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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10297
Gene name	APC regulator of Wnt signaling pathway 2
Gene symbol	APC2
Synonyms (NCBI Gene)	APCLMRT74
Chromosome	19
Chromosome location	19p13.3
Summary	This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phos

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs559460131	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886040957	CCC>-,CCCC	Pathogenic	Frameshift variant, coding sequence variant, inframe deletion
rs1472207337	C>T	Pathogenic	Coding sequence variant, stop gained
rs1599137041	C>A	Pathogenic	Coding sequence variant, stop gained
rs1599155642	TGGCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599166793	C>-	Pathogenic	Frameshift variant, coding sequence variant

252

Show/Hide all (252)

miRTarBase ID	miRNA	Experiments	Reference
MIRT711934	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT711933	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT711932	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT711931	hsa-miR-4290	HITS-CLIP	19536157
MIRT711930	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT711929	hsa-miR-3648	HITS-CLIP	19536157
MIRT711928	hsa-miR-6785-3p	HITS-CLIP	19536157
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	21572407
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	21572407
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	21572407
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	21572407
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	21572407
MIRT491480	hsa-miR-4679	PAR-CLIP	21572407
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	21572407
MIRT491478	hsa-miR-505-5p	PAR-CLIP	21572407
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	22012620
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	22012620
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	22012620
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	22012620
MIRT491480	hsa-miR-4679	PAR-CLIP	22012620
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	22012620
MIRT491478	hsa-miR-505-5p	PAR-CLIP	22012620
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	23446348
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	23446348
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	23446348
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	23446348
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT491478	hsa-miR-505-5p	PAR-CLIP	23446348
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	23592263
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	23592263
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	23592263
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	23592263
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT491480	hsa-miR-4679	PAR-CLIP	23592263
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT491478	hsa-miR-505-5p	PAR-CLIP	23592263
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	26701625
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	26701625
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	26701625
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	26701625
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	26701625
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	26701625
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	26701625
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	26701625
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	26701625
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	26701625
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	26701625
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	26701625
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	26701625
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	26701625
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	26701625
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	26701625
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	26701625
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	26701625
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	26701625
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	26701625
MIRT491480	hsa-miR-4679	PAR-CLIP	26701625
MIRT491480	hsa-miR-4679	PAR-CLIP	26701625
MIRT491480	hsa-miR-4679	PAR-CLIP	26701625
MIRT491480	hsa-miR-4679	PAR-CLIP	26701625
MIRT491480	hsa-miR-4679	PAR-CLIP	26701625
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	26701625
MIRT491478	hsa-miR-505-5p	PAR-CLIP	26701625
MIRT491478	hsa-miR-505-5p	PAR-CLIP	26701625
MIRT491478	hsa-miR-505-5p	PAR-CLIP	26701625
MIRT491478	hsa-miR-505-5p	PAR-CLIP	26701625
MIRT491478	hsa-miR-505-5p	PAR-CLIP	26701625
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	26701625
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	26701625
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	26701625
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	26701625
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	26701625
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	26701625
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	26701625
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	26701625
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	26701625
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	26701625
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	27292025
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	27292025
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	27292025
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	27292025
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	27292025
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	27292025
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	27292025
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	27292025
MIRT491480	hsa-miR-4679	PAR-CLIP	27292025
MIRT491480	hsa-miR-4679	PAR-CLIP	27292025
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	27292025
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	27292025
MIRT491478	hsa-miR-505-5p	PAR-CLIP	27292025
MIRT491478	hsa-miR-505-5p	PAR-CLIP	27292025
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	27292025
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	27292025
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	27292025
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	27292025
MIRT736533	hsa-miR-193a-3p	RNA-seq	32977388
MIRT711934	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT711933	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT711932	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT711931	hsa-miR-4290	HITS-CLIP	19536157
MIRT711930	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT711929	hsa-miR-3648	HITS-CLIP	19536157
MIRT711928	hsa-miR-6785-3p	HITS-CLIP	19536157
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	21572407
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	21572407
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	21572407
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	21572407
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	21572407
MIRT491480	hsa-miR-4679	PAR-CLIP	21572407
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	21572407
MIRT491478	hsa-miR-505-5p	PAR-CLIP	21572407
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	22012620
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	22012620
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	22012620
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	22012620
MIRT491480	hsa-miR-4679	PAR-CLIP	22012620
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	22012620
MIRT491478	hsa-miR-505-5p	PAR-CLIP	22012620
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	23446348
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	23446348
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	23446348
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	23446348
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT491478	hsa-miR-505-5p	PAR-CLIP	23446348
MIRT491486	hsa-miR-148a-5p	PAR-CLIP	23592263
MIRT491484	hsa-miR-6858-3p	PAR-CLIP	23592263
MIRT491485	hsa-miR-148b-5p	PAR-CLIP	23592263
MIRT491483	hsa-miR-6874-3p	PAR-CLIP	23592263
MIRT491482	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT491480	hsa-miR-4679	PAR-CLIP	23592263
MIRT491481	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT491479	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT491478	hsa-miR-505-5p	PAR-CLIP	23592263
MIRT788919	hsa-miR-1193	CLIP-seq
MIRT788920	hsa-miR-1207-3p	CLIP-seq
MIRT788921	hsa-miR-1237	CLIP-seq
MIRT788922	hsa-miR-1247	CLIP-seq
MIRT788923	hsa-miR-1299	CLIP-seq
MIRT788924	hsa-miR-2909	CLIP-seq
MIRT788925	hsa-miR-3127-3p	CLIP-seq
MIRT788926	hsa-miR-3162-5p	CLIP-seq
MIRT788927	hsa-miR-342-5p	CLIP-seq
MIRT788928	hsa-miR-3675-5p	CLIP-seq
MIRT788929	hsa-miR-378	CLIP-seq
MIRT788930	hsa-miR-378b	CLIP-seq
MIRT788931	hsa-miR-378c	CLIP-seq
MIRT788932	hsa-miR-378d	CLIP-seq
MIRT788933	hsa-miR-378e	CLIP-seq
MIRT788934	hsa-miR-378f	CLIP-seq
MIRT788935	hsa-miR-378h	CLIP-seq
MIRT788936	hsa-miR-378i	CLIP-seq
MIRT788937	hsa-miR-3936	CLIP-seq
MIRT788938	hsa-miR-422a	CLIP-seq
MIRT788939	hsa-miR-4258	CLIP-seq
MIRT788940	hsa-miR-4438	CLIP-seq
MIRT788941	hsa-miR-4493	CLIP-seq
MIRT788942	hsa-miR-4533	CLIP-seq
MIRT788943	hsa-miR-4632	CLIP-seq
MIRT788944	hsa-miR-4641	CLIP-seq
MIRT788945	hsa-miR-4664-5p	CLIP-seq
MIRT788946	hsa-miR-4707-3p	CLIP-seq
MIRT788947	hsa-miR-4728-5p	CLIP-seq
MIRT788948	hsa-miR-4747-3p	CLIP-seq
MIRT788949	hsa-miR-4747-5p	CLIP-seq
MIRT788950	hsa-miR-4782-5p	CLIP-seq
MIRT788951	hsa-miR-486-3p	CLIP-seq
MIRT788952	hsa-miR-516b	CLIP-seq
MIRT1545441	hsa-let-7a	CLIP-seq
MIRT1545442	hsa-let-7b	CLIP-seq
MIRT1545443	hsa-let-7c	CLIP-seq
MIRT1545444	hsa-let-7d	CLIP-seq
MIRT1545445	hsa-let-7e	CLIP-seq
MIRT1545446	hsa-let-7f	CLIP-seq
MIRT1545447	hsa-let-7g	CLIP-seq
MIRT1545448	hsa-let-7i	CLIP-seq
MIRT1545449	hsa-miR-1294	CLIP-seq
MIRT1545450	hsa-miR-155	CLIP-seq
MIRT1545451	hsa-miR-202	CLIP-seq
MIRT788928	hsa-miR-3675-5p	CLIP-seq
MIRT1545452	hsa-miR-4458	CLIP-seq
MIRT1545453	hsa-miR-4500	CLIP-seq
MIRT1545454	hsa-miR-4710	CLIP-seq
MIRT1545455	hsa-miR-98	CLIP-seq
MIRT1920259	hsa-miR-1238	CLIP-seq
MIRT1920260	hsa-miR-3690	CLIP-seq
MIRT1920261	hsa-miR-4254	CLIP-seq
MIRT1920262	hsa-miR-4535	CLIP-seq
MIRT1920263	hsa-miR-4691-5p	CLIP-seq
MIRT1920264	hsa-miR-492	CLIP-seq
MIRT1920259	hsa-miR-1238	CLIP-seq
MIRT1920260	hsa-miR-3690	CLIP-seq
MIRT1920261	hsa-miR-4254	CLIP-seq
MIRT1920262	hsa-miR-4535	CLIP-seq
MIRT1920263	hsa-miR-4691-5p	CLIP-seq
MIRT1920264	hsa-miR-492	CLIP-seq
MIRT1920259	hsa-miR-1238	CLIP-seq
MIRT1920260	hsa-miR-3690	CLIP-seq
MIRT1920261	hsa-miR-4254	CLIP-seq
MIRT1920262	hsa-miR-4535	CLIP-seq
MIRT1920263	hsa-miR-4691-5p	CLIP-seq
MIRT1920264	hsa-miR-492	CLIP-seq
MIRT1545441	hsa-let-7a	CLIP-seq
MIRT1545442	hsa-let-7b	CLIP-seq
MIRT1545443	hsa-let-7c	CLIP-seq
MIRT1545444	hsa-let-7d	CLIP-seq
MIRT1545445	hsa-let-7e	CLIP-seq
MIRT1545446	hsa-let-7f	CLIP-seq
MIRT1545447	hsa-let-7g	CLIP-seq
MIRT1545448	hsa-let-7i	CLIP-seq
MIRT1932729	hsa-miR-1205	CLIP-seq
MIRT788921	hsa-miR-1237	CLIP-seq
MIRT1545449	hsa-miR-1294	CLIP-seq
MIRT788923	hsa-miR-1299	CLIP-seq
MIRT1545450	hsa-miR-155	CLIP-seq
MIRT1932730	hsa-miR-1909	CLIP-seq
MIRT1545451	hsa-miR-202	CLIP-seq
MIRT1932731	hsa-miR-2355-3p	CLIP-seq
MIRT1932732	hsa-miR-3195	CLIP-seq
MIRT788928	hsa-miR-3675-5p	CLIP-seq
MIRT1932733	hsa-miR-3919	CLIP-seq
MIRT1932734	hsa-miR-4448	CLIP-seq
MIRT1932735	hsa-miR-4455	CLIP-seq
MIRT1545452	hsa-miR-4458	CLIP-seq
MIRT1545453	hsa-miR-4500	CLIP-seq
MIRT788943	hsa-miR-4632	CLIP-seq
MIRT788946	hsa-miR-4707-3p	CLIP-seq
MIRT1545454	hsa-miR-4710	CLIP-seq
MIRT1932736	hsa-miR-4733-3p	CLIP-seq
MIRT1932737	hsa-miR-4756-3p	CLIP-seq
MIRT1932738	hsa-miR-4757-5p	CLIP-seq
MIRT788950	hsa-miR-4782-5p	CLIP-seq
MIRT1932739	hsa-miR-4786-5p	CLIP-seq
MIRT788952	hsa-miR-516b	CLIP-seq
MIRT1932740	hsa-miR-604	CLIP-seq
MIRT1932741	hsa-miR-676	CLIP-seq
MIRT1545455	hsa-miR-98	CLIP-seq
MIRT788943	hsa-miR-4632	CLIP-seq
MIRT788949	hsa-miR-4747-5p	CLIP-seq
MIRT788946	hsa-miR-4707-3p	CLIP-seq
MIRT1932738	hsa-miR-4757-5p	CLIP-seq
MIRT1932740	hsa-miR-604	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	25753423
GO:0001708	Process	Cell fate specification	IBA
GO:0005515	Function	Protein binding	IPI	10644998, 10646860
GO:0005737	Component	Cytoplasm	IDA	11691822
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	11691822
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	IBA
GO:0005881	Component	Cytoplasmic microtubule	IDA	10644998, 11691822, 25753423
GO:0005884	Component	Actin filament	IDA	11691822
GO:0007026	Process	Negative regulation of microtubule depolymerization	IBA
GO:0007389	Process	Pattern specification process	IBA
GO:0007399	Process	Nervous system development	IBA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IDA	9823329
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	10644998
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	9823329
GO:0016342	Component	Catenin complex	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030496	Component	Midbody	IDA
GO:0030877	Component	Beta-catenin destruction complex	IBA
GO:0030877	Component	Beta-catenin destruction complex	NAS	9601641
GO:0031256	Component	Leading edge membrane	IEA
GO:0031258	Component	Lamellipodium membrane	IDA	11691822
GO:0031941	Component	Filamentous actin	IDA	25753423
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	9601641
GO:0045171	Component	Intercellular bridge	IDA
GO:0045295	Function	Gamma-catenin binding	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10644998, 10646860, 11691822
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	9823329, 10021369
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	26393419
GO:0090630	Process	Activation of GTPase activity	IMP	25753423
GO:0120025	Component	Plasma membrane bounded cell projection	IEA

MIM	HGNC	e!Ensembl
612034	24036	ENSG00000115266

O95996

Protein name

Adenomatous polyposis coli protein 2 (Adenomatous polyposis coli protein-like) (APC-like)

Protein function

Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16689	APC_N_CC	6 → 57	Coiled-coil N-terminus of APC, dimerisation domain	Coiled-coil
PF11414	Suppressor_APC	124 → 205		Family
PF18797	APC_rep	357 → 431	Adenomatous polyposis coli (APC) repeat	Repeat
PF00514	Arm	614 → 654	Armadillo/beta-catenin-like repeat	Repeat
PF16629	Arm_APC_u3	697 → 959		Disordered
PF05923	APC_r	1054 → 1076	APC repeat	Motif
PF05923	APC_r	1146 → 1168	APC repeat	Motif
PF05923	APC_r	1258 → 1281	APC repeat	Motif
PF05924	SAMP	1335 → 1356	SAMP Motif	Motif
PF05923	APC_r	1386 → 1409	APC repeat	Motif
PF05924	SAMP	1621 → 1642	SAMP Motif	Motif
PF05956	APC_basic	1786 → 2118	APC basic domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (at protein level). Specifically expressed in the CNS. {ECO:0000269|PubMed:10021369, ECO:0000269|PubMed:11691822, ECO:0000269|PubMed:9823329}.

Sequence

MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQE
ARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSF
GELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELPHVETQFSMQM
DLIRQQLEFEAQHIRSLMEERFGTSDEMVQRAQIRASRLEQIDKELLEAQDRVQQTEPQA
LLAVKSVPVDEDPETEVPTHPEDGTPQPGNSKVEVVFWLLSMLATRDQEDTARTLLAMSS
SPESCVAMRRSGCLPLLLQILHGTEAAAGGRAGAPGAPGAKDARMRANAALHNIVFSQPD
QGLARKEMRVLHVLEQIRAYCETCWDWLQARDGGPEGGGAGSAPIPIEPQICQATCAVMK
LSFDEEYRRAMNELGGLQAVAELLQVDYEMHKMTRDPLNLALRRYAGMTLTNLTFGDVAN
KATLCARRGCMEAIVAQLASDSEELHQVVSSILRNLSWRADINSKKVLREAGSVTALVQC
VLRATKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYKCQSNSLAIIESG
GGILRNVSSLVATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSARDQ
ELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKHQAAATAVSPGSCVPSLYV
RKQRALEAELDARHLAQALEHLEKQGPPAAEAATKKPLPPLRHLDGLAQDYASDSGCFDD
DDAPSSLAAAAATGEPASPAALSLFLGSPFLQGQALARTPPTRRGGKEAEKDTSGEAAVA
AKAKAKLALAVARIDQLVEDISALHTSSDDSFSLSSGDPGQEAPREGRAQSCSPCRGPEG
GRREAGSRAHPLLRLKAAHASLSNDSLNSGSASDGYCPREHMLPCPLAALASRREDPRCG
QPRPSRLDLDLPGCQAEPPAREATSADARVRTIKLSPTYQHVPLLEGASRAGAEPLAGPG
ISPGARKQAWLPADHLSKVPEKLAAAPLSVASKALQKLAAQEGPLSLSRCSSLSSLSSAG
RPGPSEGGDLDDSDSSLEGLEEAGPSEAELDSTWRAPGATSLPVAIPAPRRNRGRGLGVE
DATPSSSSENYVQETPLVLSRCSSVSSLGSFESPSIASSIPSEPCSGQGSGTISPSELPD
SPGQTMPPSRSKTPPLAPAPQGPPEATQFSLQWESYVKRFLDIADCRERCRLPSELDAGS
VRFTVEKPDENFSCASSLSALALHEHYVQQDVELRLLPSACPERGGGAGGAGLHFAGHRR
REEGPAPTGSRPRGAADQELELLRECLGAAVPARLRKVASALVPGRRALPVPVYMLVPAP
APAQEDDSCTDSAEGTPVNFSSAASLSDETLQGPPRDQPGGPAGRQRPTGRPTSARQAMG
HRHKAGGAGRSAEQSRGAGKNRAGLELPLGRPPSAPADKDGSKPGRTRGDGALQSLCLTT
PTEEAVYCFYGNDSDEEPPAAAPTPTHRRTSAIPRAFTRERPQGRKEAPAPSKAAPAAPP
PARTQPSLIADETPPCYSLSSSASSLSEPEPSEPPAVHPRGREPAVTKDPGPGGGRDSSP
SPRAAEELLQRCISSALPRRRPPVSGLRRRKPRATRLDERPAEGSRERGEEAAGSDRASD
LDSVEWRAIQEGANSIVTWLHQAAAATREASSESDSILSFVSGLSVGSTLQPPKHRKGRQ
AEGEMGSARRPEKRGAASVKTSGSPRSPAGPEKPRGTQKTTPGVPAVLRGRTVIYVPSPA
PRAQPKGTPGPRATPRKVAPPCLAQPAAPAKVPSPGQQRSRSLHRPAKTSELATLSQPPR
SATPPARLAKTPSSSSSQTSPASQPLPRKRPPVTQAAGALPGPGASPVPKTPARTLLAKQ
HKTQRSPVRIPFMQRPARRGPPPLARAVPEPGPRGRAGTEAGPGARGGRLGLVRVASALS
SGSESSDRSGFRRQLTFIKESPGLRRRRSELSSAESAASAPQGASPRRGRPALPAVFLCS
SRCEELRAAPRQGPAPARQRPPAARPSPGERPARRTTSESPSRLPVRAPAARPETVKRYA
SLPHISVARRPDGAVPAAPASADAARRSSDGEPRPLPRVAAPGTTWRRIRDEDVPHILRS
TLPATALPLRGSTPEDAPAGPPPRKTSDAVVQTEEVAAPKTNSSTSPSLETREPPGAPAG
GQLSLLGSDVDGPSLAKAPISAPFVHEGLGVAVGGFPASRHGSPSRSARVPPFNYVPSPM
VVAATTDSAAEKAPATASATLLE

Sequence length

2303

Interactions

View interactions

	KEGG
	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells Regulation of actin cytoskeleton Cushing syndrome Alzheimer disease Pathways of neurodegeneration - multiple diseases Human papillomavirus infection Pathways in cancer MicroRNAs in cancer Colorectal cancer Endometrial cancer Basal cell carcinoma Breast cancer Hepatocellular carcinoma Gastric cancer

105

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
APC2-related disorder	Likely pathogenic	rs2512495372	RCV003964608
Cortical dysplasia, complex, with other brain malformations 10	Likely pathogenic; Pathogenic	rs200660071, rs2512475700, rs1472207337, rs1599166793, rs1599137041, rs1599155642	RCV003152863 RCV003153051 RCV000856661 RCV000856662 RCV000856663 RCV000856664
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs2083820577	RCV001172287
Intellectual developmental disorder, autosomal recessive 74	Pathogenic; Likely pathogenic	rs1338563418, rs886040957, rs2512463430	RCV001823947 RCV000258004 RCV004595376

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
See cases	Uncertain significance	rs750829429	RCV002252576

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	30779081
Adenomatous Polyposis Coli	Associate	23840886, 29866653
Alzheimer Disease	Associate	26035058
Brain Neoplasms	Inhibit	10551328
Breast Neoplasms	Associate	33503040
Carcinogenesis	Associate	21455633, 30510602
Colitis Ulcerative	Associate	18716850, 30473377
Colorectal Neoplasms	Associate	19190129, 19750230, 21455633, 23840886, 28100780, 30510602, 32951505
Crohn Disease	Associate	32229654
Epilepsy	Associate	37657306, 38523034
Esophageal atresia with or without tracheoesophageal fistula	Associate	32641753
Glioma	Inhibit	10551328
Inflammatory Bowel Diseases	Associate	18716850, 32229654
Intellectual Disability	Associate	37657306, 38523034
Lissencephaly	Associate	31585108
Lymphatic Metastasis	Associate	32951505
Malformations of Cortical Development	Associate	37657306, 38523034
Multiple Myeloma	Associate	34637096
Neoplasms	Associate	21455633, 23840886, 24722208, 30473377
Neoplasms	Inhibit	27986894, 28661420, 30510602
Periventricular Nodular Heterotopia	Associate	31585108
Retinal Dysplasia	Associate	30473377

APC2 (APC regulator of Wnt signaling pathway 2)