POLR2G

Summary

POLR2G (RNA polymerase II subunit G, HGNC:9194) is a protein-coding gene on chromosome 11q12.3, encoding DNA-directed RNA polymerase II subunit RPB7 (P62487). Core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates. It is a common-essential gene (DepMap: required in 99.1% of cancer cell lines).

This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation.

Source: NCBI Gene 5436 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 22 total
• Cancer dependency (DepMap): dependent in 99.1% of screened cell lines (common-essential)
• MANE Select transcript: NM_002696

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9194
Approved symbol	POLR2G
Name	RNA polymerase II subunit G
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	hRPB19, hsRPB7, RPB7
Ensembl gene	ENSG00000168002
Ensembl biotype	protein_coding
OMIM	602013
Entrez	5436

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron

ENST00000301788, ENST00000524819, ENST00000525455, ENST00000526368, ENST00000527435, ENST00000531944, ENST00000531996, ENST00000533442, ENST00000860210, ENST00000860211, ENST00000913983, ENST00000913984, ENST00000955067

RefSeq mRNA: 1 — MANE Select: NM_002696 NM_002696

CCDS: CCDS31585

Canonical transcript exons

ENST00000301788 — 8 exons

Exon	Start	End
ENSE00002144872	62761580	62761660
ENSE00003477960	62766494	62766710
ENSE00003502799	62765182	62765232
ENSE00003508148	62765340	62765405
ENSE00003557045	62762867	62763026
ENSE00003565118	62761795	62761904
ENSE00003621890	62765653	62765724
ENSE00003630730	62766243	62766276

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 98.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.8842 / max 455.4540, expressed in 1821 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114743	33.9263	1816
114742	11.1054	1798
114741	2.0700	1369
114744	1.7825	970

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.21	gold quality
ventricular zone	UBERON:0003053	98.21	gold quality
ganglionic eminence	UBERON:0004023	97.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.49	gold quality
endothelial cell	CL:0000115	97.41	silver quality
embryo	UBERON:0000922	97.24	gold quality
cortical plate	UBERON:0005343	97.18	gold quality
right adrenal gland	UBERON:0001233	97.10	gold quality
spinal cord	UBERON:0002240	97.04	gold quality
leukocyte	CL:0000738	96.99	gold quality
right adrenal gland cortex	UBERON:0035827	96.99	gold quality
monocyte	CL:0000576	96.98	gold quality
stromal cell of endometrium	CL:0002255	96.94	gold quality
mononuclear cell	CL:0000842	96.93	gold quality
descending thoracic aorta	UBERON:0002345	96.90	gold quality
rectum	UBERON:0001052	96.69	gold quality
left adrenal gland	UBERON:0001234	96.63	gold quality
lymph node	UBERON:0000029	96.60	gold quality
spleen	UBERON:0002106	96.58	gold quality
right coronary artery	UBERON:0001625	96.55	gold quality
thoracic aorta	UBERON:0001515	96.54	gold quality
ascending aorta	UBERON:0001496	96.51	gold quality
left coronary artery	UBERON:0001626	96.49	gold quality
periodontal ligament	UBERON:0008266	96.49	gold quality
islet of Langerhans	UBERON:0000006	96.44	gold quality
left adrenal gland cortex	UBERON:0035825	96.42	gold quality
skin of leg	UBERON:0001511	96.40	gold quality
tibial nerve	UBERON:0001323	96.34	gold quality
mucosa of transverse colon	UBERON:0004991	96.33	gold quality
aorta	UBERON:0000947	96.30	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6058	no	576.35
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting POLR2G, 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-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-589-5P	98.72	66.96	927
HSA-MIR-595	98.25	67.44	699
HSA-MIR-5581-5P	97.91	66.50	965
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-4314	97.50	67.30	1369

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.1% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• Identification of the RNA binding region of Rpb7. (PMID:16282592)
• the emerging transcript cross-links to the Rpb7 subunit of RNA polymerase II in various complexes containing 26- to 32-nt transcripts (PMID:16327806)
• TFIIF and Rpb7 are involved in both early and late transcriptional stages (PMID:17848138)
• The function of Rpb7 interaction with rpb4 in human cells indicate that Rpb7 have gene-specific effects but are also more generally required for human cell survival. (PMID:23073835)
• Study of datasets analyzing the gene expression profiles and DNA methylation data of gestational Diabetes Mellitus (GDM) and confirmed through real time PCR in placenta tissue of three GDM samples and three normal samples identified Oas1, Ppie, Polr2g as possible pathogenic target genes of GDM by combining protein-protein interaction analysis. (PMID:30389953)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	polr2g	ENSDARG00000056127
mus_musculus	Polr2g	ENSMUSG00000071662
rattus_norvegicus	Polr2g	ENSRNOG00000019439
drosophila_melanogaster	Polr2G	FBGN0051155
caenorhabditis_elegans	rpb-7	WBGENE00021845

Paralogs (2): POLR3H (ENSG00000100413), POLR1F (ENSG00000105849)

Protein

Protein identifiers

DNA-directed RNA polymerase II subunit RPB7 — P62487 (reviewed: P62487)

Alternative names: DNA-directed RNA polymerase II subunit G, RNA polymerase II 19 kDa subunit

All UniProt accessions (5): E9PIU7, E9PKH3, E9PS03, P62487, H0YEE4

UniProt curated annotations — full annotation on UniProt →

Function. Core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. POLR2G/RPB7 is part of a subcomplex with POLR2D/RPB4 that binds to a pocket formed by POLR2A/RPB1, POLR2B/RPB2 and POLR2F/RPABC2 at the base of the clamp element. The POLR2D/RPB4-POLR2G/RPB7 subcomplex seems to lock the clamp via POLR2G/RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The POLR2D/RPB4-POLR2G/RPB7 subcomplex binds single-stranded DNA and RNA.

Subunit / interactions. Component of the RNA polymerase II (Pol II) core complex consisting of 12 subunits: a ten-subunit catalytic core composed of POLR2A/RPB1, POLR2B/RPB2, POLR2C/RPB3, POLR2I/RPB9, POLR2J/RPB11, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5 and a mobile stalk composed of two subunits POLR2D/RPB4 and POLR2G/RPB7, protruding from the core and functioning primarily in transcription initiation. Part of Pol II(G) complex, in which Pol II core associates with an additional subunit POLR2M; unlike conventional Pol II, Pol II(G) functions as a transcriptional repressor. Part of TBP-based Pol II pre-initiation complex (PIC), in which Pol II core assembles with general transcription factors and other specific initiation factors including GTF2E1, GTF2E2, GTF2F1, GTF2F2, TCEA1, ERCC2, ERCC3, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2A1, GTF2A2, GTF2B and TBP; this large multi-subunit PIC complex mediates DNA unwinding and targets Pol II core to the transcription start site where the first phosphodiester bond forms.

Subcellular location. Nucleus.

Similarity. Belongs to the eukaryotic RPB7/RPC8 RNA polymerase subunit family.

RefSeq proteins (1): NP_002687* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003029	S1_domain	Domain
IPR005576	Rpb7-like_N	Domain
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR036898	RNA_pol_Rpb7-like_N_sf	Homologous_superfamily
IPR045113	Rpb7-like	Family

Pfam: PF00575, PF03876

UniProt features (32 total): strand 15, mutagenesis site 12, helix 3, chain 1, turn 1

Structure

Experimental structures (PDB)

22 structures.

PDB	Method	Resolution (Å)
9EHZ	ELECTRON MICROSCOPY	2.6
2C35	X-RAY DIFFRACTION	2.7
8XSO	ELECTRON MICROSCOPY	2.7
8XRM	ELECTRON MICROSCOPY	3.13
9EI1	ELECTRON MICROSCOPY	3.2
9EI3	ELECTRON MICROSCOPY	3.2
8XRJ	ELECTRON MICROSCOPY	3.6
9EI4	ELECTRON MICROSCOPY	3.7
5IYB	ELECTRON MICROSCOPY	3.9
5IYC	ELECTRON MICROSCOPY	3.9
5IYD	ELECTRON MICROSCOPY	3.9
6DRD	ELECTRON MICROSCOPY	3.9
8XVS	ELECTRON MICROSCOPY	4.1
6XRE	ELECTRON MICROSCOPY	4.6
9VD9	ELECTRON MICROSCOPY	4.6
7LBM	ELECTRON MICROSCOPY	4.8
5IYA	ELECTRON MICROSCOPY	5.4
5IY9	ELECTRON MICROSCOPY	6.3
5IY6	ELECTRON MICROSCOPY	7.2
6O9L	ELECTRON MICROSCOPY	7.2
5IY8	ELECTRON MICROSCOPY	7.9
5IY7	ELECTRON MICROSCOPY	8.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62487-F1	95.65	0.96

Functional residue map

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

Mutagenesis-validated functional residues (12):

Position	Phenotype
14	strongly reduces rna-binding.
151	strongly reduces rna-binding.
153	strongly reduces rna-binding.
158	strongly reduces rna-binding.
33	strongly reduces rna-binding.
41	strongly reduces rna-binding.
90	reduces rna-binding.
93	reduces rna-binding.
94	reduces rna-binding.
107	reduces rna-binding.
109	strongly reduces rna-binding.
111	strongly reduces rna-binding.

Function

Pathways and Gene Ontology

Reactome pathways

76 pathways

ID	Pathway
R-HSA-112382	Formation of RNA Pol II elongation complex
R-HSA-113418	Formation of the Early Elongation Complex
R-HSA-167152	Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158	Formation of the HIV-1 Early Elongation Complex
R-HSA-167160	RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
R-HSA-167161	HIV Transcription Initiation
R-HSA-167162	RNA Polymerase II HIV Promoter Escape
R-HSA-167172	Transcription of the HIV genome
R-HSA-167200	Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167238	Pausing and recovery of Tat-mediated HIV elongation
R-HSA-167242	Abortive elongation of HIV-1 transcript in the absence of Tat
R-HSA-167243	Tat-mediated HIV elongation arrest and recovery
R-HSA-167246	Tat-mediated elongation of the HIV-1 transcript
R-HSA-167287	HIV elongation arrest and recovery
R-HSA-167290	Pausing and recovery of HIV elongation
R-HSA-168325	Viral Messenger RNA Synthesis
R-HSA-203927	MicroRNA (miRNA) biogenesis
R-HSA-5578749	Transcriptional regulation by small RNAs
R-HSA-5601884	PIWI-interacting RNA (piRNA) biogenesis
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-674695	RNA Polymerase II Pre-transcription Events
R-HSA-6781823	Formation of TC-NER Pre-Incision Complex
R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135	Dual incision in TC-NER
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648	TP53 Regulates Transcription of DNA Repair Genes
R-HSA-6803529	FGFR2 alternative splicing
R-HSA-6807505	RNA polymerase II transcribes snRNA genes
R-HSA-72086	mRNA Capping
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 236 (showing top): GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GCM_NPM1, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, REACTOME_SIGNALING_BY_FGFR, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_RAD21, GOBP_TRANSLATIONAL_INITIATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GCM_PSME1, REACTOME_HIV_INFECTION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (7): nuclear-transcribed mRNA catabolic process (GO:0000956), transcription by RNA polymerase II (GO:0006366), transcription initiation at RNA polymerase II promoter (GO:0006367), positive regulation of translational initiation (GO:0045948), positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213), DNA-templated transcription (GO:0006351), DNA-templated transcription initiation (GO:0006352)

GO Molecular Function (6): single-stranded DNA binding (GO:0003697), single-stranded RNA binding (GO:0003727), translation initiation factor binding (GO:0031369), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (5): P-body (GO:0000932), nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase II, core complex (GO:0005665), DNA-directed RNA polymerase complex (GO:0000428)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Transcription of the HIV genome	8
HIV Transcription Elongation	3
Gene Silencing by RNA	3
RNA Polymerase II Transcription Elongation	2
Late Phase of HIV Life Cycle	1
Tat-mediated elongation of the HIV-1 transcript	1
Influenza Viral RNA Transcription and Replication	1
Activation of HOX genes during differentiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
RNA biosynthetic process	2
binding	2
mRNA catabolic process	1
DNA-templated transcription initiation	1
transcription by RNA polymerase II	1
translational initiation	1
regulation of translational initiation	1
positive regulation of translation	1
nuclear-transcribed mRNA poly(A) tail shortening	1
regulation of nuclear-transcribed mRNA poly(A) tail shortening	1
positive regulation of mRNA catabolic process	1
gene expression	1
DNA binding	1
RNA binding	1
protein binding	1
nucleic acid binding	1
cytoplasmic ribonucleoprotein granule	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
RNA polymerase II, holoenzyme	1
nuclear DNA-directed RNA polymerase complex	1
RNA polymerase complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

190 interactions, top by confidence:

A	B	Type	Score
MED10	MED19	psi-mi:“MI:0914”(association)	0.910
PIK3CA	PIK3R2	psi-mi:“MI:0914”(association)	0.900
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
POLR2E	POLR3A	psi-mi:“MI:0914”(association)	0.870
MED18	MED19	psi-mi:“MI:0914”(association)	0.840
MED31	MED19	psi-mi:“MI:0914”(association)	0.840
MED7	MED19	psi-mi:“MI:0914”(association)	0.840
POLR2G	POLR2D	psi-mi:“MI:0914”(association)	0.840
POLR2J	POLR1C	psi-mi:“MI:0914”(association)	0.830
POLR2E	POLR2D	psi-mi:“MI:0915”(physical association)	0.790
MED30	MED19	psi-mi:“MI:0914”(association)	0.790
MED9	MED19	psi-mi:“MI:0914”(association)	0.790
POLR2E	POLR1C	psi-mi:“MI:0914”(association)	0.770
POLR2G	RECQL5	psi-mi:“MI:0914”(association)	0.730
RPRD1B	RECQL5	psi-mi:“MI:0914”(association)	0.730
POLR2D	MED19	psi-mi:“MI:0914”(association)	0.730
POLR2E	MED19	psi-mi:“MI:0914”(association)	0.730
RPRD1B	POLR2D	psi-mi:“MI:0914”(association)	0.730
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
MED26	MED19	psi-mi:“MI:0914”(association)	0.730
POLR2A	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2C	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2D	POLR2C	psi-mi:“MI:0914”(association)	0.730
POLR2J	POLR2D	psi-mi:“MI:0914”(association)	0.730

BioGRID (370): POLR2G (Co-localization), POLR2G (Co-localization), POLR2G (Co-localization), ESR1 (Co-localization), SRC (Co-localization), PSMB9 (Co-localization), POLR2G (Co-localization), TCEB3 (Co-localization), POLR2G (Affinity Capture-MS), POLR2G (Affinity Capture-MS), POLR2G (Affinity Capture-MS), POLR2G (Affinity Capture-MS), POLR2G (Affinity Capture-MS), POLR2G (Two-hybrid), RPAP2 (Affinity Capture-MS)

ESM2 similar proteins: A5GFZ5, A8MWD9, C9WPN6, O35900, O60762, O70152, P02362, P50894, P62084, P62306, P62307, P62308, P62309, P62310, P62311, P62314, P62315, P62318, P62320, P62321, P62323, P62487, P62488, P62489, P82931, Q16576, Q1JQ93, Q24572, Q2TBV5, Q2VIR3, Q32PE9, Q3SWX8, Q3T0Z8, Q3ZBL0, Q3ZC10, Q4R304, Q4R5F6, Q5E9B8, Q5ZMS3, Q60973

Diamond homologs: A6QRA1, P38421, P46279, P62487, P62488, P62489, Q54P04, Q5E9B8, Q6NML5, Q7ZW41, Q8LE42, O14459, O94285, P34087, Q57840

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POLR2G	“form complex”	“RNA Polymerase II”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 117 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
FGFR2 mutant receptor activation	11	106.0×	3e-20
Signaling by FGFR2 IIIa TM	12	91.3×	7e-21
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	16	82.6×	4e-26
RNA Pol II CTD phosphorylation and interaction with CE	16	82.6×	4e-26
Abortive elongation of HIV-1 transcript in the absence of Tat	13	81.7×	2e-21
mRNA Capping	16	77.1×	1e-25
MicroRNA (miRNA) biogenesis	12	69.4×	5e-19
Pausing and recovery of Tat-mediated HIV elongation	14	65.3×	2e-21

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	14	39.8×	2e-16
transcription initiation at RNA polymerase II promoter	8	28.3×	4e-08
RNA polymerase II preinitiation complex assembly	11	28.2×	3e-11
positive regulation of transcription initiation by RNA polymerase II	11	28.2×	3e-11
transcription elongation by RNA polymerase II	6	25.1×	1e-05
somatic stem cell population maintenance	5	11.7×	5e-03
transcription by RNA polymerase II	15	10.0×	4e-09
mRNA splicing, via spliceosome	7	6.0×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

872 predictions. Top by Δscore:

Variant	Effect	Δscore
11:62761661:G:GG	donor_gain	1.0000
11:62761900:GGGAA:G	donor_gain	1.0000
11:62761901:GGAA:G	donor_gain	1.0000
11:62761901:GGAAG:G	donor_gain	1.0000
11:62761902:G:T	donor_gain	1.0000
11:62761902:GAA:G	donor_gain	1.0000
11:62761902:GAAG:G	donor_gain	1.0000
11:62761905:G:GG	donor_gain	1.0000
11:62762861:TTGCA:T	acceptor_loss	1.0000
11:62762862:TGCAG:T	acceptor_loss	1.0000
11:62762863:GCAGG:G	acceptor_loss	1.0000
11:62762864:CAG:C	acceptor_loss	1.0000
11:62762865:A:AT	acceptor_loss	1.0000
11:62762866:G:GC	acceptor_loss	1.0000
11:62762866:GGT:G	acceptor_gain	1.0000
11:62762953:T:G	donor_gain	1.0000
11:62765233:G:GG	donor_gain	1.0000
11:62765338:A:AG	acceptor_gain	1.0000
11:62765339:G:GG	acceptor_gain	1.0000
11:62765339:GT:G	acceptor_gain	1.0000
11:62765339:GTC:G	acceptor_gain	1.0000
11:62765339:GTCC:G	acceptor_gain	1.0000
11:62765339:GTCCA:G	acceptor_gain	1.0000
11:62765404:AGGT:A	donor_loss	1.0000
11:62765406:G:T	donor_loss	1.0000
11:62765407:T:G	donor_loss	1.0000
11:62765648:CTCA:C	acceptor_loss	1.0000
11:62765649:TCAG:T	acceptor_loss	1.0000
11:62765651:A:AG	acceptor_gain	1.0000
11:62765651:AG:A	acceptor_gain	1.0000

AlphaMissense

1137 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62762872:G:A	G43D	1.000
11:62762887:T:A	V48D	1.000
11:62763010:T:A	V89D	1.000
11:62765185:G:A	G96R	1.000
11:62765185:G:C	G96R	1.000
11:62765186:G:A	G96E	1.000
11:62765218:T:C	F107L	1.000
11:62765220:C:A	F107L	1.000
11:62765220:C:G	F107L	1.000
11:62765684:G:C	R144P	1.000
11:62766252:G:C	G161R	1.000
11:62766253:G:A	G161D	1.000
11:62761871:T:C	L30P	0.999
11:62762871:G:C	G43R	0.999
11:62762883:G:C	A47P	0.999
11:62762953:T:A	V70D	0.999
11:62762965:C:A	A74D	0.999
11:62762971:T:A	V76D	0.999
11:62762977:G:C	R78P	0.999
11:62763003:G:C	A87P	0.999
11:62765186:G:T	G96V	0.999
11:62765191:T:C	F98L	0.999
11:62765193:C:A	F98L	0.999
11:62765193:C:G	F98L	0.999
11:62765203:G:A	G102R	0.999
11:62765203:G:C	G102R	0.999
11:62765204:G:A	G102E	0.999
11:62765215:T:C	C106R	0.999
11:62765219:T:C	F107S	0.999
11:62765388:T:G	Y128D	0.999

dbSNP variants (sampled 300 via entrez): RS1000087984 (11:62767077 C>G,T), RS1000149207 (11:62761857 G>A), RS1000840438 (11:62764132 A>G), RS1001294084 (11:62763814 C>T), RS1001722549 (11:62764894 C>G,T), RS1002817287 (11:62763092 C>T), RS1003131757 (11:62763528 T>G), RS1003446597 (11:62763970 G>A,T), RS1003813678 (11:62765813 A>G), RS1003951357 (11:62759579 CT>C,CTT), RS1003968076 (11:62766092 C>A,T), RS1004228243 (11:62761494 G>A), RS1004249569 (11:62759701 G>A), RS1004379541 (11:62761555 G>A,C,T), RS1004432069 (11:62761228 C>T)

Disease associations

OMIM: gene MIM:602013 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005956_2	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_37	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST005962_51	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

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
Arsenic	affects methylation, decreases expression, increases abundance	2
Particulate Matter	decreases expression, increases abundance	2
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression, increases abundance	1
CD 437	decreases expression	1
chloropicrin	increases expression	1
K 7174	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Catechin	affects cotreatment, increases expression	1
Cisplatin	increases expression	1
Coumestrol	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Doxorubicin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Valproic Acid	affects expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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