CHMP2A

Summary

CHMP2A (charged multivesicular body protein 2A, HGNC:30216) is a protein-coding gene on chromosome 19q13.43, encoding Charged multivesicular body protein 2a (O43633). Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).

Source: NCBI Gene 27243 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 31 total
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_014453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30216
Approved symbol	CHMP2A
Name	charged multivesicular body protein 2A
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	BC-2, CHMP2, VPS2, VPS2A
Ensembl gene	ENSG00000130724
Ensembl biotype	protein_coding
OMIM	610893
Entrez	27243

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 40 protein_coding, 5 retained_intron

ENST00000312547, ENST00000596708, ENST00000597209, ENST00000597848, ENST00000600006, ENST00000600118, ENST00000600804, ENST00000601220, ENST00000686722, ENST00000688139, ENST00000691588, ENST00000884944, ENST00000884945, ENST00000884946, ENST00000884947, ENST00000884948, ENST00000884949, ENST00000884950, ENST00000884951, ENST00000884952, ENST00000884953, ENST00000884954, ENST00000884955, ENST00000884956, ENST00000884957, ENST00000884958, ENST00000884959, ENST00000884960, ENST00000917463, ENST00000917464, ENST00000917465, ENST00000917466, ENST00000917467, ENST00000917468, ENST00000917469, ENST00000917470, ENST00000917471, ENST00000917472, ENST00000917473, ENST00000917474, ENST00000917475, ENST00000917476, ENST00000917477, ENST00000917478, ENST00000944519

RefSeq mRNA: 2 — MANE Select: NM_014453 NM_014453, NM_198426

CCDS: CCDS12986

Canonical transcript exons

ENST00000312547 — 6 exons

Exon	Start	End
ENSE00000655810	58552259	58552438
ENSE00000892672	58551906	58551967
ENSE00000892673	58551566	58551776
ENSE00001198970	58554988	58555105
ENSE00003635919	58554045	58554236
ENSE00003787261	58552055	58552185

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 98.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 80.1840 / max 666.7063, expressed in 1827 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182970	46.3371	1823
182967	30.1273	1818
182968	2.6305	1479
182969	1.0891	803

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	98.90	gold quality
right adrenal gland	UBERON:0001233	98.76	gold quality
right adrenal gland cortex	UBERON:0035827	98.70	gold quality
left adrenal gland	UBERON:0001234	98.69	gold quality
left adrenal gland cortex	UBERON:0035825	98.66	gold quality
oral cavity	UBERON:0000167	98.57	gold quality
adrenal cortex	UBERON:0001235	98.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.49	gold quality
adult organism	UBERON:0007023	98.48	gold quality
skin of leg	UBERON:0001511	98.45	gold quality
apex of heart	UBERON:0002098	98.41	gold quality
body of stomach	UBERON:0001161	98.38	gold quality
mucosa of stomach	UBERON:0001199	98.38	gold quality
skin of abdomen	UBERON:0001416	98.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.36	gold quality
monocyte	CL:0000576	98.33	gold quality
adrenal gland	UBERON:0002369	98.29	gold quality
lower esophagus	UBERON:0013473	98.29	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.29	gold quality
caudate nucleus	UBERON:0001873	98.28	gold quality
transverse colon	UBERON:0001157	98.27	gold quality
popliteal artery	UBERON:0002250	98.27	gold quality
tibial artery	UBERON:0007610	98.27	gold quality
granulocyte	CL:0000094	98.24	gold quality
artery	UBERON:0001637	98.24	gold quality
left coronary artery	UBERON:0001626	98.23	gold quality
nucleus accumbens	UBERON:0001882	98.23	gold quality
zone of skin	UBERON:0000014	98.22	gold quality
jejunal mucosa	UBERON:0000399	98.22	gold quality
right lobe of thyroid gland	UBERON:0001119	98.22	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

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• study found the ESCRT-III proteins CHMP2A & CHMP3 could assemble in vitro into helical tubular structures that expose their membrane interaction sites on the outside of the tubule; VPS4 could bind on the inside of the tubule & disassemble the tubes (PMID:18687924)
• Data show that gamma2-adaptin in MVB sorting specifically interacts with the ESCRT subunits Vps28 and CHMP2A. (PMID:20708039)
• CHMP2A is the ESCRT-III component that regulates phagophore closure (PMID:30030437)
• Targeting the ESCRT-III component CHMP2A for noncanonical Caspase-8 activation on autophagosomal membranes. (PMID:32807832)
• The ESCRT-III isoforms CHMP2A and CHMP2B display different effects on membranes upon polymerization. (PMID:33832485)
• PTEN alleviates maladaptive repair of renal tubular epithelial cells by restoring CHMP2A-mediated phagosome closure. (PMID:34789720)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	chmp2a	ENSDARG00000053979
mus_musculus	Chmp2a	ENSMUSG00000033916
drosophila_melanogaster	Vps2	FBGN0039402
caenorhabditis_elegans		WBGENE00012903

Paralogs (4): CHMP2B (ENSG00000083937), CHMP3 (ENSG00000115561), CHMP1A (ENSG00000131165), CHMP1B (ENSG00000255112)

Protein

Protein identifiers

Charged multivesicular body protein 2a — O43633 (reviewed: O43633)

Alternative names: Chromatin-modifying protein 2a, Putative breast adenocarcinoma marker BC-2, Vacuolar protein sorting-associated protein 2-1

All UniProt accessions (4): O43633, M0QXX8, M0R1L7, M0R1T5

UniProt curated annotations — full annotation on UniProt →

Function. Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis. Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Recruited to the reforming nuclear envelope (NE) during anaphase by LEMD2. ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. (Microbial infection) The ESCRT machinery functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Involved in HIV-1 p6- and p9-dependent virus release.

Subunit / interactions. Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. In vitro, heteromerizes with CHMP3 (but not CHMP4) to form helical tubular structures that expose membrane-interacting sites on the outside whereas VPS4B can associate on the inside of the tubule. Interacts with CHMP1B, CHMP2B, CHMP3, CHMP4A, CHMP4B, CHMP4C and CHMP5. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with MITD1. Interacts with VTA1; the interaction probably involves the open conformation of CHMP2A.

Subcellular location. Late endosome membrane. Nucleus envelope.

Post-translational modifications. ISGylated in a CHMP5-dependent manner. Isgylation weakens and inhibits its interactions with VPS4A and VTA1 respectively.

Domain organisation. The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components.

Miscellaneous. Its overexpression strongly inhibits HIV-1 release.

Similarity. Belongs to the SNF7 family.

RefSeq proteins (2): NP_055268, NP_940818 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005024	Snf7_fam	Family

Pfam: PF03357

UniProt features (19 total): modified residue 6, mutagenesis site 4, helix 3, region of interest 2, coiled-coil region 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7ZCG	ELECTRON MICROSCOPY	3.3
7ZCH	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43633-F1	76.41	0.33

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 (6): 190, 203, 1, 184, 185, 188

Mutagenesis-validated functional residues (4):

Position	Phenotype
169–170	diminishes interaction with vps4b.
181–222	membrane association; releases autoinhibition.
216	diminishes interaction with vta1.
217–222	abolishes interaction with vta1.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-162588	Budding and maturation of HIV virion
R-HSA-1632852	Macroautophagy
R-HSA-432720	Lysosome Vesicle Biogenesis
R-HSA-5620971	Pyroptosis
R-HSA-917729	Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-9610379	HCMV Late Events
R-HSA-9615710	Late endosomal microautophagy
R-HSA-9668328	Sealing of the nuclear envelope (NE) by ESCRT-III
R-HSA-9679504	Translation of Replicase and Assembly of the Replication Transcription Complex
R-HSA-9694676	Translation of Replicase and Assembly of the Replication Transcription Complex

MSigDB gene sets: 318 (showing top): GOBP_MITOTIC_CYTOKINESIS, REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, GOBP_CHROMOSOME_ORGANIZATION, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, GOBP_LYSOSOMAL_TRANSPORT, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, YANG_BREAST_CANCER_ESR1_LASER_UP, GOBP_VESICLE_LOCALIZATION, GOBP_MEMBRANE_BIOGENESIS, GOCC_VACUOLAR_MEMBRANE, MODULE_151, GOBP_VESICLE_ORGANIZATION, ENK_UV_RESPONSE_KERATINOCYTE_UP

GO Biological Process (32): plasma membrane repair (GO:0001778), autophagy (GO:0006914), nucleus organization (GO:0006997), mitotic metaphase chromosome alignment (GO:0007080), membrane invagination (GO:0010324), exit from mitosis (GO:0010458), regulation of centrosome duplication (GO:0010824), protein transport (GO:0015031), macroautophagy (GO:0016236), viral release from host cell (GO:0019076), nuclear membrane reassembly (GO:0031468), endosome transport via multivesicular body sorting pathway (GO:0032509), multivesicular body assembly (GO:0036258), viral budding via host ESCRT complex (GO:0039702), ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162), establishment of protein localization (GO:0045184), late endosome to vacuole transport (GO:0045324), viral budding from plasma membrane (GO:0046761), protein polymerization (GO:0051258), protein homooligomerization (GO:0051260), vesicle fusion with vacuole (GO:0051469), multivesicular body-lysosome fusion (GO:0061763), midbody abscission (GO:0061952), multivesicular body sorting pathway (GO:0071985), membrane fission (GO:0090148), autophagosome maturation (GO:0097352), regulation of mitotic spindle assembly (GO:1901673), late endosome to lysosome transport (GO:1902774), positive regulation of exosomal secretion (GO:1903543), negative regulation of centriole elongation (GO:1903723), ESCRT III complex disassembly (GO:1904903), vacuolar transport (GO:0007034)

GO Molecular Function (3): protein domain specific binding (GO:0019904), phosphatidylcholine binding (GO:0031210), protein binding (GO:0005515)

GO Cellular Component (20): autophagosome membrane (GO:0000421), kinetochore (GO:0000776), chromatin (GO:0000785), ESCRT III complex (GO:0000815), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), lysosomal membrane (GO:0005765), multivesicular body (GO:0005771), kinetochore microtubule (GO:0005828), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), membrane coat (GO:0030117), midbody (GO:0030496), multivesicular body membrane (GO:0032585), extracellular exosome (GO:0070062), amphisome membrane (GO:1904930), nucleus (GO:0005634), endosome (GO:0005768), late endosome membrane (GO:0031902)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Autophagy	2
Late Phase of HIV Life Cycle	1
trans-Golgi Network Vesicle Budding	1
Regulated Necrosis	1
Membrane Trafficking	1
HCMV Infection	1
Nuclear Envelope (NE) Reassembly	1
SARS-CoV-1 Infection	1
Early SARS-CoV-2 Infection Events	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
multivesicular body sorting pathway	2
viral budding	2
endosome membrane	2
membrane protein complex	2
endomembrane system	2
late endosome	2
cytoplasm	2
plasma membrane organization	1
wound healing	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
organelle organization	1
mitotic sister chromatid segregation	1
mitotic cell cycle	1
metaphase chromosome alignment	1
mitotic cell cycle process	1
membrane organization	1
mitotic cell cycle phase transition	1
mitotic nuclear division	1
regulation of centrosome cycle	1
centrosome duplication	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
autophagosome assembly	1
autophagy	1
viral process	1
viral life cycle	1
exit from host cell	1
membrane assembly	1
nuclear membrane organization	1
endosomal transport	1
multivesicular body organization	1
organelle assembly	1
ubiquitin-dependent protein catabolic process	1
protein catabolic process in the vacuole	1
establishment of localization	1
vacuolar transport	1

Protein interactions and networks

STRING

1750 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHMP2A	CHMP6	Q96FZ7	999
CHMP2A	CHMP4A	Q9BY43	998
CHMP2A	A0A140T963	A0A140T963	992
CHMP2A	CHMP3	Q9Y3E7	991
CHMP2A	VPS4B	O75351	980
CHMP2A	VPS4A	Q9UN37	964
CHMP2A	CHMP5	Q9NZZ3	954
CHMP2A	IST1	P53990	949
CHMP2A	VPS25	Q9BRG1	946
CHMP2A	CHMP1A	Q9HD42	940
CHMP2A	STAMBP	O95630	922
CHMP2A	CHMP4C	Q96CF2	905
CHMP2A	VPS8	Q8N3P4	889
CHMP2A	CHMP7	Q8WUX9	879
CHMP2A	MITD1	Q8WV92	876

IntAct

135 interactions, top by confidence:

A	B	Type	Score
MITD1	CHMP2A	psi-mi:“MI:0915”(physical association)	0.730
CHMP2A	MITD1	psi-mi:“MI:0403”(colocalization)	0.730
CHMP2A	MITD1	psi-mi:“MI:0915”(physical association)	0.730
STAMBP	PIK3C2A	psi-mi:“MI:0914”(association)	0.730
CHMP3	CHMP2A	psi-mi:“MI:0570”(protein cleavage)	0.670
CHMP2A	CHMP3	psi-mi:“MI:0407”(direct interaction)	0.670
CHMP2A	CHMP3	psi-mi:“MI:0915”(physical association)	0.670
CHMP2A	STAMBP	psi-mi:“MI:0915”(physical association)	0.660
CHMP4B	CHMP2A	psi-mi:“MI:0407”(direct interaction)	0.590
DOCK8	CHMP2A	psi-mi:“MI:0915”(physical association)	0.560
CHMP2A	HTT	psi-mi:“MI:0915”(physical association)	0.560
CHMP2A	VPS4A	psi-mi:“MI:0915”(physical association)	0.550
VPS4A	CHMP2A	psi-mi:“MI:0914”(association)	0.550
CHMP2A	DECR1	psi-mi:“MI:0914”(association)	0.530
	NHERF1	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
CLTB	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
SIX2	EYA2	psi-mi:“MI:0914”(association)	0.530
OSTF1	CHMP2A	psi-mi:“MI:0914”(association)	0.530

BioGRID (167): DOCK8 (Two-hybrid), CHMP2A (Two-hybrid), CHMP2A (Reconstituted Complex), CHMP2A (Co-localization), CHMP2A (Co-fractionation), CHMP2A (Co-fractionation), CHMP2A (Co-fractionation), CHMP2A (Co-fractionation), EIF4EBP1 (Co-fractionation), PARVA (Co-fractionation), CHMP2A (Affinity Capture-MS), CHMP2A (Affinity Capture-MS), CHMP2A (Affinity Capture-MS), CHMP2A (Affinity Capture-MS), CHMP2A (Affinity Capture-MS)

ESM2 similar proteins: A2VDY3, O14177, O43633, O74422, P0C0A3, P0C149, P0CR54, P0CR55, P36108, P59074, Q4R574, Q503V0, Q54JK4, Q569C1, Q58CS7, Q5ABD0, Q5B5E0, Q5BKM3, Q5R861, Q5RAU5, Q5ZHN1, Q5ZL55, Q6BSH2, Q6CBS3, Q6DFS6, Q6GMA4, Q6GNN8, Q6IP52, Q6NRM7, Q6NU11, Q6NY88, Q753W3, Q7ZW25, Q86H98, Q871Y8, Q8CGS4, Q8GXN6, Q8T0Q4, Q96CF2, Q96FZ7

Diamond homologs: O14177, O43633, P36108, Q0WTY4, Q54DB1, Q54GK9, Q5ZHN1, Q6DFS6, Q6IP52, Q6NVL7, Q7ZW25, Q8BJF9, Q941D5, Q9DB34, Q9SKI2, Q3SX42, Q54P63, Q5F3A2, Q5RAV2, Q66IV6, Q6NXD2, Q7SYR0, Q9UQN3, Q6NY88, Q4R574, Q58CS7, Q5RAU5, Q8CGS4, Q9CQ10, Q9Y3E7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CHMP2A	up-regulates	Viral_budding
VPS4A	“up-regulates activity”	CHMP2A	cleavage
CHMP2A	“form complex”	ESCRT-III	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 120 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
Budding and maturation of HIV virion	5	27.2×	4e-04
Endosomal Sorting Complex Required For Transport (ESCRT)	5	24.6×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
multivesicular body assembly	6	31.0×	3e-05
membrane fission	5	20.1×	8e-04
mitotic cytokinesis	6	15.2×	8e-04
macroautophagy	6	14.2×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

342 predictions. Top by Δscore:

Variant	Effect	Δscore
19:58551904:A:AC	donor_gain	1.0000
19:58551905:C:CC	donor_gain	1.0000
19:58551905:CT:C	donor_gain	1.0000
19:58551905:CTCGA:C	donor_gain	1.0000
19:58551963:CATCA:C	acceptor_gain	1.0000
19:58551965:TCA:T	acceptor_gain	1.0000
19:58551966:CA:C	acceptor_gain	1.0000
19:58551966:CAC:C	acceptor_gain	1.0000
19:58551968:C:A	acceptor_loss	1.0000
19:58551968:C:CC	acceptor_gain	1.0000
19:58551969:T:C	acceptor_loss	1.0000
19:58552050:CATAC:C	donor_loss	1.0000
19:58552052:TACC:T	donor_loss	1.0000
19:58552053:ACCTC:A	donor_loss	1.0000
19:58552054:C:CT	donor_loss	1.0000
19:58552054:CCT:C	donor_gain	1.0000
19:58552058:T:A	donor_gain	1.0000
19:58552070:T:TA	donor_gain	1.0000
19:58552181:TTCAG:T	acceptor_gain	1.0000
19:58552182:TCAG:T	acceptor_gain	1.0000
19:58552183:CAG:C	acceptor_gain	1.0000
19:58552183:CAGC:C	acceptor_gain	1.0000
19:58552184:AG:A	acceptor_gain	1.0000
19:58552186:C:CC	acceptor_gain	1.0000
19:58552253:GCGCA:G	donor_loss	1.0000
19:58552254:CGCA:C	donor_loss	1.0000
19:58552255:GCAC:G	donor_loss	1.0000
19:58552256:CACCT:C	donor_loss	1.0000
19:58552257:ACCT:A	donor_loss	1.0000
19:58552258:C:CG	donor_loss	1.0000

AlphaMissense

1474 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:58552137:C:G	A133P	1.000
19:58552147:A:C	F129L	1.000
19:58552147:A:T	F129L	1.000
19:58552149:A:G	F129L	1.000
19:58552303:C:G	A102P	1.000
19:58552309:C:G	A100P	1.000
19:58552324:A:G	S95P	1.000
19:58552329:A:G	L93P	1.000
19:58552344:A:G	L88P	1.000
19:58552348:A:G	S87P	1.000
19:58552354:C:G	A85P	1.000
19:58551671:A:G	L216P	0.999
19:58551944:A:G	L168P	0.999
19:58552094:A:T	I147N	0.999
19:58552148:A:C	F129C	0.999
19:58552148:A:G	F129S	0.999
19:58552281:G:T	A109D	0.999
19:58552282:C:G	A109P	0.999
19:58552290:A:T	V106D	0.999
19:58552299:A:T	M103K	0.999
19:58552302:G:T	A102D	0.999
19:58552366:C:G	A81P	0.999
19:58552368:C:G	R80P	0.999
19:58552398:C:G	R70P	0.999
19:58552404:C:G	R68P	0.999
19:58552419:G:T	A63E	0.999
19:58552420:C:G	A63P	0.999
19:58552431:A:T	V59D	0.999
19:58554115:C:G	R33P	0.999
19:58554121:C:G	R31P	0.999

dbSNP variants (sampled 300 via entrez): RS1000133837 (19:58555279 C>A), RS1000273072 (19:58551367 A>G), RS1002136063 (19:58553557 G>C), RS1002232576 (19:58553818 C>A), RS1002285561 (19:58555552 T>A), RS1002316712 (19:58555386 T>C), RS1002803841 (19:58551327 A>G), RS1002895588 (19:58551530 C>G,T), RS1003004281 (19:58553116 G>A), RS1003015512 (19:58555924 A>T), RS1003269139 (19:58554657 C>A,T), RS1003342932 (19:58554465 C>T), RS1004152273 (19:58555756 T>G), RS1004245591 (19:58555876 C>A,T), RS1005543809 (19:58554726 G>A)

Disease associations

OMIM: gene MIM:610893 | 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
GCST90002390_664	Mean corpuscular hemoglobin	8.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	5
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
K 7174	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	increases expression	1
Estradiol	decreases expression	1
Folic Acid	decreases expression	1
Ivermectin	decreases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	increases expression	1
Cyclosporine	increases expression	1
Sodium Selenite	increases expression	1
tert-Butylhydroperoxide	decreases expression	1

Clinical trials (associated diseases)

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