AGGF1

Summary

AGGF1 (angiogenic factor with G-patch and FHA domains 1, HGNC:24684) is a protein-coding gene on chromosome 5q13.3, encoding Angiogenic factor with G patch and FHA domains 1 (Q8N302). Promotes angiogenesis and the proliferation of endothelial cells.

This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.

Source: NCBI Gene 55109 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 119 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 31
• MANE Select transcript: NM_018046

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24684
Approved symbol	AGGF1
Name	angiogenic factor with G-patch and FHA domains 1
Location	5q13.3
Locus type	gene with protein product
Status	Approved
Aliases	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7
Ensembl gene	ENSG00000164252
Ensembl biotype	protein_coding
OMIM	608464
Entrez	55109

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000312916, ENST00000502408, ENST00000503538, ENST00000506806, ENST00000871352, ENST00000871353, ENST00000920272, ENST00000920273, ENST00000949072

RefSeq mRNA: 1 — MANE Select: NM_018046 NM_018046

CCDS: CCDS4035

Canonical transcript exons

ENST00000312916 — 14 exons

Exon	Start	End
ENSE00000827289	77052706	77052807
ENSE00000827290	77053965	77054130
ENSE00001163400	77061703	77061802
ENSE00001163410	77059616	77059743
ENSE00001163419	77055514	77055596
ENSE00001250646	77048936	77048987
ENSE00001250665	77063052	77065234
ENSE00001251474	77030404	77030976
ENSE00001340882	77046347	77046677
ENSE00001362097	77048161	77048272
ENSE00001373098	77039531	77039719
ENSE00003520662	77034418	77034520
ENSE00003583663	77035541	77035743
ENSE00003584297	77036556	77036720

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 91.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.4897 / max 229.6578, expressed in 1801 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57171	22.2326	1801
57172	0.2570	82

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
choroid plexus epithelium	UBERON:0003911	91.17	gold quality
epithelium of nasopharynx	UBERON:0001951	90.81	gold quality
palpebral conjunctiva	UBERON:0001812	90.35	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.16	gold quality
germinal epithelium of ovary	UBERON:0001304	89.94	gold quality
visceral pleura	UBERON:0002401	89.87	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.83	gold quality
parietal pleura	UBERON:0002400	89.72	gold quality
corpus epididymis	UBERON:0004359	89.56	gold quality
pleura	UBERON:0000977	89.50	gold quality
middle temporal gyrus	UBERON:0002771	89.33	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.27	gold quality
jejunal mucosa	UBERON:0000399	89.13	gold quality
esophagus squamous epithelium	UBERON:0006920	88.69	gold quality
endothelial cell	CL:0000115	88.54	gold quality
pigmented layer of retina	UBERON:0001782	88.52	gold quality
substantia nigra pars compacta	UBERON:0001965	88.52	gold quality
retina	UBERON:0000966	88.50	gold quality
tibia	UBERON:0000979	88.08	gold quality
biceps brachii	UBERON:0001507	87.91	gold quality
adrenal tissue	UBERON:0018303	87.46	gold quality
calcaneal tendon	UBERON:0003701	87.40	gold quality
jejunum	UBERON:0002115	87.32	gold quality
upper leg skin	UBERON:0004262	86.94	gold quality
pons	UBERON:0000988	86.82	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.64	gold quality
synovial joint	UBERON:0002217	86.50	gold quality
skin of hip	UBERON:0001554	86.35	gold quality
lateral nuclear group of thalamus	UBERON:0002736	86.34	gold quality
gingival epithelium	UBERON:0001949	86.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA1

miRNA regulators (miRDB)

110 targeting AGGF1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4282	99.99	75.36	6408
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-4775	99.98	75.00	6394
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-374A-5P	99.90	71.34	2923

Literature-anchored findings (GeneRIF, showing 21)

• results define VG5Q as an angiogenic factor, establish VG5Q as a susceptibility gene for Klippel-Trenaunay syndrome, and show that increased angiogenesis is a molecular pathogenic mechanism of KTS (PMID:14961121)
• VG5Q, E133K is a mutation that causes Klippel-Trenaunay and other overgrowth syndromes. (PMID:16443853)
• This review describes the somatic mutation for angiogenic factor VG5Q, which may be the cause of the multisystem disorder Klippel-Trenaunay syndrome. (PMID:16911369)
• identified two tagSNPs, rs13155212 and rs7704267 that capture information for all common variants in AGGF1 as a candidate susceptibility gene for Klippel-Trenaunay syndrome (PMID:18564129)
• Knockdown of GATA1 expression by siRNA reduced expression of AGGF1, and resulted in endothelial cell apoptosis and inhibition of vessel formation. (PMID:19556247)
• analysis of sphingolipid modulation of angiogenic factor expression in neuroblastoma (PMID:21576349)
• AGGF1 potently attenuated TNF-alpha triggered NF-kappaB pathway, as indicated by the decreased promoter activity, nuclear distribution and phosphorylation of NF-kappaB p65 subunit as well as the increased protein level of IkappaBalpha. (PMID:23628701)
• results of this study indicate that hypoxia down-regulates expression of the AGGF1 protein, but not AGGF1 mRNA, by inducing expression of miR-27a (PMID:24462738)
• AGGF1 reduces myocardial apoptosis and inflammation and enhances angiogenesis, leading to decreased infarct size after I/R injury. (PMID:24893993)
• Overexpression of AGGF1 is correlated with angiogenesis in hepatocellular carcinoma. (PMID:25796501)
• AGGF1 gene polymorphism does not affect the risk of varicose veins of the legs in ethnic Russians. (PMID:27704351)
• Aggf1 has a role in regulating vascular injury. (PMID:28153879)
• High expression of AGGF1 predicts poor prognosis in gastric cancer patients. (PMID:28289272)
• LncRNA OR3A4 participates in the angiogenesis of hepatocellular carcinoma through modulating AGGF1/akt/mTOR pathway (PMID:30710550)
• At the protein level, AGGF1 expression in colorectal cancer (CRC) tissues was higher than in paired normal mucosa, which showed a clear association with TNM stage, AJCC stage, vascular invasion, and differentiation. An apparent correlation between AGGF1 expression and poorer disease-free survival and overall survival of CRC patients was revealed. (PMID:31881864)
• Angiogenic Factor with G Patch and FHA Domains 1 (AGGF1) Acts as Diagnostic Biomarker and Adverse Prognostic Factor of Hepatocellular Carcinoma (HCC): Evidence from Bioinformatic Analysis. (PMID:32090983)
• Angiogenic factor with G patch and FHA domains 1 protects retinal vascular endothelial cells under hyperoxia by inhibiting autophagy. (PMID:32633013)
• AGGF1 inhibits the expression of inflammatory mediators and promotes angiogenesis in dental pulp cells. (PMID:32789654)
• Angiogenic factor AGGF1 acts as a tumor suppressor by modulating p53 post-transcriptional modifications and stability via MDM2. (PMID:33069768)
• Receptor and Molecular Mechanism of AGGF1 Signaling in Endothelial Cell Functions and Angiogenesis. (PMID:34551592)
• Decreased AGGF1 facilitates the progression of placenta accreta spectrum via mediating the P53 signaling pathway under the regulation of miR-1296-5p. (PMID:36753931)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	aggf1	ENSDARG00000060109
mus_musculus	Aggf1	ENSMUSG00000021681
rattus_norvegicus	Aggf1	ENSRNOG00000029304
drosophila_melanogaster	CG8079	FBGN0034002
caenorhabditis_elegans		WBGENE00013224

Protein

Protein identifiers

Angiogenic factor with G patch and FHA domains 1 — Q8N302 (reviewed: Q8N302)

Alternative names: Angiogenic factor VG5Q, G patch domain-containing protein 7, Vasculogenesis gene on 5q protein

All UniProt accessions (2): Q8N302, H0Y8F8

UniProt curated annotations — full annotation on UniProt →

Function. Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.

Subunit / interactions. Interacts with the secreted angiogenic factor TNFSF12.

Subcellular location. Cytoplasm. Secreted.

Tissue specificity. Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N302-1	1	yes
Q8N302-2	2
Q8N302-3	3

RefSeq proteins (1): NP_060516* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000253	FHA_dom	Domain
IPR000467	G_patch_dom	Domain
IPR008984	SMAD_FHA_dom_sf	Homologous_superfamily
IPR035624	AGGF1_OCRE	Domain
IPR041591	OCRE	Domain
IPR053027	AGGF1	Family

Pfam: PF00498, PF01585, PF17780

UniProt features (30 total): compositionally biased region 6, modified residue 5, region of interest 5, splice variant 4, sequence variant 4, domain 2, initiator methionine 1, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N302-F1	66.24	0.23

Functional residue map

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

Post-translational modifications (5): 2, 7, 11, 344, 664

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6802952	Signaling by BRAF and RAF1 fusions
R-HSA-1643685	Disease
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-6802957	Oncogenic MAPK signaling

MSigDB gene sets: 216 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, BROWNE_HCMV_INFECTION_6HR_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, YANG_BREAST_CANCER_ESR1_BULK_UP, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, AAAYRNCTG_UNKNOWN, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, BROWNE_HCMV_INFECTION_14HR_DN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_VASCULOGENESIS, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_EPITHELIAL_CELL_PROLIFERATION, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION

GO Biological Process (6): angiogenesis (GO:0001525), vasculogenesis (GO:0001570), positive regulation of endothelial cell proliferation (GO:0001938), cell adhesion (GO:0007155), positive regulation of angiogenesis (GO:0045766), cell differentiation (GO:0030154)

GO Molecular Function (3): nucleic acid binding (GO:0003676), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), cytoplasm (GO:0005737), perinuclear region of cytoplasm (GO:0048471)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Oncogenic MAPK signaling	1
Disease	1
Diseases of signal transduction by growth factor receptors and second messengers	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
blood vessel morphogenesis	2
binding	2
anatomical structure formation involved in morphogenesis	1
cell differentiation	1
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
positive regulation of epithelial cell proliferation	1
cellular process	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
cellular developmental process	1
protein binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1032 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGGF1	TNFSF12	O43508	778
AGGF1	A0A0A6YY99	A0A0A6YY99	682
AGGF1	TNFRSF12A	Q9NP84	666
AGGF1	ZRANB2	O95218	520
AGGF1	TRAF5	O00463	492
AGGF1	SMARCE1	Q969G3	453
AGGF1	SHKBP1	Q8TBC3	428
AGGF1	IGF2R	P11717	427
AGGF1	KLHDC1	Q8N7A1	427
AGGF1	KCNQ1	P51787	425
AGGF1	ROCK1	Q13464	424
AGGF1	GAS2L1	Q99501	417
AGGF1	TDG	Q13569	415
AGGF1	CCDC187	A0A096LP49	398
AGGF1	MKRN1	Q9UHC7	396

IntAct

87 interactions, top by confidence:

A	B	Type	Score
YEATS4	ZNHIT1	psi-mi:“MI:0914”(association)	0.790
AGGF1	MAB21L3	psi-mi:“MI:0915”(physical association)	0.740
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
IKBIP	SNAPIN	psi-mi:“MI:0914”(association)	0.670
FAM9C	NDC80	psi-mi:“MI:0914”(association)	0.670
AGGF1	AGGF1	psi-mi:“MI:0915”(physical association)	0.650
YAF2	E2F6	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
DHX15	AGGF1	psi-mi:“MI:0915”(physical association)	0.560
AGGF1	MCRS1	psi-mi:“MI:0915”(physical association)	0.560
AGGF1	FBXO28	psi-mi:“MI:0915”(physical association)	0.560
SCGN	SNAP23	psi-mi:“MI:0914”(association)	0.550
BLOC1S6	AGGF1	psi-mi:“MI:0915”(physical association)	0.550
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
EML3	YWHAZ	psi-mi:“MI:0914”(association)	0.530
Dynll1		psi-mi:“MI:0915”(physical association)	0.400
SF3A2	AGGF1	psi-mi:“MI:0915”(physical association)	0.400
AGGF1	iglC2	psi-mi:“MI:0915”(physical association)	0.370
IDH1	AGGF1	psi-mi:“MI:0915”(physical association)	0.370
AGGF1		psi-mi:“MI:0915”(physical association)	0.370
CCDC85B	AGGF1	psi-mi:“MI:0915”(physical association)	0.370
AGGF1	SNRPC	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (86): AGGF1 (Two-hybrid), MAB21L3 (Two-hybrid), AGGF1 (Affinity Capture-RNA), AGGF1 (Affinity Capture-RNA), AGGF1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), AGGF1 (Two-hybrid), AGGF1 (Two-hybrid), AGGF1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A5WW08, F4HRV8, O17482, O60934, O88974, O94988, P12757, P14629, P49021, P79457, Q08AW4, Q08D35, Q12789, Q28C33, Q2TB10, Q3B7T1, Q3UD82, Q3UWM4, Q498F0, Q5F363, Q5F3F2, Q5FWP4, Q5HYC2, Q5JSH3, Q5R431, Q5R7T9, Q5R9R1, Q5RGA4, Q5VVJ2, Q60665, Q63505, Q69Z66, Q6GQV7, Q6INA9, Q6NVE8, Q6P256, Q6ZMT4, Q8C5W4

Diamond homologs: A0JMV4, A4IGK4, A4L691, A5DSB5, B2GV05, P15771, P52756, P70501, P98175, Q0IIX9, Q17784, Q1RMU5, Q5ZII9, Q66J74, Q68FU8, Q6C233, Q6DDU9, Q7TN31, Q7TQC7, Q8CH02, Q8CH09, Q8IWZ8, Q8IX01, Q8N302, Q91YE7, Q94C11, Q96BK5, Q99KG3, Q9CZX5, Q9NW75, Q9UTK6, P78332, A4R0T9, A5DRH5, A5E4P1, A6R371, A6RIE1, A6ZUT6, A7EFS3, A7TG30

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GATA1	“up-regulates quantity by expression”	AGGF1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	6	11.1×	5e-03
EML4 and NUDC in mitotic spindle formation	6	8.8×	9e-03
Resolution of Sister Chromatid Cohesion	6	8.2×	9e-03
RHO GTPases Activate Formins	6	7.4×	9e-03
mRNA Splicing - Major Pathway	7	6.1×	9e-03
Metabolism of RNA	8	5.3×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	83
Likely benign	9
Benign	4

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2424719	NC_000005.9:g.(?76115008)(78281071_?)del	Pathogenic
3391887	GRCh37/hg19 5q13.3-14.1(chr5:73744566-79011619)x1	Pathogenic
59627	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1	Pathogenic
1713128	NM_018046.5(AGGF1):c.112_132dup (p.Arg44_Glu45insSerCysLysArgGlnValArg)	Likely pathogenic

SpliceAI

1938 predictions. Top by Δscore:

Variant	Effect	Δscore
5:77030974:CAG:C	donor_loss	1.0000
5:77030975:AG:A	donor_loss	1.0000
5:77030977:G:A	donor_loss	1.0000
5:77034401:GCCTT:G	acceptor_gain	1.0000
5:77034416:A:AG	acceptor_gain	1.0000
5:77034416:AGGT:A	acceptor_gain	1.0000
5:77034417:G:GG	acceptor_gain	1.0000
5:77034417:G:GT	acceptor_loss	1.0000
5:77034417:GGT:G	acceptor_gain	1.0000
5:77034417:GGTG:G	acceptor_gain	1.0000
5:77034479:TAG:T	donor_gain	1.0000
5:77034480:AGA:A	donor_gain	1.0000
5:77034517:TCAGG:T	donor_loss	1.0000
5:77034519:AGGTA:A	donor_loss	1.0000
5:77034520:GGTA:G	donor_loss	1.0000
5:77034521:GT:G	donor_loss	1.0000
5:77035533:T:TA	acceptor_gain	1.0000
5:77035539:A:AG	acceptor_gain	1.0000
5:77035539:A:C	acceptor_loss	1.0000
5:77035540:G:GT	acceptor_gain	1.0000
5:77035540:GA:G	acceptor_gain	1.0000
5:77035540:GAT:G	acceptor_gain	1.0000
5:77035540:GATT:G	acceptor_gain	1.0000
5:77035540:GATTA:G	acceptor_gain	1.0000
5:77035739:CACAG:C	donor_loss	1.0000
5:77035740:ACAG:A	donor_loss	1.0000
5:77035741:CAG:C	donor_loss	1.0000
5:77035742:AGGTA:A	donor_loss	1.0000
5:77035743:GGT:G	donor_loss	1.0000
5:77035744:G:C	donor_loss	1.0000

AlphaMissense

4733 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:77048269:G:A	G437E	1.000
5:77054073:T:C	C526R	1.000
5:77054074:G:A	C526Y	1.000
5:77036683:T:C	L215P	0.999
5:77039541:T:C	L231P	0.999
5:77039546:T:G	Y233D	0.999
5:77039570:T:G	Y241D	0.999
5:77039597:T:G	Y250D	0.999
5:77048191:G:C	R411T	0.999
5:77048192:A:C	R411S	0.999
5:77048192:A:T	R411S	0.999
5:77048200:T:A	V414D	0.999
5:77048268:G:A	G437R	0.999
5:77048268:G:C	G437R	0.999
5:77052712:G:C	A458P	0.999
5:77052745:T:G	Y469D	0.999
5:77052752:T:C	L471P	0.999
5:77053993:T:A	L499H	0.999
5:77054011:T:A	V505D	0.999
5:77054046:C:G	H517D	0.999
5:77054048:T:A	H517Q	0.999
5:77054048:T:G	H517Q	0.999
5:77054064:T:C	C523R	0.999
5:77054065:G:A	C523Y	0.999
5:77054066:T:G	C523W	0.999
5:77054073:T:A	C526S	0.999
5:77054074:G:C	C526S	0.999
5:77054074:G:T	C526F	0.999
5:77054075:T:G	C526W	0.999
5:77061752:T:A	W632R	0.999

dbSNP variants (sampled 300 via entrez): RS1000023431 (5:77031093 G>A), RS1000065307 (5:77063240 G>A,T), RS1000244283 (5:77045028 G>C), RS1000278496 (5:77056708 A>C), RS1000422398 (5:77036860 CCCAAGTAG>C), RS1000462108 (5:77063259 A>G), RS1000573437 (5:77058272 A>G), RS1000625138 (5:77042020 G>A,C), RS1000642262 (5:77057948 C>G), RS1000750430 (5:77035383 C>T), RS1000832856 (5:77063587 C>A), RS1000921274 (5:77051509 C>T), RS1000934848 (5:77062503 GA>G,GAA), RS1000974527 (5:77043914 G>A), RS1000975140 (5:77045753 A>G)

Disease associations

OMIM: gene MIM:608464 | disease phenotypes: MIM:608233

GenCC curated gene-disease

Mondo (2): non-syndromic syndactyly (MONDO:0019530), Hermansky-Pudlak syndrome 2 (MONDO:0011997)

Orphanet (4): Non-syndromic syndactyly (Orphanet:90025), Hermansky-Pudlak syndrome due to AP-3 deficiency (Orphanet:183678), Hermansky-Pudlak syndrome (Orphanet:79430), Hermansky-Pudlak syndrome due to AP3B1 deficiency (Orphanet:664500)

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000098	Tall stature
HP:0000140	Abnormality of the menstrual cycle
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000790	Hematuria
HP:0000929	Abnormal skull morphology
HP:0000969	Edema
HP:0001028	Hemangioma
HP:0001249	Intellectual disability
HP:0001541	Ascites
HP:0001631	Atrial septal defect
HP:0001635	Congestive heart failure
HP:0001643	Patent ductus arteriosus
HP:0001702	Abnormal tricuspid valve morphology
HP:0001789	Hydrops fetalis
HP:0001935	Microcytic anemia
HP:0002093	Respiratory insufficiency
HP:0002204	Pulmonary embolism
HP:0002239	Gastrointestinal hemorrhage
HP:0002240	Hepatomegaly
HP:0003010	Prolonged bleeding time
HP:0004414	Abnormality of the pulmonary artery
HP:0004936	Venous thrombosis
HP:0005293	Venous insufficiency
HP:0011029	Internal hemorrhage
HP:0011842	Abnormal skeletal morphology
HP:0100559	Lower limb asymmetry
HP:0100560	Upper limb asymmetry
HP:0100658	Cellulitis
HP:0100724	Hypercoagulability

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537709	Hermansky Pudlak syndrome 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
ochratoxin A	decreases expression	1
hydroquinone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Azacitidine	increases expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silver	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	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_D9XC	Ubigene HeLa AGGF1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04564430	PHASE4	UNKNOWN	Clonidine for Tourniquet-related Pain in Children
NCT03107546	Not specified	COMPLETED	Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute
NCT06239064	Not specified	ACTIVE_NOT_RECRUITING	Early Genetic Identification of Obesity
NCT07596862	Not specified	COMPLETED	Remote Assesment of Functional Sequelae in Patients Operated for Congenital Syndactyly