Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4810
Gene name Gene Name - the full gene name approved by the HGNC.	NHS actin remodeling regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NHS
Synonyms (NCBI Gene) Gene synonyms aliases	CTRCT40, CXN, SCML1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CTRCT40
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.2-p22.13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41304731	G>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs104894881	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs111534978	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs132630322	C>T	Pathogenic	Coding sequence variant, stop gained
rs143119491	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs145005596	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs200952266	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs398124608	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398124610	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs398124611	G>A	Pathogenic	Stop gained, coding sequence variant
rs727504040	G>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs727504044	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205255	->C	Pathogenic	Frameshift variant, coding sequence variant
rs786205256	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205257	A>G	Pathogenic	Splice acceptor variant
rs786205677	G>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant
rs864309679	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs875989805	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1064795101	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1341004065	G>A,T	Pathogenic	Genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs1481421967	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555981408	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1555981433	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556030707	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, splice donor variant
rs1556037290	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556038028	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556038232	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556038355	GACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556038653	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556038952	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556039406	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556039548	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556039901	A>T	Pathogenic	Stop gained, coding sequence variant
rs1569310232	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569310288	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569319773	G>A	Pathogenic	Coding sequence variant, stop gained
rs1601838818	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1601859570	AACTC>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(344)

miRTarBase ID	miRNA	Experiments	Reference
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT571665	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT229478	hsa-miR-548n	PAR-CLIP	20371350
MIRT229483	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT229479	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT565898	hsa-miR-548u	PAR-CLIP	20371350
MIRT565896	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT565897	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT565895	hsa-miR-548ab	PAR-CLIP	20371350
MIRT565894	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT565893	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT565892	hsa-miR-548ak	PAR-CLIP	20371350
MIRT565891	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT565890	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT565888	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT565889	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT565887	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT565886	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT565885	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT565884	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT565883	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT565882	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT565881	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT565879	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT565880	hsa-miR-548i	PAR-CLIP	20371350
MIRT565878	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT565877	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT565876	hsa-miR-548w	PAR-CLIP	20371350
MIRT565875	hsa-miR-548y	PAR-CLIP	20371350
MIRT565874	hsa-miR-559	PAR-CLIP	20371350
MIRT565873	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT326891	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT565872	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT565871	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT565870	hsa-miR-5692b	PAR-CLIP	20371350
MIRT565869	hsa-miR-5692c	PAR-CLIP	20371350
MIRT565868	hsa-miR-6076	PAR-CLIP	20371350
MIRT565867	hsa-miR-6797-3p	PAR-CLIP	20371350
MIRT326893	hsa-miR-4775	PAR-CLIP	20371350
MIRT565866	hsa-miR-5011-3p	PAR-CLIP	20371350
MIRT565865	hsa-miR-4666b	PAR-CLIP	20371350
MIRT565864	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT565862	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT565863	hsa-miR-578	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT565857	hsa-miR-1257	PAR-CLIP	20371350
MIRT565858	hsa-miR-3671	PAR-CLIP	20371350
MIRT565856	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT565855	hsa-miR-147a	PAR-CLIP	20371350
MIRT565854	hsa-miR-607	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	20371350
MIRT546537	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565853	hsa-miR-580-5p	PAR-CLIP	20371350
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT565852	hsa-miR-4470	PAR-CLIP	20371350
MIRT546534	hsa-miR-3909	PAR-CLIP	20371350
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	21572407
MIRT546537	hsa-miR-382-5p	PAR-CLIP	21572407
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT546534	hsa-miR-3909	PAR-CLIP	21572407
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	21572407
MIRT504002	hsa-miR-5692a	PAR-CLIP	23446348
MIRT504001	hsa-miR-651-3p	PAR-CLIP	23446348
MIRT504000	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT503999	hsa-miR-8076	PAR-CLIP	23446348
MIRT503998	hsa-miR-889-5p	PAR-CLIP	23446348
MIRT503997	hsa-miR-135a-5p	PAR-CLIP	23446348
MIRT503996	hsa-miR-135b-5p	PAR-CLIP	23446348
MIRT501272	hsa-miR-24-3p	PAR-CLIP	24398324
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501270	hsa-miR-6165	PAR-CLIP	24398324
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	24398324
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	24398324
MIRT501267	hsa-miR-3159	PAR-CLIP	24398324
MIRT501266	hsa-miR-4284	PAR-CLIP	24398324
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	24398324
MIRT501264	hsa-miR-4503	PAR-CLIP	24398324
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	23708386
MIRT443186	hsa-miR-153-5p	PAR-CLIP	23708386
MIRT443185	hsa-miR-9-3p	PAR-CLIP	23708386
MIRT443184	hsa-miR-4477a	PAR-CLIP	23708386
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	22100165
MIRT443186	hsa-miR-153-5p	PAR-CLIP	22100165
MIRT443185	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT443184	hsa-miR-4477a	PAR-CLIP	22100165
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT571665	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT229478	hsa-miR-548n	PAR-CLIP	20371350
MIRT229483	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT229479	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT565898	hsa-miR-548u	PAR-CLIP	20371350
MIRT565896	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT565897	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT565895	hsa-miR-548ab	PAR-CLIP	20371350
MIRT565894	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT565893	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT565892	hsa-miR-548ak	PAR-CLIP	20371350
MIRT565891	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT565890	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT565888	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT565889	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT565887	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT565886	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT565885	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT565884	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT565883	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT565882	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT565881	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT565879	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT565880	hsa-miR-548i	PAR-CLIP	20371350
MIRT565878	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT565877	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT565876	hsa-miR-548w	PAR-CLIP	20371350
MIRT565875	hsa-miR-548y	PAR-CLIP	20371350
MIRT565874	hsa-miR-559	PAR-CLIP	20371350
MIRT565873	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT326891	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT565872	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT565871	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT565870	hsa-miR-5692b	PAR-CLIP	20371350
MIRT565869	hsa-miR-5692c	PAR-CLIP	20371350
MIRT565868	hsa-miR-6076	PAR-CLIP	20371350
MIRT565867	hsa-miR-6797-3p	PAR-CLIP	20371350
MIRT326893	hsa-miR-4775	PAR-CLIP	20371350
MIRT565866	hsa-miR-5011-3p	PAR-CLIP	20371350
MIRT565865	hsa-miR-4666b	PAR-CLIP	20371350
MIRT565864	hsa-miR-4743-3p	PAR-CLIP	20371350
MIRT565862	hsa-miR-4652-3p	PAR-CLIP	20371350
MIRT565863	hsa-miR-578	PAR-CLIP	20371350
MIRT565861	hsa-miR-8084	PAR-CLIP	20371350
MIRT565860	hsa-miR-3163	PAR-CLIP	20371350
MIRT565859	hsa-miR-580-3p	PAR-CLIP	20371350
MIRT565857	hsa-miR-1257	PAR-CLIP	20371350
MIRT565858	hsa-miR-3671	PAR-CLIP	20371350
MIRT565856	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT565855	hsa-miR-147a	PAR-CLIP	20371350
MIRT565854	hsa-miR-607	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	20371350
MIRT546537	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565853	hsa-miR-580-5p	PAR-CLIP	20371350
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT565852	hsa-miR-4470	PAR-CLIP	20371350
MIRT546534	hsa-miR-3909	PAR-CLIP	20371350
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	20371350
MIRT501272	hsa-miR-24-3p	PAR-CLIP	20371350
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	20371350
MIRT501270	hsa-miR-6165	PAR-CLIP	20371350
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT501267	hsa-miR-3159	PAR-CLIP	20371350
MIRT501266	hsa-miR-4284	PAR-CLIP	20371350
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT501264	hsa-miR-4503	PAR-CLIP	20371350
MIRT546538	hsa-miR-495-5p	PAR-CLIP	21572407
MIRT546537	hsa-miR-382-5p	PAR-CLIP	21572407
MIRT546536	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT546534	hsa-miR-3909	PAR-CLIP	21572407
MIRT546535	hsa-miR-6852-3p	PAR-CLIP	21572407
MIRT504002	hsa-miR-5692a	PAR-CLIP	23446348
MIRT504001	hsa-miR-651-3p	PAR-CLIP	23446348
MIRT504000	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT503999	hsa-miR-8076	PAR-CLIP	23446348
MIRT503998	hsa-miR-889-5p	PAR-CLIP	23446348
MIRT503997	hsa-miR-135a-5p	PAR-CLIP	23446348
MIRT503996	hsa-miR-135b-5p	PAR-CLIP	23446348
MIRT501272	hsa-miR-24-3p	PAR-CLIP	24398324
MIRT501271	hsa-miR-5197-5p	PAR-CLIP	24398324
MIRT501270	hsa-miR-6165	PAR-CLIP	24398324
MIRT501269	hsa-miR-4690-5p	PAR-CLIP	24398324
MIRT501268	hsa-miR-6510-5p	PAR-CLIP	24398324
MIRT501267	hsa-miR-3159	PAR-CLIP	24398324
MIRT501266	hsa-miR-4284	PAR-CLIP	24398324
MIRT501265	hsa-miR-6792-5p	PAR-CLIP	24398324
MIRT501264	hsa-miR-4503	PAR-CLIP	24398324
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	23708386
MIRT443186	hsa-miR-153-5p	PAR-CLIP	23708386
MIRT443185	hsa-miR-9-3p	PAR-CLIP	23708386
MIRT443184	hsa-miR-4477a	PAR-CLIP	23708386
MIRT443187	hsa-miR-4760-3p	PAR-CLIP	22100165
MIRT443186	hsa-miR-153-5p	PAR-CLIP	22100165
MIRT443185	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT443184	hsa-miR-4477a	PAR-CLIP	22100165
MIRT1184685	hsa-miR-30a	CLIP-seq
MIRT1184686	hsa-miR-30b	CLIP-seq
MIRT1184687	hsa-miR-30c	CLIP-seq
MIRT1184688	hsa-miR-30d	CLIP-seq
MIRT1184689	hsa-miR-30e	CLIP-seq
MIRT1184690	hsa-miR-3140-3p	CLIP-seq
MIRT1184691	hsa-miR-370	CLIP-seq
MIRT1184692	hsa-miR-4264	CLIP-seq
MIRT1184693	hsa-miR-4328	CLIP-seq
MIRT1184694	hsa-miR-4659a-3p	CLIP-seq
MIRT1184695	hsa-miR-4659b-3p	CLIP-seq
MIRT1184696	hsa-miR-4738-3p	CLIP-seq
MIRT1184697	hsa-miR-4797-3p	CLIP-seq
MIRT1184698	hsa-miR-548a-3p	CLIP-seq
MIRT1184699	hsa-miR-548e	CLIP-seq
MIRT1184700	hsa-miR-548f	CLIP-seq
MIRT1184701	hsa-miR-548g	CLIP-seq
MIRT1184702	hsa-miR-656	CLIP-seq
MIRT1184703	hsa-miR-942	CLIP-seq
MIRT1184704	hsa-miR-1279	CLIP-seq
MIRT1184705	hsa-miR-130a	CLIP-seq
MIRT1184706	hsa-miR-130b	CLIP-seq
MIRT1184707	hsa-miR-148a	CLIP-seq
MIRT1184708	hsa-miR-148b	CLIP-seq
MIRT1184709	hsa-miR-152	CLIP-seq
MIRT1184710	hsa-miR-19a	CLIP-seq
MIRT1184711	hsa-miR-19b	CLIP-seq
MIRT1184712	hsa-miR-300	CLIP-seq
MIRT1184713	hsa-miR-301a	CLIP-seq
MIRT1184714	hsa-miR-301b	CLIP-seq
MIRT1184715	hsa-miR-3074-5p	CLIP-seq
MIRT1184690	hsa-miR-3140-3p	CLIP-seq
MIRT1184716	hsa-miR-3162-5p	CLIP-seq
MIRT1184717	hsa-miR-3666	CLIP-seq
MIRT1184718	hsa-miR-3672	CLIP-seq
MIRT1184719	hsa-miR-3678-3p	CLIP-seq
MIRT1184720	hsa-miR-3691-3p	CLIP-seq
MIRT1184691	hsa-miR-370	CLIP-seq
MIRT1184721	hsa-miR-381	CLIP-seq
MIRT1184692	hsa-miR-4264	CLIP-seq
MIRT1184722	hsa-miR-4295	CLIP-seq
MIRT1184693	hsa-miR-4328	CLIP-seq
MIRT1184723	hsa-miR-4446-5p	CLIP-seq
MIRT1184724	hsa-miR-4471	CLIP-seq
MIRT1184725	hsa-miR-454	CLIP-seq
MIRT1184694	hsa-miR-4659a-3p	CLIP-seq
MIRT1184695	hsa-miR-4659b-3p	CLIP-seq
MIRT1184726	hsa-miR-4666-3p	CLIP-seq
MIRT1184727	hsa-miR-4711-5p	CLIP-seq
MIRT1184697	hsa-miR-4797-3p	CLIP-seq
MIRT1184728	hsa-miR-520d-5p	CLIP-seq
MIRT1184729	hsa-miR-524-5p	CLIP-seq
MIRT1184730	hsa-miR-548aa	CLIP-seq
MIRT1184731	hsa-miR-548ac	CLIP-seq
MIRT1184732	hsa-miR-548ae	CLIP-seq
MIRT1184733	hsa-miR-548aj	CLIP-seq
MIRT1184734	hsa-miR-548am	CLIP-seq
MIRT1184735	hsa-miR-548c-3p	CLIP-seq
MIRT1184736	hsa-miR-548d-3p	CLIP-seq
MIRT1184737	hsa-miR-548x	CLIP-seq
MIRT1184738	hsa-miR-548z	CLIP-seq
MIRT1184739	hsa-miR-664	CLIP-seq
MIRT1184703	hsa-miR-942	CLIP-seq
MIRT2282722	hsa-miR-1272	CLIP-seq
MIRT2282723	hsa-miR-580	CLIP-seq
MIRT2282724	hsa-miR-599	CLIP-seq
MIRT2282725	hsa-miR-329	CLIP-seq
MIRT2282726	hsa-miR-362-3p	CLIP-seq
MIRT2282727	hsa-miR-3941	CLIP-seq
MIRT1184723	hsa-miR-4446-5p	CLIP-seq
MIRT2282728	hsa-miR-4699-3p	CLIP-seq
MIRT1184728	hsa-miR-520d-5p	CLIP-seq
MIRT1184729	hsa-miR-524-5p	CLIP-seq
MIRT2282729	hsa-miR-603	CLIP-seq
MIRT2391552	hsa-miR-1224-3p	CLIP-seq
MIRT2391553	hsa-miR-1260	CLIP-seq
MIRT2391554	hsa-miR-1260b	CLIP-seq
MIRT2391555	hsa-miR-1280	CLIP-seq
MIRT2391556	hsa-miR-150	CLIP-seq
MIRT2391557	hsa-miR-3127-3p	CLIP-seq
MIRT2391558	hsa-miR-4713-5p	CLIP-seq
MIRT2391559	hsa-miR-532-3p	CLIP-seq
MIRT2442418	hsa-miR-221	CLIP-seq
MIRT2442419	hsa-miR-222	CLIP-seq
MIRT2442420	hsa-miR-548v	CLIP-seq
MIRT1184730	hsa-miR-548aa	CLIP-seq
MIRT1184732	hsa-miR-548ae	CLIP-seq
MIRT1184733	hsa-miR-548aj	CLIP-seq
MIRT1184734	hsa-miR-548am	CLIP-seq
MIRT1184737	hsa-miR-548x	CLIP-seq
MIRT2580733	hsa-miR-450b-5p	CLIP-seq
MIRT2580734	hsa-miR-4708-3p	CLIP-seq
MIRT2580735	hsa-miR-4761-5p	CLIP-seq
MIRT1184698	hsa-miR-548a-3p	CLIP-seq
MIRT1184699	hsa-miR-548e	CLIP-seq
MIRT1184700	hsa-miR-548f	CLIP-seq
MIRT2686302	hsa-miR-1271	CLIP-seq
MIRT1184704	hsa-miR-1279	CLIP-seq
MIRT2686303	hsa-miR-182	CLIP-seq
MIRT2686304	hsa-miR-31	CLIP-seq
MIRT2686305	hsa-miR-3138	CLIP-seq
MIRT2686306	hsa-miR-3165	CLIP-seq
MIRT2686307	hsa-miR-335	CLIP-seq
MIRT2580733	hsa-miR-450b-5p	CLIP-seq
MIRT2580734	hsa-miR-4708-3p	CLIP-seq
MIRT2580735	hsa-miR-4761-5p	CLIP-seq
MIRT1184698	hsa-miR-548a-3p	CLIP-seq
MIRT1184699	hsa-miR-548e	CLIP-seq
MIRT1184700	hsa-miR-548f	CLIP-seq
MIRT2686308	hsa-miR-96	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030154	Process	Cell differentiation	IBA	21873635

MIM	HGNC	e!Ensembl
300457	7820	ENSG00000188158

Protein

UniProt ID

Q6T4R5

Protein name

Actin remodeling regulator NHS (Congenital cataracts and dental anomalies protein) (Nance-Horan syndrome protein)

Protein function

May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15273	NHS	439 → 1078	NHS-like	Family

Tissue specificity

TISSUE SPECIFICITY: Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium, placenta, lymphocytes, and fibrob

Sequence

MPFAKRIVEPQWLCRQRRPAPGPAVDASGGSAEPPPPLQPPGRRDLDEVEAPGPEEPARA
VPAPSGLPPPPPPLPAPADQTQPPHGEASVAGEESTAGIPEAAPAAGEASSAAAAAAVLL
MLDLCAVSNAALARVLRQLSDVARHACSLFQELESDIQLTHRRVWALQGKLGGVQRVLST
LDPKQEAVPVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRRE
HRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHFLTFNSTRSPSPTECCHMT
PWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVIS
SCIIPINVTGVGFDREASIRCSLVHSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPV
ARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSA
GNISALADKGDTMFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHER
TPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNS
DTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGS
SHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSFTSTVADLLDDPNNSNTSD
SEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPSDKADTSSHFSVD
TEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRPSI
SFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFANTPSR
MENANLPTKQEPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPY
RSLSNSSTATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLAS
PSSGYSSQSETPTSSFPTAFFSGPLSPGGSKRKPKVPERKSSLQQPSLKDGTISLSKDLE
LPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKS
VNLRSINKSEEVKQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVSRQYSTEDTIL
SFLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPE
NTPTKNCAFPTEGFQRVSAARPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESV
DVITSQSDSPTRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIA
SGISAKSASDNSKAEETQGNVDEASLKESSPSDDSIISPLSEDSQAEAEGVFVSPNKPRT
TEDLFAVIHRSKRKVLGRKDSGDMSVRSKSRAPLSSSSSSASSITSPSSNVTTPNSQRSP
GLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSATEILKSPILPKPPGELTAESPQST
DDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAASSSRYSVRCR
LYNTPMQAISEGETENSDGSPHDDRSSQSST

Sequence length

1651

Interactions

View interactions

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Cataract	Cataract, Embryonal nuclear cataract (disorder), Nuclear cataract, Nuclear non-senile cataract, CATARACT 40, Early-onset nuclear cataract, Total early-onset cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)	24968223, 19414485, 24384146, 11836358, 23566852
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	16736028, 21559051, 24968223, 22229851, 14564667, 11836358, 19414485
Nance-horan syndrome	Nance-Horan syndrome	rs786205255, rs786205256, rs132630322, rs1556030707, rs104894881, rs786205257, rs786205677, rs875989805, rs1556038355, rs1341004065, rs1556039901, rs1556038028, rs1569319773, rs1569310288, rs1569310232 View all (6 more)	18949062, 14564667, 11836358, 24968223, 16357105, 23566852, 20332100
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	22544364
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Autism Spectrum Disorder	Associate	31595719
Cataract	Associate	34014271, 34884523
Cataract congenital with microcornea or slight microphthalmia	Associate	15466011, 19414485
Influenza Human	Stimulate	30131389
Intellectual Disability	Associate	27159028
Nance Horan syndrome	Associate	15466011, 19414485, 29402928, 31916079, 34884523
Neoplasms	Associate	30131389
Pancreatic Neoplasms	Associate	28611293
Prostatic Neoplasms	Associate	36326314

NHS (NHS actin remodeling regulator)