APPBP2

Summary

APPBP2 (amyloid beta precursor protein binding protein 2, HGNC:622) is a protein-coding gene on chromosome 17q23.2, encoding Amyloid protein-binding protein 2 (Q92624). Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation.

The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer’s disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10513 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 48 total — 6 pathogenic, 4 likely-pathogenic
• MANE Select transcript: NM_006380

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:622
Approved symbol	APPBP2
Name	amyloid beta precursor protein binding protein 2
Location	17q23.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0228, Hs.84084, PAT1
Ensembl gene	ENSG00000062725
Ensembl biotype	protein_coding
OMIM	605324
Entrez	10513

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000083182, ENST00000585368, ENST00000588668, ENST00000589341, ENST00000590244, ENST00000592995, ENST00000907578, ENST00000907579, ENST00000907580, ENST00000907581, ENST00000907582, ENST00000907583

RefSeq mRNA: 2 — MANE Select: NM_006380 NM_001282476, NM_006380

CCDS: CCDS32699

Canonical transcript exons

ENST00000083182 — 13 exons

Exon	Start	End
ENSE00001112923	60525794	60526242
ENSE00001205688	60443158	60447834
ENSE00003463415	60451880	60452045
ENSE00003476050	60454302	60454492
ENSE00003502922	60500399	60500487
ENSE00003536649	60464021	60464110
ENSE00003565671	60466291	60466459
ENSE00003632872	60461994	60462061
ENSE00003653907	60494466	60494617
ENSE00003659750	60460663	60460787
ENSE00003674960	60479148	60479271
ENSE00003676788	60461810	60461915
ENSE00003680807	60456296	60456381

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 98.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.9913 / max 386.5913, expressed in 1819 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167388	23.8328	1800
167387	15.2422	1769
167384	1.6542	825
167385	0.1608	74
167386	0.1014	32

Top tissues by expression

300 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.68	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.41	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.38	gold quality
cerebellar vermis	UBERON:0004720	94.95	gold quality
substantia nigra pars compacta	UBERON:0001965	94.74	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.42	gold quality
buccal mucosa cell	CL:0002336	94.28	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	94.24	gold quality
lateral globus pallidus	UBERON:0002476	94.23	gold quality
medial globus pallidus	UBERON:0002477	93.93	gold quality
inferior olivary complex	UBERON:0002127	93.92	gold quality
globus pallidus	UBERON:0001875	93.85	gold quality
renal glomerulus	UBERON:0000074	93.61	gold quality
subthalamic nucleus	UBERON:0001906	93.50	gold quality
middle temporal gyrus	UBERON:0002771	93.50	gold quality
corpus callosum	UBERON:0002336	93.47	gold quality
postcentral gyrus	UBERON:0002581	93.42	gold quality
metanephric glomerulus	UBERON:0004736	93.39	gold quality
endometrium epithelium	UBERON:0004811	93.27	gold quality
CA1 field of hippocampus	UBERON:0003881	93.26	gold quality
choroid plexus epithelium	UBERON:0003911	93.22	gold quality
parietal lobe	UBERON:0001872	93.19	gold quality
entorhinal cortex	UBERON:0002728	93.17	gold quality
adrenal tissue	UBERON:0018303	93.17	gold quality
medulla oblongata	UBERON:0001896	92.99	gold quality
pons	UBERON:0000988	92.95	gold quality
pancreatic ductal cell	CL:0002079	92.69	gold quality
superior vestibular nucleus	UBERON:0007227	92.28	gold quality
superior frontal gyrus	UBERON:0002661	92.18	gold quality
inferior vagus X ganglion	UBERON:0005363	92.16	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.03

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

miRNA regulators (miRDB)

213 targeting APPBP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593

Literature-anchored findings (GeneRIF, showing 4)

• Association of the herpes simplex virus type 1 Us11 gene product with the cellular kinesin light-chain-related protein PAT1 results in the redistribution of both polypeptides. (PMID:12915535)
• It facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunits. (PMID:25194880)
• Circ_SETD3 regulates gefitinib sensitivity and tumor progression by miR-873-5p-dependent regulation of APPBP2 in non-small cell lung cancer. (PMID:34861803)
• CRL2[APPBP2]-mediated TSPYL2 degradation counteracts human mesenchymal stem cell senescence. (PMID:38170390)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	appbp2	ENSDARG00000007566
mus_musculus	Appbp2	ENSMUSG00000018481
rattus_norvegicus	Appbp2	ENSRNOG00000027654

Paralogs (5): KLC3 (ENSG00000104892), NPHP3 (ENSG00000113971), KLC1 (ENSG00000126214), KLC4 (ENSG00000137171), KLC2 (ENSG00000174996)

Protein

Protein identifiers

Amyloid protein-binding protein 2 — Q92624 (reviewed: Q92624)

Alternative names: Amyloid beta precursor protein-binding protein 2, Protein interacting with APP tail 1

All UniProt accessions (4): Q92624, K7EIZ9, K7EN61, K7ENN3

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation. The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms. The CRL2(APPBP2) complex specifically recognizes proteins with a -Arg-Xaa-Xaa-Gly degron at the C-terminus, leading to their ubiquitination and degradation. The CRL2(APPBP2) complex mediates ubiquitination and degradation of truncated SELENOV selenoproteins produced by failed UGA/Sec decoding, which end with a -Arg-Xaa-Xaa-Gly degron. The CRL2(APPBP2) complex negatively regulates beige adipocyte differentiation by mediating ubiquitination and degradation of PRDM16. May play a role in intracellular protein transport: may be involved in the translocation of APP along microtubules toward the cell surface.

Subunit / interactions. Component of a CRL2 E3 ubiquitin-protein ligase complex, also named ECS (Elongin BC-CUL2/5-SOCS-box protein) complex, composed of CUL2, Elongin BC (ELOB and ELOC), RBX1 and substrate-specific adapter APPBP2. Interacts with APP; APP interaction inhibits the E3 ubiquitin-protein ligase activity of the CRL2(APPBP2) complex.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Membrane.

Post-translational modifications. Rapidly degraded by the proteasome upon overexpression of a C-terminal fragment of APP.

Activity regulation. E3 ubiquitin-protein ligase activity of the CRL2(APPBP2) complex is inhibited by APP.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (2): NP_001269405, NP_006371* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR042476	APPBP2	Family

Pfam: PF13374

UniProt features (63 total): helix 31, repeat 8, mutagenesis site 6, sequence conflict 6, turn 6, strand 4, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
8JAU	ELECTRON MICROSCOPY	3.22
8JAQ	ELECTRON MICROSCOPY	3.26
8JAL	ELECTRON MICROSCOPY	3.3
8JAR	ELECTRON MICROSCOPY	3.3
8JAV	ELECTRON MICROSCOPY	3.44
8JAS	ELECTRON MICROSCOPY	3.54

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92624-F1	93.52	0.87

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (6):

Position	Phenotype
345	abolished ability to recognize and bind c-degrons; when associated with a-437.
380	decreased ability to recognize and bind c-degrons; when associated with e-430.
387–388	abolished ability to recognize and bind c-degrons.
430	decreased ability to recognize and bind c-degrons; when associated with e-380.
437	abolished ability to recognize and bind c-degrons; when associated with a-345.
476–479	reduced ability to recognize and bind c-degrons.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 306 (showing top): ATF_B, GCM_MAP4K4, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ATGCAGT_MIR217, CAGCTG_AP4_Q5, MODULE_331, ONKEN_UVEAL_MELANOMA_UP, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, BROWNE_HCMV_INFECTION_14HR_DN, TCCCCAC_MIR491, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN

GO Biological Process (7): intracellular protein transport (GO:0006886), protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), intracellular transport (GO:0046907), ubiquitin-dependent protein catabolic process via the C-end degron rule pathway (GO:0140627), negative regulation of beige fat cell differentiation (GO:0160276), protein transport (GO:0015031)

GO Molecular Function (3): microtubule motor activity (GO:0003777), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), microtubule (GO:0005874), microtubule associated complex (GO:0005875), cytoplasmic vesicle membrane (GO:0030659), Cul2-RING ubiquitin ligase complex (GO:0031462), cytoskeleton (GO:0005856), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular protein localization	2
intracellular anatomical structure	2
transport	2
microtubule cytoskeleton	2
protein transport	1
intracellular transport	1
protein modification by small protein conjugation	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
cellular localization	1
establishment of localization in cell	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of fat cell differentiation	1
beige fat cell differentiation	1
establishment of protein localization	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
enzyme-substrate adaptor activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
polymeric cytoskeletal fiber	1
protein-containing complex	1
vesicle membrane	1
cytoplasmic vesicle	1
cullin-RING ubiquitin ligase complex	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1991 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APPBP2	APP	P05067	861
APPBP2	PPM1D	O15297	842
APPBP2	CHCT1	Q86WR6	555
APPBP2	USP32	Q8NFA0	546
APPBP2	ITPRID2	P28290	518
APPBP2	BCAS3	Q9H6U6	517
APPBP2	KLHDC3	Q9BQ90	516
APPBP2	ISM2	Q6H9L7	492
APPBP2	KLHDC2	Q9Y2U9	488
APPBP2	PATL2	C9JE40	467
APPBP2	SELENOV	P59797	459
APPBP2	SELENOK	Q9Y6D0	454
APPBP2	PTRH2	Q9Y3E5	447
APPBP2	SEPHS2	Q99611	446
APPBP2	APBA2	Q99767	424

IntAct

517 interactions, top by confidence:

A	B	Type	Score
FSTL1	APPBP2	psi-mi:“MI:0915”(physical association)	0.790
APPBP2	FSTL1	psi-mi:“MI:0915”(physical association)	0.790
RRS1	APPBP2	psi-mi:“MI:0915”(physical association)	0.780
APPBP2	GSTP1	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	HSPA4	psi-mi:“MI:0915”(physical association)	0.720
CLCN1	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	FXYD7	psi-mi:“MI:0915”(physical association)	0.720
TAF11	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
COL24A1	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	PEX39	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	ARMCX5	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	KLHL35	psi-mi:“MI:0915”(physical association)	0.720
GCSAM	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	C1orf50	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	LANCL2	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	LUZP4	psi-mi:“MI:0915”(physical association)	0.720
AK3	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	CORO2B	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	LUC7L2	psi-mi:“MI:0915”(physical association)	0.720
HSPA4	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
FXYD7	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	TAF11	psi-mi:“MI:0915”(physical association)	0.720
ARMCX5	APPBP2	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (268): APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid), APPBP2 (Two-hybrid)

ESM2 similar proteins: A0A8J1LLF7, A0A974H8H3, A0MQH0, A4FUD6, A5HK05, B3DLA6, P11029, P11497, P42694, P54198, Q13085, Q25BN1, Q28559, Q4R4U1, Q504Q3, Q5R5F8, Q5R660, Q5R8I6, Q5RCC1, Q5SWU9, Q5ZIT8, Q6DFV5, Q6IE70, Q6NYU2, Q6P1X5, Q6TUI4, Q6TV19, Q80YV4, Q8BGF7, Q8BHL5, Q8BPU7, Q8C176, Q8CIQ7, Q8IZD9, Q8K0F1, Q8R418, Q8R5L3, Q8VHE0, Q923S8, Q92556

Diamond homologs: A5HK05, Q92624, Q9DAX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

48 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	4
Uncertain significance	28
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	Pathogenic
146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	Pathogenic
2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	Pathogenic
443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	Pathogenic
57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	Pathogenic
57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	Pathogenic
1703621	GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	Likely pathogenic
3906902	GRCh37/hg19 17q22-23.2(chr17:56587609-59483412)x1	Likely pathogenic
625757	GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)	Likely pathogenic
974763	NC_000017.10:g.58076721_60362868del	Likely pathogenic

SpliceAI

1798 predictions. Top by Δscore:

Variant	Effect	Δscore
17:60447537:C:A	donor_gain	1.0000
17:60447567:A:C	donor_gain	1.0000
17:60447571:AGGT:A	donor_gain	1.0000
17:60447578:C:A	donor_gain	1.0000
17:60447830:CTTCC:C	acceptor_gain	1.0000
17:60447833:CC:C	acceptor_gain	1.0000
17:60447834:CC:C	acceptor_gain	1.0000
17:60447835:C:CC	acceptor_gain	1.0000
17:60451873:AACAT:A	donor_loss	1.0000
17:60451874:ACATA:A	donor_loss	1.0000
17:60451877:TACCA:T	donor_loss	1.0000
17:60451878:A:AC	donor_gain	1.0000
17:60451878:A:T	donor_loss	1.0000
17:60451879:C:CC	donor_gain	1.0000
17:60451879:CCAA:C	donor_gain	1.0000
17:60451922:A:AC	donor_gain	1.0000
17:60451923:C:CC	donor_gain	1.0000
17:60451978:T:TA	donor_gain	1.0000
17:60452042:CTTC:C	acceptor_gain	1.0000
17:60452043:TTC:T	acceptor_gain	1.0000
17:60452044:TC:T	acceptor_gain	1.0000
17:60452045:CC:C	acceptor_gain	1.0000
17:60452046:C:CC	acceptor_gain	1.0000
17:60452046:CTGA:C	acceptor_loss	1.0000
17:60452047:T:C	acceptor_loss	1.0000
17:60454296:TTCTA:T	donor_loss	1.0000
17:60454297:TCTAC:T	donor_loss	1.0000
17:60454298:CTACC:C	donor_loss	1.0000
17:60454299:TA:T	donor_loss	1.0000
17:60454300:ACCT:A	donor_loss	1.0000

AlphaMissense

3834 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:60447699:C:G	R547P	1.000
17:60447710:C:A	W543C	1.000
17:60447710:C:G	W543C	1.000
17:60447711:C:G	W543S	1.000
17:60447712:A:G	W543R	1.000
17:60447712:A:T	W543R	1.000
17:60447771:A:G	L523P	1.000
17:60447780:A:G	L520P	1.000
17:60447780:A:T	L520H	1.000
17:60447783:C:T	G519D	1.000
17:60447784:C:A	G519C	1.000
17:60447784:C:G	G519R	1.000
17:60447786:C:G	R518P	1.000
17:60447790:A:C	Y517D	1.000
17:60447792:T:A	D516V	1.000
17:60447792:T:G	D516A	1.000
17:60447793:C:A	D516Y	1.000
17:60447793:C:G	D516H	1.000
17:60447795:T:C	Y515C	1.000
17:60447796:A:G	Y515H	1.000
17:60447801:A:G	L513P	1.000
17:60447804:C:T	G512E	1.000
17:60447805:C:G	G512R	1.000
17:60447805:C:T	G512R	1.000
17:60447821:A:C	F506L	1.000
17:60447821:A:T	F506L	1.000
17:60447823:A:G	F506L	1.000
17:60447823:A:T	F506I	1.000
17:60447825:A:G	L505P	1.000
17:60451880:C:A	G502W	1.000

dbSNP variants (sampled 300 via entrez): RS1000020925 (17:60448250 C>T), RS1000024257 (17:60525412 C>A), RS1000045174 (17:60520888 C>T), RS1000113743 (17:60468957 A>T), RS1000169509 (17:60445468 C>T), RS1000185601 (17:60486700 G>A), RS1000193491 (17:60528032 A>C), RS1000195955 (17:60483845 C>G,T), RS1000224689 (17:60509924 T>A), RS1000245079 (17:60525614 G>A,C), RS1000247875 (17:60523386 A>G), RS1000269744 (17:60512175 T>A,G), RS1000277317 (17:60472155 A>G), RS1000346133 (17:60481892 C>A), RS1000422624 (17:60517979 A>G)

Disease associations

OMIM: gene MIM:605324 | disease phenotypes: MIM:613618

GenCC curated gene-disease

Mondo (2): familial clubfoot due to 17q23.1q23.2 microduplication (MONDO:0013329), megacolon (MONDO:0001273)

Orphanet (2): Familial clubfoot with or without associated lower limb anomalies (Orphanet:199315), Familial clubfoot due to 17q23.1q23.2 microduplication (Orphanet:238578)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST008155_14	Waist-hip ratio	7.000000e-06
GCST012198_7	Interleukin-6 levels	5.000000e-06
GCST90002390_121	Mean corpuscular hemoglobin	3.000000e-12
GCST90002392_23	Mean corpuscular volume	7.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004343	waist-hip ratio
EFO:0004810	interleukin-6 measurement
EFO:0004527	mean corpuscular hemoglobin

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008531	Megacolon	C06.405.469.158.701

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
trichostatin A	increases expression, affects cotreatment, decreases expression	3
Valproic Acid	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
bisphenol A	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
testosterone-3-carboxymethyloxime-bovine serum albumin conjugate	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Cadmium	increases abundance, increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Colforsin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Naphthoquinones	increases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Selenium	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_1661	ZR-75-30	Cancer cell line	Female

Clinical trials (associated diseases)

2 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04340856	Not specified	COMPLETED	Retrospective, Uncontrolled Cohort Study on the Therapy of Chronic Megalon
NCT07470892	Not specified	NOT_YET_RECRUITING	Preoperative Fish Oil PN and Prognosis After Constipation Surgery