GIPC1

Summary

GIPC1 (GIPC PDZ domain containing family member 1, HGNC:1226) is a protein-coding gene on chromosome 19p13.12, encoding PDZ domain-containing protein GIPC1 (O14908). May be involved in G protein-linked signaling.

GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).

Source: NCBI Gene 10755 — RefSeq curated summary.

At a glance

• Gene–disease (curated): oculopharyngodistal myopathy 2 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 77 total — 2 pathogenic
• Phenotypes (HPO): 48
• MANE Select transcript: NM_005716

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1226
Approved symbol	GIPC1
Name	GIPC PDZ domain containing family member 1
Location	19p13.12
Locus type	gene with protein product
Status	Approved
Aliases	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP
Ensembl gene	ENSG00000123159
Ensembl biotype	protein_coding
OMIM	605072
Entrez	10755

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 23 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000345425, ENST00000393028, ENST00000393033, ENST00000585606, ENST00000586027, ENST00000587210, ENST00000587811, ENST00000587934, ENST00000587969, ENST00000589497, ENST00000589631, ENST00000591245, ENST00000591349, ENST00000885918, ENST00000885919, ENST00000885920, ENST00000885921, ENST00000885922, ENST00000931330, ENST00000931331, ENST00000931332, ENST00000952382, ENST00000952383, ENST00000952384, ENST00000952385, ENST00000952386

RefSeq mRNA: 5 — MANE Select: NM_005716 NM_005716, NM_202468, NM_202469, NM_202470, NM_202494

CCDS: CCDS12310, CCDS12311

Canonical transcript exons

ENST00000393033 — 9 exons

Exon	Start	End
ENSE00000836622	14480305	14480485
ENSE00001514041	14491656	14491743
ENSE00001514042	14492857	14492912
ENSE00002219006	14482689	14483006
ENSE00002964196	14477762	14478567
ENSE00003641740	14480593	14480778
ENSE00003687648	14478684	14478765
ENSE00003785561	14479412	14479524
ENSE00003844007	14496037	14496127

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5361 / max 242.0427, expressed in 1776 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179646	22.3020	1763
179647	3.1185	1578
179645	0.1047	42
179644	0.0109	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.30	gold quality
mucosa of transverse colon	UBERON:0004991	99.10	gold quality
esophagus mucosa	UBERON:0002469	98.83	gold quality
skin of leg	UBERON:0001511	97.92	gold quality
skin of abdomen	UBERON:0001416	97.87	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.73	gold quality
cervix squamous epithelium	UBERON:0006922	97.68	gold quality
transverse colon	UBERON:0001157	97.57	gold quality
esophagus	UBERON:0001043	97.55	gold quality
endometrium epithelium	UBERON:0004811	97.48	gold quality
metanephros cortex	UBERON:0010533	97.41	gold quality
spinal cord	UBERON:0002240	97.22	gold quality
pharyngeal mucosa	UBERON:0000355	97.17	gold quality
apex of heart	UBERON:0002098	96.89	gold quality
putamen	UBERON:0001874	96.80	gold quality
minor salivary gland	UBERON:0001830	96.64	gold quality
mouth mucosa	UBERON:0003729	96.63	gold quality
right frontal lobe	UBERON:0002810	96.62	gold quality
nucleus accumbens	UBERON:0001882	96.51	gold quality
gingiva	UBERON:0001828	96.48	gold quality
gingival epithelium	UBERON:0001949	96.46	gold quality
body of stomach	UBERON:0001161	96.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.41	gold quality
upper lobe of left lung	UBERON:0008952	96.33	gold quality
amygdala	UBERON:0001876	96.32	gold quality
squamous epithelium	UBERON:0006914	96.30	gold quality
buccal mucosa cell	CL:0002336	96.29	gold quality
lower esophagus	UBERON:0013473	96.19	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.17	gold quality
cingulate cortex	UBERON:0003027	96.11	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	26.27
E-ANND-3	yes	13.88
E-GEOD-99795	no	61.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting GIPC1, 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-4533	100.00	69.48	2758
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-1470	98.11	63.53	399
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-7113-5P	97.88	67.33	1735

Literature-anchored findings (GeneRIF, showing 35)

• The PDZ domain of TIP-2/GIPC interacts with the C-terminus of the integrin alpha5 and alpha6 subunits. (PMID:11852236)
• expression of human GIPC1 mRNA in normal tissues, cancer cell lines, and primary tumors (PMID:11956658)
• GIPC can regulate beta1-adrenergic receptor-stimulated, Gi-mediated, ERK activation while having no effect on receptor internalization or Gs-mediated cAMP signaling (PMID:12724327)
• responsible for the recycling of the hormone that is internalized by the lutropin receptor and also for maintaining a relatively constant level of lutropin receptor at the cell surface during hormone internalization (PMID:14507927)
• GIPC recruits GAIP (RGS19) to attenuate dopamine D2 receptor signaling (PMID:15356268)
• results support the notion that human papillomavirus type 18 E6 protein renders cells less sensitive to the cytostatic effect of TGF-beta by lowering the intracellular amount of TIP-2/GIPC (PMID:15767424)
• These results suggest that caveolae could represent an intracellular site that contributes to differentiate IR and IGF-IR activity, and demonstrate the role of caveolin-1 in the eNOS activation by Insulin and IGF-I. (PMID:16225848)
• GIPC can bind to itself and that the PDZ domain is involved in GIPC-GIPC interaction (PMID:16962991)
• Targeting GIPC could be a promising new treatment option for pancreatic cancer. (PMID:18314626)
• GIPC1 protein is overexpressed in ovarian and breast cancer (PMID:18721484)
• GIPC1 is a novel breast cancer-associated immunogenic antigen that is overexpressed in breast cancer (PMID:18721486)
• Endoglin promotes transforming growth factor beta-mediated Smad 1/5/8 signaling and inhibits endothelial cell migration through its association with GIPC (PMID:18775991)
• the C-terminal PDZ-binding motif of Glut1 plays a key role in growth factor regulation of glucose uptake by both allowing GIPC to promote Glut1 trafficking to the cell surface and protecting intracellular Glut1 from lysosomal degradation. (PMID:19016655)
• Data show that downregulation of myosin VI expression results in a significant reduction in PSA and VEGF secretion in LNCaP cells, and the intracellular targeting seems to involve myosin VI-interacting proteins, GIPC and LMTK2 and Dab2. (PMID:19855435)
• Among several HBc-interacting partners selected, it interacted most strongly with the human protein GIPC1. (PMID:20091192)
• GIPC1-MyoGEF complex formation plays an important role in regulating MDA-MB-231 breast cancer cell polarization and invasion. (PMID:20634288)
• Findings show the importance of GIPC in breast tumor progression. (PMID:21047775)
• GIPC1 plays an essential role in oncogenic transformation, and its expression is necessary for the survival of human breast and colorectal cancer cells (PMID:21209904)
• aim was to evaluate associations with albuminuria of six GLUT1 single nucleotide polymorphisms(SNPs), particularly XbaI and the previously associated Enhancer-2 (Enh2) SNP (PMID:21247498)
• interactions between TRP1-GIPC and GIPC-APPL-AKT provide a potential link between melanogenesis and PI3 kinase signaling (PMID:21291857)
• Knockdown of ADRM1 in amplified ovarian cell-line OAW42 results in downregulation of growth factor GIPC1 and upregulation of tumor-suppressor RECK RNA and protein (PMID:21432940)
• The placental lectins reduced the binding of IGF-I to IGF-1 receptor in a dose-dependent manner. (PMID:22082268)
• a novel non-Smad function for endoglin and GIPC in regulating endothelial cell function during angiogenesis (PMID:22593212)
• Our results do not show a predictive or prognostic function of GIPC1/Synectin expression for the outcome of radiotherapy in prostate cancer. (PMID:23128896)
• GIPC binds LPA(1) and promotes its trafficking from APPL-containing signaling endosomes to EEA1 early endosomes and thus attenuates LPA-mediated Akt signaling from APPL endosomes. (PMID:23145131)
• GIPC status determines the loading of cellular cargo in the exosome in pancreatic cancer cells. (PMID:25469510)
• The composite biomarker, CAPG and GIPC1 in primary breast tumors, predicted disease outcomes and benefit from zoledronate and may facilitate patient selection for adjuvant bisphosphonate treatment. (PMID:26757732)
• Drd3 palmitoylation acts as a molecular switch for Drd3-biased signaling via a GIPC1-dependent route, which is likely to affect the mode of action of antipsychotic drugs. (PMID:26787837)
• Upregulated expression of GIPC1 is associated with glioma. (PMID:27481513)
• VEGF-A interacts with NRP-1 and GIPC1 to regulate alpha6/beta4-integrin, FAK, Src, PI3K/PDK1, LATS1 signaling to increase YAP1/Np63alpha accumulation. (PMID:29755126)
• Silencing of Neuropilins and GIPC1 in pancreatic ductal adenocarcinoma exerts multiple cellular and molecular antitumor effects. (PMID:31664117)
• Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. (PMID:32413282)
• GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a beta1-Integrin Pathway. (PMID:32447051)
• GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders. (PMID:35152460)
• Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report. (PMID:37550168)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gipc1	ENSDARG00000104483
mus_musculus	Gipc1	ENSMUSG00000019433
rattus_norvegicus	Gipc1	ENSRNOG00000003864
drosophila_melanogaster	kermit	FBGN0010504
caenorhabditis_elegans		WBGENE00009681
caenorhabditis_elegans		WBGENE00016440

Paralogs (2): GIPC2 (ENSG00000137960), GIPC3 (ENSG00000179855)

Protein

Protein identifiers

PDZ domain-containing protein GIPC1 — O14908 (reviewed: O14908)

Alternative names: GAIP C-terminus-interacting protein, RGS-GAIP-interacting protein, RGS19-interacting protein 1, Synectin, Tax interaction protein 2

All UniProt accessions (6): O14908, K7EIT0, K7EJ33, K7ELJ2, K7EM11, K7ESN1

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in G protein-linked signaling.

Subunit / interactions. Interacts with GLUT1 (C-terminus), ACTN1, KIF1B, MYO6, PLEKHG5, SDC4/syndecan-4 and SEMA4C/semaphorin-4C. Interacts with RGS19 C-terminus. Interacts with HTLV-I Tax through the PDZ domain.

Subcellular location. Cytoplasm. Membrane.

Tissue specificity. Widely expressed. Expressed in skeletal muscle (at protein level).

Disease relevance. Oculopharyngodistal myopathy 2 (OPDM2) [MIM:618940] A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry. GGC repeat expansions in the 5’-UTR ranging from 73 to 164 were reported in patients, compared with a normal range from 12 to 32 in unaffected individuals. Patient skeletal muscle showed similar protein levels to those of unaffected individuals.

Similarity. Belongs to the GIPC family.

Isoforms (2)

UniProt ID	Names	Canonical?
O14908-1	1	yes
O14908-2	2

RefSeq proteins (5): NP_005707, NP_974197, NP_974198, NP_974199, NP_974223 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR017379	GIPC1/2/3	Family
IPR036034	PDZ_sf	Homologous_superfamily
IPR055349	GH2_GIPC	Domain
IPR056814	GIPC1-3_GH1	Domain

Pfam: PF00595, PF25082, PF25083

UniProt features (14 total): modified residue 6, compositionally biased region 3, region of interest 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14908-F1	81.92	0.60

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 (6): 232, 242, 247, 68, 222, 225

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-190370	FGFR1b ligand binding and activation
R-HSA-190373	FGFR1c ligand binding and activation
R-HSA-9839389	TGFBR3 regulates TGF-beta signaling
R-HSA-9839397	TGFBR3 regulates FGF2 signaling

MSigDB gene sets: 325 (showing top): GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_GLUTAMATE_SECRETION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_RESPONSE_TO_PEPTIDE, REACTOME_SIGNALING_BY_FGFR, REACTOME_FGFR1_LIGAND_BINDING_AND_ACTIVATION, GOBP_PROTEIN_TARGETING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_CELL_CELL_SIGNALING, GOBP_ORGANIC_ACID_TRANSPORT

GO Biological Process (13): protein targeting (GO:0006605), G protein-coupled receptor signaling pathway (GO:0007186), chemical synaptic transmission (GO:0007268), glutamate secretion (GO:0014047), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), regulation of protein stability (GO:0031647), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), positive regulation of cytokinesis (GO:0032467), endothelial cell migration (GO:0043542), positive regulation of melanin biosynthetic process (GO:0048023), regulation of synaptic plasticity (GO:0048167), cellular response to interleukin-7 (GO:0098761), presynaptic modulation of chemical synaptic transmission (GO:0099171)

GO Molecular Function (6): actin binding (GO:0003779), signaling receptor binding (GO:0005102), myosin binding (GO:0017022), identical protein binding (GO:0042802), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (12): cytoplasm (GO:0005737), cytosol (GO:0005829), cell cortex (GO:0005938), synaptic vesicle (GO:0008021), vesicle membrane (GO:0012506), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), dendritic spine (GO:0043197), dendritic shaft (GO:0043198), extracellular exosome (GO:0070062), Schaffer collateral - CA1 synapse (GO:0098685), glutamatergic synapse (GO:0098978)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
FGFR1 ligand binding and activation	2
Signaling by TGFBR3	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
regulation of biological quality	2
modulation of chemical synaptic transmission	2
presynapse	2
cytoskeletal protein binding	2
protein binding	2
dendrite	2
synapse	2
establishment of protein localization	1
G protein-coupled receptor activity	1
signal transduction	1
anterograde trans-synaptic signaling	1
dicarboxylic acid transport	1
acidic amino acid transport	1
secretion by cell	1
nitrogen compound transport	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
positive regulation of cellular response to transforming growth factor beta stimulus	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of proteasomal protein catabolic process	1
negative regulation of ubiquitin-dependent protein catabolic process	1
cytokinesis	1
regulation of cytokinesis	1
positive regulation of cell division	1
positive regulation of cell cycle process	1
cell migration	1
melanin biosynthetic process	1
regulation of melanin biosynthetic process	1
positive regulation of secondary metabolite biosynthetic process	1
cellular response to cytokine stimulus	1
response to interleukin-7	1
cell adhesion molecule binding	1
binding	1
intracellular anatomical structure	1
cell periphery	1
exocytic vesicle	1

Protein interactions and networks

STRING

1102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GIPC1	RGS19	P49795	998
GIPC1	NRP1	O14786	990
GIPC1	MYO6	Q9UM54	967
GIPC1	SDC4	P31431	964
GIPC1	APPL1	Q9UKG1	961
GIPC1	TAX1BP3	O14907	932
GIPC1	LRP2	P98164	902
GIPC1	ENG	P17813	901
GIPC1	KDR	P35968	769
GIPC1	CD93	Q9NPY3	727
GIPC1	NTRK1	P04629	713
GIPC1	RAB5A	P20339	679
GIPC1	DLG4	P78352	673
GIPC1	SLC2A1	P11166	655
GIPC1	TJP1	Q07157	653

IntAct

110 interactions, top by confidence:

A	B	Type	Score
SH3BP4	GIPC1	psi-mi:“MI:0914”(association)	0.740
GIPC1	SH3BP4	psi-mi:“MI:0915”(physical association)	0.740
ARHGEF12	GIPC1	psi-mi:“MI:0914”(association)	0.720
ARHGEF12	GIPC1	psi-mi:“MI:0915”(physical association)	0.720
ARHGEF12	GIPC1	psi-mi:“MI:2364”(proximity)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MYO6	GIPC1	psi-mi:“MI:0915”(physical association)	0.690
MYO6	GIPC1	psi-mi:“MI:0914”(association)	0.690
E6	GIPC1	psi-mi:“MI:0915”(physical association)	0.690
GIPC1	E6	psi-mi:“MI:0915”(physical association)	0.690
GIPC1	N	psi-mi:“MI:0915”(physical association)	0.590
N	GIPC1	psi-mi:“MI:0915”(physical association)	0.590
GIPC1	PLEKHA2	psi-mi:“MI:0915”(physical association)	0.560
GIPC1	TYRP1	psi-mi:“MI:0915”(physical association)	0.510
TYRP1	GIPC1	psi-mi:“MI:0915”(physical association)	0.510
TGFBR3	GIPC1	psi-mi:“MI:0915”(physical association)	0.510
CARD10	GIPC1	psi-mi:“MI:0915”(physical association)	0.480
CARD10	GIPC1	psi-mi:“MI:0914”(association)	0.480
GIPC2	GIPC1	psi-mi:“MI:0914”(association)	0.480
GIPC1	APPL2	psi-mi:“MI:0914”(association)	0.480
E6	GIPC1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (188): GIPC1 (Two-hybrid), GIPC1 (Co-fractionation), GIPC1 (Co-fractionation), OGT (Co-fractionation), TSTA3 (Co-fractionation), GIPC1 (Affinity Capture-MS), GIPC1 (Reconstituted Complex), GIPC1 (Two-hybrid), GIPC1 (Proximity Label-MS), GIPC1 (Affinity Capture-RNA), GIPC1 (Affinity Capture-MS), MYO6 (Affinity Capture-MS), SH3BP4 (Affinity Capture-MS), GEMIN4 (Affinity Capture-MS), NUP93 (Affinity Capture-MS)

ESM2 similar proteins: A1L1L6, A2A825, A6QL63, C9J798, O14908, O43374, O94844, O95278, O95294, Q0P5N6, Q15126, Q1LVW0, Q2HJF8, Q2TBH1, Q3UMR5, Q3UNW5, Q4R4U1, Q5E9M9, Q5R5F8, Q5ZIW1, Q5ZM73, Q5ZM83, Q66JN8, Q6DFV5, Q6GQW0, Q6IE70, Q6NVC5, Q6NYU2, Q7TSA0, Q7Z6G3, Q8BG51, Q8BGF7, Q8BHT7, Q8CIW5, Q8IXI1, Q8IXI2, Q8JZN7, Q8VCX6, Q91XQ2, Q923S8

Diamond homologs: O14908, Q1JQD4, Q498D9, Q8R5M0, Q8TF64, Q8TF65, Q9Z0G0, Q9Z254, Q9Z2H7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	59
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	Pathogenic
972742	NM_005716.4:c.-211GGC[(73_?)]	Pathogenic

SpliceAI

1165 predictions. Top by Δscore:

Variant	Effect	Δscore
19:14478563:GGCCG:G	acceptor_gain	1.0000
19:14478564:GCCG:G	acceptor_gain	1.0000
19:14478565:CCG:C	acceptor_gain	1.0000
19:14478565:CCGC:C	acceptor_gain	1.0000
19:14478566:CG:C	acceptor_gain	1.0000
19:14478566:CGC:C	acceptor_gain	1.0000
19:14478567:GC:G	acceptor_loss	1.0000
19:14478568:C:CA	acceptor_loss	1.0000
19:14478568:C:CC	acceptor_gain	1.0000
19:14478571:T:TC	acceptor_gain	1.0000
19:14478584:C:CT	acceptor_gain	1.0000
19:14478678:ACTC:A	donor_loss	1.0000
19:14478680:TCA:T	donor_loss	1.0000
19:14478681:CACCC:C	donor_loss	1.0000
19:14478682:A:T	donor_loss	1.0000
19:14478682:AC:A	donor_gain	1.0000
19:14478683:C:G	donor_loss	1.0000
19:14478683:CC:C	donor_gain	1.0000
19:14478683:CCCAG:C	donor_gain	1.0000
19:14478766:C:CC	acceptor_gain	1.0000
19:14478774:C:CT	acceptor_gain	1.0000
19:14478774:C:T	acceptor_gain	1.0000
19:14478796:C:CT	acceptor_gain	1.0000
19:14478797:A:C	acceptor_gain	1.0000
19:14479405:CACT:C	donor_loss	1.0000
19:14479406:ACTC:A	donor_loss	1.0000
19:14479407:CTCA:C	donor_loss	1.0000
19:14479408:TCA:T	donor_loss	1.0000
19:14479409:CACCA:C	donor_loss	1.0000
19:14479410:A:AC	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000023088 (19:14489110 G>A), RS1000125562 (19:14493991 G>A), RS1000152196 (19:14494621 C>T), RS1000183841 (19:14494814 G>T), RS1000233985 (19:14489976 GTC>G), RS1000439670 (19:14489322 C>A,G,T), RS1000463965 (19:14484059 G>A), RS1000727910 (19:14495147 C>T), RS1000969979 (19:14480204 G>A,T), RS1001090884 (19:14484840 A>G), RS1001195258 (19:14488558 C>T), RS1001206456 (19:14483282 C>T), RS1001671204 (19:14479675 G>A,C), RS1001835936 (19:14488352 G>A), RS1001850471 (19:14495436 C>T)

Disease associations

OMIM: gene MIM:605072 | disease phenotypes: MIM:618940

GenCC curated gene-disease

Disease	Classification	Inheritance
oculopharyngodistal myopathy 2	Strong	Autosomal dominant
oculopharyngodistal myopathy	Supportive	Autosomal dominant

Mondo (2): oculopharyngodistal myopathy 2 (MONDO:0030134), oculopharyngodistal myopathy (MONDO:0025193)

Orphanet (0):

HPO phenotypes

48 total (30 of 48 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000183	Tongue muscle weakness
HP:0000218	High palate
HP:0000301	Abnormality of facial musculature
HP:0000408	Progressive sensorineural hearing impairment
HP:0000508	Ptosis
HP:0000544	External ophthalmoplegia
HP:0000590	Progressive external ophthalmoplegia
HP:0000597	Ophthalmoparesis
HP:0001283	Bulbar palsy
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001604	Vocal cord paresis
HP:0001824	Weight loss
HP:0002058	Myopathic facies
HP:0002091	Restrictive ventilatory defect
HP:0002100	Recurrent aspiration pneumonia
HP:0002460	Distal muscle weakness
HP:0002505	Loss of ambulation
HP:0002705	High, narrow palate
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003458	EMG: myopathic abnormalities
HP:0003557	Increased variability in muscle fiber diameter
HP:0003805	Rimmed vacuoles
HP:0007149	Distal upper limb amyotrophy
HP:0007838	Progressive ptosis
HP:0008376	Nasal dysarthria
HP:0008756	Bowing of the vocal cords
HP:0008944	Distal lower limb amyotrophy

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009598_17	Kidney stones	2.000000e-09
GCST012490_30	Femur bone mineral density x serum urate levels interaction	2.000000e-12
GCST012490_348	Femur bone mineral density x serum urate levels interaction	2.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563508	Oculopharyngodistal Myopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases phosphorylation, affects cotreatment, increases expression, affects binding, increases reaction	3
Valproic Acid	affects expression, decreases methylation, increases expression	3
Particulate Matter	decreases expression, increases abundance, increases expression, affects cotreatment	3
sodium arsenite	increases expression	2
perfluorooctane sulfonic acid	increases expression, decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
FR900359	decreases phosphorylation	1
pirinixic acid	decreases expression, increases activity, affects binding	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
tetrabromobisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
1-(4-(6-bromobenzo(1,3)dioxol-5-yl)-3a,4,5,9b-tetrahydro-3H-cyclopenta(c)quinolin-8-yl)ethanone	decreases phosphorylation	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	decreases response to substance	1
Gemcitabine	affects response to substance	1
Arbutin	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Bucladesine	affects cotreatment, increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B2XP	Abcam HEK293T GIPC1 KO	Transformed cell line	Female
CVCL_C1T3	FDHSi001-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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