POM121

Summary

POM121 (POM121 transmembrane nucleoporin, HGNC:19702) is a protein-coding gene on chromosome 7q11.23, encoding Nuclear envelope pore membrane protein POM 121 (Q96HA1). Essential component of the nuclear pore complex (NPC).

This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed.

Source: NCBI Gene 9883 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 200 total
• MANE Select transcript: NM_001387691

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19702
Approved symbol	POM121
Name	POM121 transmembrane nucleoporin
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A
Ensembl gene	ENSG00000196313
Ensembl biotype	protein_coding
OMIM	615753
Entrez	9883

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000395270, ENST00000434423, ENST00000627934, ENST00000897647, ENST00000897648

RefSeq mRNA: 23 — MANE Select: NM_001387691 NM_001257190, NM_001367610, NM_001387685, NM_001387686, NM_001387687, NM_001387688, NM_001387689, NM_001387691, NM_001387692, NM_001387693, NM_001387694, NM_001387695, NM_001387696, NM_001387697, NM_001387698, NM_001387699, NM_001387700, NM_001387701, NM_001387702, NM_001387703, NM_001387704, NM_001387705, NM_172020

CCDS: CCDS5542, CCDS59059, CCDS94112

Canonical transcript exons

ENST00000434423 — 13 exons

Exon	Start	End
ENSE00000695651	72941837	72943522
ENSE00001020827	72946137	72948299
ENSE00001610826	72925095	72925765
ENSE00002440786	72940414	72940516
ENSE00002452001	72939336	72939409
ENSE00002457525	72939847	72939968
ENSE00002468978	72938590	72938681
ENSE00002478850	72926802	72926963
ENSE00002503536	72940817	72940993
ENSE00002509436	72929940	72930111
ENSE00002531708	72945586	72945708
ENSE00002533604	72928385	72928465
ENSE00003517486	72926262	72926477

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 89.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6726 / max 148.7481, expressed in 1816 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78999	13.1276	1795
79002	6.9400	1754
79000	1.6050	1019

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	89.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.09	gold quality
ventricular zone	UBERON:0003053	88.62	gold quality
cerebellar hemisphere	UBERON:0002245	88.30	gold quality
cerebellar cortex	UBERON:0002129	88.23	gold quality
body of stomach	UBERON:0001161	88.13	gold quality
gastrocnemius	UBERON:0001388	88.07	gold quality
left ovary	UBERON:0002119	87.87	gold quality
omental fat pad	UBERON:0010414	87.87	gold quality
ganglionic eminence	UBERON:0004023	87.84	gold quality
stromal cell of endometrium	CL:0002255	87.83	gold quality
peritoneum	UBERON:0002358	87.80	gold quality
cortical plate	UBERON:0005343	87.76	gold quality
body of pancreas	UBERON:0001150	87.74	gold quality
right ovary	UBERON:0002118	87.59	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.56	gold quality
left uterine tube	UBERON:0001303	87.38	gold quality
muscle of leg	UBERON:0001383	87.25	gold quality
left adrenal gland	UBERON:0001234	87.18	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.07	gold quality
left adrenal gland cortex	UBERON:0035825	87.07	gold quality
right adrenal gland cortex	UBERON:0035827	87.07	gold quality
adenohypophysis	UBERON:0002196	87.00	gold quality
colonic epithelium	UBERON:0000397	86.99	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	86.95	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.93	gold quality
lower esophagus	UBERON:0013473	86.92	gold quality
body of uterus	UBERON:0009853	86.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.83	gold quality
right lobe of liver	UBERON:0001114	86.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.29
E-CURD-112	yes	3.64
E-MTAB-6386	no	359.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting POM121, 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-4283	100.00	66.42	2097
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-6762-3P	99.66	66.94	1188

Literature-anchored findings (GeneRIF, showing 14)

• RNAi experiments showed that efficient depletion of both Pom121 proteins significantly reduces assembled nuclear pore complexes on nuclear envelope. (PMID:17900573)
• The nuclear localization signal sites of Pom121 affect its function in nuclear pore complex assembly both by influencing nucleoporin interactions and pore membrane structure. (PMID:20624389)
• The the N terminus of Pom121 directly binds the beta-propeller regions of Nup155 and Nup160. (PMID:20974814)
• Data suggest that the nuclear migration of Pom121 and its subsequent interaction with inner nuclear membrane proteins are required to initiate interphase nuclear pore complex assembly. (PMID:21289085)
• The conserved features of the NLSs of ScHeh1, ScHeh2, and RnPom121 and the effective sorting of Heh2-derived reporters in human cells suggest that active import is conserved but confined to a small subset of INM proteins. (PMID:26179916)
• findings implicate alternate transcription initiation as a mechanism to increase the functional diversity of NPC components, such as POM121 (PMID:27198230)
• Taken together, these results showed that full-length Pom121 enables efficient HIV-1 pre-integration complex nuclear import, and suggested that this process may rely on KPNB1 dependent classical cargo nuclear transportation way. (PMID:29957337)
• POM121 promotes prostate cancer progression by enhancing importin-dependent nuclear transport of key oncogenic (E2F1, MYC) and prostate cancer-specific (AR-GATA2) transcription factors (PMID:30100187)
• POM121 overexpression is related to a poor prognosis in colorectal cancer. (PMID:31858845)
• G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD. (PMID:32673563)
• POM121 is a novel marker for predicting the prognosis of laryngeal cancer. (PMID:33016327)
• Clinical Significance of POM121 Expression in Lung Cancer. (PMID:33296260)
• Up-regulation of POM121 is linked to prostate cancer aggressiveness and serves as a prognostic biomarker. (PMID:35725938)
• Nuclear pore protein POM121 regulates subcellular localization and transcriptional activity of PPARgamma. (PMID:38177114)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pom121	ENSDARG00000055113
mus_musculus	Pom121	ENSMUSG00000053293
rattus_norvegicus	Pom121	ENSRNOG00000001449
drosophila_melanogaster	Nup153	FBGN0061200

Paralogs (6): NUP153 (ENSG00000124789), NUP214 (ENSG00000126883), POM121L2 (ENSG00000158553), NPAP1 (ENSG00000185823), POM121L12 (ENSG00000221900), POM121C (ENSG00000272391)

Protein

Protein identifiers

Nuclear envelope pore membrane protein POM 121 — Q96HA1 (reviewed: Q96HA1)

Alternative names: Nuclear envelope pore membrane protein POM 121A, Nucleoporin Nup121, Pore membrane protein of 121 kDa

All UniProt accessions (1): Q96HA1

UniProt curated annotations — full annotation on UniProt →

Function. Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL).

Subcellular location. Nucleus. Nuclear pore complex. Nucleus membrane. Endoplasmic reticulum membrane.

Domain organisation. Contains F-X-F-G repeats.

Similarity. Belongs to the POM121 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96HA1-1	1	yes
Q96HA1-2	2
Q96HA1-3	3

RefSeq proteins (23): NP_001244119, NP_001354539, NP_001374614, NP_001374615, NP_001374616, NP_001374617, NP_001374618, NP_001374620, NP_001374621, NP_001374622, NP_001374623, NP_001374624, NP_001374625, NP_001374626, NP_001374627, NP_001374628, NP_001374629, NP_001374630, NP_001374631, NP_001374632, NP_001374633, NP_001374634, NP_742017 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026054	Nucleoporin	Family

Pfam: PF15229

UniProt features (39 total): compositionally biased region 13, region of interest 9, modified residue 6, sequence conflict 6, splice variant 2, chain 1, transmembrane region 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5T6W	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HA1-F1	42.68	0.03

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): 94, 345, 351, 371, 393, 396

Function

Pathways and Gene Ontology

Reactome pathways

32 pathways

ID	Pathway
R-HSA-1169408	ISG15 antiviral mechanism
R-HSA-159227	Transport of the SLBP independent Mature mRNA
R-HSA-159230	Transport of the SLBP Dependant Mature mRNA
R-HSA-159231	Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054	Rev-mediated nuclear export of HIV RNA
R-HSA-168271	Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276	NS1 Mediated Effects on Host Pathways
R-HSA-168325	Viral Messenger RNA Synthesis
R-HSA-168333	NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822	Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746	Nuclear import of Rev protein
R-HSA-180910	Vpr-mediated nuclear import of PICs
R-HSA-1855170	IPs transport between nucleus and cytosol
R-HSA-1855196	IP3 and IP4 transport between cytosol and nucleus
R-HSA-1855229	IP6 and IP7 transport between cytosol and nucleus
R-HSA-191859	snRNP Assembly
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
R-HSA-3232142	SUMOylation of ubiquitinylation proteins
R-HSA-3301854	Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453	Regulation of HSF1-mediated heat shock response
R-HSA-4085377	SUMOylation of SUMOylation proteins
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-4570464	SUMOylation of RNA binding proteins
R-HSA-4615885	SUMOylation of DNA replication proteins
R-HSA-5619107	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-9609690	HCMV Early Events
R-HSA-9610379	HCMV Late Events
R-HSA-9615933	Postmitotic nuclear pore complex (NPC) reformation

MSigDB gene sets: 277 (showing top): MORF_DNMT1, REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MORF_RRM1, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MORF_UBE2N, GENTILE_RESPONSE_CLUSTER_D3, MORF_HDAC2, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, TTGGGAG_MIR150, PUJANA_CHEK2_PCC_NETWORK

GO Biological Process (5): RNA export from nucleus (GO:0006405), protein import into nucleus (GO:0006606), nucleocytoplasmic transport (GO:0006913), mRNA transport (GO:0051028), protein transport (GO:0015031)

GO Molecular Function (3): nuclear localization sequence binding (GO:0008139), structural constituent of nuclear pore (GO:0017056), protein binding (GO:0005515)

GO Cellular Component (8): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), endoplasmic reticulum membrane (GO:0005789), nuclear membrane (GO:0031965), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Transport of Mature mRNAs Derived from Intronless Transcripts	3
Inositol phosphate metabolism	3
Interactions of Rev with host cellular proteins	2
Influenza Infection	2
SUMO E3 ligases SUMOylate target proteins	2
Antimicrobial mechanism of IFN-stimulated genes	1
Transport of Mature Transcript to Cytoplasm	1
Late Phase of HIV Life Cycle	1
Influenza Viral RNA Transcription and Replication	1
Export of Viral Ribonucleoproteins from Nucleus	1
Glycolysis	1
Interactions of Vpr with host cellular proteins	1
Metabolism of non-coding RNA	1
Nuclear Envelope Breakdown	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA transport	2
nucleus	2
endomembrane system	2
nuclear envelope	2
cellular anatomical structure	2
organelle membrane	2
intracellular membrane-bounded organelle	2
nuclear export	1
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
nuclear transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
signal sequence receptor activity	1
structural molecule activity	1
nuclear pore	1
nucleocytoplasmic transport	1
binding	1
organelle envelope	1
nuclear protein-containing complex	1
nuclear lumen	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1

Protein interactions and networks

STRING

1260 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POM121	CADPS	Q9ULU8	747
POM121	RFC5	P40937	681
POM121	RFC3	P40938	678
POM121	NUP155	O75694	664
POM121	EVPL	Q92817	664
POM121	NUP160	Q12769	658
POM121	NUP93	Q8N1F7	627
POM121	GRB2	P29354	562
POM121	ABL1	P00519	559
POM121	RFC2	P32846	529
POM121	RFC4	P35249	527
POM121	GGTLC2	Q14390	477
POM121	URB1	O60287	466
POM121	NUP35	Q8NFH5	460
POM121	NUP107	P57740	454

IntAct

169 interactions, top by confidence:

A	B	Type	Score
WRAP53	TCP1	psi-mi:“MI:0914”(association)	0.690
AGR2	POM121	psi-mi:“MI:0915”(physical association)	0.670
FXR2	POM121	psi-mi:“MI:0915”(physical association)	0.670
TEX11	POM121	psi-mi:“MI:0915”(physical association)	0.670
RBPMS	POM121	psi-mi:“MI:0915”(physical association)	0.670
POM121	TEX11	psi-mi:“MI:0915”(physical association)	0.670
POM121	FXR2	psi-mi:“MI:0915”(physical association)	0.670
POM121	RBPMS	psi-mi:“MI:0915”(physical association)	0.670
POM121	AGR2	psi-mi:“MI:0915”(physical association)	0.670
PRMT2	SAMD1	psi-mi:“MI:0914”(association)	0.640
POM121	HOMER3	psi-mi:“MI:0915”(physical association)	0.560
POM121	PAXIP1	psi-mi:“MI:0915”(physical association)	0.560
CEP76	POM121	psi-mi:“MI:0915”(physical association)	0.560
PAXIP1	POM121	psi-mi:“MI:0915”(physical association)	0.560
KLRG2	GXYLT2	psi-mi:“MI:0914”(association)	0.530
LTBR	ZNF724	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530

BioGRID (222): POM121 (Two-hybrid), POM121 (Two-hybrid), AGR2 (Two-hybrid), RBPMS (Two-hybrid), PAXIP1 (Two-hybrid), TEX11 (Two-hybrid), CEP76 (Two-hybrid), BRCA1 (Two-hybrid), POM121 (Affinity Capture-MS), POM121 (Affinity Capture-MS), POM121 (Affinity Capture-MS), POM121 (Affinity Capture-MS), POM121 (Affinity Capture-MS), POM121 (Affinity Capture-MS), POM121 (Affinity Capture-MS)

ESM2 similar proteins: A0JME2, A5H447, A6NF01, A8CG34, E9Q3G8, F4ID16, G0SDP9, G5E8Z2, O08587, O15504, O88797, O95081, P20676, P49790, P49791, P52591, P52594, P98082, Q03173, Q0VA45, Q2TA45, Q4KLH5, Q5FVW4, Q5PRE5, Q5RB98, Q5SV85, Q5XGN1, Q5ZI22, Q5ZIE8, Q5ZM88, Q64028, Q640Z6, Q6P0U9, Q80WC7, Q86XN7, Q8CIC2, Q8K2K6, Q8K3Z9, Q8L7F7, Q8R080

Diamond homologs: A6NF01, A6NNC1, A8CG34, P52591, Q3SYA9, Q8K3Z9, Q96HA1, Q96KW2, Q6PJE2, Q8N7R1, P10761, P21754, P23491, P42098, P48830, P48831, P48832, P48833, P53785, P53786, P79762, P97708, Q5SW25

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POM121	“form complex”	NPC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 170 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
NS1 Mediated Effects on Host Pathways	10	29.7×	4e-10
Transport of Ribonucleoproteins into the Host Nucleus	7	26.0×	1e-06
Nuclear import of Rev protein	7	24.5×	1e-06
IPs transport between nucleus and cytosol	6	23.8×	9e-06
IP3 and IP4 transport between cytosol and nucleus	6	23.8×	9e-06
IP6 and IP7 transport between cytosol and nucleus	6	23.8×	9e-06
Regulation of Glucokinase by Glucokinase Regulatory Protein	6	22.3×	1e-05
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)	6	22.3×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
NLS-bearing protein import into nucleus	6	34.9×	6e-06
nucleocytoplasmic transport	6	17.0×	3e-04
mRNA transport	8	15.3×	1e-05
protein import into nucleus	12	12.5×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	152
Likely benign	22
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

1688 predictions. Top by Δscore:

Variant	Effect	Δscore
7:72926473:GCGAT:G	donor_gain	1.0000
7:72926475:GAT:G	donor_gain	1.0000
7:72926477:TG:T	donor_loss	1.0000
7:72926478:G:GG	donor_gain	1.0000
7:72926480:GAGTA:G	donor_loss	1.0000
7:72926800:A:AG	acceptor_gain	1.0000
7:72926801:G:GG	acceptor_gain	1.0000
7:72926801:GACCA:G	acceptor_gain	1.0000
7:72926920:G:GT	donor_gain	1.0000
7:72926951:A:T	donor_gain	1.0000
7:72926960:GAAG:G	donor_gain	1.0000
7:72928466:G:GG	donor_gain	1.0000
7:72929936:TTA:T	acceptor_loss	1.0000
7:72929937:TAGG:T	acceptor_loss	1.0000
7:72929938:A:AG	acceptor_gain	1.0000
7:72929938:A:G	acceptor_loss	1.0000
7:72929939:G:A	acceptor_loss	1.0000
7:72929939:G:GG	acceptor_gain	1.0000
7:72929939:GGCCT:G	acceptor_gain	1.0000
7:72938588:A:AG	acceptor_gain	1.0000
7:72938589:G:GG	acceptor_gain	1.0000
7:72939334:A:AG	acceptor_gain	1.0000
7:72939335:G:GG	acceptor_gain	1.0000
7:72939335:GA:G	acceptor_gain	1.0000
7:72939335:GAGAA:G	acceptor_gain	1.0000
7:72939390:G:GT	donor_gain	1.0000
7:72939407:AGGG:A	donor_loss	1.0000
7:72939408:GG:G	donor_gain	1.0000
7:72939409:GG:G	donor_gain	1.0000
7:72939411:T:A	donor_loss	1.0000

AlphaMissense

7934 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:72926441:T:C	I275T	0.996
7:72926441:T:G	I275S	0.995
7:72930088:A:C	S418R	0.995
7:72930090:C:A	S418R	0.995
7:72930090:C:G	S418R	0.995
7:72926441:T:A	I275N	0.993
7:72928419:T:C	F353L	0.992
7:72928421:T:A	F353L	0.992
7:72928421:T:G	F353L	0.992
7:72946213:G:C	R1243S	0.992
7:72946213:G:T	R1243S	0.992
7:72929955:G:C	K373N	0.990
7:72929955:G:T	K373N	0.990
7:72926365:T:A	W250R	0.989
7:72926365:T:C	W250R	0.989
7:72929940:G:C	K368N	0.989
7:72929940:G:T	K368N	0.989
7:72930079:A:C	S415R	0.989
7:72930081:T:A	S415R	0.989
7:72930081:T:G	S415R	0.989
7:72938629:A:C	S439R	0.987
7:72938631:C:A	S439R	0.987
7:72938631:C:G	S439R	0.987
7:72946212:G:T	R1243M	0.986
7:72946212:G:C	R1243T	0.985
7:72926367:G:C	W250C	0.984
7:72926367:G:T	W250C	0.984
7:72929953:A:G	K373E	0.984
7:72926422:A:C	S269R	0.982
7:72926424:C:A	S269R	0.982

dbSNP variants (sampled 300 via entrez): RS10226353 (7:72903124 G>A,T), RS10231271 (7:72893994 G>A,T), RS10263660 (7:72897808 C>A,G,T), RS10263853 (7:72897807 G>A,T), RS1044501 (7:72947839 T>C,G), RS1044509 (7:72947868 T>C,G), RS1044877 (7:72948675 T>C), RS1044881 (7:72948711 C>G,T), RS1044884 (7:72948715 A>G), RS1044929 (7:72948964 A>G), RS1044944 (7:72949407 C>T), RS1044945 (7:72949416 G>A), RS10452713 (7:72923919 T>G), RS1062883 (7:72946452 C>G,T), RS1065135 (7:72948927 T>C)

Disease associations

OMIM: gene MIM:615753 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001521_2	Subcutaneous adipose tissue	7.000000e-06
GCST010244_95	Triglyceride levels	3.000000e-09
GCST90020026_563	Hip index	3.000000e-10
GCST90020028_161	Hip circumference adjusted for BMI	3.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	3
Arsenic	affects methylation, increases abundance, increases expression	3
bisphenol A	affects cotreatment, affects expression, increases abundance, decreases expression	2
Tobacco Smoke Pollution	decreases methylation, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
dicrotophos	increases expression	1
coumarin	increases phosphorylation	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Oils, Volatile	increases abundance, affects cotreatment, affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	decreases phosphorylation	1
Valproic Acid	decreases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A9H3	HeLap121G	Cancer cell line	Female
CVCL_A9I6	HeLa mCherry-POM121	Cancer cell line	Female

Clinical trials (associated diseases)

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