SSX2IP

Summary

SSX2IP (SSX family member 2 interacting protein, HGNC:16509) is a protein-coding gene on chromosome 1p22.3, encoding Afadin- and alpha-actinin-binding protein (Q9Y2D8). Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs).

This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3.

Source: NCBI Gene 117178 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_001166293

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16509
Approved symbol	SSX2IP
Name	SSX family member 2 interacting protein
Location	1p22.3
Locus type	gene with protein product
Status	Approved
Aliases	hMsd1
Ensembl gene	ENSG00000117155
Ensembl biotype	protein_coding
OMIM	608690
Entrez	117178

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 25 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000342203, ENST00000422026, ENST00000437941, ENST00000459708, ENST00000460500, ENST00000476905, ENST00000481102, ENST00000490476, ENST00000603677, ENST00000605755, ENST00000869156, ENST00000869158, ENST00000869159, ENST00000869161, ENST00000869163, ENST00000869165, ENST00000869166, ENST00000869167, ENST00000869168, ENST00000869169, ENST00000917144, ENST00000917145, ENST00000917146, ENST00000917147, ENST00000917148, ENST00000917149, ENST00000942530, ENST00000942531, ENST00000942532, ENST00000942533

RefSeq mRNA: 5 — MANE Select: NM_001166293 NM_001166293, NM_001166294, NM_001166295, NM_001166417, NM_014021

CCDS: CCDS53337, CCDS699

Canonical transcript exons

ENST00000342203 — 14 exons

Exon	Start	End
ENSE00001453169	84690371	84690461
ENSE00003459694	84666122	84666232
ENSE00003518561	84651883	84651997
ENSE00003521757	84669681	84669893
ENSE00003561716	84662198	84662375
ENSE00003585572	84655832	84656005
ENSE00003589944	84658318	84658468
ENSE00003608420	84671177	84671308
ENSE00003617893	84670646	84670815
ENSE00003644976	84656348	84656484
ENSE00003654676	84662455	84662530
ENSE00003660269	84664417	84664552
ENSE00003666596	84650362	84650527
ENSE00003904245	84643706	84647607

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 97.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3449 / max 819.9124, expressed in 1555 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13002	6.0484	1424
13000	1.3830	550
12999	1.0602	366
13003	0.9639	499
12994	0.3015	82
12998	0.1946	90
13004	0.1859	67
12996	0.0981	39
12997	0.0644	28
13001	0.0450	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.54	gold quality
right testis	UBERON:0004534	97.49	gold quality
middle temporal gyrus	UBERON:0002771	96.89	gold quality
sperm	CL:0000019	96.58	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.27	gold quality
jejunal mucosa	UBERON:0000399	96.03	gold quality
testis	UBERON:0000473	95.90	gold quality
male germ cell	CL:0000015	95.66	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.38	gold quality
endothelial cell	CL:0000115	94.27	gold quality
duodenum	UBERON:0002114	94.20	gold quality
secondary oocyte	CL:0000655	94.07	gold quality
orbitofrontal cortex	UBERON:0004167	93.56	gold quality
primary visual cortex	UBERON:0002436	93.02	gold quality
superior frontal gyrus	UBERON:0002661	92.53	gold quality
ventricular zone	UBERON:0003053	92.52	gold quality
oocyte	CL:0000023	92.24	gold quality
cortical plate	UBERON:0005343	92.23	gold quality
postcentral gyrus	UBERON:0002581	92.20	gold quality
islet of Langerhans	UBERON:0000006	91.11	gold quality
parietal lobe	UBERON:0001872	91.02	gold quality
occipital lobe	UBERON:0002021	90.96	gold quality
corpus epididymis	UBERON:0004359	90.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.68	gold quality
ganglionic eminence	UBERON:0004023	90.44	gold quality
entorhinal cortex	UBERON:0002728	89.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.41	gold quality
prefrontal cortex	UBERON:0000451	89.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.53	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	28.10
E-HCAD-31	yes	24.99
E-MTAB-7316	yes	22.76
E-GEOD-81547	yes	20.46
E-GEOD-81608	yes	16.32
E-GEOD-83139	yes	11.56
E-ENAD-27	yes	9.40
E-ANND-3	yes	6.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

163 targeting SSX2IP, 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-4262	100.00	73.26	3931
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-551B-5P	99.96	71.28	3493

Literature-anchored findings (GeneRIF, showing 13)

• Nuclear protein SS2IP interacts with cancer-related protein SSX2 and the human homologue of a Ras-like GTPase interactor, RABIN3. (PMID:12007189)
• data shows that SSX2IP is affected in two ways that relate to the cell cycling of acute myeloid leukaemia cells (PMID:18028484)
• results showed that SSX2IP promotes the development and metastasis of hepatocellular carcinoma and contributes to the drug resistance of hepatoma cells (PMID:23452395)
• The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone. (PMID:24356449)
• SSX2IP-mediated microtubule anchoring is essential for proper centriole assembly and duplication. On SSX2IP knockdown, the centriolar satellites become stuck at the microtubule minus end near the centrosome. (PMID:25833712)
• In airway epithelial cells, measles virus spread requires the nectin-4/afadin complex and is based on cytoplasm transfer between columnar cells. (PMID:25926640)
• Knockdown of Wdr8 or hMsd1/SSX2IP displayed very similar mitotic defects, in which spindle microtubules became shortened and misoriented. (PMID:26545777)
• Studied afadin in complex with beta-catenin in glomeruli and in cultured mesangial cells. Found expression of afadin at mesangial intercellular junctions was greatly decreased in mesangial proliferative nephritis in rats & patients w/glomerulonephritis. (PMID:26568295)
• This study determined the crystallographic structure of human Afadin in complex with LGN. (PMID:26751642)
• High levels of SSX2IP expression significantly predicted DSS. (PMID:31837171)
• OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring. (PMID:33987909)
• Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells. (PMID:35406752)
• MiRNA-181b-5p Modulates Cell Proliferation, Cell Cycle, and Apoptosis by Targeting SSX2IP in Acute Lymphoblastic Leukemia (PMID:35658330)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ssx2ipa	ENSDARG00000039521
danio_rerio	ssx2ipb	ENSDARG00000061602
mus_musculus	Ssx2ip	ENSMUSG00000036825
rattus_norvegicus	Ssx2ip	ENSRNOG00000015425

Protein

Protein identifiers

Afadin- and alpha-actinin-binding protein — Q9Y2D8 (reviewed: Q9Y2D8)

Alternative names: Afadin DIL domain-interacting protein, SSX2-interacting protein

All UniProt accessions (4): Q9Y2D8, C9JIX7, S4R2Y6, S4R403

UniProt curated annotations — full annotation on UniProt →

Function. Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin. Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling. Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Involved in ciliogenesis. It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia.

Subunit / interactions. Interacts with afadin and alpha-actinin. Interacts with VAV2. Interacts with SSX2 and SSX3. Does not interact with SSX1 and SSX4. Interacts with PCM1. Interacts with WRAP73.

Subcellular location. Cell junction. Adherens junction. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite. Cilium basal body.

Tissue specificity. Widely expressed, with the highest expression in brain, intermediate expression in kidney, testis, spinal cord, liver, heart, lung, skeletal muscle, ovary, fetal liver and fetal brain, and little to no expression in pancreas and spleen. All specific brain regions showed intermediate to high expression, with highest expression in amygdala. Also expressed in fetal tissues, mainly in liver and brain.

Domain organisation. Both the N-terminal (up to position 79) and the C-terminal (from position 304) sequences are required for interaction with SSX2.

Miscellaneous. Acts as an acute myeloid leukemia-associated antigen and may be used as a potential immunotherapy target for leukemia.

Similarity. Belongs to the ADIP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y2D8-1	1	yes
Q9Y2D8-2	2
Q9Y2D8-3	3

RefSeq proteins (5): NP_001159765, NP_001159766, NP_001159767, NP_001159889, NP_054740 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021622	Afadin/alpha-actinin-bd	Family
IPR052300	Adhesion_Centrosome_assoc	Family

Pfam: PF11559

UniProt features (18 total): modified residue 6, splice variant 3, sequence conflict 3, coiled-coil region 3, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2D8-F1	69.87	0.37

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): 542, 290, 293, 312, 536, 540

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 288 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GCANCTGNY_MYOD_Q6, AREB6_03, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, AP2_Q3, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, ATGTTAA_MIR302C, GOLDRATH_ANTIGEN_RESPONSE

GO Biological Process (7): centrosome cycle (GO:0007098), cell adhesion (GO:0007155), regulation of Rac protein signal transduction (GO:0035020), intraciliary transport involved in cilium assembly (GO:0035735), cilium assembly (GO:0060271), regulation of cell motility (GO:2000145), cell projection organization (GO:0030030)

GO Molecular Function (2): protein domain specific binding (GO:0019904), protein binding (GO:0005515)

GO Cellular Component (13): acrosomal vesicle (GO:0001669), nucleus (GO:0005634), centrosome (GO:0005813), adherens junction (GO:0005912), cell leading edge (GO:0031252), protein-containing complex (GO:0032991), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), sperm principal piece (GO:0097228), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
microtubule organizing center	2
cell cycle process	1
microtubule organizing center organization	1
cellular process	1
Rac protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
intraciliary transport	1
cilium assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
regulation of locomotion	1
cell motility	1
regulation of cellular process	1
cellular component organization	1
protein binding	1
binding	1
secretory granule	1
intracellular membrane-bounded organelle	1
centriole	1
cell-cell junction	1
cellular_component	1
centrosome	1
cilium	1
sperm flagellum	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cell junction	1

Protein interactions and networks

STRING

1277 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SSX2IP	SSX3	Q99909	822
SSX2IP	AFDN	P55196	814
SSX2IP	SSX4	O60224	806
SSX2IP	SSX1	Q16384	761
SSX2IP	WRAP73	Q9P2S5	648
SSX2IP	RAB3IP	Q96QF0	596
SSX2IP	LMO7	Q8WWI1	526
SSX2IP	CEP131	Q9UPN4	519
SSX2IP	SV2B	Q7L1I2	500
SSX2IP	KIFC1	Q9BW19	488
SSX2IP	CEP72	Q9P209	475
SSX2IP	PIBF1	Q8WXW3	449
SSX2IP	CEP290	O15078	447
SSX2IP	CCDC14	Q49A88	432
SSX2IP	PASD1	Q8IV76	418

IntAct

466 interactions, top by confidence:

A	B	Type	Score
PRPF31	SSX2IP	psi-mi:“MI:0915”(physical association)	0.720
SSX2IP	ZNF250	psi-mi:“MI:0915”(physical association)	0.720
SSX2IP	SSX2	psi-mi:“MI:0915”(physical association)	0.720
MORN4	SSX2IP	psi-mi:“MI:0915”(physical association)	0.720
SSX2IP	PRPF31	psi-mi:“MI:0915”(physical association)	0.720
SSX2IP	TOP3B	psi-mi:“MI:0915”(physical association)	0.670
SSX2IP	CCNH	psi-mi:“MI:0915”(physical association)	0.670
SSX2IP	ZRSR2	psi-mi:“MI:0915”(physical association)	0.670
SSX2IP	ZGPAT	psi-mi:“MI:0915”(physical association)	0.670
SSX2IP	XIAP	psi-mi:“MI:0915”(physical association)	0.670
TFIP11	SSX2IP	psi-mi:“MI:0915”(physical association)	0.670
CCNH	SSX2IP	psi-mi:“MI:0915”(physical association)	0.670
ZRSR2	SSX2IP	psi-mi:“MI:0915”(physical association)	0.670
ZGPAT	SSX2IP	psi-mi:“MI:0915”(physical association)	0.670
SSX2IP	TFIP11	psi-mi:“MI:0915”(physical association)	0.670
CEP55	SSX2IP	psi-mi:“MI:0915”(physical association)	0.660
TRIM37	SSX2IP	psi-mi:“MI:0915”(physical association)	0.660
SSX2IP	CEP55	psi-mi:“MI:0915”(physical association)	0.660
SSX2IP	TRIM42	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (389): SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid), SSX2IP (Two-hybrid)

ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2AIW0, A2AM05, A2CE83, A6PWD2, E7F5E1, O60296, P27628, P28290, P60853, Q0VF96, Q28GJ0, Q2KJD6, Q2M243, Q2MJV9, Q3V036, Q4KLH6, Q5R9L2, Q5RHB5, Q5SZL2, Q5U2Y9, Q5U3Z6, Q5U4W1, Q6AW69, Q6DIS8, Q6NRK1, Q6NRX3, Q6P2H3, Q6PCQ0, Q6ZQ06, Q70YC5, Q804T6, Q80ST9, Q86VQ0, Q8BMK0, Q8C115, Q8CFC9, Q8CGZ2

Diamond homologs: H2MTR9, Q6NRK1, Q6NRX3, Q8CGZ2, Q8VC66, Q9Y2D8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2420 predictions. Top by Δscore:

Variant	Effect	Δscore
1:84647500:T:TA	donor_gain	1.0000
1:84648388:A:T	acceptor_gain	1.0000
1:84652002:C:CT	acceptor_gain	1.0000
1:84655833:T:TA	donor_gain	1.0000
1:84656001:TGCTG:T	acceptor_gain	1.0000
1:84656003:CTG:C	acceptor_gain	1.0000
1:84656006:C:CC	acceptor_gain	1.0000
1:84656009:T:TC	acceptor_gain	1.0000
1:84656344:TCAC:T	donor_loss	1.0000
1:84656345:CACC:C	donor_loss	1.0000
1:84656346:ACC:A	donor_loss	1.0000
1:84656480:TGAAA:T	acceptor_gain	1.0000
1:84656482:AAAC:A	acceptor_loss	1.0000
1:84656483:AA:A	acceptor_gain	1.0000
1:84656485:C:CC	acceptor_gain	1.0000
1:84662196:A:AC	donor_gain	1.0000
1:84662197:C:CC	donor_gain	1.0000
1:84662197:CAGTT:C	donor_gain	1.0000
1:84662265:T:A	donor_gain	1.0000
1:84662454:CCTGG:C	donor_gain	1.0000
1:84662528:TAG:T	acceptor_gain	1.0000
1:84662528:TAGC:T	acceptor_loss	1.0000
1:84662529:AGC:A	acceptor_loss	1.0000
1:84662530:GCT:G	acceptor_loss	1.0000
1:84662531:C:CC	acceptor_gain	1.0000
1:84664394:G:C	donor_gain	1.0000
1:84664411:GTTTA:G	donor_loss	1.0000
1:84664412:TTTA:T	donor_loss	1.0000
1:84664413:TTA:T	donor_loss	1.0000
1:84664414:TAC:T	donor_loss	1.0000

AlphaMissense

4090 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:84655845:C:G	R459P	0.999
1:84655852:C:G	A457P	0.999
1:84655855:C:G	A456P	0.999
1:84658360:A:G	W346R	0.999
1:84658360:A:T	W346R	0.999
1:84662295:A:G	L277P	0.999
1:84669790:A:G	L106P	0.999
1:84655842:A:G	L460P	0.998
1:84655851:G:T	A457D	0.998
1:84658350:A:G	L349S	0.998
1:84658383:A:G	L338P	0.998
1:84662283:A:G	L281P	0.998
1:84664467:A:G	L208P	0.998
1:84664482:C:G	R203P	0.998
1:84664490:T:A	R200S	0.998
1:84664490:T:G	R200S	0.998
1:84666141:A:G	L173P	0.998
1:84666225:A:G	L145P	0.998
1:84669706:A:G	L134P	0.998
1:84655862:A:C	F453L	0.997
1:84655862:A:T	F453L	0.997
1:84655864:A:G	F453L	0.997
1:84655871:T:A	R450S	0.997
1:84655871:T:G	R450S	0.997
1:84664455:A:G	L212P	0.997
1:84664504:G:C	H196D	0.997
1:84664521:C:G	R190P	0.997
1:84669685:A:G	L141P	0.997
1:84655863:A:G	F453S	0.996
1:84655926:A:G	L432P	0.996

dbSNP variants (sampled 300 via entrez): RS1000036554 (1:84669217 T>C), RS1000052245 (1:84680251 A>C), RS1000103116 (1:84688544 A>G), RS1000372025 (1:84655713 C>T), RS1000384111 (1:84661992 G>A), RS1000405377 (1:84648401 G>A,C,T), RS1000471367 (1:84675155 A>G), RS1000551458 (1:84650891 C>G), RS1000622946 (1:84649384 T>C), RS1000708338 (1:84657405 T>C), RS1000728812 (1:84682526 G>A,T), RS1000743284 (1:84665759 G>A,C), RS1000820035 (1:84657596 A>G,T), RS1000896948 (1:84653073 ACG>A), RS1001008938 (1:84646656 A>G)

Disease associations

OMIM: gene MIM:608690 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003254_10	Urinary albumin-to-creatinine ratio in non-diabetics	7.000000e-06
GCST004518_12	Waist-to-hip ratio adjusted for body mass index	4.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007778	urinary albumin to creatinine ratio
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	6
trichostatin A	affects cotreatment, decreases expression	3
Cisplatin	affects reaction, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
afuresertib	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Zoledronic Acid	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Azacitidine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Coumestrol	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	increases 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_KU07	HeLa SilenciX SSX2IP	Cancer cell line	Female

Clinical trials (associated diseases)

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