TRIM68

Summary

TRIM68 (tripartite motif containing 68, HGNC:21161) is a protein-coding gene on chromosome 11p15.4, encoding E3 ubiquitin-protein ligase TRIM68 (Q6AZZ1). Functions as a ubiquitin E3 ligase.

This gene encodes a member of the tripartite motif-containing protein family, whose members are characterized by a “really interesting new gene” (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55128 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_018073

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21161
Approved symbol	TRIM68
Name	tripartite motif containing 68
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	SS-56, FLJ10369
Ensembl gene	ENSG00000167333
Ensembl biotype	protein_coding
OMIM	613184
Entrez	55128

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000300747, ENST00000526337, ENST00000531101, ENST00000531644, ENST00000531717, ENST00000532108, ENST00000533021, ENST00000855529, ENST00000855530, ENST00000855531, ENST00000969695

RefSeq mRNA: 2 — MANE Select: NM_018073 NM_001304496, NM_018073

CCDS: CCDS31356

Canonical transcript exons

ENST00000300747 — 7 exons

Exon	Start	End
ENSE00001112146	4598672	4600826
ENSE00001333919	4608027	4608231
ENSE00003483532	4605079	4605561
ENSE00003538677	4602152	4602412
ENSE00003550274	4603245	4603340
ENSE00003579335	4601664	4601686
ENSE00003651125	4601027	4601127

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 87.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.7344 / max 66.4794, expressed in 1653 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118331	4.2132	1630
118330	0.5211	284

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	87.36	gold quality
epithelium of bronchus	UBERON:0002031	85.39	gold quality
bronchial epithelial cell	CL:0002328	85.03	gold quality
bronchus	UBERON:0002185	84.88	gold quality
prostate gland	UBERON:0002367	84.83	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.22	gold quality
right lobe of thyroid gland	UBERON:0001119	83.82	gold quality
renal glomerulus	UBERON:0000074	83.72	gold quality
metanephric glomerulus	UBERON:0004736	83.69	gold quality
parietal pleura	UBERON:0002400	83.56	gold quality
thyroid gland	UBERON:0002046	82.88	gold quality
left lobe of thyroid gland	UBERON:0001120	82.87	gold quality
metanephros	UBERON:0000081	82.76	gold quality
ovary	UBERON:0000992	82.44	gold quality
left ovary	UBERON:0002119	82.43	gold quality
metanephros cortex	UBERON:0010533	82.31	gold quality
pleura	UBERON:0000977	82.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.21	gold quality
endocervix	UBERON:0000458	82.12	gold quality
visceral pleura	UBERON:0002401	82.04	gold quality
nasal cavity epithelium	UBERON:0005384	81.99	silver quality
secondary oocyte	CL:0000655	81.71	gold quality
body of stomach	UBERON:0001161	81.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.99	gold quality
cortex of kidney	UBERON:0001225	80.86	gold quality
right ovary	UBERON:0002118	80.86	gold quality
mucosa of transverse colon	UBERON:0004991	80.85	gold quality
apex of heart	UBERON:0002098	80.75	gold quality
cerebellar hemisphere	UBERON:0002245	80.58	gold quality
germinal epithelium of ovary	UBERON:0001304	80.52	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

miRNA regulators (miRDB)

36 targeting TRIM68, 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-574-5P	100.00	66.01	989
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-1224-5P	99.48	65.59	803
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-6764-3P	98.44	67.64	1153
HSA-MIR-6824-3P	98.44	67.62	1154
HSA-MIR-5196-3P	97.57	65.98	979
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-4771	97.43	67.69	596

Literature-anchored findings (GeneRIF, showing 3)

• TRIM68 functions as a cofactor for AR-mediated transcription and is likely to be a novel diagnostic tool and a potentially therapeutic target for prostate cancer. (PMID:18451177)
• TRIM68 targets TFG, a novel regulator of IFN production, and in doing so turns off and limits type I IFN production in response to anti-viral detection systems (PMID:24999993)
• Tripartite motif-containing 68-stabilized modulator of apoptosis-1 retards the proliferation and metastasis of lung cancer. (PMID:36724555)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Trim68	ENSMUSG00000073968
rattus_norvegicus	Trim68	ENSRNOG00000047229

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), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM68 — Q6AZZ1 (reviewed: Q6AZZ1)

Alternative names: RING finger protein 137, RING-type E3 ubiquitin transferase TRIM68, SSA protein SS-56, Tripartite motif-containing protein 68

All UniProt accessions (4): Q6AZZ1, E9PJJ9, E9PP83, E9PR29

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity.

Subunit / interactions. Interacts with AR/androgen receptor (via ligand-binding domain). Interacts with KAT5/TIP60.

Subcellular location. Cytoplasm. Perinuclear region. Nucleus.

Tissue specificity. Widely expressed. Expressed at high levels in prostate cancer cell lines. Up-regulation could be restricted to androgen-dependent cells.

Post-translational modifications. Auto-ubiquitinated.

Domain organisation. The RING domain is essential for ubiquitin E3 ligase activity.

Induction. Up-regulated in prostate cancer.

Pathway. Protein modification; protein ubiquitination.

Miscellaneous. Antibodies against TRIM68 are found in patients with systemic lupus erythematosus (SLE) and primary Sjoegren syndrome.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6AZZ1-1	1	yes
Q6AZZ1-2	2

RefSeq proteins (2): NP_001291425, NP_060543* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR006574	PRY	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR042656	TRIM68_RING-HC	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF00643, PF13765, PF15227

UniProt features (24 total): sequence conflict 10, binding site 4, sequence variant 3, splice variant 2, zinc finger region 2, chain 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6AZZ1-F1	88.24	0.59

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): 98; 101; 120; 126

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling

MSigDB gene sets: 94 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, AAAYRNCTG_UNKNOWN, GOBP_REGULATION_OF_ANDROGEN_RECEPTOR_SIGNALING_PATHWAY, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_RESPONSE_TO_STEROID_HORMONE, GOBP_RESPONSE_TO_HORMONE, GOBP_RESPONSE_TO_LIPID

GO Biological Process (5): regulation of gene expression (GO:0010468), innate immune response (GO:0045087), protein autoubiquitination (GO:0051865), regulation of androgen receptor signaling pathway (GO:0060765), protein ubiquitination (GO:0016567)

GO Molecular Function (9): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), histone acetyltransferase binding (GO:0035035), identical protein binding (GO:0042802), nuclear androgen receptor binding (GO:0050681), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interferon Signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
intracellular membrane-bounded organelle	2
nuclear lumen	2
gene expression	1
regulation of macromolecule biosynthetic process	1
immune response	1
defense response to symbiont	1
protein ubiquitination	1
androgen receptor signaling pathway	1
regulation of intracellular steroid hormone receptor signaling pathway	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
enzyme binding	1
protein binding	1
nuclear receptor binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
endomembrane system	1

Protein interactions and networks

STRING

658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM68	TRIM9	Q9C026	563
TRIM68	EP300	Q09472	558
TRIM68	KLK3	P07288	541
TRIM68	TANK	Q92844	511
TRIM68	ZNF780A	O75290	511
TRIM68	TRAT1	Q6PIZ9	506
TRIM68	AR	P10275	477
TRIM68	TRIM66	O15016	463
TRIM68	KAT5	Q92993	463
TRIM68	TRIM23	P36406	453
TRIM68	UTP20	O75691	416
TRIM68	NTRK1	P04629	402
TRIM68	GRB7	Q14451	393
TRIM68	NR3C1	P04150	389
TRIM68	TRIM29	Q14134	372

IntAct

151 interactions, top by confidence:

A	B	Type	Score
GRAP2	STAMBP	psi-mi:“MI:0914”(association)	0.810
HOXA9	TRIP6	psi-mi:“MI:0914”(association)	0.750
CNOT3	CNOT1	psi-mi:“MI:0914”(association)	0.740
IFI30	DAPK1	psi-mi:“MI:0914”(association)	0.730
C1orf105	TRIM68	psi-mi:“MI:0914”(association)	0.560
NTF4	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
PRSS48	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
MMP28	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
AUNIP	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
TRIM68	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
TRIM68	LZTFL1	psi-mi:“MI:0915”(physical association)	0.560
TCF4	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
TRIM68	DISC1	psi-mi:“MI:0915”(physical association)	0.560
REL	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
TRIM68	LNX1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP13-2	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
KRTAP13-3	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
INCA1	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
ZBTB42	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
POLR2G	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
TRIM68	NUDT16L1	psi-mi:“MI:0915”(physical association)	0.560
TRIM68	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
AUNIP	TRIM68	psi-mi:“MI:0914”(association)	0.560
MMP28	TRIM68	psi-mi:“MI:0914”(association)	0.560
C1orf105	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
BTN3A3	BTN3A1	psi-mi:“MI:0914”(association)	0.560
IGLL5	IGLC7	psi-mi:“MI:0914”(association)	0.530

BioGRID (148): TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JMD5, A0A0J9YX57, A2A368, A2A9R3, A6NCF6, A6NK02, A8MXT2, D9I2F9, D9I2G3, D9I2H0, O15479, O15480, O15481, O60809, O95521, P14373, P25233, P43355, P43356, P43357, P43358, P43360, P43361, P43362, P43363, P43364, P43365, P43366, Q2LKU9, Q2LKW6, Q4R998, Q5PPP4, Q5SWL7, Q62191, Q6AY37, Q6AZZ1, Q8BQR7, Q8BVP1, Q8K243, Q8N7X4

Diamond homologs: A0JN74, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NK02, A6NLI5, B1H278, C9J1S8, K7N6K2, O00635, O15553, O19085, O77666, P0CI25, P0CI26, P14373, P15533, P18892, P19474, Q02084, Q0PF16, Q12899, Q13410, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q1XHU0, Q2T9Z0, Q2YEM8, Q2YEM9, Q2YEN0, Q2YEN2, Q3UWZ0, Q3ZEE5, Q495X7, Q587N6, Q587N7, Q58DK8

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM68	ubiquitination
TRIM68	“down-regulates quantity by destabilization”	TFG	ubiquitination
TRIM68	“down-regulates quantity”	TFG	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1231 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4600823:TCAG:T	acceptor_gain	1.0000
11:4600824:CAG:C	acceptor_gain	1.0000
11:4600824:CAGC:C	acceptor_gain	1.0000
11:4600825:A:T	acceptor_gain	1.0000
11:4600825:AG:A	acceptor_gain	1.0000
11:4600827:C:CC	acceptor_gain	1.0000
11:4600827:CTAG:C	acceptor_loss	1.0000
11:4600828:T:C	acceptor_loss	1.0000
11:4601232:A:T	acceptor_gain	1.0000
11:4602147:CTCA:C	donor_loss	1.0000
11:4602408:TGTAT:T	acceptor_gain	1.0000
11:4602409:GTAT:G	acceptor_gain	1.0000
11:4602410:TAT:T	acceptor_gain	1.0000
11:4602413:C:CC	acceptor_gain	1.0000
11:4602414:T:A	acceptor_loss	1.0000
11:4602422:C:CT	acceptor_gain	1.0000
11:4603247:T:TA	donor_gain	1.0000
11:4603265:T:TA	donor_gain	1.0000
11:4603337:CCCA:C	acceptor_gain	1.0000
11:4603338:CCAC:C	acceptor_gain	1.0000
11:4603341:C:CC	acceptor_gain	1.0000
11:4605073:TCTCA:T	donor_loss	1.0000
11:4605074:CTCA:C	donor_loss	1.0000
11:4605075:TCA:T	donor_loss	1.0000
11:4605076:CACC:C	donor_loss	1.0000
11:4605078:C:A	donor_loss	1.0000
11:4608025:ACC:A	donor_loss	1.0000
11:4608025:ACCTC:A	donor_gain	1.0000
11:4608026:CCTCC:C	donor_gain	1.0000
11:4608029:C:A	donor_gain	1.0000

AlphaMissense

3182 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4600711:A:C	F341L	0.998
11:4600711:A:T	F341L	0.998
11:4600713:A:G	F341L	0.998
11:4600626:A:G	W370R	0.997
11:4600626:A:T	W370R	0.997
11:4600616:C:T	G373E	0.995
11:4600656:A:G	W360R	0.995
11:4600656:A:T	W360R	0.995
11:4600694:A:T	V347D	0.995
11:4600555:G:C	F393L	0.994
11:4600555:G:T	F393L	0.994
11:4600557:A:G	F393L	0.994
11:4600814:A:G	L307S	0.994
11:4600345:A:C	S463R	0.993
11:4600345:A:T	S463R	0.993
11:4600347:T:G	S463R	0.993
11:4600426:G:C	F436L	0.993
11:4600426:G:T	F436L	0.993
11:4600428:A:G	F436L	0.993
11:4600624:C:A	W370C	0.993
11:4600624:C:G	W370C	0.993
11:4600654:C:A	W360C	0.993
11:4600654:C:G	W360C	0.993
11:4600387:G:C	F449L	0.992
11:4600387:G:T	F449L	0.992
11:4600389:A:G	F449L	0.992
11:4600609:A:C	C375W	0.992
11:4600349:A:G	F462S	0.991
11:4600427:A:G	F436S	0.991
11:4600617:C:G	G373R	0.991

dbSNP variants (sampled 300 via entrez): RS1000168651 (11:4598237 T>C), RS1000449222 (11:4603710 T>A,C), RS1000800529 (11:4603434 C>A,G,T), RS1000804845 (11:4605993 T>C), RS1000873734 (11:4607776 C>G), RS1000908663 (11:4607870 G>T), RS1000960652 (11:4608074 A>C,G), RS1001475593 (11:4608593 G>A), RS1001645869 (11:4608267 C>A,T), RS1001698297 (11:4608444 G>T), RS1001971983 (11:4603103 G>A), RS1002249509 (11:4602561 C>T), RS1002564955 (11:4601759 G>A), RS1002577357 (11:4608891 G>GA), RS1002642375 (11:4607210 C>G)

Disease associations

OMIM: gene MIM:613184 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004542_2	Mean corpuscular hemoglobin	2.000000e-15
GCST004543_1	Mean corpuscular hemoglobin concentration	8.000000e-33
GCST004544_1	Mean corpuscular volume	2.000000e-45
GCST004546_1	Red blood cell count	9.000000e-10
GCST004553_1	White blood cell count	1.000000e-10
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TU51	HAP1 TRIM68 (-) 1	Cancer cell line	Male
CVCL_TU52	HAP1 TRIM68 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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