UBL4A

Summary

UBL4A (ubiquitin like 4A, HGNC:12505) is a protein-coding gene on chromosome Xq28, encoding Ubiquitin-like protein 4A (P11441). As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to….

Enables protein-folding chaperone binding activity. Involved in establishment of protein localization to membrane; regulation of protein stability; and ubiquitin-dependent protein catabolic process. Located in cytosol; membrane; and nucleoplasm. Part of BAT3 complex.

Source: NCBI Gene 8266 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 36 total — 1 pathogenic
• MANE Select transcript: NM_014235

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12505
Approved symbol	UBL4A
Name	ubiquitin like 4A
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	GDX, DXS254E, GET5, MDY2, TMA24
Ensembl gene	ENSG00000102178
Ensembl biotype	protein_coding
OMIM	312070
Entrez	8266

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000369653, ENST00000369660, ENST00000417913, ENST00000421431, ENST00000477777, ENST00000481237, ENST00000630530

RefSeq mRNA: 1 — MANE Select: NM_014235 NM_014235

CCDS: CCDS14754

Canonical transcript exons

ENST00000369660 — 4 exons

Exon	Start	End
ENSE00000678584	154486228	154486333
ENSE00001450568	154483717	154485649
ENSE00001945277	154486537	154486615
ENSE00003600666	154485771	154485979

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 95.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.7768 / max 162.4997, expressed in 1787 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
201033	16.8590	1785
201034	0.5070	271
201035	0.4108	198

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	95.24	gold quality
apex of heart	UBERON:0002098	95.08	gold quality
gastrocnemius	UBERON:0001388	93.84	gold quality
muscle of leg	UBERON:0001383	93.52	gold quality
heart left ventricle	UBERON:0002084	92.45	gold quality
right frontal lobe	UBERON:0002810	92.29	gold quality
cardiac ventricle	UBERON:0002082	92.17	gold quality
muscle organ	UBERON:0001630	91.97	gold quality
granulocyte	CL:0000094	91.59	gold quality
right atrium auricular region	UBERON:0006631	91.46	gold quality
body of pancreas	UBERON:0001150	91.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.11	gold quality
cardiac atrium	UBERON:0002081	90.84	gold quality
heart	UBERON:0000948	90.75	gold quality
prefrontal cortex	UBERON:0000451	90.64	gold quality
left adrenal gland cortex	UBERON:0035825	90.40	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.32	gold quality
monocyte	CL:0000576	90.21	gold quality
right adrenal gland	UBERON:0001233	90.04	gold quality
left adrenal gland	UBERON:0001234	90.04	gold quality
leukocyte	CL:0000738	90.03	gold quality
mononuclear cell	CL:0000842	89.93	gold quality
parotid gland	UBERON:0001831	89.71	gold quality
adrenal cortex	UBERON:0001235	89.67	gold quality
right adrenal gland cortex	UBERON:0035827	89.65	gold quality
cingulate cortex	UBERON:0003027	89.50	gold quality
lower esophagus	UBERON:0013473	89.48	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.44	gold quality
mucosa of transverse colon	UBERON:0004991	89.40	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

miRNA regulators (miRDB)

63 targeting UBL4A, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-3614-5P	99.30	65.25	837

Literature-anchored findings (GeneRIF, showing 12)

• Structures of the Sgt2/SGTA dimerization domain with the Get5/UBL4A UBL domain reveal an interaction that forms a conserved dynamic interface. (PMID:23142665)
• SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation. (PMID:23246001)
• Data indicate that the Bag6-Ubl4A-Trc35 complex is localized to the endoplasmic reticulum (ER) membrane to regulate ER-associated degradation (ERAD). (PMID:23665563)
• Data indicate that BCL2-associated athanogene 6 (BAG6) appears to be the central component for the process, as depletion of BAG6 leads to the loss of both UBL4A and GET4 proteins and resistance to cell killing by DNA-damaging agents. (PMID:23723067)
• The authors identify USP13 as a gp78-associated deubiquitinase that eliminates ubiquitin conjugates from Ubl4A to maintain the functionality of Bag6. (PMID:24424410)
• Data show that molecular chaperone BAG6_ubiquitin-like domain (UBL) and ubiquitin-like 4A UBL4A_UBL compete for the same binding site on N-terminal dimerisation domain of SGTA protein (SGTA_NT). (PMID:25415308)
• Both TRC35 and Ubl4A have distinct C-terminal binding sites on Bag6 defining a minimal Bag6 complex. (PMID:25535373)
• The single point mutation of an aspartic acid to alanine (D122A) in the Ubl4A C-terminus abolishes its ability to bind the Arp2/3 complex. This mutation also destabilizes Ubl4A proteins susceptible to protease degradation. Importantly, ectopic expression of wild-type Ubl4A can induce cell death in colon cancer cells, but such pro-death activity is diminished in the D122A mutant. (PMID:30146258)
• UBL4A is a novel autophagy inhibitor and tumor suppressor in PDAC. Mechanistically, UBL4A is involved in late stage autophagy, particularly in lysosomal dysfunction, causing impaired degradation of autophagosomes. (PMID:31288830)
• a novel positive feedback regulation of UBL4A in innate immune response combating virus invasion by enhancing the K63-linked ubiquitination of TRAF6. (PMID:31451677)
• miR-34b-3p protects against acute kidney injury in sepsis mice via targeting ubiquitin-like protein 4A. (PMID:32609950)
• GdX inhibits the occurrence and progression of breast cancer by negatively modulating the activity of STAT3. (PMID:39487760)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	UBL4A	ENSDARG00000007359
mus_musculus	Ubl4a	ENSMUSG00000015290
rattus_norvegicus	Ubl4a	ENSRNOG00000053061

Paralogs (10): NEDD8 (ENSG00000129559), RPS27A (ENSG00000143947), UBC (ENSG00000150991), UBB (ENSG00000170315), ZFAND4 (ENSG00000172671), UBL4B (ENSG00000186150), ISG15 (ENSG00000187608), ANKUB1 (ENSG00000206199), UBD (ENSG00000213886), UBA52 (ENSG00000221983)

Protein

Protein identifiers

Ubiquitin-like protein 4A — P11441 (reviewed: P11441)

Alternative names: Ubiquitin-like protein GDX

All UniProt accessions (4): P11441, F8WB70, F8WCT8, Q5HY81

UniProt curated annotations — full annotation on UniProt →

Function. As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum. Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome. Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum. The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome.

Subunit / interactions. Component of the BAG6/BAT3 complex, at least composed of BAG6, UBL4A and GET4/TRC35. Interacts with BAG6; the interaction is direct and required for UBL4A protein stability. Interacts with USP13; may be indirect via BAG6.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Post-translational modifications. Polyubiquitinated. Ubiquitination by AMFR and deubiquitination by USP13 may regulate the interaction between the BAG6/BAT3 complex and SGTA and therefore may regulate client proteins fate.

RefSeq proteins (1): NP_055050* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000626	Ubiquitin-like_dom	Domain
IPR019954	Ubiquitin_CS	Conserved_site
IPR019956	Ubiquitin_dom	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR041421	Ubl4_C_TUGS	Domain
IPR044724	Ubl_UBL4A-like	Domain
IPR047154	UBL4A-like	Family

Pfam: PF00240, PF17840

UniProt features (24 total): mutagenesis site 8, strand 5, helix 5, chain 1, domain 1, turn 1, region of interest 1, modified residue 1, cross-link 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
4X86	X-RAY DIFFRACTION	1.85
4WWR	X-RAY DIFFRACTION	2
7RU9	ELECTRON MICROSCOPY	3.3
7RUA	ELECTRON MICROSCOPY	3.4
7RUC	ELECTRON MICROSCOPY	3.6
2DZI	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P11441-F1	79.62	0.35

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 (2): 90, 48

Mutagenesis-validated functional residues (8):

Position	Phenotype
107	strongly inhibits interaction with bag6.
123	no effect on interaction with bag6.
130	no effect on interaction with bag6.
43	reduces tail-anchored proteins delivery.
48	loss of polyubiquitination by amfr.
102	no effect on interaction with bag6.
105	no effect on interaction with bag6.
106	strongly inhibits interaction with bag6.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9609523	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

MSigDB gene sets: 135 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_PROTEIN_TARGETING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, PUJANA_CHEK2_PCC_NETWORK, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, WTGAAAT_UNKNOWN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, ZHU_CMV_ALL_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE

GO Biological Process (5): ubiquitin-dependent protein catabolic process (GO:0006511), post-translational protein targeting to endoplasmic reticulum membrane (GO:0006620), regulation of protein stability (GO:0031647), protein modification process (GO:0036211), tail-anchored membrane protein insertion into ER membrane (GO:0071816)

GO Molecular Function (3): ubiquitin-like protein transferase activity (GO:0019787), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), BAT3 complex (GO:0071818)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein ubiquitination	1
modification-dependent protein catabolic process	1
protein targeting to membrane	1
protein targeting to ER	1
regulation of biological quality	1
protein metabolic process	1
macromolecule modification	1
protein insertion into ER membrane	1
aminoacyltransferase activity	1
catalytic activity, acting on a protein	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
ER membrane insertion complex	1

Protein interactions and networks

STRING

3549 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBL4A	GET4	Q7L5D6	999
UBL4A	GET3	O43681	996
UBL4A	SGTA	O43765	995
UBL4A	BAG6	P46379	986
UBL4A	GET1	O00258	814
UBL4A	CAMLG	P49069	736
UBL4A	LAMP1	P11279	722
UBL4A	TP53	P04637	708
UBL4A	G6PD	P11413	708
UBL4A	FAF2	Q96CS3	653
UBL4A	AMFR	P26442	647
UBL4A	MDM2	Q00987	628
UBL4A	RNF126	Q9BV68	612
UBL4A	GABRE	P78334	602
UBL4A	GABRA3	P34903	599

IntAct

125 interactions, top by confidence:

A	B	Type	Score
GET4	GET3	psi-mi:“MI:0914”(association)	0.800
SGTA	UBL4A	psi-mi:“MI:0915”(physical association)	0.740
GET4	UBL4A	psi-mi:“MI:0914”(association)	0.730
TRAF4	UBL4A	psi-mi:“MI:0915”(physical association)	0.720
UBL4A	TRAF4	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
UBL4A	SGTB	psi-mi:“MI:0915”(physical association)	0.670
GET3	GET1	psi-mi:“MI:0914”(association)	0.640
UBL4A	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
UBL4A	CDCA7L	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	UBL4A	psi-mi:“MI:0915”(physical association)	0.560
PER2	UBL4A	psi-mi:“MI:0915”(physical association)	0.560
UBL4A	S100P	psi-mi:“MI:0915”(physical association)	0.560
UBL4A	ERP27	psi-mi:“MI:0915”(physical association)	0.560
UBL4A	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
UBL4A	CHAT	psi-mi:“MI:0915”(physical association)	0.560
UBL4A	FGFR3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (474): UBL4A (Affinity Capture-MS), UBL4A (Two-hybrid), TRAF4 (Two-hybrid), CDCA7L (Two-hybrid), UBL4A (Reconstituted Complex), SGTA (Reconstituted Complex), UBL4A (Co-crystal Structure), UBL4A (Affinity Capture-RNA), UBL4A (Affinity Capture-RNA), UBL4A (Affinity Capture-Western), USP13 (Reconstituted Complex), UBL4A (Affinity Capture-Western), UBL4A (Biochemical Activity), UBL4A (Biochemical Activity), BAG6 (Co-crystal Structure)

ESM2 similar proteins: A6QLH6, B0KWT6, B1MTV8, B2GV38, B2KIK3, B5X9S9, B5XFI8, B7NZQ9, C1BGZ8, C9J798, O09172, O14908, O43374, O70422, P0CL18, P11441, P21126, P41214, P48507, P48508, P60027, Q0P5I8, Q2T9Y6, Q2TBN5, Q32LP0, Q3B7U9, Q58CR3, Q5R4T1, Q5R812, Q5RA63, Q5RB75, Q5RCR8, Q5ZMQ0, Q66H91, Q68FF6, Q7ZWB2, Q8BPA8, Q8IVD9, Q8R1T1, Q8WUX9

Diamond homologs: A4QND0, B0KWT6, B1MTV8, B2GV38, B2KIK3, B5X9S9, B5XFI8, B7NZQ9, B9DHA6, C1BGZ8, C1BHN7, C1BXU5, C3KHF2, P05759, P0C030, P0C031, P0C032, P0C073, P0C224, P0C273, P0CG68, P0CG70, P0CG73, P0CG83, P0CG84, P0CG85, P0CG86, P0CG87, P0CH04, P0CH05, P0CH06, P0CH07, P0CH08, P0CH09, P0CH10, P0CH11, P0CH27, P0CH28, P0CH32, P0CH33

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
AMFR	“down-regulates activity”	UBL4A	polyubiquitination
USP13	“up-regulates activity”	UBL4A	deubiquitination
UBL4A	“up-regulates activity”	SGTA	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 124 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
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane	5	31.3×	3e-04
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	5	24.2×	6e-04
Defective CFTR causes cystic fibrosis	5	14.4×	3e-03
Signaling by TGF-beta Receptor Complex	5	13.2×	3e-03
Regulation of PTEN stability and activity	5	12.1×	4e-03
RHOQ GTPase cycle	5	11.9×	4e-03
Signaling by NOTCH	5	11.6×	4e-03
Diseases of signal transduction by growth factor receptors and second messengers	9	6.7×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
tail-anchored membrane protein insertion into ER membrane	5	46.8×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	12
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
548971	GRCh37/hg19 Xq28(chrX:153576750-154563104)x1	Pathogenic

SpliceAI

348 predictions. Top by Δscore:

Variant	Effect	Δscore
X:154485647:ATC:A	acceptor_gain	1.0000
X:154485648:TC:T	acceptor_gain	1.0000
X:154485648:TCCTG:T	acceptor_loss	1.0000
X:154485649:CC:C	acceptor_gain	1.0000
X:154485649:CCTG:C	acceptor_loss	1.0000
X:154485650:C:CC	acceptor_gain	1.0000
X:154485651:T:C	acceptor_loss	1.0000
X:154485765:TCTCA:T	donor_loss	1.0000
X:154485766:CTCA:C	donor_loss	1.0000
X:154485768:CACC:C	donor_loss	1.0000
X:154485769:A:T	donor_loss	1.0000
X:154485769:AC:A	donor_gain	1.0000
X:154485770:CC:C	donor_gain	1.0000
X:154485770:CCCT:C	donor_gain	1.0000
X:154486334:CTGG:C	acceptor_loss	1.0000
X:154486335:T:A	acceptor_loss	1.0000
X:154486339:C:CT	acceptor_gain	1.0000
X:154486339:C:T	acceptor_gain	1.0000
X:154486343:C:CT	acceptor_gain	1.0000
X:154486344:G:T	acceptor_gain	1.0000
X:154486532:CCTAC:C	donor_loss	1.0000
X:154486533:CTA:C	donor_loss	1.0000
X:154486534:TACCT:T	donor_loss	1.0000
X:154486535:ACC:A	donor_loss	1.0000
X:154486536:C:CT	donor_loss	1.0000
X:154485576:T:TA	donor_gain	0.9900
X:154485645:TAATC:T	acceptor_gain	0.9900
X:154485646:AATC:A	acceptor_gain	0.9900
X:154485650:C:T	acceptor_gain	0.9900
X:154485760:AC:A	donor_gain	0.9900

AlphaMissense

1004 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:154485928:A:G	L69P	1.000
X:154486301:C:A	K27N	1.000
X:154486301:C:G	K27N	1.000
X:154485934:A:T	L67H	0.999
X:154486243:C:G	G47R	0.999
X:154486254:A:T	L43Q	0.999
X:154486259:C:A	Q41H	0.999
X:154486259:C:G	Q41H	0.999
X:154486293:A:T	V30D	0.999
X:154485928:A:T	L69Q	0.998
X:154485934:A:G	L67P	0.998
X:154485967:A:T	L56H	0.998
X:154486233:A:G	L50P	0.998
X:154486233:A:T	L50Q	0.998
X:154486242:C:A	G47V	0.998
X:154486242:C:T	G47D	0.998
X:154486243:C:A	G47C	0.998
X:154486254:A:G	L43P	0.998
X:154486260:T:G	Q41P	0.998
X:154486303:T:C	K27E	0.998
X:154486567:C:A	K6N	0.998
X:154486567:C:G	K6N	0.998
X:154485952:A:T	I61N	0.997
X:154486247:G:C	F45L	0.997
X:154486247:G:T	F45L	0.997
X:154486249:A:G	F45L	0.997
X:154486251:A:G	L44P	0.997
X:154486251:A:T	L44Q	0.997
X:154486254:A:C	L43R	0.997
X:154486257:C:G	R42P	0.997

dbSNP variants (sampled 300 via entrez): RS1000882856 (X:154487666 G>A), RS1002773458 (X:154485241 G>A), RS1004931965 (X:154484153 G>A,C), RS1005328536 (X:154483618 G>A), RS1007864812 (X:154486165 C>T), RS1009513400 (X:154484251 C>T), RS1009673503 (X:154484582 G>C), RS1009725887 (X:154484902 A>G), RS1013957207 (X:154485271 T>A), RS1014902284 (X:154483644 C>T), RS1019079040 (X:154484326 T>C), RS1019543916 (X:154484531 G>T), RS1020711929 (X:154487626 G>A), RS1022387801 (X:154484910 T>G), RS1024263593 (X:154485048 C>A,T)

Disease associations

OMIM: gene MIM:312070 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002398_37	Neutrophil count	9.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, increases methylation	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
butyraldehyde	decreases expression	1
pyrrolidine dithiocarbamic acid	increases expression, affects cotreatment	1
potassium chromate(VI)	decreases expression	1
bathocuproine sulfonate	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Potassium Dichromate	increases expression	1
Progesterone	decreases expression	1
Smoke	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_TW04	HAP1 UBL4A (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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