GAS7

Summary

GAS7 (growth arrest specific 7, HGNC:4169) is a protein-coding gene on chromosome 17p13.1, encoding Growth arrest-specific protein 7 (O60861). May play a role in promoting maturation and morphological differentiation of cerebellar neurons.

Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described.

Source: NCBI Gene 8522 — RefSeq curated summary.

At a glance

• GWAS associations: 36
• Clinical variants (ClinVar): 135 total — 1 pathogenic
• MANE Select transcript: NM_201433

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4169
Approved symbol	GAS7
Name	growth arrest specific 7
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0394, MGC1348
Ensembl gene	ENSG00000007237
Ensembl biotype	protein_coding
OMIM	603127
Entrez	8522

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 14 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000323816, ENST00000396115, ENST00000432992, ENST00000437099, ENST00000542249, ENST00000578456, ENST00000578599, ENST00000578655, ENST00000579140, ENST00000579158, ENST00000580043, ENST00000580811, ENST00000580865, ENST00000581112, ENST00000581871, ENST00000583882, ENST00000584146, ENST00000584389, ENST00000585266, ENST00000861253

RefSeq mRNA: 4 — MANE Select: NM_201433 NM_001130831, NM_003644, NM_201432, NM_201433

CCDS: CCDS11152, CCDS42263, CCDS45611, CCDS58518

Canonical transcript exons

ENST00000432992 — 14 exons

Exon	Start	End
ENSE00002272738	9910606	9917341
ENSE00002333848	9926641	9926769
ENSE00002381257	9969677	9969762
ENSE00003553405	9919626	9919705
ENSE00003616373	9925476	9925599
ENSE00003622274	9981804	9981884
ENSE00003645314	9918001	9918099
ENSE00003677478	10198208	10198606
ENSE00003703664	10019777	10019897
ENSE00003705583	9959202	9959255
ENSE00003707534	9940126	9940200
ENSE00003710325	9934166	9934244
ENSE00003787245	9946894	9946983
ENSE00003790797	9943121	9943236

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.2075 / max 777.1784, expressed in 1167 samples.

FANTOM5 promoters (32 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164553	5.6322	862
164556	3.7312	874
164530	3.0322	422
164525	2.7669	113
164528	2.1818	387
164518	1.7411	103
164557	1.5532	713
164529	1.1587	328
164540	1.1521	152
164545	0.8167	181

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	99.28	gold quality
parietal lobe	UBERON:0001872	99.14	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.14	gold quality
postcentral gyrus	UBERON:0002581	99.11	gold quality
trigeminal ganglion	UBERON:0001675	99.04	gold quality
lateral globus pallidus	UBERON:0002476	99.02	gold quality
sural nerve	UBERON:0015488	99.02	gold quality
olfactory bulb	UBERON:0002264	99.00	gold quality
inferior vagus X ganglion	UBERON:0005363	98.99	gold quality
dorsal root ganglion	UBERON:0000044	98.97	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.95	gold quality
superior frontal gyrus	UBERON:0002661	98.93	gold quality
globus pallidus	UBERON:0001875	98.90	gold quality
medial globus pallidus	UBERON:0002477	98.87	gold quality
orbitofrontal cortex	UBERON:0004167	98.86	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.86	gold quality
entorhinal cortex	UBERON:0002728	98.81	gold quality
occipital lobe	UBERON:0002021	98.76	gold quality
middle frontal gyrus	UBERON:0002702	98.72	gold quality
frontal pole	UBERON:0002795	98.68	gold quality
middle temporal gyrus	UBERON:0002771	98.58	gold quality
primary visual cortex	UBERON:0002436	98.54	gold quality
cerebellum	UBERON:0002037	98.50	gold quality
paraflocculus	UBERON:0005351	98.47	gold quality
cerebellar cortex	UBERON:0002129	98.45	gold quality
cerebellar hemisphere	UBERON:0002245	98.42	gold quality
cranial nerve II	UBERON:0000941	98.41	gold quality
nipple	UBERON:0002030	98.36	gold quality
CA1 field of hippocampus	UBERON:0003881	98.34	gold quality
inferior olivary complex	UBERON:0002127	98.30	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	461.93
E-ANND-3	yes	20.45
E-GEOD-135922	yes	20.45
E-MTAB-8410	yes	16.40

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
RUNX2	Activation

Upstream regulators (CollecTRI, top): CTCF, SOX9

miRNA regulators (miRDB)

318 targeting GAS7, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3667-3P	99.99	67.17	1636
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

Literature-anchored findings (GeneRIF, showing 23)

• This work reports the identification of two human Gas7 cDNA: hGas7-a with 2,427 nucleotides, which encodes 330 amino acids, and hGas7-b with 2,610 nucleotides, which encodes 412 amino acids according to predicted open-reading-frames. (PMID:15948147)
• hGas7b has a role in microtubular maintenance and is possibly implicated in Alzheimer disease (PMID:19801671)
• Knockdown of Gas7 by shRNA preferentially suppressed the Gas7b protein isoform in human preneuronal cells and to reduce apoptosis induced either by serum starvation or by the antineoplastic agents in human neuroblastoma SH-SY5Y cells. (PMID:20890993)
• regulates the differentiation of mesenchymal stem cells into osteoblasts by enhancing Runx2-dependent gene expression (PMID:21452305)
• The results suggest that regulation to maintain an appropriate concentration of hGas7b is required for healthy neurotransmission. (PMID:22496485)
• Intraocular pressure (IOP)was significantly associated with rs11656696, located in GAS7 at 17p13.1 and with rs7555523, located in TMCO1 at 1q24.1.These data suggest that we have identified two clinically relevant genes involved in IOP regulation. (PMID:22570627)
• These findings indicate that Gas7 is involved in motor neuron function associated with muscle strength maintenance. (PMID:22662195)
• We conclude that lower neuronal Gas7b levels may impact Alzheimer disease progression. (PMID:24151073)
• Low GAS7C increases cancer cell motility by promoting N-WASP/FAK/F-actin cytoskeleton dynamics. It also enhances beta-catenin stability via hnRNP U/beta-TrCP complex formation. (PMID:26506240)
• These results demonstrate GAS7 as a susceptibility gene for schizophrenia. (PMID:27189492)
• Polymorphism rs11656696 is not associated with primary open angle glaucoma (POAG) nor any of its endophenotypic traits such as intraocular pressure and cup/disk ratio and is thus not a risk factor for POAG in this Saudi cohort (PMID:29022762)
• Among 8 SNPs in 3 loci that showed at least nominal association (P < 5.00E-02) in the primary cohort, a representative SNP for each loci (rs2157719 for CDKN2B-AS1, rs33912345 for SIX6, and rs9913911 for GAS7) were selected (PMID:29261660)
• Collectively, our findings provide a novel basis for using miR-181a/GAS7-based therapeutic strategies to reverse gefitinib resistance in NSCLC. (PMID:29269300)
• A novel regulatory mechanism of p53 in early onset breast cancer progression through GAS7-CYFIP1-mediated signaling pathways. (PMID:29706651)
• Single nucleotide polymorphism in GAS7 gene is associated as a protective factor for primary open-Angle Glaucoma. (PMID:31269845)
• Reported here is the solution NMR structure of Gas7 SH3 domain which displays a typical SH3 beta-barrel fold comprising five beta-strands and one 310-helix. Structural and sequence comparison showed that Gas7-SH3 shares high similarity with Abl SH3 domain, which binds to a high-affinity proline-rich peptide P41 in a canonical SH3-ligand binding mode through two hydrophobic pockets and a specificity site in the RT-loop. (PMID:31296381)
• Growth arrest specific protein 7 inhibits tau fibrillogenesis. (PMID:32216967)
• GAS7 Deficiency Promotes Metastasis in MYCN-Driven Neuroblastoma. (PMID:33602789)
• Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population. (PMID:35400990)
• Circ_0078607 increases platinum drug sensitivity via miR-196b-5p/GAS7 axis in ovarian cancer. (PMID:36908025)
• Gas7 attenuates hepatocellular carcinoma progression and chemoresistance through the PI3K/Akt signaling pathway. (PMID:37769891)
• Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China. (PMID:38240248)
• Adipose stem cell-derived exosomes promote wound healing by regulating the let-7i-5p/GAS7 axis. (PMID:38429909)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gas7a	ENSDARG00000074443
danio_rerio		ENSDARG00000116210
mus_musculus	Gas7	ENSMUSG00000033066
rattus_norvegicus	Gas7	ENSRNOG00000049361

Paralogs (5): SGIP1 (ENSG00000118473), FCHO1 (ENSG00000130475), PSTPIP1 (ENSG00000140368), PSTPIP2 (ENSG00000152229), FCHO2 (ENSG00000157107)

Protein

Protein identifiers

Growth arrest-specific protein 7 — O60861 (reviewed: O60861)

All UniProt accessions (7): O60861, A0A0A0MS68, J3KS47, J3KTB1, J3QLH8, J3QR80, J3QS26

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in promoting maturation and morphological differentiation of cerebellar neurons.

Subcellular location. Cytoplasm.

Disease relevance. A chromosomal aberration involving GAS7 is found in acute myeloid leukemia. Translocation t(11;17)(q23;p13) with KMT2A/MLL1.

Isoforms (4)

UniProt ID	Names	Canonical?
O60861-3	3	yes
O60861-1	1
O60861-2	2, GAS7-CB
O60861-4	4

RefSeq proteins (4): NP_001124303, NP_003635, NP_958836, NP_958839* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001060	FCH_dom	Domain
IPR001202	WW_dom	Domain
IPR001452	SH3_domain	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR031160	F_BAR_dom	Domain
IPR036020	WW_dom_sf	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR037957	GAS7_F-BAR	Domain

Pfam: PF00397, PF00611, PF14604, PF16623

UniProt features (26 total): strand 9, splice variant 5, domain 3, compositionally biased region 2, modified residue 2, chain 1, sequence conflict 1, helix 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2LX7	SOLUTION NMR
2YSH	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60861-F1	84.99	0.65

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 (2): 117, 163

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 337 (showing top): TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, RRAGTTGT_UNKNOWN, ACTACCT_MIR196A_MIR196B, CHUNG_BLISTER_CYTOTOXICITY_DN, AAGCCAT_MIR135A_MIR135B, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, AP4_Q6, GOBP_NEUROGENESIS, GOBP_CLATHRIN_COAT_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, AP2_Q3, CAGCTG_AP4_Q5, SP1_Q2_01, CCANNAGRKGGC_UNKNOWN, WOO_LIVER_CANCER_RECURRENCE_UP

GO Biological Process (5): clathrin coat assembly (GO:0048268), neuron projection morphogenesis (GO:0048812), clathrin-dependent endocytosis (GO:0072583), nervous system development (GO:0007399), cell differentiation (GO:0030154)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), plasma membrane (GO:0005886), clathrin-coated pit (GO:0005905), clathrin-coated vesicle (GO:0030136)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
membrane	2
protein-containing complex assembly	1
neuron projection development	1
plasma membrane bounded cell projection morphogenesis	1
receptor-mediated endocytosis	1
system development	1
cellular developmental process	1
protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cell periphery	1
endomembrane system	1
coated vesicle	1

Protein interactions and networks

STRING

3099 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAS7	TMCO1	Q9UM00	748
GAS7	LACTB	P83096	670
GAS7	MLLT10	P55197	669
GAS7	MLLT1	Q03111	638
GAS7	MLLT3	P42568	627
GAS7	GMDS	O60547	603
GAS7	AFF1	P51825	594
GAS7	ANKRD26	Q9UPS8	591
GAS7	SIX6	O95475	586
GAS7	C3AR1	Q16581	576
GAS7	AFAP1	Q8N556	574
GAS7	ELL	P55199	560
GAS7	TUB	P50607	549
GAS7	PPM1L	Q5SGD2	545
GAS7	MYOC	Q99972	544

IntAct

40 interactions, top by confidence:

A	B	Type	Score
NTAQ1	GAS7	psi-mi:“MI:0915”(physical association)	0.670
GAS7	NTAQ1	psi-mi:“MI:0915”(physical association)	0.670
GAS7	SFPQ	psi-mi:“MI:0914”(association)	0.560
GAS7	SFPQ	psi-mi:“MI:0915”(physical association)	0.560
KHDRBS1	GAS7	psi-mi:“MI:0915”(physical association)	0.560
ADAM10	GAS7	psi-mi:“MI:0407”(direct interaction)	0.440
RPLP0	GAS7	psi-mi:“MI:0915”(physical association)	0.400
FMNL1	GAS7	psi-mi:“MI:0915”(physical association)	0.400
	GAS7	psi-mi:“MI:0915”(physical association)	0.400
GAPDH	GAS7	psi-mi:“MI:0915”(physical association)	0.400
GAS7	WASF2	psi-mi:“MI:0915”(physical association)	0.400
CYFIP1	GAS7	psi-mi:“MI:0915”(physical association)	0.400
SF1	GAS7	psi-mi:“MI:0915”(physical association)	0.400
GAS7	CYFIP2	psi-mi:“MI:0915”(physical association)	0.400
GAS7	HNRNPU	psi-mi:“MI:0915”(physical association)	0.400
GAS7	NCKAP1L	psi-mi:“MI:0915”(physical association)	0.400
GAS7	SF3A1	psi-mi:“MI:0915”(physical association)	0.400
GAS7	NCKAP1	psi-mi:“MI:0915”(physical association)	0.400
DIAPH1	GAS7	psi-mi:“MI:0915”(physical association)	0.400
WAS	GAS7	psi-mi:“MI:0915”(physical association)	0.400
GAS7	ABI1	psi-mi:“MI:0915”(physical association)	0.400
GAS7	GAS7	psi-mi:“MI:0915”(physical association)	0.370
CREB3L2	GAS7	psi-mi:“MI:0915”(physical association)	0.370
GAS7	BECN1	psi-mi:“MI:0915”(physical association)	0.370
NCKIPSD	USP9Y	psi-mi:“MI:0914”(association)	0.350
NCKIPSD	GAS7	psi-mi:“MI:0914”(association)	0.350
CBFB	GAS7	psi-mi:“MI:0915”(physical association)	0.000
	GAS7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (53): GAS7 (Two-hybrid), WDYHV1 (Two-hybrid), WAS (Affinity Capture-Western), GAS7 (Affinity Capture-Western), GAS7 (Affinity Capture-Western), HNRNPU (Affinity Capture-Western), GAS7 (Reconstituted Complex), GAS7 (Affinity Capture-MS), GAS7 (Two-hybrid), GAS7 (Two-hybrid), CDC37 (Two-hybrid), LSM4 (Two-hybrid), WDYHV1 (Two-hybrid), YIF1A (Two-hybrid), MCRS1 (Two-hybrid)

ESM2 similar proteins: A7MBI0, D3ZYR1, O13154, O43586, O55148, O60749, O60861, P09760, P16591, P70451, P97531, P97814, Q0JRZ9, Q15642, Q2HWF0, Q3KR97, Q3UQN2, Q4V920, Q5R411, Q5R807, Q5RCJ1, Q5T0N5, Q5U3Q6, Q60780, Q61644, Q6DCZ7, Q6GNV5, Q6GUF4, Q8CJ53, Q8I190, Q8I1A6, Q8I1C0, Q8I1I3, Q8K012, Q8T390, Q91VH2, Q99JB8, Q99M15, Q99N27, Q9BY11

Diamond homologs: A3LXQ8, A6H7G2, A6ZR73, A7MBI0, B3LRN4, B5VHP4, B8R1V5, C4Y1G1, C7GKW5, E7KBW4, E7KMS3, E7LTJ6, E7Q311, E7QE10, G5EC32, O13154, O35179, O35180, O42287, O60861, O74749, O75886, O76041, O77506, O88811, P08487, P10569, P10686, P14317, P18302, P19174, P20929, P34121, P34416, P40073, P49710, P70297, Q01406, Q07266, Q09822

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GAS7	“up-regulates quantity by expression”	RUNX2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 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
RHO GTPases Activate WASPs and WAVEs	8	105.7×	5e-13
FCGR3A-mediated phagocytosis	8	62.4×	2e-11
Regulation of actin dynamics for phagocytic cup formation	8	61.4×	2e-11
VEGFA-VEGFR2 Pathway	6	34.8×	5e-07
RAC2 GTPase cycle	5	26.4×	2e-05
RAC3 GTPase cycle	5	24.8×	2e-05
RAC1 GTPase cycle	8	20.4×	1e-07
Infectious disease	6	6.2×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	71
Likely benign	0
Benign	43

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
832118	NC_000017.11:g.(?9794928)(10547930_?)del	Pathogenic

SpliceAI

4777 predictions. Top by Δscore:

Variant	Effect	Δscore
17:10019772:CTCA:C	donor_loss	1.0000
17:10019774:CACC:C	donor_loss	1.0000
17:10019775:A:AC	donor_gain	1.0000
17:10019775:A:T	donor_loss	1.0000
17:10019775:AC:A	donor_gain	1.0000
17:10019776:C:CA	donor_gain	1.0000
17:10019776:CC:C	donor_gain	1.0000
17:10019776:CCA:C	donor_gain	1.0000
17:10019893:GGCTT:G	acceptor_gain	1.0000
17:10019895:CTT:C	acceptor_gain	1.0000
17:10019896:TT:T	acceptor_gain	1.0000
17:10019898:C:CC	acceptor_gain	1.0000
17:10019898:CTGTT:C	acceptor_loss	1.0000
17:10019901:T:TC	acceptor_gain	1.0000
17:10198202:CCTTA:C	donor_loss	1.0000
17:10198203:CTTA:C	donor_loss	1.0000
17:10198204:TTAC:T	donor_loss	1.0000
17:10198205:TA:T	donor_loss	1.0000
17:10198207:C:CT	donor_loss	1.0000
17:9917338:CTGT:C	acceptor_gain	1.0000
17:9917339:TGT:T	acceptor_gain	1.0000
17:9917340:GT:G	acceptor_gain	1.0000
17:9917341:TC:T	acceptor_loss	1.0000
17:9917342:C:CA	acceptor_loss	1.0000
17:9917342:C:CC	acceptor_gain	1.0000
17:9917994:AACTC:A	donor_loss	1.0000
17:9917995:ACTC:A	donor_loss	1.0000
17:9917996:CTCA:C	donor_loss	1.0000
17:9917998:CACGC:C	donor_loss	1.0000
17:9917999:A:AC	donor_gain	1.0000

AlphaMissense

3135 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:9919655:A:G	W397R	1.000
17:9919655:A:T	W397R	1.000
17:9919696:A:G	L383P	1.000
17:9925488:A:G	S376P	1.000
17:9925500:C:G	A372P	1.000
17:9925565:A:G	L350P	1.000
17:10019801:A:C	Y94D	0.999
17:10019834:A:G	W83R	0.999
17:10019834:A:T	W83R	0.999
17:10198236:A:G	F52S	0.999
17:9918029:C:G	R430P	0.999
17:9918032:A:G	L429P	0.999
17:9918050:A:G	L423P	0.999
17:9918073:C:A	R415S	0.999
17:9918073:C:G	R415S	0.999
17:9918074:C:A	R415M	0.999
17:9918084:C:T	E412K	0.999
17:9918095:A:G	L408P	0.999
17:9919676:A:C	Y390D	0.999
17:9925479:C:G	A379P	0.999
17:9925492:T:A	R374S	0.999
17:9925492:T:G	R374S	0.999
17:9925496:C:G	R373P	0.999
17:9925577:C:G	R346P	0.999
17:9925586:A:G	L343P	0.999
17:9925595:C:G	R340P	0.999
17:9925599:C:G	A339P	0.999
17:9926669:A:G	L329P	0.999
17:9926678:C:G	R326P	0.999
17:9926768:A:G	L296P	0.999

dbSNP variants (sampled 300 via entrez): RS1000021400 (17:9949457 C>G), RS1000023850 (17:10154066 T>A), RS1000034297 (17:9932473 G>A), RS1000039968 (17:10020161 T>C), RS1000060032 (17:10112248 A>G), RS1000064436 (17:9999625 T>C,G), RS1000065997 (17:10062065 G>T), RS1000070124 (17:10099436 C>A,T), RS1000076600 (17:10098024 A>G), RS1000080440 (17:10039750 G>A,C), RS1000084239 (17:10081397 A>C), RS1000086665 (17:10006758 A>C), RS1000090684 (17:9949587 A>G,T), RS1000095230 (17:9927186 T>A), RS1000127675 (17:10185332 T>C)

Disease associations

OMIM: gene MIM:603127 | disease phenotypes: MIM:605637

GenCC curated gene-disease

Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), myopathy, proximal, and ophthalmoplegia (MONDO:0011577)

Orphanet (2): Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (Orphanet:363677), Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (Orphanet:79091)

HPO phenotypes

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

GWAS associations

36 associations (top):

Study	Trait	p-value
GCST001506_1	Intraocular pressure	1.000000e-08
GCST001999_4	Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)	6.000000e-06
GCST002168_7	Intraocular pressure	2.000000e-06
GCST002580_8	Intraocular pressure	1.000000e-11
GCST003141_3	Proteinuria and chronic kidney disease	4.000000e-06
GCST004074_11	Intraocular pressure	1.000000e-12
GCST004074_12	Intraocular pressure	7.000000e-12
GCST005170_10	Intraocular pressure	1.000000e-28
GCST005170_11	Intraocular pressure	2.000000e-52
GCST005580_127	Intraocular pressure	1.000000e-78
GCST005580_128	Intraocular pressure	5.000000e-77
GCST006065_47	Glaucoma (primary open-angle)	9.000000e-34
GCST006066_7	Glaucoma (primary open-angle)	2.000000e-17
GCST006067_8	Glaucoma (primary open-angle)	2.000000e-17
GCST006394_103	Intraocular pressure	5.000000e-12
GCST006394_104	Intraocular pressure	2.000000e-57
GCST006395_34	Glaucoma	2.000000e-21
GCST006412_96	Intraocular pressure	9.000000e-15
GCST006412_97	Intraocular pressure	4.000000e-68
GCST006979_807	Heel bone mineral density	9.000000e-13
GCST007944_4	Medication use (antiglaucoma preparations and miotics)	1.000000e-16
GCST008595_210	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	6.000000e-09
GCST009413_7	Intraocular pressure	7.000000e-19
GCST009722_19	Glaucoma (multi-trait analysis)	1.000000e-58
GCST009725_2	Intraocular pressure	2.000000e-58
GCST009725_40	Intraocular pressure	1.000000e-11
GCST009726_2	Glaucoma	3.000000e-07
GCST009726_27	Glaucoma	7.000000e-18
GCST011438_14	Glaucoma (primary open-angle)	2.000000e-19
GCST011439_4	Glaucoma (primary open-angle)	5.000000e-21

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0009270	heel bone mineral density
EFO:0009944	Antiglaucoma preparations and miotics use measurement
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0600027	hemoglobin change measurement
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
C565311	Inclusion Body Myopathy 3, Autosomal Dominant (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	3
Tretinoin	increases expression, increases reaction, affects cotreatment	3
Vorinostat	affects cotreatment, decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	decreases expression, increases abundance, affects methylation, affects cotreatment	2
Cisplatin	increases response to substance, increases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
Aflatoxin B1	increases methylation	2
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
bisphenol A	affects methylation, affects cotreatment, decreases methylation	1
potassium perchlorate	increases expression	1
trichostatin A	increases expression	1
sodium bichromate	decreases expression	1
sulforaphane	increases expression	1
sodium arsenite	decreases expression, increases abundance, affects cotreatment	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
bisphenol S	decreases methylation	1
gardiquimod	decreases expression, decreases reaction	1
Bortezomib	decreases expression	1
Arsenic Trioxide	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery