TRIM7

gene
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Also known as RNF90GNIP

Summary

TRIM7 (tripartite motif containing 7, HGNC:16278) is a protein-coding gene on chromosome 5q35.3, encoding E3 ubiquitin-protein ligase TRIM7 (Q9C029). E3 ubiquitin-protein ligase that have both tumor-promoting and tumor-suppressing activities and functions in several biological processes including innate immunity, regulation of ferroptosis as well as cell proliferation and migration.

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 81786 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 82 total
  • MANE Select transcript: NM_203293

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16278
Approved symbolTRIM7
Nametripartite motif containing 7
Location5q35.3
Locus typegene with protein product
StatusApproved
AliasesRNF90, GNIP
Ensembl geneENSG00000146054
Ensembl biotypeprotein_coding
OMIM609315
Entrez81786

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000274773, ENST00000334421, ENST00000393315, ENST00000393319, ENST00000422067, ENST00000504241, ENST00000509199, ENST00000946601

RefSeq mRNA: 6 — MANE Select: NM_203293 NM_033342, NM_203293, NM_203294, NM_203295, NM_203296, NM_203297

CCDS: CCDS43414, CCDS4462, CCDS4463, CCDS4464

Canonical transcript exons

ENST00000274773 — 7 exons

ExonStartEnd
ENSE00001149534181198183181198218
ENSE00001149544181198690181198805
ENSE00001149553181199095181199117
ENSE00001402990181204589181205196
ENSE00001867676181193924181195677
ENSE00003510089181203545181203640
ENSE00003565994181199851181200081

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 96.60.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7419 / max 51.6302, expressed in 861 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
653542.5083825
653530.1866105
653550.046916

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
vastus lateralisUBERON:000137996.60gold quality
quadriceps femorisUBERON:000137796.19gold quality
hindlimb stylopod muscleUBERON:000425296.03gold quality
lower esophagus mucosaUBERON:003583494.87gold quality
biceps brachiiUBERON:000150794.77gold quality
gastrocnemiusUBERON:000138894.67gold quality
muscle of legUBERON:000138394.64gold quality
skeletal muscle tissueUBERON:000113494.57gold quality
right hemisphere of cerebellumUBERON:001489094.25gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451194.09gold quality
cerebellar hemisphereUBERON:000224593.81gold quality
cerebellar cortexUBERON:000212993.62gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450293.36gold quality
tibialis anteriorUBERON:000138593.12gold quality
deltoidUBERON:000147692.67gold quality
skin of legUBERON:000151192.52gold quality
cerebellumUBERON:000203792.12gold quality
esophagus mucosaUBERON:000246991.88gold quality
skin of abdomenUBERON:000141691.73gold quality
gingival epitheliumUBERON:000194991.07gold quality
esophagus squamous epitheliumUBERON:000692091.01gold quality
zone of skinUBERON:000001490.85gold quality
body of tongueUBERON:001187690.53gold quality
muscle tissueUBERON:000238589.85gold quality
upper arm skinUBERON:000426389.62gold quality
gingivaUBERON:000182889.07gold quality
apex of heartUBERON:000209886.21gold quality
pharyngeal mucosaUBERON:000035586.15gold quality
upper leg skinUBERON:000426286.00gold quality
oral cavityUBERON:000016784.13gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes4.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting TRIM7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-548P99.9872.253784
HSA-MIR-448799.9664.581252
HSA-MIR-568899.9673.234504
HSA-MIR-990299.8969.152250
HSA-MIR-5010-3P99.8370.602357
HSA-MIR-3180-5P99.8269.122422
HSA-MIR-431999.7669.832586
HSA-MIR-6887-3P99.6667.831778
HSA-MIR-569799.3967.741249
HSA-MIR-520A-5P99.3566.721632
HSA-MIR-525-5P99.3566.851615
HSA-MIR-4685-5P99.2565.991563
HSA-MIR-6837-5P99.2565.471632
HSA-MIR-3619-5P99.0068.872308
HSA-MIR-3190-5P98.8764.891345
HSA-MIR-3194-3P98.8366.221167
HSA-MIR-465698.7966.221306
HSA-MIR-330-5P98.7367.631788
HSA-MIR-214-3P98.7168.122128
HSA-MIR-76198.7168.072051
HSA-MIR-3135B98.6165.331470
HSA-MIR-6852-3P98.5467.601468
HSA-MIR-429098.5165.17907
HSA-MIR-58198.3967.42835
HSA-MIR-4436B-3P98.2565.261494
HSA-MIR-6735-5P98.2465.361488
HSA-MIR-569198.2367.021335
HSA-MIR-6805-3P98.2367.021334
HSA-MIR-7843-5P98.1265.261421
HSA-MIR-892B98.0067.11821

Literature-anchored findings (GeneRIF, showing 18)

  • GNIP, a novel protein that binds and activates glycogenin, the self-glucosylating initiator of glycogen biosynthesis (PMID:11916970)
  • TRIM28 is a specific SUMO E3 ligase of interferon regulatory factor (IRF)7 and negatively regulates its activity and interferon (IFN)-based antiviral responses, in support of the expanding roles of TRIM proteins which regulate innate immunity. (PMID:21940674)
  • GNIP1 is an ubiquitin ligase with a markedly glycogenic effect in skeletal muscle. (PMID:29466708)
  • TRIM7 expression was elevated in human hepatocellular carcinoma (HCC) tissues. TRIM7 knockdown inhibited HCC cell proliferation and induced a G1/S checkpoint. The DUSP6/p38 signaling mediated the functions of TRIM7 in human HCC cells. (PMID:30850165)
  • TRIM7 promotes proliferation and migration of vascular smooth muscle cells in atherosclerosis through activating c-Jun/AP-1. (PMID:31625258)
  • The E3 ubiquitin ligase TRIM7 suppressed hepatocellular carcinoma progression by directly targeting Src protein. (PMID:31802035)
  • E3 ubiquitin ligase TRIM7 negatively regulates NF-kappa B signaling pathway by degrading p65 in lung cancer. (PMID:31958511)
  • N6-Methyladenosine modification of the TRIM7 positively regulates tumorigenesis and chemoresistance in osteosarcoma through ubiquitination of BRMS1. (PMID:32853985)
  • Crystal structure and mutational analysis of the human TRIM7 B30.2 domain provide insights into the molecular basis of its binding to glycogenin-1. (PMID:33989636)
  • TRIM7 inhibits enterovirus replication and promotes emergence of a viral variant with increased pathogenicity. (PMID:34062120)
  • Negative Regulation of RNF90 on RNA Virus-Triggered Antiviral Immune Responses Targeting MAVS. (PMID:34512666)
  • TRIM7 suppresses cell invasion and migration through inhibiting HIF-1alpha accumulation in clear cell renal cell carcinoma. (PMID:34936717)
  • A C-terminal glutamine recognition mechanism revealed by E3 ligase TRIM7 structures. (PMID:35982226)
  • GNIP1 functions both as a scaffold protein and an E3 ubiquitin ligase to regulate autophagy in lung cancer. (PMID:36042481)
  • TRIM7 modulates NCOA4-mediated ferritinophagy and ferroptosis in glioblastoma cells. (PMID:36067704)
  • Study on the expression of TRIM7 in peripheral blood mononuclear cells of patients with sepsis and its early diagnostic value. (PMID:36402943)
  • TRIM7 inhibits encephalomyocarditis virus replication by activating interferon-beta signaling pathway. (PMID:37023504)
  • The E3 ligase TRIM7 suppresses the tumorigenesis of gastric cancer by targeting SLC7A11. (PMID:38509147)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusTrim7ENSMUSG00000040350
rattus_norvegicusTrim7ENSRNOG00000002469

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890), TRIM63 (ENSG00000158022)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM7Q9C029 (reviewed: Q9C029)

Alternative names: Glycogenin-interacting protein, RING finger protein 90, Tripartite motif-containing protein 7

All UniProt accessions (1): Q9C029

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that have both tumor-promoting and tumor-suppressing activities and functions in several biological processes including innate immunity, regulation of ferroptosis as well as cell proliferation and migration. Acts as an antiviral effector against multiple viruses by targeting specific viral proteins for ubiquitination and degradation including norovirus NTPase protein or SARS-CoV-2 NSP5 and NSP8 proteins. Mechanistically, recognizes the C-terminal glutamine-containing motif usually generated by viral proteases that process the polyproteins and trigger their ubiquitination and subsequent degradation. Mediates ‘Lys-63’-linked polyubiquitination and stabilization of the JUN coactivator RNF187 in response to growth factor signaling via the MEK/ERK pathway, thereby regulating JUN transactivation and cellular proliferation. Promotes the TLR4-mediated signaling activation through its E3 ligase domain leading to production of pro-inflammatory cytokines and type I interferon. Also plays a negative role in the regulation of exogenous cytosolic DNA virus-triggered immune response. Mechanistically, enhances the ‘Lys-48’-linked ubiquitination of STING1 leading to its proteasome-dependent degradation. Mediates the ubiquitination of the SIN3-HDAC chromatin remodeling complex component BRMS1. Modulates NCOA4-mediated ferritinophagy and ferroptosis in glioblastoma cells by ubiquitinating NCOA4, leading to its degradation. (Microbial infection) Promotes Zika virus replication by mediating envelope protein E ubiquitination.

Subunit / interactions. Forms homodimers. Interacts with GNIP2. Interacts with GYG1. Interacts with RNF187 (via C-terminus).

Subcellular location. Nucleus. Cytoplasm. Golgi apparatus.

Tissue specificity. Skeletal muscle and placenta, at lower levels in heart, brain and pancreas. Isoform 1 is widely expressed with high level in testis, kidney and heart.

Post-translational modifications. Phosphorylated at Ser-107 by RPS6KA5/MSK1, which stimulates the ubiquitin ligase activity. Auto-ubiquitinates via ‘Lys-63’-linked polyubiquitination.

Domain organisation. The B30.2 domain mediates interaction with GYG1. The coiled-coil region mediates homodimerization and heterodimerization.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (4)

UniProt IDNamesCanonical?
Q9C029-21, GNIP1yes
Q9C029-32, GNIP2
Q9C029-43, GNIP3
Q9C029-14, TRIM7

RefSeq proteins (6): NP_203128, NP_976038, NP_976039, NP_976040, NP_976041, NP_976042 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000315Znf_B-boxDomain
IPR001841Znf_RINGDomain
IPR001870B30.2/SPRYDomain
IPR003877SPRY_domDomain
IPR003879Butyrophylin_SPRYDomain
IPR006574PRYDomain
IPR013083Znf_RING/FYVE/PHDHomologous_superfamily
IPR013320ConA-like_dom_sfHomologous_superfamily
IPR017907Znf_RING_CSConserved_site
IPR020457Znf_B-box_chordataDomain
IPR043136B30.2/SPRY_sfHomologous_superfamily
IPR050143TRIM/RBCCFamily

Pfam: PF00622, PF00643, PF13765, PF15227

UniProt features (54 total): strand 19, mutagenesis site 11, splice variant 5, sequence variant 5, binding site 4, turn 3, zinc finger region 2, chain 1, domain 1, coiled-coil region 1, helix 1, modified residue 1

Structure

Experimental structures (PDB)

20 structures.

PDBMethodResolution (Å)
7W0QX-RAY DIFFRACTION1.1
7X70X-RAY DIFFRACTION1.25
7X6YX-RAY DIFFRACTION1.39
7W0SX-RAY DIFFRACTION1.4
7X6ZX-RAY DIFFRACTION1.43
9HINX-RAY DIFFRACTION1.55
7W0TX-RAY DIFFRACTION1.57
6UMAX-RAY DIFFRACTION1.6
8R5BX-RAY DIFFRACTION1.6
8R5CX-RAY DIFFRACTION1.6
8A5LX-RAY DIFFRACTION1.62
7OVXX-RAY DIFFRACTION1.7
7Y3AX-RAY DIFFRACTION1.7
7Y3CX-RAY DIFFRACTION1.71
7Y3BX-RAY DIFFRACTION1.76
6UMBX-RAY DIFFRACTION1.8
8R5DX-RAY DIFFRACTION1.8
7OW2X-RAY DIFFRACTION2.17
8A8XX-RAY DIFFRACTION2.37
8A5MX-RAY DIFFRACTION2.92

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9C029-F186.560.63

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 (4): 130; 133; 152; 158

Post-translational modifications (1): 107

Mutagenesis-validated functional residues (11):

PositionPhenotype
29abolishes ubiquitination and stabilization of rnf187; when associated with a-32.
32abolishes ubiquitination and stabilization of rnf187; when associated with a-29.
57abolishes ubiquitination and stabilization of rnf187.
107abolishes phosphorylation by rps6ka5/msk1. reduced ubiquitination activity towards rnf187.
383complete loss of substrate binding.
385complete loss of substrate binding.
423complete loss of interaction with gyg1.
426complete loss of substrate binding.
436complete loss of substrate binding.
499complete loss of interaction with gyg1.
501complete loss of interaction with gyg1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 118 (showing top): BENPORATH_ES_WITH_H3K27ME3, MODULE_255, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_317, WATANABE_COLON_CANCER_MSI_VS_MSS_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_DEFENSE_RESPONSE_TO_VIRUS, GOBP_RESPONSE_TO_VIRUS, MODULE_69, SANSOM_APC_MYC_TARGETS

GO Biological Process (4): protein ubiquitination (GO:0016567), innate immune response (GO:0045087), antiviral innate immune response (GO:0140374), defense response to virus (GO:0051607)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
intracellular membrane-bounded organelle2
protein modification by small protein conjugation1
immune response1
defense response to symbiont1
innate immune response1
defense response to virus1
defense response1
response to virus1
transition metal ion binding1
ubiquitin-protein transferase activity1
ubiquitin-like protein ligase activity1
binding1
catalytic activity1
cation binding1
intracellular anatomical structure1
cellular anatomical structure1
cytoplasm1
endomembrane system1

Protein interactions and networks

STRING

640 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TRIM7GYG2O15488938
TRIM7GYG1P46976938
TRIM7TRAT1Q6PIZ9830
TRIM7BBOX1O75936748
TRIM7BRMS1Q9HCU9493
TRIM7ARMC12Q5T9G4459
TRIM7INIPQ9NRY2458
TRIM7TRIM46Q7Z4K8431
TRIM7PYURFQ96I23425
TRIM7KLHL40Q2TBA0414
TRIM7BECN1Q14457397
TRIM7BEAN1Q3B7T3395
TRIM7AKTIPQ9H8T0393
TRIM7SLC26A3P40879392
TRIM7TUBGCP4Q9UGJ1387

IntAct

95 interactions, top by confidence:

ABTypeScore
TRIM16TRIM16Lpsi-mi:“MI:0914”(association)0.710
SIAH1TRIM7psi-mi:“MI:0915”(physical association)0.560
TRIM7SIAH1psi-mi:“MI:0915”(physical association)0.560
GTF2A2TRIM7psi-mi:“MI:0915”(physical association)0.560
BCAMTRIM7psi-mi:“MI:0915”(physical association)0.560
AQP1TRIM7psi-mi:“MI:0915”(physical association)0.560
TRIM7CFL2psi-mi:“MI:0915”(physical association)0.560
RNASE1TRIM7psi-mi:“MI:0915”(physical association)0.560
TRIM7MAD2L2psi-mi:“MI:0915”(physical association)0.560
NAA35TRIM7psi-mi:“MI:0915”(physical association)0.560
CRYGCTRIM7psi-mi:“MI:0915”(physical association)0.560
CDK13TRIM7psi-mi:“MI:0915”(physical association)0.560
RAB2ATRIM7psi-mi:“MI:0915”(physical association)0.560
TRMT10ATRIM7psi-mi:“MI:0915”(physical association)0.560
TRIM7RSPH14psi-mi:“MI:0915”(physical association)0.560
OTUD6ATRIM7psi-mi:“MI:0915”(physical association)0.560
NABP1TRIM7psi-mi:“MI:0915”(physical association)0.560
TRIM7IRAK4psi-mi:“MI:0915”(physical association)0.560
TP53I13TRIM7psi-mi:“MI:0915”(physical association)0.560
RIN1TRIM7psi-mi:“MI:0915”(physical association)0.560
TRIM7CTNNAL1psi-mi:“MI:0915”(physical association)0.560
RWDD2BTRIM7psi-mi:“MI:0915”(physical association)0.560
TRIM7psi-mi:“MI:0915”(physical association)0.550
ZNRD2MYO9Apsi-mi:“MI:0914”(association)0.530
HAO2TRIM7psi-mi:“MI:0915”(physical association)0.400
TRIM7HSP90AB1psi-mi:“MI:0915”(physical association)0.400
HSF2TRIM7psi-mi:“MI:0915”(physical association)0.400
TRIM7AARSD1psi-mi:“MI:0915”(physical association)0.400
Rpl35RPS6psi-mi:“MI:0914”(association)0.350

BioGRID (140): TRIM7 (Two-hybrid), TRIM7 (Affinity Capture-MS), TRIM7 (Affinity Capture-MS), TRIM7 (Affinity Capture-MS), TRIM7 (Biochemical Activity), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), TRIM7 (Two-hybrid), RWDD2B (Two-hybrid)

ESM2 similar proteins: A0JN74, A6NCK2, A6NGJ6, A6NI03, B1H278, K7N6K2, O00478, O00481, P14373, P19474, Q13410, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q1XHU0, Q2YEM8, Q2YEM9, Q3ZEE5, Q587N6, Q5C8T6, Q5C8T8, Q5C8U1, Q5D7I9, Q5D7J0, Q5D7J1, Q5NCC9, Q5R996, Q62158, Q6MFZ5, Q7YR33, Q7YRV4, Q80V85, Q8BGE7, Q8NG06, Q923T7, Q96BQ3, Q96F44, Q99PP6, Q99PQ2

Diamond homologs: A0A2P1BRP3, A0A2P1BRQ0, A0JN74, A0ZSK3, A0ZSK4, B1H278, O19085, O95361, P14373, P19474, Q02084, Q1XHU0, Q309B1, Q5R760, Q5R7W8, Q62158, Q62556, Q7KYR7, Q86WT6, Q8N7C3, Q8WVV5, Q91431, Q91453, Q96F44, Q98989, Q98993, Q99PP9, Q99PQ2, Q9C029, Q9HCM9, Q9JLN5, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NK02, A6NLI5, C9J1S8, K7N6K2, O00635

SIGNOR signaling

3 interactions.

AEffectBMechanism
Ub:E2“up-regulates activity”TRIM7ubiquitination
TRIM7“up-regulates quantity by stabilization”RNF187ubiquitination
TRIM7“down-regulates quantity by destabilization”STING1ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance75
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1321 predictions. Top by Δscore:

VariantEffectΔscore
5:181195673:CTCCA:Cacceptor_gain1.0000
5:181195674:TCCA:Tacceptor_gain1.0000
5:181195675:CCA:Cacceptor_gain1.0000
5:181195675:CCAC:Cacceptor_gain1.0000
5:181195676:CA:Cacceptor_gain1.0000
5:181195676:CAC:Cacceptor_gain1.0000
5:181195677:AC:Aacceptor_loss1.0000
5:181195678:C:CCacceptor_gain1.0000
5:181195678:CTGC:Cacceptor_loss1.0000
5:181199091:TCACC:Tdonor_loss1.0000
5:181199092:CACC:Cdonor_loss1.0000
5:181199115:TTC:Tacceptor_gain1.0000
5:181199116:TC:Tacceptor_gain1.0000
5:181199116:TCC:Tacceptor_loss1.0000
5:181199117:CC:Cacceptor_gain1.0000
5:181199118:C:CAacceptor_loss1.0000
5:181199118:C:CCacceptor_gain1.0000
5:181199846:CTTA:Cdonor_loss1.0000
5:181199847:TTA:Tdonor_loss1.0000
5:181199848:TAC:Tdonor_loss1.0000
5:181199849:A:Tdonor_loss1.0000
5:181199850:C:CTdonor_loss1.0000
5:181200088:C:CTacceptor_gain1.0000
5:181200088:C:Tacceptor_gain1.0000
5:181200089:A:Tacceptor_gain1.0000
5:181203561:T:Adonor_gain1.0000
5:181203638:CTC:Cacceptor_gain1.0000
5:181204584:CTCA:Cdonor_loss1.0000
5:181204585:TCAC:Tdonor_loss1.0000
5:181204586:CA:Cdonor_loss1.0000

AlphaMissense

3288 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:181204967:G:CF48L0.999
5:181204967:G:TF48L0.999
5:181204969:A:GF48L0.999
5:181195562:G:CF380L0.998
5:181195562:G:TF380L0.998
5:181195564:A:GF380L0.998
5:181205026:A:GC29R0.998
5:181204970:G:CS47R0.997
5:181204970:G:TS47R0.997
5:181204972:T:GS47R0.997
5:181205017:A:GC32R0.997
5:181205025:C:TC29Y0.997
5:181204666:A:GC149R0.996
5:181204966:A:GC49R0.996
5:181204968:A:GF48S0.996
5:181205024:G:CC29W0.996
5:181195505:C:AW399C0.995
5:181195505:C:GW399C0.995
5:181195507:A:GW399R0.995
5:181195507:A:TW399R0.995
5:181204665:C:TC149Y0.995
5:181204879:A:GC78R0.995
5:181204973:G:CH46Q0.995
5:181204973:G:TH46Q0.995
5:181204995:G:TP39Q0.995
5:181205015:G:CC32W0.995
5:181205016:C:TC32Y0.995
5:181204965:C:TC49Y0.994
5:181204968:A:CF48C0.994
5:181205004:A:GF36S0.994

dbSNP variants (sampled 300 via entrez): RS1000065934 (5:181205706 A>G), RS1000549430 (5:181199910 A>T), RS1000769245 (5:181196057 T>C), RS1000955777 (5:181204295 G>A,C), RS1000956790 (5:181201175 C>G,T), RS1000965731 (5:181206744 C>A,G), RS1001123089 (5:181204478 C>T), RS1001442794 (5:181198464 C>G), RS1001844996 (5:181202865 C>G,T), RS1001887403 (5:181197134 C>T), RS1002002173 (5:181203231 A>T), RS1002107238 (5:181197088 G>A), RS1002143576 (5:181203748 G>A,C,T), RS1002607239 (5:181206934 T>C), RS1002744943 (5:181204774 G>C)

Disease associations

OMIM: gene MIM:609315 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, affects expression3
Benzo(a)pyrenedecreases expression, decreases methylation, affects methylation2
Cadmium Chloridedecreases expression2
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
sodium arsenitedecreases expression1
entinostatincreases expression1
abrinedecreases expression1
NSC 689534affects binding, decreases expression1
Air Pollutantsdecreases expression, increases abundance1
Carcinogensdecreases expression1
Copperdecreases expression, affects binding1
Hydrogen Peroxideaffects expression1
Mutagensdecreases expression1
Silicon Dioxideincreases expression1
Smokedecreases expression1
Tetradecanoylphorbol Acetatedecreases reaction, increases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Aflatoxin B1decreases methylation1
Particulate Matterincreases abundance, decreases expression1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

CellosaurusNameCategorySex
CVCL_B2JQAbcam HeLa TRIM7 KOCancer cell lineFemale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.