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ADD3 (adducin 3)

Gene

120

Adducin 3

ADD3

ADDL, CPSQ3

10q25.1-q25.2

Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143966199	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs564185858	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(321)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016076	hsa-miR-374b-5p	Sequencing	20371350
MIRT022859	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT030536	hsa-miR-24-3p	Microarray	19748357
MIRT437436	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT437436	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT437436	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT437436	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT125869	hsa-miR-1202	HITS-CLIP	23824327
MIRT125875	hsa-miR-3972	HITS-CLIP	23824327
MIRT125880	hsa-miR-5006-5p	HITS-CLIP	23824327
MIRT636738	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT636737	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT561032	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT561031	hsa-miR-5692b	PAR-CLIP	20371350
MIRT561030	hsa-miR-5692c	PAR-CLIP	20371350
MIRT110340	hsa-miR-374a-5p	PAR-CLIP	20371350
MIRT016076	hsa-miR-374b-5p	PAR-CLIP	20371350
MIRT110339	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT110336	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT110338	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT110344	hsa-miR-23c	PAR-CLIP	20371350
MIRT561032	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT561031	hsa-miR-5692b	PAR-CLIP	20371350
MIRT561030	hsa-miR-5692c	PAR-CLIP	20371350
MIRT110340	hsa-miR-374a-5p	PAR-CLIP	20371350
MIRT016076	hsa-miR-374b-5p	PAR-CLIP	20371350
MIRT110339	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT110336	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT110338	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT110344	hsa-miR-23c	PAR-CLIP	20371350
MIRT125863	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT125863	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT125869	hsa-miR-1202	HITS-CLIP	23824327
MIRT125875	hsa-miR-3972	HITS-CLIP	23824327
MIRT125880	hsa-miR-5006-5p	HITS-CLIP	23824327
MIRT636738	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT636737	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT561032	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT561031	hsa-miR-5692b	PAR-CLIP	20371350
MIRT561030	hsa-miR-5692c	PAR-CLIP	20371350
MIRT110340	hsa-miR-374a-5p	PAR-CLIP	20371350
MIRT016076	hsa-miR-374b-5p	PAR-CLIP	20371350
MIRT110339	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT110336	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT110338	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT110344	hsa-miR-23c	PAR-CLIP	20371350
MIRT561032	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT561031	hsa-miR-5692b	PAR-CLIP	20371350
MIRT561030	hsa-miR-5692c	PAR-CLIP	20371350
MIRT110340	hsa-miR-374a-5p	PAR-CLIP	20371350
MIRT016076	hsa-miR-374b-5p	PAR-CLIP	20371350
MIRT110339	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT110336	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT110338	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT110344	hsa-miR-23c	PAR-CLIP	20371350
MIRT768588	hsa-miR-1179	CLIP-seq
MIRT768589	hsa-miR-200b	CLIP-seq
MIRT768590	hsa-miR-200c	CLIP-seq
MIRT768591	hsa-miR-3074-3p	CLIP-seq
MIRT768592	hsa-miR-3149	CLIP-seq
MIRT768593	hsa-miR-323-3p	CLIP-seq
MIRT768594	hsa-miR-3942-5p	CLIP-seq
MIRT768595	hsa-miR-429	CLIP-seq
MIRT768596	hsa-miR-452	CLIP-seq
MIRT768597	hsa-miR-4676-3p	CLIP-seq
MIRT768598	hsa-miR-4699-3p	CLIP-seq
MIRT768599	hsa-miR-4703-5p	CLIP-seq
MIRT768600	hsa-miR-513a-3p	CLIP-seq
MIRT768601	hsa-miR-1197	CLIP-seq
MIRT768602	hsa-miR-143	CLIP-seq
MIRT768603	hsa-miR-300	CLIP-seq
MIRT768604	hsa-miR-3117-3p	CLIP-seq
MIRT768605	hsa-miR-3163	CLIP-seq
MIRT768606	hsa-miR-3662	CLIP-seq
MIRT768607	hsa-miR-381	CLIP-seq
MIRT768608	hsa-miR-4517	CLIP-seq
MIRT768609	hsa-miR-4666-3p	CLIP-seq
MIRT768610	hsa-miR-4712-3p	CLIP-seq
MIRT768611	hsa-miR-4724-5p	CLIP-seq
MIRT768612	hsa-miR-4766-5p	CLIP-seq
MIRT768613	hsa-miR-4770	CLIP-seq
MIRT768614	hsa-miR-887	CLIP-seq
MIRT1545146	hsa-miR-24	CLIP-seq
MIRT1545147	hsa-miR-3121-3p	CLIP-seq
MIRT1545148	hsa-miR-330-3p	CLIP-seq
MIRT1545149	hsa-miR-3672	CLIP-seq
MIRT1545150	hsa-miR-4257	CLIP-seq
MIRT1545151	hsa-miR-4284	CLIP-seq
MIRT1545152	hsa-miR-4633-5p	CLIP-seq
MIRT768610	hsa-miR-4712-3p	CLIP-seq
MIRT1545153	hsa-miR-491-3p	CLIP-seq
MIRT1545154	hsa-miR-579	CLIP-seq
MIRT768610	hsa-miR-4712-3p	CLIP-seq
MIRT1545154	hsa-miR-579	CLIP-seq
MIRT1545149	hsa-miR-3672	CLIP-seq
MIRT768610	hsa-miR-4712-3p	CLIP-seq
MIRT1545154	hsa-miR-579	CLIP-seq
MIRT768601	hsa-miR-1197	CLIP-seq
MIRT768604	hsa-miR-3117-3p	CLIP-seq
MIRT1545146	hsa-miR-24	CLIP-seq
MIRT2167641	hsa-miR-4282	CLIP-seq
MIRT1545151	hsa-miR-4284	CLIP-seq
MIRT1545153	hsa-miR-491-3p	CLIP-seq
MIRT768601	hsa-miR-1197	CLIP-seq
MIRT1545146	hsa-miR-24	CLIP-seq
MIRT1545151	hsa-miR-4284	CLIP-seq
MIRT2383936	hsa-miR-1227	CLIP-seq
MIRT2383937	hsa-miR-199a-5p	CLIP-seq
MIRT2383938	hsa-miR-199b-5p	CLIP-seq
MIRT2383939	hsa-miR-455-5p	CLIP-seq
MIRT2426024	hsa-miR-2054	CLIP-seq
MIRT2426025	hsa-miR-27a	CLIP-seq
MIRT2426026	hsa-miR-27b	CLIP-seq
MIRT768591	hsa-miR-3074-3p	CLIP-seq
MIRT2426027	hsa-miR-3171	CLIP-seq
MIRT2426028	hsa-miR-361-5p	CLIP-seq
MIRT2426029	hsa-miR-3646	CLIP-seq
MIRT2426030	hsa-miR-374c	CLIP-seq
MIRT768610	hsa-miR-4712-3p	CLIP-seq
MIRT2426031	hsa-miR-4803	CLIP-seq
MIRT2426032	hsa-miR-513a-5p	CLIP-seq
MIRT1545154	hsa-miR-579	CLIP-seq
MIRT2426033	hsa-miR-655	CLIP-seq
MIRT2426034	hsa-miR-656	CLIP-seq
MIRT2470232	hsa-miR-1178	CLIP-seq
MIRT2470233	hsa-miR-1229	CLIP-seq
MIRT2470234	hsa-miR-1262	CLIP-seq
MIRT2470235	hsa-miR-1271	CLIP-seq
MIRT2470236	hsa-miR-1299	CLIP-seq
MIRT2470237	hsa-miR-1302	CLIP-seq
MIRT2470238	hsa-miR-149	CLIP-seq
MIRT2470239	hsa-miR-182	CLIP-seq
MIRT2470240	hsa-miR-23a	CLIP-seq
MIRT2470241	hsa-miR-23b	CLIP-seq
MIRT1545146	hsa-miR-24	CLIP-seq
MIRT2470242	hsa-miR-3064-5p	CLIP-seq
MIRT2470243	hsa-miR-3122	CLIP-seq
MIRT2470244	hsa-miR-3128	CLIP-seq
MIRT2470245	hsa-miR-3135	CLIP-seq
MIRT2470246	hsa-miR-3140-3p	CLIP-seq
MIRT2470247	hsa-miR-3145-5p	CLIP-seq
MIRT2470248	hsa-miR-3155	CLIP-seq
MIRT2470249	hsa-miR-3155b	CLIP-seq
MIRT768605	hsa-miR-3163	CLIP-seq
MIRT2470250	hsa-miR-3180-5p	CLIP-seq
MIRT2470251	hsa-miR-3199	CLIP-seq
MIRT2470252	hsa-miR-33a	CLIP-seq
MIRT2470253	hsa-miR-33b	CLIP-seq
MIRT2470254	hsa-miR-340	CLIP-seq
MIRT2470255	hsa-miR-3614-5p	CLIP-seq
MIRT2470256	hsa-miR-3617	CLIP-seq
MIRT2470257	hsa-miR-3620	CLIP-seq
MIRT2470258	hsa-miR-3653	CLIP-seq
MIRT2470259	hsa-miR-3658	CLIP-seq
MIRT2470260	hsa-miR-3671	CLIP-seq
MIRT1545149	hsa-miR-3672	CLIP-seq
MIRT2470261	hsa-miR-374a	CLIP-seq
MIRT2470262	hsa-miR-374b	CLIP-seq
MIRT2470263	hsa-miR-380	CLIP-seq
MIRT2470264	hsa-miR-3908	CLIP-seq
MIRT2470265	hsa-miR-3913-3p	CLIP-seq
MIRT2470266	hsa-miR-3913-5p	CLIP-seq
MIRT2470267	hsa-miR-3919	CLIP-seq
MIRT768594	hsa-miR-3942-5p	CLIP-seq
MIRT2470268	hsa-miR-4263	CLIP-seq
MIRT2470269	hsa-miR-4267	CLIP-seq
MIRT1545151	hsa-miR-4284	CLIP-seq
MIRT2470270	hsa-miR-4298	CLIP-seq
MIRT2470271	hsa-miR-433	CLIP-seq
MIRT2470272	hsa-miR-4424	CLIP-seq
MIRT2470273	hsa-miR-4434	CLIP-seq
MIRT2470274	hsa-miR-4461	CLIP-seq
MIRT2470275	hsa-miR-4464	CLIP-seq
MIRT2470276	hsa-miR-4477a	CLIP-seq
MIRT2470277	hsa-miR-4493	CLIP-seq
MIRT2470278	hsa-miR-450b-5p	CLIP-seq
MIRT2470279	hsa-miR-4516	CLIP-seq
MIRT768608	hsa-miR-4517	CLIP-seq
MIRT2470280	hsa-miR-4531	CLIP-seq
MIRT2470281	hsa-miR-4645-5p	CLIP-seq
MIRT2470282	hsa-miR-4666-5p	CLIP-seq
MIRT2470283	hsa-miR-4673	CLIP-seq
MIRT2470284	hsa-miR-4678	CLIP-seq
MIRT2470285	hsa-miR-4701-3p	CLIP-seq
MIRT768599	hsa-miR-4703-5p	CLIP-seq
MIRT2470286	hsa-miR-4725-5p	CLIP-seq
MIRT2470287	hsa-miR-4729	CLIP-seq
MIRT2470288	hsa-miR-4748	CLIP-seq
MIRT2470289	hsa-miR-4760-5p	CLIP-seq
MIRT2470290	hsa-miR-4766-3p	CLIP-seq
MIRT2470291	hsa-miR-4775	CLIP-seq
MIRT2470292	hsa-miR-4777-5p	CLIP-seq
MIRT2470293	hsa-miR-4782-5p	CLIP-seq
MIRT2470294	hsa-miR-4794	CLIP-seq
MIRT2470295	hsa-miR-4802-5p	CLIP-seq
MIRT2470296	hsa-miR-484	CLIP-seq
MIRT2470297	hsa-miR-487a	CLIP-seq
MIRT2470298	hsa-miR-488	CLIP-seq
MIRT2470299	hsa-miR-489	CLIP-seq
MIRT2470300	hsa-miR-494	CLIP-seq
MIRT2470301	hsa-miR-499-3p	CLIP-seq
MIRT2470302	hsa-miR-499a-3p	CLIP-seq
MIRT2470303	hsa-miR-501-3p	CLIP-seq
MIRT2470304	hsa-miR-502-3p	CLIP-seq
MIRT2470305	hsa-miR-504	CLIP-seq
MIRT2470306	hsa-miR-507	CLIP-seq
MIRT2470307	hsa-miR-516b	CLIP-seq
MIRT2470308	hsa-miR-539	CLIP-seq
MIRT2470309	hsa-miR-548a-3p	CLIP-seq
MIRT2470310	hsa-miR-548c-3p	CLIP-seq
MIRT2470311	hsa-miR-548e	CLIP-seq
MIRT2470312	hsa-miR-548f	CLIP-seq
MIRT2470313	hsa-miR-557	CLIP-seq
MIRT2470314	hsa-miR-576-3p	CLIP-seq
MIRT2470315	hsa-miR-576-5p	CLIP-seq
MIRT1545154	hsa-miR-579	CLIP-seq
MIRT2470316	hsa-miR-580	CLIP-seq
MIRT2470317	hsa-miR-582-5p	CLIP-seq
MIRT2470318	hsa-miR-590-3p	CLIP-seq
MIRT2470319	hsa-miR-603	CLIP-seq
MIRT2470320	hsa-miR-607	CLIP-seq
MIRT2470321	hsa-miR-614	CLIP-seq
MIRT2470322	hsa-miR-641	CLIP-seq
MIRT2426034	hsa-miR-656	CLIP-seq
MIRT2470323	hsa-miR-664	CLIP-seq
MIRT2470324	hsa-miR-760	CLIP-seq
MIRT2470325	hsa-miR-888	CLIP-seq
MIRT2470326	hsa-miR-944	CLIP-seq
MIRT2470327	hsa-miR-96	CLIP-seq
MIRT2470232	hsa-miR-1178	CLIP-seq
MIRT2470233	hsa-miR-1229	CLIP-seq
MIRT2470234	hsa-miR-1262	CLIP-seq
MIRT2470235	hsa-miR-1271	CLIP-seq
MIRT2470237	hsa-miR-1302	CLIP-seq
MIRT2470238	hsa-miR-149	CLIP-seq
MIRT2470239	hsa-miR-182	CLIP-seq
MIRT1545146	hsa-miR-24	CLIP-seq
MIRT2470242	hsa-miR-3064-5p	CLIP-seq
MIRT2470243	hsa-miR-3122	CLIP-seq
MIRT2470244	hsa-miR-3128	CLIP-seq
MIRT2470245	hsa-miR-3135	CLIP-seq
MIRT2470246	hsa-miR-3140-3p	CLIP-seq
MIRT2470247	hsa-miR-3145-5p	CLIP-seq
MIRT2470248	hsa-miR-3155	CLIP-seq
MIRT2470249	hsa-miR-3155b	CLIP-seq
MIRT2470250	hsa-miR-3180-5p	CLIP-seq
MIRT2470251	hsa-miR-3199	CLIP-seq
MIRT2470252	hsa-miR-33a	CLIP-seq
MIRT2470253	hsa-miR-33b	CLIP-seq
MIRT2470255	hsa-miR-3614-5p	CLIP-seq
MIRT2470256	hsa-miR-3617	CLIP-seq
MIRT2470257	hsa-miR-3620	CLIP-seq
MIRT2470258	hsa-miR-3653	CLIP-seq
MIRT2470259	hsa-miR-3658	CLIP-seq
MIRT2470260	hsa-miR-3671	CLIP-seq
MIRT1545149	hsa-miR-3672	CLIP-seq
MIRT2470261	hsa-miR-374a	CLIP-seq
MIRT2470262	hsa-miR-374b	CLIP-seq
MIRT2470263	hsa-miR-380	CLIP-seq
MIRT2470264	hsa-miR-3908	CLIP-seq
MIRT2470265	hsa-miR-3913-3p	CLIP-seq
MIRT2470266	hsa-miR-3913-5p	CLIP-seq
MIRT2470267	hsa-miR-3919	CLIP-seq
MIRT768594	hsa-miR-3942-5p	CLIP-seq
MIRT2470268	hsa-miR-4263	CLIP-seq
MIRT2470269	hsa-miR-4267	CLIP-seq
MIRT1545151	hsa-miR-4284	CLIP-seq
MIRT2470270	hsa-miR-4298	CLIP-seq
MIRT2470271	hsa-miR-433	CLIP-seq
MIRT2470272	hsa-miR-4424	CLIP-seq
MIRT2470273	hsa-miR-4434	CLIP-seq
MIRT2470274	hsa-miR-4461	CLIP-seq
MIRT2470275	hsa-miR-4464	CLIP-seq
MIRT2470276	hsa-miR-4477a	CLIP-seq
MIRT2470278	hsa-miR-450b-5p	CLIP-seq
MIRT2470279	hsa-miR-4516	CLIP-seq
MIRT768608	hsa-miR-4517	CLIP-seq
MIRT2470280	hsa-miR-4531	CLIP-seq
MIRT2470281	hsa-miR-4645-5p	CLIP-seq
MIRT2470283	hsa-miR-4673	CLIP-seq
MIRT2470284	hsa-miR-4678	CLIP-seq
MIRT2470285	hsa-miR-4701-3p	CLIP-seq
MIRT768599	hsa-miR-4703-5p	CLIP-seq
MIRT2470286	hsa-miR-4725-5p	CLIP-seq
MIRT2470287	hsa-miR-4729	CLIP-seq
MIRT2470288	hsa-miR-4748	CLIP-seq
MIRT2470289	hsa-miR-4760-5p	CLIP-seq
MIRT2470290	hsa-miR-4766-3p	CLIP-seq
MIRT2470291	hsa-miR-4775	CLIP-seq
MIRT2470294	hsa-miR-4794	CLIP-seq
MIRT2470295	hsa-miR-4802-5p	CLIP-seq
MIRT2470296	hsa-miR-484	CLIP-seq
MIRT2470297	hsa-miR-487a	CLIP-seq
MIRT2470298	hsa-miR-488	CLIP-seq
MIRT2470299	hsa-miR-489	CLIP-seq
MIRT2470300	hsa-miR-494	CLIP-seq
MIRT2470301	hsa-miR-499-3p	CLIP-seq
MIRT2470302	hsa-miR-499a-3p	CLIP-seq
MIRT2470303	hsa-miR-501-3p	CLIP-seq
MIRT2470304	hsa-miR-502-3p	CLIP-seq
MIRT2470305	hsa-miR-504	CLIP-seq
MIRT2470306	hsa-miR-507	CLIP-seq
MIRT2470308	hsa-miR-539	CLIP-seq
MIRT2470309	hsa-miR-548a-3p	CLIP-seq
MIRT2470310	hsa-miR-548c-3p	CLIP-seq
MIRT2470311	hsa-miR-548e	CLIP-seq
MIRT2470312	hsa-miR-548f	CLIP-seq
MIRT2470313	hsa-miR-557	CLIP-seq
MIRT2470315	hsa-miR-576-5p	CLIP-seq
MIRT1545154	hsa-miR-579	CLIP-seq
MIRT2470316	hsa-miR-580	CLIP-seq
MIRT2470317	hsa-miR-582-5p	CLIP-seq
MIRT2470318	hsa-miR-590-3p	CLIP-seq
MIRT2470319	hsa-miR-603	CLIP-seq
MIRT2470321	hsa-miR-614	CLIP-seq
MIRT2470322	hsa-miR-641	CLIP-seq
MIRT2426034	hsa-miR-656	CLIP-seq
MIRT2470323	hsa-miR-664	CLIP-seq
MIRT2470324	hsa-miR-760	CLIP-seq
MIRT2470325	hsa-miR-888	CLIP-seq
MIRT2470327	hsa-miR-96	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005903	Component	Brush border	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0014069	Component	Postsynaptic density	IBA	21873635
GO:0016020	Component	Membrane	TAS	8893809
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051016	Process	Barbed-end actin filament capping	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS

MIM	HGNC	e!Ensembl
601568	245	ENSG00000148700

Protein

UniProt ID

Q9UEY8

Protein name

Gamma-adducin (Adducin-like protein 70)

Protein function

Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin (Probable). Involved in myogenic reactivity of the renal afferent ar

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00596	Aldolase_II	139 → 321	Class II Aldolase and Adducin N-terminal domain	Domain

Sequence

MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQ
ILQSPAFREDLECLIQEQMKKGHNPTGLLALQQIADYIMANSFSGFSSPPLSLGMVTPIN
DLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLS
FSEATASNLVKVNIIGEVVDQGSTNLKIDHTGFSPHAAIYSTRPDVKCVIHIHTLATAAV
SSMKCGILPISQESLLLGDVAYYDYQGSLEEQEERIQLQKVLGPSCKVLVLRNHGVVALG
ETLEEAFHYIFNVQLACEIQVQALAGAGGVDNLHVLDFQKYKAFTYTVAASGGGGVNMGS
HQKWKVGEIEFEGLMRTLDNLGYRTGYAYRHPLIREKPRHKSDVEIPATVTAFSFEDDTV
PLSPLKYMAQRQQREKTRWLNSPNTYMKVNVPEESRNGETSPRTKITWMKAEDSSKVSGG
TPIKIEDPNQFVPLNTNPNEVLEKRNKIREQNRYDLKTAGPQSQLLAGIVVDKPPSTMQF
EDDDHGPPAPPNPFSHLTEGELEEYKRTIERKQQGLEDAEQELLSDDASSVSQIQSQTQS
PQNVPEKLEENHELFSKSFISMEVPVMVVNGKDDMHDVEDELAKRVSRLSTSTTIENIEI
TIKSPEKIEEVLSPEGSPSKSPSKKKKKFRTPSFLKKNKKKEKVEA

Sequence length

706

Interactions

View interactions

	Reactome
			Miscellaneous transport and binding events

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
Cerebral palsy	Cerebral Palsy, Cerebral Palsy, Spastic Quadriplegic, 1, CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513	23836506
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Spastic diplegia	Little`s Disease	rs672601336
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (9)

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		28072414, 31043756, 31043756
Cerebral ischemia	Brain Ischemia		17901229
Dysphagia	Deglutition Disorders
Exotropia	Exotropia
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy
Hereditary congenital spastic tetraplegia	Inherited congenital spastic tetraplegia
Impaired cognition	Impaired cognition
Manic disorder	Manic, Manic Disorder		31043756
Spastic quadriplegia	Spastic Quadriplegia

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