EPB41L4B

Summary

EPB41L4B (erythrocyte membrane protein band 4.1 like 4B, HGNC:19818) is a protein-coding gene on chromosome 9q31.3, encoding Band 4.1-like protein 4B (Q9H329). Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18.

Predicted to be a structural constituent of cytoskeleton. Involved in several processes, including positive regulation of cell adhesion; positive regulation of keratinocyte migration; and wound healing. Acts upstream of or within actomyosin structure organization. Located in apical part of cell; cytosol; and plasma membrane.

Source: NCBI Gene 54566 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 133 total
• MANE Select transcript: NM_019114

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19818
Approved symbol	EPB41L4B
Name	erythrocyte membrane protein band 4.1 like 4B
Location	9q31.3
Locus type	gene with protein product
Status	Approved
Aliases	EHM2, LULU2
Ensembl gene	ENSG00000095203
Ensembl biotype	protein_coding
OMIM	610340
Entrez	54566

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 12 protein_coding

ENST00000374557, ENST00000374566, ENST00000933162, ENST00000933163, ENST00000952213, ENST00000952214, ENST00000952215, ENST00000952216, ENST00000952217, ENST00000952218, ENST00000952219, ENST00000952220

RefSeq mRNA: 3 — MANE Select: NM_019114 NM_001385623, NM_018424, NM_019114

CCDS: CCDS43859, CCDS43860

Canonical transcript exons

ENST00000374566 — 26 exons

Exon	Start	End
ENSE00000806030	109243618	109243682
ENSE00000806036	109255511	109255680
ENSE00000926806	109182729	109182797
ENSE00000926807	109185489	109185605
ENSE00000926808	109192278	109192355
ENSE00000926809	109194220	109194397
ENSE00001034214	109213700	109213818
ENSE00001034217	109200236	109200334
ENSE00001034226	109216922	109217145
ENSE00001034231	109207924	109208049
ENSE00001034233	109203663	109203730
ENSE00001130226	109247756	109247789
ENSE00001130231	109251481	109251511
ENSE00001130238	109253441	109253550
ENSE00001463836	109176551	109176696
ENSE00001604217	109268391	109268433
ENSE00001605717	109255774	109255843
ENSE00001614452	109171974	109174623
ENSE00001624788	109258177	109258297
ENSE00001642675	109264980	109265024
ENSE00001652172	109267473	109267551
ENSE00001736234	109263050	109263102
ENSE00001738454	109256136	109256224
ENSE00001764146	109279817	109279921
ENSE00001772755	109256393	109256480
ENSE00003911655	109320141	109321059

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 99.18.

FANTOM5 (CAGE): breadth broad, TPM avg 3.0916 / max 175.9395, expressed in 798 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101885	1.9449	551
101887	0.9323	469
101886	0.2143	98

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.18	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.94	gold quality
colonic mucosa	UBERON:0000317	98.92	gold quality
jejunal mucosa	UBERON:0000399	98.84	gold quality
bronchial epithelial cell	CL:0002328	98.60	gold quality
epithelium of bronchus	UBERON:0002031	98.27	gold quality
body of pancreas	UBERON:0001150	98.13	gold quality
parotid gland	UBERON:0001831	97.64	gold quality
bronchus	UBERON:0002185	97.52	gold quality
ileal mucosa	UBERON:0000331	97.23	gold quality
duodenum	UBERON:0002114	96.52	gold quality
oocyte	CL:0000023	96.37	gold quality
choroid plexus epithelium	UBERON:0003911	96.29	gold quality
rectum	UBERON:0001052	95.82	gold quality
pancreas	UBERON:0001264	95.31	gold quality
mucosa of transverse colon	UBERON:0004991	94.96	gold quality
epithelium of nasopharynx	UBERON:0001951	94.07	gold quality
corpus epididymis	UBERON:0004359	93.92	gold quality
nasal cavity epithelium	UBERON:0005384	93.34	gold quality
upper leg skin	UBERON:0004262	92.98	gold quality
hair follicle	UBERON:0002073	92.82	gold quality
seminal vesicle	UBERON:0000998	92.46	gold quality
liver	UBERON:0002107	92.45	gold quality
pigmented layer of retina	UBERON:0001782	92.21	gold quality
skin of hip	UBERON:0001554	92.18	gold quality
germinal epithelium of ovary	UBERON:0001304	92.02	gold quality
islet of Langerhans	UBERON:0000006	91.80	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.64	gold quality
amniotic fluid	UBERON:0000173	91.42	gold quality
right lobe of liver	UBERON:0001114	91.18	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: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
WASL	Activation

Upstream regulators (CollecTRI, top): AR, ERG

miRNA regulators (miRDB)

77 targeting EPB41L4B, 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-126-5P	100.00	72.71	3180
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975

Literature-anchored findings (GeneRIF, showing 6)

• (review) FERM domains are found in a wide variety of proteins, but in particular they constitute the major, and in some cases the only, recognized functional domain present in the FRMDs. (PMID:23662806)
• Ehm2 may be an important player in the wound healing process; Ehm2 knockdown downregulates the expression of NWasp, through which it may have its effect on cellular migration (PMID:23664528)
• CRB3A recruits p114RhoGEF and its activator Ehm2 to the cell periphery using both functional motifs of its cytoplasmic tail and increases RhoA activation levels. (PMID:26217016)
• We found that CRB3-induced proliferation is epidermal growth factor (EGF)-independent and occurs through a mechanism that involves secretion of the EGF-family ligand, amphiregulin (AREG)..We identified the FBD-containing protein, EPB41L4B, as an essential mediator of CRB3-driven proliferation and observed that the CRB3-dependent changes in endocytic trafficking were also dependent on EPB41L4B (PMID:30440051)
• Data show that the two Ehm2 variants appear to be differentially expressed in lung adenocarcinoma. Ehm2/1 may function as a putative tumor suppressor in the disease progression of lung adenocarcinoma, while Ehm2/2 may have an opposite function. (PMID:30816447)
• Ehm2 transcript variant 1 inhibits breast cancer progression and increases E-cadherin stability. (PMID:36422008)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	epb41l4b	ENSDARG00000061398
mus_musculus	Epb41l4b	ENSMUSG00000028434
rattus_norvegicus	Epb41l4b	ENSRNOG00000056550
drosophila_melanogaster	yrt	FBGN0004049
drosophila_melanogaster	cora	FBGN0010434
drosophila_melanogaster	Frmd5	FBGN0032225
caenorhabditis_elegans	erm-1	WBGENE00001333
caenorhabditis_elegans	frm-1	WBGENE00001488
caenorhabditis_elegans		WBGENE00001489
caenorhabditis_elegans	frm-4	WBGENE00001491

Paralogs (10): MYLIP (ENSG00000007944), EPB41L2 (ENSG00000079819), EPB41L3 (ENSG00000082397), EPB41L1 (ENSG00000088367), EPB41L5 (ENSG00000115109), EPB41L4A (ENSG00000129595), FRMD6 (ENSG00000139926), EPB41 (ENSG00000159023), FRMD5 (ENSG00000171877), FRMD3 (ENSG00000172159)

Protein

Protein identifiers

Band 4.1-like protein 4B — Q9H329 (reviewed: Q9H329)

Alternative names: Erythrocyte membrane protein band 4.1-like 4B, FERM-containing protein CG1, Protein EHM2

All UniProt accessions (1): Q9H329

UniProt curated annotations — full annotation on UniProt →

Function. Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18. Involved in the regulation of the circumferential actomyosin belt in epithelial cells. Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing. May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation.

Subunit / interactions. Interacts (via FERM domain) with ARHGEF18 (via C-terminus); the interaction activates ARHGEF18.

Subcellular location. Cytoplasm. Cell junction. Tight junction.

Tissue specificity. Expressed at higher levels in acute wounds than chronic wounds with increased expression in healing wounds, especially at the leading wound edge. Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in testis with lower levels in prostate and breast.

Post-translational modifications. May be negatively regulated by phosphorylation.

Induction. By the androgen dihydrotestosterone (DHT).

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H329-1	1	yes
Q9H329-2	2

RefSeq proteins (3): NP_001372552, NP_060894, NP_061987* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000299	FERM_domain	Domain
IPR000798	Ez/rad/moesin-like	Family
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR014847	FA	Domain
IPR018979	FERM_N	Domain
IPR018980	FERM_PH-like_C	Domain
IPR019747	FERM_CS	Conserved_site
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR030698	EHM2_FERM_F1	Domain
IPR035963	FERM_2	Homologous_superfamily

Pfam: PF00373, PF08736, PF09379, PF09380

UniProt features (15 total): region of interest 5, compositionally biased region 3, splice variant 2, sequence conflict 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H329-F1	59.11	0.28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 220 (showing top): AHRARNT_01, TGGTGCT_MIR29A_MIR29B_MIR29C, MODULE_255, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, PEREZ_TP63_TARGETS, GOBP_KERATINOCYTE_PROLIFERATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, MODULE_317, CACCAGC_MIR138, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_WOUND_HEALING

GO Biological Process (5): positive regulation of gene expression (GO:0010628), actomyosin structure organization (GO:0031032), wound healing (GO:0042060), positive regulation of cell adhesion (GO:0045785), positive regulation of keratinocyte migration (GO:0051549)

GO Molecular Function (2): structural constituent of cytoskeleton (GO:0005200), cytoskeletal protein binding (GO:0008092)

GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), apical part of cell (GO:0045177), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
actin cytoskeleton organization	1
response to wounding	1
tissue regeneration	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
positive regulation of epithelial cell migration	1
keratinocyte migration	1
regulation of keratinocyte migration	1
structural molecule activity	1
cytoskeleton	1
cytoskeleton organization	1
protein binding	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
cell junction	1

Protein interactions and networks

STRING

706 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPB41L4B	TAAR1	Q96RJ0	850
EPB41L4B	ARHGEF18	Q6ZSZ5	607
EPB41L4B	A0A087WZG4	A0A087WZG4	606
EPB41L4B	ZNF641	Q96N77	498
EPB41L4B	TUBB1	Q9H4B7	476
EPB41L4B	SCNN1G	P51170	475
EPB41L4B	OR13C8	Q8NGS7	434
EPB41L4B	FRRS1L	Q9P0K9	434
EPB41L4B	CASQ2	O14958	430
EPB41L4B	RSPO4	Q2I0M5	401
EPB41L4B	AR	P10275	389
EPB41L4B	PALS1	Q8N3R9	383
EPB41L4B	PATJ	Q8NI35	383
EPB41L4B	ESR2	Q92731	380
EPB41L4B	NSMAF	Q92636	377

IntAct

40 interactions, top by confidence:

A	B	Type	Score
EAF1	ELL2	psi-mi:“MI:0914”(association)	0.840
PRKCZ	IPO5	psi-mi:“MI:0914”(association)	0.530
CASQ2	PES1	psi-mi:“MI:0914”(association)	0.530
CRB1	EPB41L4B	psi-mi:“MI:0915”(physical association)	0.370
EPB41L4B	LAMC3	psi-mi:“MI:0915”(physical association)	0.370
FADD	CHUK	psi-mi:“MI:0914”(association)	0.350
ARRDC3	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZCCHC10	C1orf226	psi-mi:“MI:0914”(association)	0.350
RPS6	CCDC85C	psi-mi:“MI:0914”(association)	0.350
EPB41L4B	SETD1A	psi-mi:“MI:0914”(association)	0.350
ZNF121	LRP4	psi-mi:“MI:0914”(association)	0.350
EPB41L4B	RPSA2	psi-mi:“MI:0914”(association)	0.350
SURF6	GTPBP10	psi-mi:“MI:0914”(association)	0.350
RPL7A	GTPBP10	psi-mi:“MI:0914”(association)	0.350
PRKRA	GTPBP10	psi-mi:“MI:0914”(association)	0.350
NEIL1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
ZC3H10	GTPBP10	psi-mi:“MI:0914”(association)	0.350
RPS6		psi-mi:“MI:0914”(association)	0.350
RPS8		psi-mi:“MI:0914”(association)	0.350
H1-1		psi-mi:“MI:0914”(association)	0.350
DGCR8		psi-mi:“MI:0914”(association)	0.350
SRSF1		psi-mi:“MI:0914”(association)	0.350
ABT1		psi-mi:“MI:0914”(association)	0.350
H2AC11		psi-mi:“MI:0914”(association)	0.350
RPL14	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
RPL31	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
RPL11	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
NPM3	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350

BioGRID (107): EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Biochemical Activity), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), EPB41L4B (Proximity Label-MS)

ESM2 similar proteins: A1L1I3, A5PKW4, O08919, O70405, O75385, O75420, O75553, P16554, P42128, P49757, P53814, P85037, P97318, P98081, Q04637, Q2LC84, Q3UCQ1, Q4KMP7, Q5DTT2, Q5I1X5, Q5RBR0, Q5VZ18, Q69ZH9, Q69ZI1, Q7TN02, Q7Z6J0, Q80VC9, Q80XI3, Q80Z38, Q86V15, Q8BGT6, Q8BHL3, Q8BSD5, Q8C120, Q8CI12, Q8IY33, Q8K4J6, Q8N3F8, Q8TEH3, Q8TEJ3

Diamond homologs: A2A2Y4, A2AD83, A2ALK8, B2RYE5, F1LYQ8, F1P065, F8VPU2, O43491, O57457, O70318, O94887, P11171, P11434, P26045, P28191, P29074, P48193, P52963, Q0P4Q4, Q54K81, Q58CU2, Q5FVG2, Q5R803, Q5RAB8, Q6P5H6, Q6Q7P4, Q6ZUT3, Q7Z6J6, Q8BGS1, Q8BHD4, Q91VS8, Q9H329, Q9H4G0, Q9HCM4, Q9HCS5, Q9JMC8, Q9MYU8, Q9N179, Q9V8R9, Q9WTP0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ERG	“up-regulates quantity by expression”	EPB41L4B	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 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
Peptide chain elongation	8	29.0×	1e-08
Viral mRNA Translation	8	29.0×	1e-08
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	8	28.7×	1e-08
Selenocysteine synthesis	8	27.5×	1e-08
Eukaryotic Translation Termination	8	27.5×	1e-08
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	8	26.9×	1e-08
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	8	26.9×	1e-08
Formation of a pool of free 40S subunits	8	25.6×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	9	34.7×	1e-09
translation	9	19.3×	1e-07
rRNA processing	5	14.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	108
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4577 predictions. Top by Δscore:

Variant	Effect	Δscore
9:109174619:CTGCA:C	acceptor_gain	1.0000
9:109174621:GCA:G	acceptor_gain	1.0000
9:109174622:CA:C	acceptor_gain	1.0000
9:109174622:CAC:C	acceptor_gain	1.0000
9:109174624:C:CC	acceptor_gain	1.0000
9:109174624:CTAAA:C	acceptor_loss	1.0000
9:109176546:CCTA:C	donor_loss	1.0000
9:109176547:CTACC:C	donor_loss	1.0000
9:109176548:TACC:T	donor_loss	1.0000
9:109176549:A:C	donor_loss	1.0000
9:109176550:C:A	donor_loss	1.0000
9:109176550:CCTGG:C	donor_gain	1.0000
9:109176693:CTGC:C	acceptor_gain	1.0000
9:109176697:C:CC	acceptor_gain	1.0000
9:109200234:A:AC	donor_gain	1.0000
9:109200235:C:CC	donor_gain	1.0000
9:109200235:CAAA:C	donor_gain	1.0000
9:109200258:T:TA	donor_gain	1.0000
9:109200347:C:CT	acceptor_gain	1.0000
9:109207918:GCGCA:G	donor_loss	1.0000
9:109207919:CGCA:C	donor_loss	1.0000
9:109207920:GCACC:G	donor_loss	1.0000
9:109207921:CAC:C	donor_loss	1.0000
9:109207922:A:C	donor_loss	1.0000
9:109207923:C:T	donor_loss	1.0000
9:109208046:CAGC:C	acceptor_gain	1.0000
9:109208048:GCC:G	acceptor_loss	1.0000
9:109208049:CCTG:C	acceptor_loss	1.0000
9:109208050:C:CC	acceptor_gain	1.0000
9:109208050:C:CG	acceptor_loss	1.0000

AlphaMissense

5865 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:109253487:C:A	R411S	1.000
9:109253487:C:G	R411S	1.000
9:109255519:G:C	F387L	1.000
9:109255519:G:T	F387L	1.000
9:109255521:A:G	F387L	1.000
9:109255615:C:A	W355C	1.000
9:109255615:C:G	W355C	1.000
9:109255617:A:G	W355R	1.000
9:109255617:A:T	W355R	1.000
9:109255619:A:G	L354P	1.000
9:109255627:G:C	C351W	1.000
9:109255628:C:T	C351Y	1.000
9:109255651:G:C	F343L	1.000
9:109255651:G:T	F343L	1.000
9:109255652:A:G	F343S	1.000
9:109255653:A:G	F343L	1.000
9:109255657:A:C	F341L	1.000
9:109255657:A:T	F341L	1.000
9:109255658:A:G	F341S	1.000
9:109255659:A:G	F341L	1.000
9:109255799:A:G	L325P	1.000
9:109255799:A:T	L325H	1.000
9:109255805:A:G	L323S	1.000
9:109255835:A:C	I313S	1.000
9:109255843:C:A	W310C	1.000
9:109255843:C:G	W310C	1.000
9:109256137:A:G	W310R	1.000
9:109256137:A:T	W310R	1.000
9:109256138:A:C	F309L	1.000
9:109256138:A:T	F309L	1.000

dbSNP variants (sampled 300 via entrez): RS1000043541 (9:109266934 A>T), RS1000051268 (9:109297248 A>C,T), RS1000057125 (9:109236031 C>A,T), RS1000113003 (9:109232776 G>C), RS1000131790 (9:109238020 G>A), RS1000145353 (9:109280894 C>A), RS1000163732 (9:109232506 A>G,T), RS1000174284 (9:109202148 G>A,T), RS1000203347 (9:109277860 A>T), RS1000203980 (9:109272236 C>T), RS1000258046 (9:109214565 C>T), RS1000265742 (9:109311572 C>T), RS1000276666 (9:109195599 A>C), RS1000283060 (9:109232132 C>T), RS1000292626 (9:109261674 G>T)

Disease associations

OMIM: gene MIM:610340 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002783_121	Body mass index	3.000000e-07
GCST002783_146	Body mass index	3.000000e-08
GCST002783_333	Body mass index	2.000000e-08
GCST003182_3	Staphylococcus aureus nasal carriage (persistent)	8.000000e-07
GCST003210_10	Low vWF levels	1.000000e-06
GCST004904_82	Body mass index	2.000000e-12
GCST008022_2	Umami taste perception in obesity with metabolic syndrome	6.000000e-06
GCST009304_13	Degraded stimulus continuous performance test score	5.000000e-06
GCST010988_403	Adult body size	3.000000e-08
GCST011348_22	High density lipoprotein cholesterol levels	2.000000e-10
GCST90011898_115	Alanine aminotransferase levels	1.000000e-10
GCST90013405_54	Liver enzyme levels (alanine transaminase)	7.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007757	persistent Staphylococcus aureus carrier status
EFO:0007636	attention function measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	7
bisphenol A	affects cotreatment, increases methylation, increases expression	2
entinostat	increases expression, affects cotreatment	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	increases methylation, decreases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Indomethacin	increases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	increases expression	1
Arsenic	increases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Calcitriol	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Lead	affects expression	1

Clinical trials (associated diseases)

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