EPB41L5

Summary

EPB41L5 (erythrocyte membrane protein band 4.1 like 5, HGNC:19819) is a protein-coding gene on chromosome 2q14.2, encoding Band 4.1-like protein 5 (Q9HCM4). Plays a role in the formation and organization of tight junctions during the establishment of polarity in epithelial cells.

Predicted to enable cytoskeletal protein binding activity and protein domain specific binding activity. Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in cytosol; nucleoplasm; and plasma membrane.

Source: NCBI Gene 57669 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 140 total
• MANE Select transcript: NM_020909

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19819
Approved symbol	EPB41L5
Name	erythrocyte membrane protein band 4.1 like 5
Location	2q14.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1548, FLJ12957, BE37, YMO1, YRT, LULU, LULU1
Ensembl gene	ENSG00000115109
Ensembl biotype	protein_coding
OMIM	611730
Entrez	57669

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000263713, ENST00000331393, ENST00000443124, ENST00000443902, ENST00000452780, ENST00000461128, ENST00000466241, ENST00000488691, ENST00000489017, ENST00000495030, ENST00000851970, ENST00000851971, ENST00000851972, ENST00000851973, ENST00000851974, ENST00000851975, ENST00000851976, ENST00000911772

RefSeq mRNA: 6 — MANE Select: NM_020909 NM_001184937, NM_001184938, NM_001184939, NM_001330307, NM_001330310, NM_020909

CCDS: CCDS2130, CCDS54392, CCDS54393, CCDS82506

Canonical transcript exons

ENST00000263713 — 25 exons

Exon	Start	End
ENSE00000925757	120074100	120074178
ENSE00000925758	120075476	120075520
ENSE00000925759	120075701	120075753
ENSE00000925760	120076971	120077091
ENSE00000925763	120077229	120077316
ENSE00000925764	120078493	120078581
ENSE00000925769	120090347	120090516
ENSE00000963709	120019077	120019264
ENSE00000963710	120127688	120127851
ENSE00001020713	120160881	120160974
ENSE00001020716	120167877	120168007
ENSE00001129520	120146225	120146289
ENSE00001129526	120143003	120143131
ENSE00001129531	120131618	120131715
ENSE00001602197	120174841	120179119
ENSE00001742091	120087171	120087240
ENSE00001811445	120013077	120013210
ENSE00003478411	120100699	120100814
ENSE00003482884	120042006	120042110
ENSE00003497278	120167466	120167507
ENSE00003511915	120164836	120164910
ENSE00003557511	120091555	120091661
ENSE00003648866	120073178	120073220
ENSE00003668881	120100244	120100286
ENSE00003682508	120093249	120093276

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9654 / max 344.8437, expressed in 1571 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22296	12.2083	1562
22297	0.6808	296
22300	0.0763	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	98.37	gold quality
secondary oocyte	CL:0000655	96.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.88	gold quality
right lung	UBERON:0002167	92.57	gold quality
right lobe of liver	UBERON:0001114	92.36	gold quality
islet of Langerhans	UBERON:0000006	90.63	gold quality
left lobe of thyroid gland	UBERON:0001120	90.01	gold quality
ganglionic eminence	UBERON:0004023	89.76	gold quality
thyroid gland	UBERON:0002046	89.52	gold quality
right lobe of thyroid gland	UBERON:0001119	89.48	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.32	gold quality
cerebellar hemisphere	UBERON:0002245	89.27	gold quality
cerebellar cortex	UBERON:0002129	89.11	gold quality
ventricular zone	UBERON:0003053	89.03	gold quality
body of pancreas	UBERON:0001150	88.93	gold quality
parotid gland	UBERON:0001831	88.88	gold quality
liver	UBERON:0002107	88.64	gold quality
metanephros cortex	UBERON:0010533	88.48	gold quality
upper lobe of left lung	UBERON:0008952	88.40	gold quality
pancreas	UBERON:0001264	88.23	gold quality
upper lobe of lung	UBERON:0008948	87.89	gold quality
lower esophagus mucosa	UBERON:0035834	87.60	gold quality
calcaneal tendon	UBERON:0003701	87.43	gold quality
cerebellum	UBERON:0002037	87.38	gold quality
mucosa of transverse colon	UBERON:0004991	86.31	gold quality
testis	UBERON:0000473	86.21	gold quality
adult mammalian kidney	UBERON:0000082	85.95	gold quality
saliva-secreting gland	UBERON:0001044	85.81	gold quality
sperm	CL:0000019	85.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	27.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

126 targeting EPB41L5, 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-656-3P	100.00	72.15	2788
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836

Literature-anchored findings (GeneRIF, showing 10)

• the importance of a conserved Crumbs-MPP5-EPB41L5 polarity complex in mammals for separation of the apical and basolateral domains through specialized cell-cell junctions (PMID:17920587)
• YMO1 suppresses tumor invasion and metastasis by inhibiting RhoC activity. (PMID:27487132)
• Arf6 appears to be necessary for both RhoA- and Rac1-driven cancer invasion (PMID:27754741)
• The Squamous cell carcinoma of the tongue cell line SCC-9, which overexpress Arf6 and AMAP1, also expressed EPB41L5 at high levels to promote invasiveness, whereas the weakly invasive SCC-25 cells did not express EPB41L5 at notable levels. (PMID:27871329)
• A diminution of EPB41L5-dependent signaling programs appears to be a common theme of podocyte disease, and therefore offers unexpected interventional therapeutic strategies to prevent podocyte loss and kidney disease progression. (PMID:28536193)
• Increased expression of Erythrocyte membrane protein band 4.1-like 5 ( EPB41L5) in gastric cancer associated with poor prognosis and low survival rate. In experimental models, EPB41L5 mediated TGF induces metastasis. (PMID:30814110)
• These results support further investigation into whether EPB41L5 is a biomarker of PNETs with high risk for metastases (PMID:31467225)
• EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission. (PMID:33761352)
• EPB41L5 promotes EMT through the ERK/p38 MAPK signaling pathway in esophageal squamous cell carcinoma. (PMID:34784520)
• ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5. (PMID:36596853)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	epb41l5	ENSDARG00000032324
mus_musculus	Epb41l5	ENSMUSG00000026383
rattus_norvegicus	Epb41l5	ENSRNOG00000002538
drosophila_melanogaster	yrt	FBGN0004049
drosophila_melanogaster	Frmd5	FBGN0032225
caenorhabditis_elegans		WBGENE00001489
caenorhabditis_elegans	frm-4	WBGENE00001491

Paralogs (10): MYLIP (ENSG00000007944), EPB41L2 (ENSG00000079819), EPB41L3 (ENSG00000082397), EPB41L1 (ENSG00000088367), EPB41L4B (ENSG00000095203), EPB41L4A (ENSG00000129595), FRMD6 (ENSG00000139926), EPB41 (ENSG00000159023), FRMD5 (ENSG00000171877), FRMD3 (ENSG00000172159)

Protein

Protein identifiers

Band 4.1-like protein 5 — Q9HCM4 (reviewed: Q9HCM4)

Alternative names: Erythrocyte membrane protein band 4.1-like 5

All UniProt accessions (1): Q9HCM4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the formation and organization of tight junctions during the establishment of polarity in epithelial cells.

Subunit / interactions. Component of a complex composed of PALS1, CRB1 and EPB41L5. Within the complex, interacts (via FERM domain) with PALS1 (via HOOK domain) and with CRB1 (via intracellular domain). Interacts with CRB2 (via intracellular domain). Interacts with CRB3 (via intracellular domain).

Subcellular location. Cytoplasm. Cell junction. Adherens junction. Cell membrane. Photoreceptor inner segment.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9HCM4-1	1	yes
Q9HCM4-2	2
Q9HCM4-3	3
Q9HCM4-4	4

RefSeq proteins (6): NP_001171866, NP_001171867, NP_001171868, NP_001317236, NP_001317239, NP_065960* (*=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
IPR035963	FERM_2	Homologous_superfamily

Pfam: PF00373, PF08736, PF09379, PF09380

UniProt features (13 total): splice variant 5, modified residue 3, sequence variant 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCM4-F1	64.87	0.37

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 (3): 39, 436, 517

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6794361	Neurexins and neuroligins

MSigDB gene sets: 268 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, MYAATNNNNNNNGGC_UNKNOWN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_AXIS_SPECIFICATION, MYOGENIN_Q6, GOBP_EMBRYONIC_AXIS_SPECIFICATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_EPITHELIAL_CELL_DEVELOPMENT, PEREZ_TP63_TARGETS, GOZGIT_ESR1_TARGETS_DN, GOBP_FOCAL_ADHESION_ASSEMBLY, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, GOBP_GROWTH

GO Biological Process (28): in utero embryonic development (GO:0001701), epithelial to mesenchymal transition (GO:0001837), neural plate morphogenesis (GO:0001839), apical constriction (GO:0003383), substrate-dependent cell migration, cell attachment to substrate (GO:0006931), ectoderm development (GO:0007398), endoderm development (GO:0007492), mesoderm migration involved in gastrulation (GO:0007509), unidimensional cell growth (GO:0009826), post-transcriptional regulation of gene expression (GO:0010608), positive regulation of epithelial cell migration (GO:0010634), negative regulation of cell-cell adhesion (GO:0022408), actomyosin structure organization (GO:0031032), somite rostral/caudal axis specification (GO:0032525), axial mesoderm morphogenesis (GO:0048319), paraxial mesoderm development (GO:0048339), embryonic foregut morphogenesis (GO:0048617), positive regulation of focal adhesion assembly (GO:0051894), regulation of establishment of protein localization (GO:0070201), left/right axis specification (GO:0070986), cellular response to transforming growth factor beta stimulus (GO:0071560), cell morphogenesis (GO:0000902), somitogenesis (GO:0001756), positive regulation of cell-matrix adhesion (GO:0001954), epithelial cell morphogenesis (GO:0003382), mesoderm development (GO:0007498), actin cytoskeleton organization (GO:0030036), axial mesoderm development (GO:0048318)

GO Molecular Function (3): cytoskeletal protein binding (GO:0008092), protein domain specific binding (GO:0019904), protein binding (GO:0005515)

GO Cellular Component (12): photoreceptor inner segment (GO:0001917), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), adherens junction (GO:0005912), focal adhesion (GO:0005925), ruffle membrane (GO:0032587), cytoplasm (GO:0005737), membrane (GO:0016020), cell leading edge (GO:0031252), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein-protein interactions at synapses	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
tissue development	2
protein binding	2
chordate embryonic development	1
mesenchymal cell differentiation	1
neural plate development	1
morphogenesis of embryonic epithelium	1
epithelial cell morphogenesis	1
actin-mediated cell contraction	1
substrate-dependent cell migration	1
cell-substrate adhesion	1
mesoderm formation	1
mesodermal cell migration	1
cell migration involved in gastrulation	1
tissue migration	1
cell morphogenesis	1
cell growth	1
developmental growth involved in morphogenesis	1
regulation of gene expression	1
epithelial cell migration	1
regulation of epithelial cell migration	1
positive regulation of cell migration	1
negative regulation of cell adhesion	1
regulation of cell-cell adhesion	1
cell-cell adhesion	1
actin cytoskeleton organization	1
embryonic axis specification	1
somitogenesis	1
anterior/posterior axis specification	1
axial mesoderm development	1
mesoderm morphogenesis	1
mesoderm development	1
mesenchyme development	1
foregut morphogenesis	1
embryonic morphogenesis	1
positive regulation of cell-matrix adhesion	1
focal adhesion assembly	1
regulation of focal adhesion assembly	1
positive regulation of cell-substrate junction organization	1
positive regulation of cell junction assembly	1

Protein interactions and networks

STRING

776 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPB41L5	CRB2	Q5IJ48	857
EPB41L5	CNTNAP1	P78357	854
EPB41L5	NXN	Q6DKJ4	853
EPB41L5	CRB3	Q9BUF7	825
EPB41L5	PALS1	Q8N3R9	781
EPB41L5	PATJ	Q8NI35	741
EPB41L5	EPB41	P11171	632
EPB41L5	TJP1	Q07157	604
EPB41L5	CTNND1	O60716	532
EPB41L5	CDH1	P12830	524
EPB41L5	RHOC	P08134	508
EPB41L5	XTBD1	Q96HQ2	488
EPB41L5	TMEM185B	Q9H7F4	474
EPB41L5	ATP1A4	Q13733	458
EPB41L5	ATP1B1	P05026	450

IntAct

132 interactions, top by confidence:

A	B	Type	Score
EAF1	ELL2	psi-mi:“MI:0914”(association)	0.840
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PTK2	TGFB1I1	psi-mi:“MI:0914”(association)	0.680
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
PALS1	EPB41L5	psi-mi:“MI:0915”(physical association)	0.580
CRB1	EPB41L5	psi-mi:“MI:0915”(physical association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
GPBP1L1	CNOT1	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
EPB41L3	AP3B1	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
TRPC4AP	SMCHD1	psi-mi:“MI:0914”(association)	0.530
CASQ2	PES1	psi-mi:“MI:0914”(association)	0.530
MDK	SETD1A	psi-mi:“MI:0914”(association)	0.530
EPB41L5	SETD1A	psi-mi:“MI:0914”(association)	0.530
PRICKLE3	SIAH2	psi-mi:“MI:0914”(association)	0.530
NAP1L1	FNTB	psi-mi:“MI:0914”(association)	0.530
RNF135	XRCC4	psi-mi:“MI:0914”(association)	0.530
KRR1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530

BioGRID (395): EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Proximity Label-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS), EPB41L5 (Affinity Capture-MS)

ESM2 similar proteins: A2AD83, A4Q9F0, A6QP06, A7KAX9, B2RYE5, B4K6T8, F7E540, G5EEW9, O00443, O13839, O43283, O96838, P11171, P11434, P48193, Q12923, Q14693, Q22744, Q3V0G7, Q5FVG2, Q5R8N8, Q5R8X7, Q5RAY1, Q61194, Q64512, Q6DTM3, Q6GPD0, Q6Q7P4, Q6ZT98, Q6ZUT3, Q811P8, Q8BGS1, Q8BPQ7, Q8CHB8, Q8K3Y6, Q8WYB5, Q91573, Q91ZP3, Q96HH9, Q99PI5

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

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 144 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
Activation of BAD and translocation to mitochondria	5	39.2×	2e-05
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	34.6×	2e-05
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	34.6×	2e-05
Activation of BH3-only proteins	5	25.6×	7e-05
RHO GTPases activate PKNs	6	19.6×	3e-05
SARS-CoV-1-host interactions	9	16.3×	2e-06
Intrinsic Pathway for Apoptosis	5	15.1×	8e-04
SARS-CoV-1 Infection	9	13.2×	8e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	103
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3982 predictions. Top by Δscore:

Variant	Effect	Δscore
2:120013208:CAGG:C	donor_loss	1.0000
2:120013209:AGGTA:A	donor_loss	1.0000
2:120013210:GGTA:G	donor_loss	1.0000
2:120013211:G:GC	donor_loss	1.0000
2:120013212:T:G	donor_loss	1.0000
2:120019073:ATAGT:A	acceptor_gain	1.0000
2:120019074:T:G	acceptor_gain	1.0000
2:120019074:TA:T	acceptor_loss	1.0000
2:120019075:A:AG	acceptor_gain	1.0000
2:120019075:AG:A	acceptor_loss	1.0000
2:120019075:AGT:A	acceptor_gain	1.0000
2:120019076:G:GT	acceptor_gain	1.0000
2:120019076:GT:G	acceptor_gain	1.0000
2:120019076:GTG:G	acceptor_gain	1.0000
2:120019076:GTGA:G	acceptor_gain	1.0000
2:120019076:GTGAC:G	acceptor_gain	1.0000
2:120019261:GCCA:G	donor_gain	1.0000
2:120019265:GTAA:G	donor_gain	1.0000
2:120019269:G:GG	donor_gain	1.0000
2:120042000:TTTCA:T	acceptor_loss	1.0000
2:120042001:TTCAG:T	acceptor_loss	1.0000
2:120042002:TCAG:T	acceptor_loss	1.0000
2:120042003:CAGA:C	acceptor_loss	1.0000
2:120042004:A:AG	acceptor_gain	1.0000
2:120042004:A:AT	acceptor_loss	1.0000
2:120042005:G:GA	acceptor_gain	1.0000
2:120042005:GAA:G	acceptor_gain	1.0000
2:120042005:GAAA:G	acceptor_gain	1.0000
2:120042005:GAAAA:G	acceptor_gain	1.0000
2:120042106:TAGCA:T	donor_gain	1.0000

AlphaMissense

4809 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:120019217:T:C	C45R	1.000
2:120019224:T:A	V47E	1.000
2:120019230:T:C	L49P	1.000
2:120042028:T:C	L68S	1.000
2:120042028:T:G	L68W	1.000
2:120042076:T:C	F84S	1.000
2:120042082:T:C	L86P	1.000
2:120042087:T:C	F88L	1.000
2:120042088:T:C	F88S	1.000
2:120042089:T:A	F88L	1.000
2:120042089:T:G	F88L	1.000
2:120073181:T:A	W97R	1.000
2:120073181:T:C	W97R	1.000
2:120073183:G:C	W97C	1.000
2:120073183:G:T	W97C	1.000
2:120073185:T:C	L98S	1.000
2:120073185:T:G	L98W	1.000
2:120073197:A:T	K102I	1.000
2:120074118:T:C	L116P	1.000
2:120074130:T:A	V120D	1.000
2:120074132:A:G	K121E	1.000
2:120074135:T:C	F122L	1.000
2:120074136:T:C	F122S	1.000
2:120074137:T:A	F122L	1.000
2:120074137:T:G	F122L	1.000
2:120074138:T:G	Y123D	1.000
2:120074150:C:T	P127S	1.000
2:120074151:C:A	P127Q	1.000
2:120074151:C:G	P127R	1.000
2:120074160:T:A	L130H	1.000

dbSNP variants (sampled 300 via entrez): RS1000004172 (2:120022222 T>A,C), RS1000011910 (2:120155139 C>A), RS1000037006 (2:120138812 C>A,T), RS1000037269 (2:120024940 A>G,T), RS1000038939 (2:120018092 C>A), RS1000041403 (2:120175281 C>T), RS1000060321 (2:120062641 G>A,T), RS1000070856 (2:120175646 T>C), RS1000124256 (2:120028530 A>G,T), RS1000153161 (2:120048872 T>G), RS1000163177 (2:120150074 C>T), RS1000165558 (2:120033298 T>G), RS1000166216 (2:120027243 G>A), RS1000224417 (2:120117656 G>A), RS1000235102 (2:120161967 G>T)

Disease associations

OMIM: gene MIM:611730 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001585_30	Breast size	2.000000e-06
GCST004607_220	Plateletcrit	1.000000e-09
GCST008059_170	Estimated glomerular filtration rate	2.000000e-13
GCST010083_245	Hemoglobin levels	1.000000e-12
GCST90002383_186	Hematocrit	1.000000e-15
GCST90002384_231	Hemoglobin	6.000000e-17
GCST90002403_116	Red blood cell count	1.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0004509	hemoglobin measurement
EFO:0004348	hematocrit
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, affects expression, decreases methylation, affects cotreatment	8
trichostatin A	affects cotreatment, decreases expression, increases expression, affects expression	4
sodium arsenite	decreases expression, increases abundance, increases expression	4
Benzo(a)pyrene	increases methylation, decreases expression	4
Tretinoin	decreases expression, increases expression	3
bisphenol A	decreases expression, decreases methylation	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Vorinostat	affects cotreatment, increases expression, decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	increases expression	2
Arsenic	increases methylation, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression, increases expression, affects expression	2
Smoke	decreases expression, increases abundance	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
TL8-506	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
geldanamycin	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
arsenite	decreases reaction, affects binding	1
butyraldehyde	decreases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
coumarin	increases phosphorylation	1
nivalenol	increases expression	1
monomethylarsonous acid	increases expression	1
K 7174	increases expression	1
belinostat	increases expression	1

Clinical trials (associated diseases)

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