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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	357
Gene name	Shroom family member 2
Gene symbol	SHROOM2
Synonyms (NCBI Gene)	APXLHSAPXL
Chromosome	X
Chromosome location	Xp22.2
Summary	This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endo

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Show/Hide all (210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038423	hsa-miR-296-3p	CLASH	23622248
MIRT496267	hsa-miR-1910-3p	PAR-CLIP	22291592
MIRT496266	hsa-miR-6511a-5p	PAR-CLIP	22291592
MIRT496265	hsa-miR-6808-5p	PAR-CLIP	22291592
MIRT496264	hsa-miR-6893-5p	PAR-CLIP	22291592
MIRT496263	hsa-miR-940	PAR-CLIP	22291592
MIRT496262	hsa-miR-2682-5p	PAR-CLIP	22291592
MIRT496261	hsa-miR-34b-5p	PAR-CLIP	22291592
MIRT496260	hsa-miR-449c-5p	PAR-CLIP	22291592
MIRT496259	hsa-miR-4717-5p	PAR-CLIP	22291592
MIRT496258	hsa-miR-1972	PAR-CLIP	22291592
MIRT439640	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439640	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT496267	hsa-miR-1910-3p	PAR-CLIP	22291592
MIRT496266	hsa-miR-6511a-5p	PAR-CLIP	22291592
MIRT496265	hsa-miR-6808-5p	PAR-CLIP	22291592
MIRT496264	hsa-miR-6893-5p	PAR-CLIP	22291592
MIRT496263	hsa-miR-940	PAR-CLIP	22291592
MIRT496262	hsa-miR-2682-5p	PAR-CLIP	22291592
MIRT496261	hsa-miR-34b-5p	PAR-CLIP	22291592
MIRT496260	hsa-miR-449c-5p	PAR-CLIP	22291592
MIRT496259	hsa-miR-4717-5p	PAR-CLIP	22291592
MIRT496258	hsa-miR-1972	PAR-CLIP	22291592
MIRT1347809	hsa-miR-105	CLIP-seq
MIRT1347810	hsa-miR-1179	CLIP-seq
MIRT1347811	hsa-miR-1207-3p	CLIP-seq
MIRT1347812	hsa-miR-1254	CLIP-seq
MIRT1347813	hsa-miR-1255a	CLIP-seq
MIRT1347814	hsa-miR-1255b	CLIP-seq
MIRT1347815	hsa-miR-1294	CLIP-seq
MIRT1347816	hsa-miR-150	CLIP-seq
MIRT1347817	hsa-miR-185	CLIP-seq
MIRT1347818	hsa-miR-224	CLIP-seq
MIRT1347819	hsa-miR-2277-3p	CLIP-seq
MIRT1347820	hsa-miR-298	CLIP-seq
MIRT1347821	hsa-miR-300	CLIP-seq
MIRT1347822	hsa-miR-3065-5p	CLIP-seq
MIRT1347823	hsa-miR-3116	CLIP-seq
MIRT1347824	hsa-miR-3135b	CLIP-seq
MIRT1347825	hsa-miR-3157-3p	CLIP-seq
MIRT1347826	hsa-miR-329	CLIP-seq
MIRT1347827	hsa-miR-338-3p	CLIP-seq
MIRT1347828	hsa-miR-362-3p	CLIP-seq
MIRT1347829	hsa-miR-365	CLIP-seq
MIRT1347830	hsa-miR-3662	CLIP-seq
MIRT1347831	hsa-miR-3678-3p	CLIP-seq
MIRT1347832	hsa-miR-381	CLIP-seq
MIRT1347833	hsa-miR-3936	CLIP-seq
MIRT1347834	hsa-miR-3939	CLIP-seq
MIRT1347835	hsa-miR-3941	CLIP-seq
MIRT1347836	hsa-miR-4271	CLIP-seq
MIRT1347837	hsa-miR-4306	CLIP-seq
MIRT1347838	hsa-miR-4310	CLIP-seq
MIRT1347839	hsa-miR-4316	CLIP-seq
MIRT1347840	hsa-miR-4454	CLIP-seq
MIRT1347841	hsa-miR-450b-5p	CLIP-seq
MIRT1347842	hsa-miR-4644	CLIP-seq
MIRT1347843	hsa-miR-4645-3p	CLIP-seq
MIRT1347844	hsa-miR-4679	CLIP-seq
MIRT1347845	hsa-miR-4713-5p	CLIP-seq
MIRT1347846	hsa-miR-4722-3p	CLIP-seq
MIRT1347847	hsa-miR-4725-3p	CLIP-seq
MIRT1347848	hsa-miR-4753-3p	CLIP-seq
MIRT1347849	hsa-miR-4769-3p	CLIP-seq
MIRT1347850	hsa-miR-4775	CLIP-seq
MIRT1347851	hsa-miR-495	CLIP-seq
MIRT1347852	hsa-miR-518a-5p	CLIP-seq
MIRT1347853	hsa-miR-527	CLIP-seq
MIRT1347854	hsa-miR-532-3p	CLIP-seq
MIRT1347855	hsa-miR-582-5p	CLIP-seq
MIRT1347856	hsa-miR-603	CLIP-seq
MIRT1347857	hsa-miR-622	CLIP-seq
MIRT1347858	hsa-miR-634	CLIP-seq
MIRT1347859	hsa-miR-640	CLIP-seq
MIRT1347860	hsa-miR-661	CLIP-seq
MIRT2102983	hsa-miR-125a-3p	CLIP-seq
MIRT2102984	hsa-miR-1264	CLIP-seq
MIRT2102985	hsa-miR-1290	CLIP-seq
MIRT2102986	hsa-miR-1297	CLIP-seq
MIRT2102987	hsa-miR-1305	CLIP-seq
MIRT2102988	hsa-miR-134	CLIP-seq
MIRT2102989	hsa-miR-140-3p	CLIP-seq
MIRT2102990	hsa-miR-23a	CLIP-seq
MIRT2102991	hsa-miR-23b	CLIP-seq
MIRT2102992	hsa-miR-23c	CLIP-seq
MIRT2102993	hsa-miR-26a	CLIP-seq
MIRT2102994	hsa-miR-26b	CLIP-seq
MIRT2102995	hsa-miR-29a	CLIP-seq
MIRT2102996	hsa-miR-29b	CLIP-seq
MIRT2102997	hsa-miR-29c	CLIP-seq
MIRT2102998	hsa-miR-3115	CLIP-seq
MIRT2102999	hsa-miR-3118	CLIP-seq
MIRT2103000	hsa-miR-3124-3p	CLIP-seq
MIRT2103001	hsa-miR-3140-3p	CLIP-seq
MIRT2103002	hsa-miR-3148	CLIP-seq
MIRT2103003	hsa-miR-3152-5p	CLIP-seq
MIRT2103004	hsa-miR-3180-5p	CLIP-seq
MIRT1347826	hsa-miR-329	CLIP-seq
MIRT2103005	hsa-miR-335	CLIP-seq
MIRT1347827	hsa-miR-338-3p	CLIP-seq
MIRT1347828	hsa-miR-362-3p	CLIP-seq
MIRT2103006	hsa-miR-3918	CLIP-seq
MIRT2103007	hsa-miR-3934	CLIP-seq
MIRT1347835	hsa-miR-3941	CLIP-seq
MIRT2103008	hsa-miR-4261	CLIP-seq
MIRT2103009	hsa-miR-4272	CLIP-seq
MIRT2103010	hsa-miR-4434	CLIP-seq
MIRT2103011	hsa-miR-4436b-5p	CLIP-seq
MIRT2103012	hsa-miR-4465	CLIP-seq
MIRT2103013	hsa-miR-4470	CLIP-seq
MIRT2103014	hsa-miR-4516	CLIP-seq
MIRT2103015	hsa-miR-451b	CLIP-seq
MIRT2103016	hsa-miR-4530	CLIP-seq
MIRT2103017	hsa-miR-4641	CLIP-seq
MIRT2103018	hsa-miR-4645-5p	CLIP-seq
MIRT2103019	hsa-miR-4673	CLIP-seq
MIRT2103020	hsa-miR-4690-3p	CLIP-seq
MIRT2103021	hsa-miR-4691-3p	CLIP-seq
MIRT2103022	hsa-miR-4703-3p	CLIP-seq
MIRT1347848	hsa-miR-4753-3p	CLIP-seq
MIRT2103023	hsa-miR-4763-5p	CLIP-seq
MIRT2103024	hsa-miR-4766-3p	CLIP-seq
MIRT2103025	hsa-miR-4773	CLIP-seq
MIRT2103026	hsa-miR-4774-3p	CLIP-seq
MIRT1347850	hsa-miR-4775	CLIP-seq
MIRT2103027	hsa-miR-498	CLIP-seq
MIRT2103028	hsa-miR-5096	CLIP-seq
MIRT2103029	hsa-miR-545	CLIP-seq
MIRT1347856	hsa-miR-603	CLIP-seq
MIRT2103030	hsa-miR-760	CLIP-seq
MIRT2103031	hsa-miR-764	CLIP-seq
MIRT2103032	hsa-miR-875-3p	CLIP-seq
MIRT2103033	hsa-miR-9	CLIP-seq
MIRT2103034	hsa-miR-922	CLIP-seq
MIRT2327317	hsa-miR-1233	CLIP-seq
MIRT2102984	hsa-miR-1264	CLIP-seq
MIRT2102986	hsa-miR-1297	CLIP-seq
MIRT2102989	hsa-miR-140-3p	CLIP-seq
MIRT2327318	hsa-miR-149	CLIP-seq
MIRT2327319	hsa-miR-218	CLIP-seq
MIRT2327320	hsa-miR-22	CLIP-seq
MIRT2102993	hsa-miR-26a	CLIP-seq
MIRT2102994	hsa-miR-26b	CLIP-seq
MIRT2327321	hsa-miR-28-5p	CLIP-seq
MIRT2102995	hsa-miR-29a	CLIP-seq
MIRT2102996	hsa-miR-29b	CLIP-seq
MIRT2102997	hsa-miR-29c	CLIP-seq
MIRT2103000	hsa-miR-3124-3p	CLIP-seq
MIRT2327322	hsa-miR-3139	CLIP-seq
MIRT2103004	hsa-miR-3180-5p	CLIP-seq
MIRT2327323	hsa-miR-3591-3p	CLIP-seq
MIRT2327324	hsa-miR-3616-5p	CLIP-seq
MIRT2327325	hsa-miR-3647-5p	CLIP-seq
MIRT1347830	hsa-miR-3662	CLIP-seq
MIRT2327326	hsa-miR-3664-3p	CLIP-seq
MIRT2327327	hsa-miR-3691-5p	CLIP-seq
MIRT2327328	hsa-miR-3911	CLIP-seq
MIRT2103006	hsa-miR-3918	CLIP-seq
MIRT2327329	hsa-miR-3942-3p	CLIP-seq
MIRT2327330	hsa-miR-4257	CLIP-seq
MIRT2103009	hsa-miR-4272	CLIP-seq
MIRT2327331	hsa-miR-4286	CLIP-seq
MIRT2327332	hsa-miR-4290	CLIP-seq
MIRT2327333	hsa-miR-4301	CLIP-seq
MIRT2327334	hsa-miR-4320	CLIP-seq
MIRT2327335	hsa-miR-4433	CLIP-seq
MIRT2103010	hsa-miR-4434	CLIP-seq
MIRT2327336	hsa-miR-4459	CLIP-seq
MIRT2103012	hsa-miR-4465	CLIP-seq
MIRT2103013	hsa-miR-4470	CLIP-seq
MIRT2327337	hsa-miR-4471	CLIP-seq
MIRT2103014	hsa-miR-4516	CLIP-seq
MIRT2103018	hsa-miR-4645-5p	CLIP-seq
MIRT2103019	hsa-miR-4673	CLIP-seq
MIRT2327338	hsa-miR-4685-5p	CLIP-seq
MIRT2327339	hsa-miR-4687-5p	CLIP-seq
MIRT2103021	hsa-miR-4691-3p	CLIP-seq
MIRT2327340	hsa-miR-4715-3p	CLIP-seq
MIRT2327341	hsa-miR-4733-3p	CLIP-seq
MIRT2327342	hsa-miR-4752	CLIP-seq
MIRT1347848	hsa-miR-4753-3p	CLIP-seq
MIRT2327343	hsa-miR-4768-3p	CLIP-seq
MIRT2327344	hsa-miR-4795-5p	CLIP-seq
MIRT2327345	hsa-miR-4796-5p	CLIP-seq
MIRT2327346	hsa-miR-554	CLIP-seq
MIRT2327347	hsa-miR-573	CLIP-seq
MIRT2327348	hsa-miR-595	CLIP-seq
MIRT2327349	hsa-miR-636	CLIP-seq
MIRT2327350	hsa-miR-708	CLIP-seq
MIRT2103033	hsa-miR-9	CLIP-seq
MIRT2394507	hsa-miR-1267	CLIP-seq
MIRT2102990	hsa-miR-23a	CLIP-seq
MIRT2102991	hsa-miR-23b	CLIP-seq
MIRT2102992	hsa-miR-23c	CLIP-seq
MIRT2102995	hsa-miR-29a	CLIP-seq
MIRT2102996	hsa-miR-29b	CLIP-seq
MIRT2102997	hsa-miR-29c	CLIP-seq
MIRT1347826	hsa-miR-329	CLIP-seq
MIRT1347828	hsa-miR-362-3p	CLIP-seq
MIRT2103006	hsa-miR-3918	CLIP-seq
MIRT1347835	hsa-miR-3941	CLIP-seq
MIRT2103017	hsa-miR-4641	CLIP-seq
MIRT2394508	hsa-miR-466	CLIP-seq
MIRT2394509	hsa-miR-4672	CLIP-seq
MIRT2103020	hsa-miR-4690-3p	CLIP-seq
MIRT2394510	hsa-miR-4789-3p	CLIP-seq
MIRT1347856	hsa-miR-603	CLIP-seq
MIRT2103017	hsa-miR-4641	CLIP-seq
MIRT2103020	hsa-miR-4690-3p	CLIP-seq
MIRT2622580	hsa-miR-4422	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IDA	16684770
GO:0000902	Process	Cell morphogenesis	ISS	16684770
GO:0002089	Process	Lens morphogenesis in camera-type eye	ISS
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	ISS
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	ISS	16684770
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0007015	Process	Actin filament organization	IBA
GO:0007420	Process	Brain development	ISS
GO:0008013	Function	Beta-catenin binding	ISS	16684770
GO:0008057	Process	Eye pigment granule organization	ISS
GO:0015280	Function	Ligand-gated sodium channel activity	TAS	7795590
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS	16684770
GO:0016477	Process	Cell migration	ISS
GO:0030864	Component	Cortical actin cytoskeleton	IDA	16684770
GO:0030864	Component	Cortical actin cytoskeleton	ISS	16684770
GO:0032401	Process	Establishment of melanosome localization	ISS
GO:0032438	Process	Melanosome organization	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0043010	Process	Camera-type eye development	ISS
GO:0043296	Component	Apical junction complex	IBA
GO:0043482	Process	Cellular pigment accumulation	ISS
GO:0043583	Process	Ear development	ISS
GO:0045176	Process	Apical protein localization	ISS
GO:0048593	Process	Camera-type eye morphogenesis	ISS
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS	16684770
GO:0051017	Process	Actin filament bundle assembly	ISS	16684770
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
300103	630	ENSG00000146950

Q13796

Protein name

Protein Shroom2 (Apical-like protein) (Protein APXL)

Protein function

May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redi

PDB

5F4Y , 5F5P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	26 → 105	PDZ domain	Domain
PF08688	ASD1	640 → 806	Apx/Shroom domain ASD1	Family
PF08687	ASD2	1318 → 1610	Apx/Shroom domain ASD2	Family

Tissue specificity

TISSUE SPECIFICITY: Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas.

Sequence

MEGAEPRARPERLAEAETRAADGGRLVEVQLSGGAPWGFTLKGGREHGEPLVITKIEEGS
KAAAVDKLLAGDEIVGINDIGLSGFRQEAICLVKGSHKTLKLVVKRRSELGWRPHSWHAT
KFSDSHPELAASPFTSTSGCPSWSGRHHASSSSHDLSSSWEQTNLQRTLDHFSSLGSVDS
LDHPSSRLSVAKSNSSIDHLGSHSKRDSAYGSFSTSSSTPDHTLSKADTSSAENILYTVG
LWEAPRQGGRQAQAAGDPQGSEEKLSCFPPRVPGDSGKGPRPEYNAEPKLAAPGRSNFGP
VWYVPDKKKAPSSPPPPPPPLRSDSFAATKSHEKAQGPVFSEAAAAQHFTALAQAQPRGD
RRPELTDRPWRSAHPGSLGKGSGGPGCPQEAHADGSWPPSKDGASSRLQASLSSSDVRFP
QSPHSGRHPPLYSDHSPLCADSLGQEPGAASFQNDSPPQVRGLSSCDQKLGSGWQGPRPC
VQGDLQAAQLWAGCWPSDTALGALESLPPPTVGQSPRHHLPQPEGPPDARETGRCYPLDK
GAEGCSAGAQEPPRASRAEKASQRLAASITWADGESSRICPQETPLLHSLTQEGKRRPES
SPEDSATRPPPFDAHVGKPTRRSDRFATTLRNEIQMHRAKLQKSRSTVALTAAGEAEDGT
GRWRAGLGGGTQEGPLAGTYKDHLKEAQARVLRATSFKRRDLDPNPGDLYPESLEHRMGD
PDTVPHFWEAGLAQPPSSTSGGPHPPRIGGRRRFTAEQKLKSYSEPEKMNEVGLTRGYSP
HQHPRTSEDTVGTFADRWKFFEETSKPVPQRPAQKQALHGIPRDKPERPRTAGRTCEGTE
PWSRTTSLGDSLNAHSAAEKAGTSDLPRRLGTFAEYQASWKEQRKPLEARSSGRCHSADD
ILDVSLDPQERPQHVHGRSRSSPSTDHYKQEASVELRRQAGDPGEPREELPSAVRAEEGQ
STPRQADAQCREGSPGSQQHPPSQKAPNPPTFSELSHCRGAPELPREGRGRAGTLPRDYR
YSEESTPADLGPRAQSPGSPLHARGQDSWPVSSALLSKRPAPQRPPPPKREPRRYRATDG
APADAPVGVLGRPFPTPSPASLDVYVARLSLSHSPSVFSSAQPQDTPKATVCERGSQHVS
GDASRPLPEALLPPKQQHLRLQTATMETSRSPSPQFAPQKLTDKPPLLIQDEDSTRIERV
MDNNTTVKMVPIKIVHSESQPEKESRQSLACPAEPPALPHGLEKDQIKTLSTSEQFYSRF
CLYTRQGAEPEAPHRAQPAEPQPLGTQVPPEKDRCTSPPGLSYMKAKEKTVEDLKSEELA
REIVGKDKSLADILDPSVKIKTTMDLMEGIFPKDEHLLEEAQQRRKLLPKIPSPRSTEER
KEEPSVPAAVSLATNSTYYSTSAPKAELLIKMKDLQEQQEHEEDSGSDLDHDLSVKKQEL
IESISRKLQVLREARESLLEDVQANTVLGAEVEAIVKGVCKPSEFDKFRMFIGDLDKVVN
LLLSLSGRLARVENALNNLDDGASPGDRQSLLEKQRVLIQQHEDAKELKENLDRRERIVF
DILANYLSEESLADYEHFVKMKSALIIEQRELEDKIHLGEEQLKCLLDSLQPERGK

Sequence length

1616

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Meniere disease	Likely pathogenic	rs138558321	RCV001797192

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Likely benign	rs150231382	RCV005932351
SHROOM2-related disorder	Likely benign; Benign; Uncertain significance	rs200100847, rs16985782, rs61739700, rs6640543, rs61739329, rs150556964, rs201837863, rs12012202, rs374862299, rs61752518, rs16985805, rs367727332, rs184423737, rs201847453, rs746770133 View all (30 more)	RCV003929191 RCV003919833 RCV003929839 RCV003974372 RCV003897335 RCV003974129 RCV003982382 RCV003914261 RCV003916896 RCV003916904 RCV003964411 RCV003911399 RCV003909735 RCV003934027 RCV003944210 RCV003981273 RCV003917111 RCV003931465 RCV003931771 RCV003941422 RCV003939730 RCV003949801 RCV003961377 RCV003914579 RCV003917386 RCV003924463 RCV003939353 RCV003944742 RCV003922219 RCV003924241 RCV003944286 RCV003946793 RCV003979146 RCV003981983 RCV003971553 RCV003971831 RCV003976570 RCV003972267 RCV003976718 RCV003969135 RCV003966769 RCV003972130 RCV003976329 RCV003916008 RCV003915969 RCV003926260

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	22245343
Colorectal Neoplasms	Associate	24760461
Neural Tube Defects	Associate	29423651
Root Resorption	Associate	38546524

SHROOM2 (shroom family member 2)