIP-seq
MIRT2469104	hsa-miR-4267	CLIP-seq
MIRT2435182	hsa-miR-4270	CLIP-seq
MIRT2469105	hsa-miR-4300	CLIP-seq
MIRT2469106	hsa-miR-4434	CLIP-seq
MIRT2435183	hsa-miR-4441	CLIP-seq
MIRT2469107	hsa-miR-4443	CLIP-seq
MIRT2469108	hsa-miR-4505	CLIP-seq
MIRT2435184	hsa-miR-4514	CLIP-seq
MIRT2469109	hsa-miR-4516	CLIP-seq
MIRT2469110	hsa-miR-4531	CLIP-seq
MIRT2435185	hsa-miR-4645-5p	CLIP-seq
MIRT2435186	hsa-miR-4649-5p	CLIP-seq
MIRT2469111	hsa-miR-4651	CLIP-seq
MIRT2435187	hsa-miR-4673	CLIP-seq
MIRT2435188	hsa-miR-4692	CLIP-seq
MIRT2469112	hsa-miR-4694-3p	CLIP-seq
MIRT2469113	hsa-miR-4698	CLIP-seq
MIRT2469114	hsa-miR-4708-3p	CLIP-seq
MIRT2435189	hsa-miR-4722-5p	CLIP-seq
MIRT2435190	hsa-miR-4739	CLIP-seq
MIRT2435191	hsa-miR-4756-5p	CLIP-seq
MIRT2166652	hsa-miR-4763-3p	CLIP-seq
MIRT2435192	hsa-miR-4768-3p	CLIP-seq
MIRT2469115	hsa-miR-485-5p	CLIP-seq
MIRT2469116	hsa-miR-539	CLIP-seq
MIRT764052	hsa-miR-548c-3p	CLIP-seq
MIRT764053	hsa-miR-564	CLIP-seq
MIRT2469117	hsa-miR-608	CLIP-seq
MIRT2469118	hsa-miR-620	CLIP-seq
MIRT764039	hsa-miR-636	CLIP-seq
MIRT2469119	hsa-miR-650	CLIP-seq
MIRT2469120	hsa-miR-658	CLIP-seq
MIRT764055	hsa-miR-663	CLIP-seq
MIRT2435193	hsa-miR-668	CLIP-seq
MIRT2469121	hsa-miR-920	CLIP-seq
MIRT2469122	hsa-miR-922	CLIP-seq
MIRT2166653	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IBA
GO:0001725	Component	Stress fiber	IDA	11223950
GO:0001725	Component	Stress fiber	IEA
GO:0001726	Component	Ruffle	IDA	11223950
GO:0001726	Component	Ruffle	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	22351778
GO:0003725	Function	Double-stranded RNA binding	IDA	21266579
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IDA	7983147
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	IPI	11223950
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10753915, 10793131, 11101506, 11110697, 12446711, 14623081, 16189514, 16291744, 16464232, 18560563, 20120020, 21653829, 25416956, 25910212, 26496610, 26871637, 30021884, 31515488, 32296183, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IDA	16464232, 23434115
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	23434115, 24069336
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005903	Component	Brush border	IEA
GO:0005911	Component	Cell-cell junction	IDA	11223950
GO:0005916	Component	Fascia adherens	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IDA	11223950
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	IMP	16807302
GO:0007015	Process	Actin filament organization	IMP	23434115
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0017166	Function	Vinculin binding	IDA	11223950
GO:0017166	Function	Vinculin binding	IEA
GO:0017166	Function	Vinculin binding	IPI	15988023
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	7750553
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030168	Process	Platelet activation	IMP	24069336
GO:0030220	Process	Platelet formation	IMP	23434115
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031143	Component	Pseudopodium	IEA
GO:0031143	Component	Pseudopodium	TAS	1629252
GO:0036344	Process	Platelet morphogenesis	IMP	23434115, 24069336
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	11223950
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042981	Process	Regulation of apoptotic process	NAS	16807302
GO:0042995	Component	Cell projection	IBA
GO:0042995	Component	Cell projection	IDA	16464232
GO:0042995	Component	Cell projection	IEA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	17944866, 19943616
GO:0045202	Component	Synapse	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048041	Process	Focal adhesion assembly	IEA
GO:0048041	Process	Focal adhesion assembly	IMP	16807302
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	11223950
GO:0051015	Function	Actin filament binding	IEA
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051639	Process	Actin filament network formation	IMP	24069336
GO:0055001	Process	Muscle cell development	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 21362503, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0070527	Process	Platelet aggregation	IMP	23434115
GO:0098978	Component	Glutamatergic synapse	IDA	29429936
GO:0098978	Component	Glutamatergic synapse	IMP	29429936
GO:0099173	Process	Postsynapse organization	IEA
GO:0099186	Function	Structural constituent of postsynapse	IDA	29429936
GO:0099186	Function	Structural constituent of postsynapse	IMP	29429936

Other IDs

• MIM: 102575
• HGNC: 163
• e!Ensembl: ENSG00000072110

Protein

• UniProt ID: P12814
• Protein name: Alpha-actinin-1 (Alpha-actinin cytoskeletal isoform) (F-actin cross-linking protein) (Non-muscle alpha-actinin-1)
• Protein function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882). {ECO:000026
• PDB: 2EYI, 2EYN, 2N8Y, 2N8Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	31 → 136	Calponin homology (CH) domain	Domain
  PF00307	CH	144 → 251	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	274 → 384	Spectrin repeat	Domain
  PF00435	Spectrin	394 → 499	Spectrin repeat	Domain
  PF00435	Spectrin	509 → 620	Spectrin repeat	Domain
  PF00435	Spectrin	630 → 733	Spectrin repeat	Domain
  PF08726	EFhand_Ca_insen	822 → 888	Ca2+ insensitive EF hand	Domain

• Sequence:

  MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFR
  DGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNV
  KMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFC
  ALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMT
  YVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENR
  VPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRM
  VSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQK
  DYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKIC
  DQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHT
  IEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEI
  NGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEM
  HGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQL
  LTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGY
  DIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDK
  NYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL

• Sequence length: 892

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Likely pathogenic	rs192640536	RCV001270617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTN1-related disorder	Likely pathogenic; Pathogenic	rs747559032	RCV004745580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Likely pathogenic; Pathogenic	rs387907345, rs387907348, rs387907350, rs747559032	RCV000852110 RCV000851589 RCV000851847 RCV001003914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Platelet-type bleeding disorder 15	Pathogenic; Likely pathogenic	rs2140302103, rs769375482, rs2140302263, rs1229450407, rs387907345, rs387907346, rs387907348, rs387907350, rs747559032, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs192640536	RCV002245469 RCV002245472 RCV002261476 RCV002281535 RCV000034866 RCV000034867 RCV000034869 RCV000034871 RCV002245646 RCV000824967 RCV000824965 RCV000824964 RCV000824963 RCV000824962 RCV000824960 RCV001810014	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs1594758038, rs1594758046, rs747559032, rs192640536	RCV000851958 RCV000852037 RCV000851690 RCV001270617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal platelet function	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 15	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	22982105, 31755389	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	17599767	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25636958, 34781416, 37426641	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	20156433		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	38307919	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	ORPHANET_DG	23434115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	BEFREE	24069336, 26453073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28552713		★☆☆☆☆ Found in Text Mining only
BLEEDING DISORDER, PLATELET-TYPE, 15	Platelet-type bleeding disorder	UNIPROT_DG	23434115, 24069336		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 15	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	25949529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 15	Platelet-type bleeding disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 15	Platelet-type bleeding disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	23434115		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	38575196	Associate	★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24662836, 29742177		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29742177, 34546849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34546849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33413564	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28552713		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27137215	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	LHGDN	17525629		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33595762	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	22517884	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	36174041	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	38575196	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31419083	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17192196, 17898132, 36510452	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34802252	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24534470		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35592524	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36768508	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17525629		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26108662, 38307919	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	18408146, 23890478	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	18569926	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25214719	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22736676, 33595762	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37834023	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	25361813	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	30347596	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	36930654	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	30124235		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GWASCAT_DG	26252872		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18408146, 19828047	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32440097	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31237726	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17599767	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	19828047	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32440097	Associate	★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	23434115, 24069336, 25361813, 26453073, 28562514, 30124235, 31237726, 31365757		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	CLINVAR_DG	31064749		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	24662836, 29742177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28552713		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21346779	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	25541946	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	1347195	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	30990797		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30990797		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25844669, 31269666		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	38557732	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	40117808	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27137215	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18353764	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24534470		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32440097	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34546849	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	30351444, 31237726	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombosis	Thrombosis	Pubtator	33413564	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19383904, 36131343	Associate	★☆☆☆☆ Found in Text Mining only