HERC4

Summary

HERC4 (HECT and RLD domain containing E3 ubiquitin protein ligase 4, HGNC:24521) is a protein-coding gene on chromosome 10q21.3, encoding Probable E3 ubiquitin-protein ligase HERC4 (Q5GLZ8). Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures.

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).

Source: NCBI Gene 26091 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 100 total — 1 likely-pathogenic
• MANE Select transcript: NM_015601

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24521
Approved symbol	HERC4
Name	HECT and RLD domain containing E3 ubiquitin protein ligase 4
Location	10q21.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP564G092, KIAA1593
Ensembl gene	ENSG00000148634
Ensembl biotype	protein_coding
OMIM	609248
Entrez	26091

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 35 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000277817, ENST00000373700, ENST00000395185, ENST00000395198, ENST00000412272, ENST00000427635, ENST00000460168, ENST00000463478, ENST00000473533, ENST00000480158, ENST00000492996, ENST00000505760, ENST00000506515, ENST00000513996, ENST00000515753, ENST00000868735, ENST00000868736, ENST00000868737, ENST00000868738, ENST00000868739, ENST00000868740, ENST00000868741, ENST00000868742, ENST00000868743, ENST00000868744, ENST00000930767, ENST00000930768, ENST00000930769, ENST00000930770, ENST00000930771, ENST00000930772, ENST00000946404, ENST00000946405, ENST00000946406, ENST00000946407, ENST00000946408, ENST00000946409, ENST00000946410, ENST00000946411, ENST00000946412, ENST00000946413, ENST00000946414, ENST00000946415

RefSeq mRNA: 5 — MANE Select: NM_015601 NM_001278185, NM_001278186, NM_001278187, NM_015601, NM_022079

CCDS: CCDS41533, CCDS60541, CCDS60542, CCDS7274

Canonical transcript exons

ENST00000373700 — 25 exons

Exon	Start	End
ENSE00001287219	68044404	68044563
ENSE00001338871	68073657	68073686
ENSE00001875254	67921905	67923139
ENSE00001902646	68075144	68075283
ENSE00003463902	68014026	68014186
ENSE00003476617	68038093	68038169
ENSE00003509398	68025546	68025676
ENSE00003510181	67966683	67966802
ENSE00003512246	68072883	68073186
ENSE00003516244	67990211	67990400
ENSE00003542026	67925085	67925187
ENSE00003546911	67992606	67992682
ENSE00003547672	67939588	67939654
ENSE00003554431	67990904	67991015
ENSE00003561433	68033965	68034186
ENSE00003564667	68032778	68032869
ENSE00003568092	67954963	67955130
ENSE00003591886	67954595	67954738
ENSE00003613864	67992199	67992323
ENSE00003624191	67936153	67936235
ENSE00003632404	67988663	67988835
ENSE00003635928	67956878	67956976
ENSE00003645898	67932597	67932780
ENSE00003660279	67940939	67941105
ENSE00003686478	67991140	67991199

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 97.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.6346 / max 864.2320, expressed in 1819 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
109738	16.6268	1804
109736	10.4610	1773
109737	5.2680	1697
109732	0.8488	346
109733	0.3504	169
109731	0.0797	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	97.08	gold quality
calcaneal tendon	UBERON:0003701	96.67	gold quality
jejunal mucosa	UBERON:0000399	95.47	gold quality
colonic epithelium	UBERON:0000397	94.21	gold quality
monocyte	CL:0000576	93.89	gold quality
sperm	CL:0000019	93.84	gold quality
mononuclear cell	CL:0000842	93.63	gold quality
tendon	UBERON:0000043	93.31	gold quality
leukocyte	CL:0000738	93.24	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.22	gold quality
tonsil	UBERON:0002372	92.66	gold quality
colonic mucosa	UBERON:0000317	92.61	gold quality
stromal cell of endometrium	CL:0002255	92.50	gold quality
epithelium of nasopharynx	UBERON:0001951	92.16	gold quality
nasopharynx	UBERON:0001728	92.14	gold quality
jejunum	UBERON:0002115	91.99	gold quality
corpus callosum	UBERON:0002336	91.98	gold quality
secondary oocyte	CL:0000655	91.79	gold quality
seminal vesicle	UBERON:0000998	91.79	gold quality
corpus epididymis	UBERON:0004359	91.76	gold quality
germinal epithelium of ovary	UBERON:0001304	91.64	gold quality
endometrium	UBERON:0001295	91.44	gold quality
rectum	UBERON:0001052	91.42	gold quality
left adrenal gland cortex	UBERON:0035825	91.42	gold quality
right adrenal gland cortex	UBERON:0035827	91.42	gold quality
right adrenal gland	UBERON:0001233	91.38	gold quality
adrenal cortex	UBERON:0001235	91.27	gold quality
adrenal gland	UBERON:0002369	91.21	gold quality
lymph node	UBERON:0000029	91.18	gold quality
left adrenal gland	UBERON:0001234	91.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6379	no	228.10
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

65 targeting HERC4, 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-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524

Literature-anchored findings (GeneRIF, showing 8)

• HERC4 ancestor emerged in nematodes and that the family expanded throughout evolution. The mRNA expression pattern of the HERC4 was found to be diverse in selected tissues and cells (PMID:15676274)
• High HERC4 expression is associated with lung cancer. (PMID:25684480)
• HERC4 has an effect on the occurrence and development of hepatoma carcinoma (PMID:28430527)
• the SIRT1/HERC4 locus on chromosome 10 was identified to be associated with intravenous (iv) bisphosphonates induced Osteonecrosis of the Jaw. (PMID:28856724)
• The authors findings demonstrate that HERC4 is important for promoting tumorigenesis. (PMID:30710319)
• HERC4 is downregulated in NSCLC samples; HERC4 interacts with Smo reciprocally in NSCLC cells; knockdown of herc4 activates Hh pathway and promotes NSCLC cell proliferation. Taken together, our studies have demonstrated that HERC4 acts as a tumor suppressor via destabilizing the oncoprotein Smo (PMID:31010679)
• The ubiquitin ligase HERC4 suppresses MafA transcriptional activity triggered by GSK3beta in myeloma by atypical K63-linked polyubiquitination. (PMID:37028761)
• HERC4 modulates ovarian cancer cell proliferation by regulating SMO-elicited hedgehog signaling. (PMID:38181892)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	herc4	ENSDARG00000059936
mus_musculus	Herc4	ENSMUSG00000020064
rattus_norvegicus	Herc4	ENSRNOG00000061040

Paralogs (24): HECW1 (ENSG00000002746), UBE3C (ENSG00000009335), NEDD4L (ENSG00000049759), NEDD4 (ENSG00000069869), ITCH (ENSG00000078747), HACE1 (ENSG00000085382), HUWE1 (ENSG00000086758), HECTD1 (ENSG00000092148), UBR5 (ENSG00000104517), SMURF2 (ENSG00000108854), UBE3A (ENSG00000114062), AREL1 (ENSG00000119682), WWP1 (ENSG00000123124), HERC2 (ENSG00000128731), HECW2 (ENSG00000138411), HERC3 (ENSG00000138641), HERC6 (ENSG00000138642), HERC5 (ENSG00000138646), UBE3B (ENSG00000151148), TRIP12 (ENSG00000153827), HECTD2 (ENSG00000165338), HECTD4 (ENSG00000173064), WWP2 (ENSG00000198373), SMURF1 (ENSG00000198742)

Protein

Protein identifiers

Probable E3 ubiquitin-protein ligase HERC4 — Q5GLZ8 (reviewed: Q5GLZ8)

Alternative names: HECT domain and RCC1-like domain-containing protein 4, HECT-type E3 ubiquitin transferase HERC4

All UniProt accessions (4): Q5GLZ8, D6RCL5, D6RFK9, H0Y6K7

UniProt curated annotations — full annotation on UniProt →

Function. Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Expressed in brain and testis and detected in heart and placenta.

Pathway. Protein modification; protein ubiquitination.

Isoforms (6)

UniProt ID	Names	Canonical?
Q5GLZ8-1	1	yes
Q5GLZ8-2	2
Q5GLZ8-3	3
Q5GLZ8-4	4
Q5GLZ8-5	5, 2
Q5GLZ8-6	6

RefSeq proteins (5): NP_001265114, NP_001265115, NP_001265116, NP_056416, NP_071362 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000408	Reg_chr_condens	Repeat
IPR000569	HECT_dom	Domain
IPR009091	RCC1/BLIP-II	Homologous_superfamily
IPR035983	Hect_E3_ubiquitin_ligase	Homologous_superfamily
IPR051709	Ub-ligase/GTPase-reg	Family
IPR058923	RCC1-like_dom	Domain

Pfam: PF00632, PF25390

UniProt features (19 total): splice variant 8, repeat 7, chain 1, sequence conflict 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5GLZ8-F1	91.72	0.71

Functional residue map

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

Catalytic / active sites (1): 1025 (glycyl thioester intermediate)

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 193 (showing top): RNGTGGGC_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TGCGCANK_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, MAZ_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, chr10q21, GOBP_MALE_GAMETE_GENERATION, NAGASHIMA_NRG1_SIGNALING_UP

GO Biological Process (5): ubiquitin-dependent protein catabolic process (GO:0006511), spermatogenesis (GO:0007283), protein ubiquitination (GO:0016567), cell differentiation (GO:0030154), negative regulation of smoothened signaling pathway (GO:0045879)

GO Molecular Function (3): ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), transferase activity (GO:0016740)

GO Cellular Component (3): fibrillar center (GO:0001650), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein ubiquitination	1
modification-dependent protein catabolic process	1
developmental process involved in reproduction	1
male gamete generation	1
protein modification by small protein conjugation	1
cellular developmental process	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
negative regulation of signal transduction	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
catalytic activity	1
nucleolus	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1006 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HERC4	RABIF	P47224	543
HERC4	MYPN	Q86TC9	510
HERC4	UBE2O	Q9C0C9	457
HERC4	PIGY	Q3MUY2	438
HERC4	FAM13A	O94988	396
HERC4	MX1	P20591	390
HERC4	PPIL2	Q13356	388
HERC4	RTP3	Q9BQQ7	387
HERC4	RCC1L	Q96I51	385
HERC4	DNAJC12	Q9UKB3	384
HERC4	TRIM5	Q9C035	376
HERC4	IPO11	Q9UI26	375
HERC4	TRIM22	Q8IYM9	372
HERC4	C6orf141	Q5SZD1	358
HERC4	SPX	Q9BT56	353
HERC4	PDE6D	O43924	353

IntAct

31 interactions, top by confidence:

A	B	Type	Score
RCCD1	SPAG9	psi-mi:“MI:0914”(association)	0.640
TSPYL6	USP12	psi-mi:“MI:0914”(association)	0.640
C1orf94	USO1	psi-mi:“MI:0914”(association)	0.550
ALOXE3	HSPA8	psi-mi:“MI:0914”(association)	0.530
GNB2	PFDN6	psi-mi:“MI:0914”(association)	0.530
ABHD15	HSPA8	psi-mi:“MI:0914”(association)	0.530
FDXACB1	HERC4	psi-mi:“MI:0915”(physical association)	0.400
HSP90AB1	HERC4	psi-mi:“MI:0915”(physical association)	0.400
TRADD	HNRNPCL2	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ANKRD39	UBA6	psi-mi:“MI:0914”(association)	0.350
PRKY	METTL15	psi-mi:“MI:0914”(association)	0.350
WRAP73	SDCBP	psi-mi:“MI:0914”(association)	0.350
APOBEC3DE	CASC3	psi-mi:“MI:0914”(association)	0.350
KLHL10	BCL2L11	psi-mi:“MI:0914”(association)	0.350
FLII	STRN	psi-mi:“MI:0914”(association)	0.350
PLD2	DNAJB5	psi-mi:“MI:0914”(association)	0.350
WDR72	DNAJB5	psi-mi:“MI:0914”(association)	0.350
ZNF215	UBB	psi-mi:“MI:0914”(association)	0.350
MOCS3	HSPA8	psi-mi:“MI:0914”(association)	0.350
CARD16	CASP1	psi-mi:“MI:0914”(association)	0.350
NLRX1	BSG	psi-mi:“MI:0914”(association)	0.350
ARSH	HERC4	psi-mi:“MI:0914”(association)	0.350
INF2	PIPSL	psi-mi:“MI:0914”(association)	0.350
C1orf94	HSPD1	psi-mi:“MI:0914”(association)	0.350
LRRC27	SNRNP200	psi-mi:“MI:0914”(association)	0.350
TKTL2	HSPA8	psi-mi:“MI:0914”(association)	0.350
TSSK1B	HERC4	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (100): HERC4 (Affinity Capture-RNA), HERC4 (Affinity Capture-RNA), HERC4 (Affinity Capture-RNA), HERC4 (Co-fractionation), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Affinity Capture-MS), HERC4 (Biochemical Activity)

ESM2 similar proteins: A0A0G2K344, A0JM23, D3ZBM7, E1C656, F1M386, F1N6G5, F1PBJ0, F8W2M1, O02697, O08759, O14830, O35385, P0CI65, P32871, P42336, P42337, P42338, P48736, Q05086, Q15034, Q28BK1, Q3U0D9, Q3UMR0, Q5GLZ8, Q5PQN1, Q5RD78, Q5REW9, Q5U5R9, Q6AZT7, Q6DCL5, Q6PAV2, Q7TNH6, Q7Z494, Q8BTI9, Q8CDU6, Q8CHG5, Q8CHG7, Q8IVU3, Q8IYU2, Q8K4M9

Diamond homologs: A0A8C0NGY6, A1CQG2, A1D3C5, A2A5Z6, A2QQ28, A9JRZ0, B0XQ72, B8N7E5, D3ZBM7, D6C652, E1B7Q7, E1C656, F1LP64, F1N6G5, F8W2M1, G0S9J5, G5E870, H2LBU8, O00308, O08759, O13834, O14326, O15033, P39940, P40985, P46934, P46935, P46937, P46938, P51593, P53119, Q03280, Q05086, Q08CZ0, Q09291, Q0CCL1, Q14669, Q15034, Q15386, Q1K9C4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	HERC4	ubiquitination
HERC4	“down-regulates quantity by destabilization”	SMO	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 49 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	5	12.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	70
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	Likely pathogenic

SpliceAI

5547 predictions. Top by Δscore:

Variant	Effect	Δscore
10:67925077:ATACT:A	donor_loss	1.0000
10:67925078:TACTT:T	donor_loss	1.0000
10:67925079:ACTTA:A	donor_loss	1.0000
10:67925080:CTTA:C	donor_loss	1.0000
10:67925082:T:TC	donor_loss	1.0000
10:67925083:A:AC	donor_gain	1.0000
10:67925084:C:CT	donor_gain	1.0000
10:67925084:CA:C	donor_gain	1.0000
10:67925084:CACA:C	donor_gain	1.0000
10:67925084:CACAG:C	donor_gain	1.0000
10:67925183:GTATT:G	acceptor_gain	1.0000
10:67925186:TT:T	acceptor_gain	1.0000
10:67925188:C:CC	acceptor_gain	1.0000
10:67932591:CCCTA:C	donor_loss	1.0000
10:67932592:CCTAC:C	donor_loss	1.0000
10:67932593:CTA:C	donor_loss	1.0000
10:67932594:TACCT:T	donor_loss	1.0000
10:67932596:C:CT	donor_loss	1.0000
10:67932776:CTTGC:C	acceptor_gain	1.0000
10:67932781:C:CC	acceptor_gain	1.0000
10:67932781:CT:C	acceptor_loss	1.0000
10:67932782:T:A	acceptor_loss	1.0000
10:67932787:A:AC	acceptor_gain	1.0000
10:67932787:A:C	acceptor_gain	1.0000
10:67936151:A:AC	donor_gain	1.0000
10:67936152:C:CC	donor_gain	1.0000
10:67939571:ATGT:A	donor_gain	1.0000
10:67954959:TTACC:T	donor_loss	1.0000
10:67954960:TAC:T	donor_loss	1.0000
10:67954961:ACCTT:A	donor_loss	1.0000

AlphaMissense

6920 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:67923013:A:G	L1031P	1.000
10:67923118:C:G	R996P	1.000
10:67932649:A:G	L937P	1.000
10:67941071:C:T	G799D	1.000
10:67956895:C:G	A678P	1.000
10:67956917:T:A	K670N	1.000
10:67956917:T:G	K670N	1.000
10:68014136:C:T	G320E	1.000
10:68014137:C:A	G320W	1.000
10:68025630:C:T	G275D	1.000
10:68025654:C:T	G267E	1.000
10:68034010:A:G	W214R	1.000
10:68034010:A:T	W214R	1.000
10:68044468:A:G	W108R	1.000
10:68044468:A:T	W108R	1.000
10:68072933:C:T	G59E	1.000
10:68073095:C:T	G5E	1.000
10:68073096:C:G	G5R	1.000
10:68073096:C:T	G5R	1.000
10:67922943:G:C	F1054L	0.999
10:67922943:G:T	F1054L	0.999
10:67922945:A:G	F1054L	0.999
10:67922974:A:G	L1044P	0.999
10:67923019:A:G	L1029P	0.999
10:67923022:A:G	L1028P	0.999
10:67923030:A:C	C1025W	0.999
10:67923031:C:T	C1025Y	0.999
10:67923032:A:G	C1025R	0.999
10:67923046:G:T	P1020Q	0.999
10:67925087:A:G	L988P	0.999

dbSNP variants (sampled 300 via entrez): RS1000002975 (10:68069441 G>A,C), RS1000025051 (10:68072236 A>G), RS1000027469 (10:68071379 A>G), RS1000046380 (10:67948677 T>C), RS1000057699 (10:68072003 A>G), RS1000070371 (10:68056597 T>C), RS1000077609 (10:67960144 C>A), RS1000088964 (10:68049103 C>T), RS1000101190 (10:68056395 T>A), RS1000113214 (10:67931235 C>T), RS1000127668 (10:67973175 C>T), RS1000162132 (10:67984730 G>A), RS1000171846 (10:68074144 A>G), RS1000181088 (10:68028996 C>T), RS1000187857 (10:68032525 A>C)

Disease associations

OMIM: gene MIM:609248 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004904_160	Body mass index	2.000000e-08
GCST90000025_435	Appendicular lean mass	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment, affects expression, increases abundance	4
Formaldehyde	increases expression	2
bisphenol F	increases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	increases expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
testosterone undecanoate	decreases expression	1
trichostatin A	increases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
jinfukang	decreases expression	1
PCI 5002	increases expression, affects cotreatment	1
Dasatinib	decreases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Biotin	increases expression	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1TJ	Abcam HeLa HERC4 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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