MARCHF7

Summary

MARCHF7 (membrane associated ring-CH-type finger 7, HGNC:17393) is a protein-coding gene on chromosome 2q24.2, encoding E3 ubiquitin-protein ligase MARCHF7 (Q9H992). E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2.

MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).

Source: NCBI Gene 64844 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_001282805

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17393
Approved symbol	MARCHF7
Name	membrane associated ring-CH-type finger 7
Location	2q24.2
Locus type	gene with protein product
Status	Approved
Aliases	MARCH-VII, RNF177
Ensembl gene	ENSG00000136536
Ensembl biotype	protein_coding
OMIM	613334
Entrez	64844

Gene structure

Transcript identifiers

Ensembl transcripts: 71 — 68 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000259050, ENST00000409175, ENST00000409591, ENST00000420397, ENST00000421037, ENST00000461582, ENST00000473749, ENST00000478396, ENST00000539065, ENST00000856569, ENST00000856570, ENST00000856571, ENST00000856572, ENST00000856573, ENST00000856574, ENST00000856575, ENST00000856576, ENST00000856577, ENST00000856578, ENST00000856579, ENST00000856580, ENST00000856581, ENST00000856582, ENST00000856583, ENST00000856584, ENST00000914836, ENST00000914837, ENST00000914838, ENST00000914839, ENST00000914840, ENST00000914841, ENST00000914842, ENST00000914843, ENST00000914844, ENST00000914845, ENST00000914846, ENST00000914847, ENST00000914848, ENST00000914849, ENST00000914850, ENST00000914851, ENST00000914852, ENST00000914853, ENST00000914854, ENST00000914855, ENST00000914856, ENST00000914857, ENST00000914858, ENST00000914859, ENST00000914860, ENST00000914861, ENST00000914862, ENST00000914863, ENST00000914864, ENST00000914865, ENST00000914866, ENST00000914867, ENST00000966702, ENST00000966703, ENST00000966704, ENST00000966705, ENST00000966706, ENST00000966707, ENST00000966708, ENST00000966709, ENST00000966710, ENST00000966711, ENST00000966712, ENST00000966713, ENST00000966714, ENST00000966715

RefSeq mRNA: 26 — MANE Select: NM_001282805 NM_001282805, NM_001282806, NM_001282807, NM_001376234, NM_001376235, NM_001376236, NM_001376237, NM_001376238, NM_001376239, NM_001376240, NM_001376241, NM_001376242, NM_001376243, NM_001376244, NM_001376245, NM_001376246, NM_001376247, NM_001376248, NM_001376249, NM_001376250, NM_001376251, NM_001376252, NM_001376253, NM_001376254, NM_001376255, NM_022826

CCDS: CCDS2210, CCDS63038, CCDS63039

Canonical transcript exons

ENST00000409175 — 12 exons

Exon	Start	End
ENSE00000778764	159747805	159748903
ENSE00000778765	159752402	159752571
ENSE00000778766	159759226	159759335
ENSE00001220669	159767284	159771027
ENSE00001577272	159714557	159714598
ENSE00001578008	159712506	159712606
ENSE00001587066	159715681	159715766
ENSE00003461827	159764626	159764674
ENSE00003508992	159729009	159729175
ENSE00003567076	159762880	159762993
ENSE00003671166	159745770	159745937
ENSE00003674194	159743061	159743253

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.7871 / max 681.7002, expressed in 1820 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23272	53.0767	1818
23273	4.2722	1566
23271	0.7110	355
23276	0.3416	148
202456	0.2641	111
23277	0.0738	20
23275	0.0477	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.93	gold quality
amniotic fluid	UBERON:0000173	98.72	gold quality
ventricular zone	UBERON:0003053	97.54	gold quality
gingival epithelium	UBERON:0001949	97.52	gold quality
secondary oocyte	CL:0000655	97.33	gold quality
adrenal tissue	UBERON:0018303	97.24	gold quality
oral cavity	UBERON:0000167	97.05	gold quality
esophagus squamous epithelium	UBERON:0006920	96.96	gold quality
germinal epithelium of ovary	UBERON:0001304	96.73	gold quality
ganglionic eminence	UBERON:0004023	96.71	gold quality
gingiva	UBERON:0001828	96.70	gold quality
gall bladder	UBERON:0002110	96.68	gold quality
epithelium of nasopharynx	UBERON:0001951	96.60	gold quality
nasopharynx	UBERON:0001728	96.58	gold quality
lower esophagus mucosa	UBERON:0035834	96.57	gold quality
monocyte	CL:0000576	96.44	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.41	gold quality
esophagus mucosa	UBERON:0002469	96.29	gold quality
mononuclear cell	CL:0000842	96.28	gold quality
endometrium	UBERON:0001295	96.23	gold quality
visceral pleura	UBERON:0002401	96.20	gold quality
oocyte	CL:0000023	96.10	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.09	gold quality
leukocyte	CL:0000738	96.08	gold quality
parietal pleura	UBERON:0002400	96.07	gold quality
islet of Langerhans	UBERON:0000006	95.97	gold quality
blood vessel layer	UBERON:0004797	95.93	gold quality
pleura	UBERON:0000977	95.92	gold quality
squamous epithelium	UBERON:0006914	95.87	gold quality
cortical plate	UBERON:0005343	95.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.43
E-MTAB-9543	yes	6.03
E-MTAB-7303	no	159.27

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXP3, NANOG, PAX1

miRNA regulators (miRDB)

72 targeting MARCHF7, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
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-4789-5P	99.98	70.76	2721
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-4530	99.69	66.47	1509

Literature-anchored findings (GeneRIF, showing 9)

• Data suggest that clinical auto-graft versus host disease inversely correlates with axotrophin transcript expression. (PMID:17161353)
• MARCH7 can be stabilized by both USP9X and USP7, which deubiquitylate MARCH7 in the cytosol and nucleus, respectively (PMID:18410486)
• Axotrophin/MARCH-7 has an expression profile that is distinct from that of other MARCH family members. (PMID:19901269)
• USP7 and MARCH7 are involved in the progression of Epithelial ovarian cancer. (PMID:27302477)
• The findings uncover a novel mechanism for the regulation of Mdm2 and reveal MARCH7 as an important regulator of the Mdm2-p53 pathway. (PMID:29295817)
• Data show that miR-27b-3p inhibited ubiquitin E3 ligase membrane-associated RING-CH-type finger 7 (MARCH7) in endometrial cancer (EC) cells and MARCH7 promoted cell invasion through snail transcription factors (Snail)-mediated pathway. (PMID:31006800)
• Identification of novel interactions between host and non-structural protein 2C of foot-and-mouth disease virus. (PMID:33729124)
• Association of MARCH7 with tumor progression and T-cell infiltration in esophageal cancer. (PMID:36583798)
• Control of ATG14 solubility and autophagy by MARCHF7/MARCH7-mediated ubiquitination. (PMID:37915253)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	marchf7	ENSDARG00000057772
danio_rerio		ENSDARG00000096375
mus_musculus	Marchf7	ENSMUSG00000026977
rattus_norvegicus	Marchf7	ENSRNOG00000006241

Paralogs (1): MARCHF10 (ENSG00000173838)

Protein

Protein identifiers

E3 ubiquitin-protein ligase MARCHF7 — Q9H992 (reviewed: Q9H992)

Alternative names: Axotrophin, Membrane-associated RING finger protein 7, Membrane-associated RING-CH protein VII, RING finger protein 177, RING-type E3 ubiquitin transferase MARCHF7

All UniProt accessions (4): C9J159, Q9H992, F5H6W4, H7BZU7

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in T-cell proliferation by regulating LIF secretion. May play a role in lysosome homeostasis. Promotes ‘Lys-6’, ‘Lys-11’ and ‘Lys-63’-linked mixed polyubiquitination on ATG14 leading to the inhibition of autophagy by impairing the interaction between ATG14 and STX7. Participates in the dopamine-mediated negative regulation of the NLRP3 inflammasome by promoting its ubiquitination and subsequent degradation.

Subcellular location. Cytoplasm.

Domain organisation. The RING-CH-type zinc finger domain is required for E3 ligase activity.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H992-1	1	yes
Q9H992-2	2

RefSeq proteins (26): NP_001269734, NP_001269735, NP_001269736, NP_001363163, NP_001363164, NP_001363165, NP_001363166, NP_001363167, NP_001363168, NP_001363169, NP_001363170, NP_001363171, NP_001363172, NP_001363173, NP_001363174, NP_001363175, NP_001363176, NP_001363177, NP_001363178, NP_001363179, NP_001363180, NP_001363181, NP_001363182, NP_001363183, NP_001363184, NP_073737 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011016	Znf_RING-CH	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR052297	RING-CH-type_E3_ubiq-ligase	Family

Pfam: PF12906

UniProt features (43 total): compositionally biased region 14, binding site 8, region of interest 7, modified residue 6, sequence variant 3, sequence conflict 2, chain 1, zinc finger region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H992-F1	50.28	0.06

Functional residue map

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

Ligand- & substrate-binding residues (8): 552; 555; 570; 572; 580; 583; 604; 607

Post-translational modifications (6): 1, 317, 389, 686, 687, 691

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 299 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_TOLERANCE_INDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_REGULATION_OF_TOLERANCE_INDUCTION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER

GO Biological Process (14): regulation of tolerance induction (GO:0002643), protein monoubiquitination (GO:0006513), positive regulation of cell population proliferation (GO:0008284), negative regulation of T cell proliferation (GO:0042130), negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518), protein stabilization (GO:0050821), protein autoubiquitination (GO:0051865), negative regulation of proteasomal protein catabolic process (GO:1901799), negative regulation of cilium assembly (GO:1902018), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166), positive regulation of protein polyubiquitination (GO:1902916), negative regulation of protein autoubiquitination (GO:1905524), protein ubiquitination (GO:0016567), cilium assembly (GO:0060271)

GO Molecular Function (9): zinc ion binding (GO:0008270), ubiquitin conjugating enzyme binding (GO:0031624), ubiquitin binding (GO:0043130), ubiquitin protein ligase activity (GO:0061630), MDM2/MDM4 family protein binding (GO:0097371), protein binding (GO:0005515), transferase activity (GO:0016740), enzyme binding (GO:0019899), metal ion binding (GO:0046872)

GO Cellular Component (6): nucleus (GO:0005634), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), ciliary basal body (GO:0036064), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	2
protein binding	2
microtubule organizing center	2
cellular anatomical structure	2
tolerance induction	1
regulation of immune system process	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
T cell proliferation	1
regulation of T cell proliferation	1
negative regulation of lymphocyte proliferation	1
negative regulation of T cell activation	1
DNA damage response, signal transduction by p53 class mediator	1
regulation of DNA damage response, signal transduction by p53 class mediator	1
negative regulation of signal transduction by p53 class mediator	1
regulation of protein stability	1
proteasomal protein catabolic process	1
negative regulation of protein catabolic process	1
regulation of proteasomal protein catabolic process	1
cilium assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
negative regulation of organelle assembly	1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
protein polyubiquitination	1
positive regulation of protein ubiquitination	1
regulation of protein polyubiquitination	1
negative regulation of protein ubiquitination	1
protein autoubiquitination	1
regulation of protein autoubiquitination	1
protein modification by small protein conjugation	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1

Protein interactions and networks

STRING

1116 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MARCHF7	TRIM31	Q9BZY9	651
MARCHF7	FBXL2	Q9UKC9	648
MARCHF7	MARCHF11	A6NNE9	616
MARCHF7	ARIH2	O95376	612
MARCHF7	MARCHF2	Q9P0N8	544
MARCHF7	PELI2	Q9HAT8	492
MARCHF7	MARCHF3	Q86UD3	489
MARCHF7	BRCC3	P46736	487
MARCHF7	MARCHF4	Q9P2E8	474
MARCHF7	MARCHF9	Q86YJ5	459
MARCHF7	DRD1	P21728	445
MARCHF7	NLRP3	Q96P20	434
MARCHF7	USP7	Q93009	403
MARCHF7	NEK7	Q8TDX7	400
MARCHF7	MAGEC2	Q9UBF1	392

IntAct

93 interactions, top by confidence:

A	B	Type	Score
MAPRE1	MARCHF7	psi-mi:“MI:0915”(physical association)	0.670
HSF2BP	MARCHF7	psi-mi:“MI:0915”(physical association)	0.560
UBE2K	MARCHF7	psi-mi:“MI:0915”(physical association)	0.560
MARCHF7	MAPRE3	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	MARCHF7	psi-mi:“MI:0915”(physical association)	0.560
MARCHF7	CTNNA3	psi-mi:“MI:0915”(physical association)	0.560
TGFBR2	PIK3R2	psi-mi:“MI:0914”(association)	0.530
KLHL40	CBX4	psi-mi:“MI:0914”(association)	0.530
PRKAG3	PFDN6	psi-mi:“MI:0914”(association)	0.530
HUS1B	RAD1	psi-mi:“MI:0914”(association)	0.530
PHYHIP	TRIP6	psi-mi:“MI:0914”(association)	0.530
HCCS	NPAT	psi-mi:“MI:0914”(association)	0.530
KCNE3	RIOK3	psi-mi:“MI:0914”(association)	0.530
HIP2	MARCHF7	psi-mi:“MI:0915”(physical association)	0.370
MARCHF7	UBE2N	psi-mi:“MI:0915”(physical association)	0.370
RNF111	MARCHF7	psi-mi:“MI:0915”(physical association)	0.370
TRIM65	MARCHF7	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
MAPK6		psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
BBS7	PER1	psi-mi:“MI:0914”(association)	0.350
HCCS	MPZL1	psi-mi:“MI:0914”(association)	0.350
UBXN1	TNFAIP1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
TGFBR2	WWP2	psi-mi:“MI:0914”(association)	0.350
MAPRE1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
BBS7	TARS3	psi-mi:“MI:0914”(association)	0.350
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350

BioGRID (138): UBE2K (Reconstituted Complex), MARCH7 (Affinity Capture-MS), MARCH7 (Affinity Capture-MS), MARCH7 (Affinity Capture-MS), MARCH7 (Affinity Capture-MS), MARCH7 (Affinity Capture-MS), MARCH7 (Affinity Capture-MS), MARCH7 (Affinity Capture-MS), MARCH7 (Affinity Capture-Western), NLRP3 (Affinity Capture-Western), UBE2K (Two-hybrid), UBE2N (Two-hybrid), USP9X (Affinity Capture-Western), USP7 (Affinity Capture-Western), MARCH7 (Affinity Capture-Western)

ESM2 similar proteins: A1CBG9, A1DDX0, A2AH22, A2RA63, B0Y1D1, B3P4M4, B4KCG1, B8NKS1, E7FAG6, O42631, O42967, O94400, P10240, P14349, P28990, P32828, P34256, P34675, P84445, P87237, P87311, Q07G42, Q0CW83, Q0V9R0, Q2U685, Q48B61, Q4WVI6, Q4ZMD6, Q5R9W2, Q5XI50, Q641J8, Q66J97, Q6NRV8, Q87039, Q8BI21, Q8RK09, Q8RK12, Q90ZT7, Q9C0C7, Q9DBU5

Diamond homologs: A0JN69, A6NNE9, A6P320, F4JKK0, O60103, O60337, P40318, Q0IH10, Q0P496, Q0VD59, Q0X0A5, Q1LVZ2, Q28EX7, Q28IK8, Q32L65, Q3KNM2, Q3TZ87, Q3ZC24, Q5I0I2, Q5PQ35, Q5R9W1, Q5R9W2, Q5T0T0, Q5XH39, Q5XI50, Q5XIE5, Q5ZJ41, Q68FA7, Q6GM44, Q6NYK8, Q6NZQ8, Q6ZQ89, Q80TE3, Q86UD3, Q86YJ5, Q8BRX9, Q8CBH7, Q8TCQ1, Q99M02, Q9DBD2

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	MARCHF7	ubiquitination
MARCHF7	“down-regulates quantity by destabilization”	IQCB1	ubiquitination
MARCHF7	“down-regulates activity”	MAPT	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 108 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
Downstream TCR signaling	6	11.7×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein ubiquitination	11	4.7×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2050 predictions. Top by Δscore:

Variant	Effect	Δscore
2:159729007:A:AG	acceptor_gain	1.0000
2:159729008:G:GG	acceptor_gain	1.0000
2:159729008:GAAAA:G	acceptor_gain	1.0000
2:159729111:G:GT	donor_gain	1.0000
2:159729171:ATCAG:A	donor_loss	1.0000
2:159729172:TCAG:T	donor_loss	1.0000
2:159729173:CAG:C	donor_loss	1.0000
2:159729174:AG:A	donor_loss	1.0000
2:159729175:GG:G	donor_loss	1.0000
2:159729176:G:T	donor_loss	1.0000
2:159729177:T:G	donor_loss	1.0000
2:159745768:A:G	acceptor_gain	1.0000
2:159745938:G:GG	donor_gain	1.0000
2:159752400:A:AG	acceptor_gain	1.0000
2:159752401:G:GG	acceptor_gain	1.0000
2:159752401:GC:G	acceptor_gain	1.0000
2:159752569:CTGGT:C	donor_loss	1.0000
2:159752571:GGTAA:G	donor_loss	1.0000
2:159752572:GTAA:G	donor_loss	1.0000
2:159752573:T:A	donor_loss	1.0000
2:159759215:A:G	acceptor_gain	1.0000
2:159759336:G:GG	donor_gain	1.0000
2:159762860:T:TA	acceptor_gain	1.0000
2:159762864:T:TA	acceptor_gain	1.0000
2:159762872:T:TA	acceptor_gain	1.0000
2:159762994:G:GG	donor_gain	1.0000
2:159764624:A:AG	acceptor_gain	1.0000
2:159764625:G:GG	acceptor_gain	1.0000
2:159764675:G:GG	donor_gain	1.0000
2:159712661:GGTAA:G	donor_gain	0.9900

AlphaMissense

4547 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:159752442:T:A	C552S	1.000
2:159752442:T:C	C552R	1.000
2:159752443:G:A	C552Y	1.000
2:159752443:G:C	C552S	1.000
2:159752443:G:T	C552F	1.000
2:159752444:T:G	C552W	1.000
2:159752446:G:C	R553T	1.000
2:159752447:A:C	R553S	1.000
2:159752447:A:T	R553S	1.000
2:159752449:T:A	I554N	1.000
2:159752449:T:C	I554T	1.000
2:159752449:T:G	I554S	1.000
2:159752451:T:A	C555S	1.000
2:159752451:T:C	C555R	1.000
2:159752452:G:A	C555Y	1.000
2:159752452:G:C	C555S	1.000
2:159752452:G:T	C555F	1.000
2:159752453:T:G	C555W	1.000
2:159752496:T:A	C570S	1.000
2:159752496:T:C	C570R	1.000
2:159752497:G:A	C570Y	1.000
2:159752497:G:C	C570S	1.000
2:159752497:G:T	C570F	1.000
2:159752498:C:G	C570W	1.000
2:159752502:T:A	C572S	1.000
2:159752502:T:C	C572R	1.000
2:159752503:G:A	C572Y	1.000
2:159752503:G:C	C572S	1.000
2:159752503:G:T	C572F	1.000
2:159752504:C:G	C572W	1.000

dbSNP variants (sampled 300 via entrez): RS1000098893 (2:159731092 C>T), RS1000185884 (2:159734488 A>G), RS1000249244 (2:159765820 A>C), RS1000279255 (2:159725411 A>G), RS1000352494 (2:159769754 C>T), RS1000476570 (2:159729492 G>A), RS1000515786 (2:159735974 A>G), RS1000537074 (2:159752201 A>G), RS1000554638 (2:159714616 A>G), RS1000592294 (2:159736226 A>G), RS1000690586 (2:159746702 C>T), RS1000714129 (2:159725618 A>G), RS1000792689 (2:159764484 T>A,C), RS1000813343 (2:159730843 A>T), RS1000822467 (2:159771409 A>G)

Disease associations

OMIM: gene MIM:613334 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST003043_85	Inflammatory bowel disease	3.000000e-08
GCST003044_22	Crohn’s disease	1.000000e-06
GCST007277_3	Tourette syndrome	2.000000e-07
GCST008362_150	Birth weight	1.000000e-08
GCST012490_42	Femur bone mineral density x serum urate levels interaction	9.000000e-12
GCST012490_436	Femur bone mineral density x serum urate levels interaction	2.000000e-08
GCST012490_494	Femur bone mineral density x serum urate levels interaction	2.000000e-08
GCST90002390_379	Mean corpuscular hemoglobin	2.000000e-09
GCST90002400_330	Plateletcrit	5.000000e-50
GCST90002402_251	Platelet count	5.000000e-46
GCST90002407_70	White blood cell count	1.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight
EFO:0004531	urate measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0007985	platelet crit
EFO:0004309	platelet count

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
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	3
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
JP8 aviation fuel	affects expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Benzo(a)pyrene	decreases methylation	1
Carbamazepine	affects expression	1
Cocaine	increases expression	1
Coumestrol	decreases expression	1
Demecolcine	increases expression	1
Lead	affects splicing	1
Phenobarbital	affects expression	1
Plant Extracts	increases expression, affects cotreatment	1
Plant Oils	increases expression	1
Vincristine	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases expression	1
Antirheumatic Agents	affects expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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