ABCB10

Summary

ABCB10 (ATP binding cassette subfamily B member 10, HGNC:41) is a protein-coding gene on chromosome 1q42.13, encoding ATP-binding cassette sub-family B member 10, mitochondrial (Q9NRK6). ATP-dependent transporter located in the mitochondrial inner membrane that catalyzes the export of biliverdin from the mitochondrial matrix, and plays a crucial role in hemoglobin synthesis and antioxidative stress.

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown.

Source: NCBI Gene 23456 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 156 total — 20 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_012089

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:41
Approved symbol	ABCB10
Name	ATP binding cassette subfamily B member 10
Location	1q42.13
Locus type	gene with protein product
Status	Approved
Aliases	EST20237, M-ABC2, MTABC2
Ensembl gene	ENSG00000135776
Ensembl biotype	protein_coding
OMIM	605454
Entrez	23456

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000344517, ENST00000486755, ENST00000498158, ENST00000911720, ENST00000946244, ENST00000946245, ENST00000946246, ENST00000946247, ENST00000946248, ENST00000946249, ENST00000946250

RefSeq mRNA: 1 — MANE Select: NM_012089 NM_012089

CCDS: CCDS1580

Canonical transcript exons

ENST00000344517 — 13 exons

Exon	Start	End
ENSE00000921351	229542237	229542371
ENSE00000921352	229547499	229547701
ENSE00000921353	229549234	229549434
ENSE00001070011	229521592	229521635
ENSE00001070012	229540606	229540752
ENSE00001070014	229525936	229526116
ENSE00001070015	229531636	229531731
ENSE00001070017	229518841	229518875
ENSE00001070019	229539456	229539591
ENSE00001365062	229516582	229518410
ENSE00001376886	229558136	229558707
ENSE00003583549	229530199	229530408
ENSE00003683238	229527229	229527308

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 97.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.4264 / max 580.0608, expressed in 1775 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17920	10.0954	1752
17921	0.8925	507
17922	0.4385	208

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	97.35	gold quality
epithelial cell of pancreas	CL:0000083	93.55	gold quality
bone marrow	UBERON:0002371	92.90	gold quality
jejunal mucosa	UBERON:0000399	90.73	gold quality
bone marrow cell	CL:0002092	90.41	gold quality
ileal mucosa	UBERON:0000331	89.70	gold quality
tibialis anterior	UBERON:0001385	89.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.51	gold quality
bronchial epithelial cell	CL:0002328	87.47	gold quality
epithelium of bronchus	UBERON:0002031	87.14	gold quality
deltoid	UBERON:0001476	87.13	silver quality
bronchus	UBERON:0002185	86.32	gold quality
monocyte	CL:0000576	86.27	gold quality
jejunum	UBERON:0002115	86.13	gold quality
leukocyte	CL:0000738	85.93	gold quality
duodenum	UBERON:0002114	85.52	gold quality
skin of hip	UBERON:0001554	84.68	gold quality
gastrocnemius	UBERON:0001388	84.41	gold quality
mucosa of paranasal sinus	UBERON:0005030	84.18	gold quality
muscle of leg	UBERON:0001383	84.17	gold quality
skeletal muscle tissue	UBERON:0001134	84.14	gold quality
popliteal artery	UBERON:0002250	83.91	gold quality
tibial artery	UBERON:0007610	83.89	gold quality
rectum	UBERON:0001052	83.85	gold quality
upper leg skin	UBERON:0004262	83.47	gold quality
colonic mucosa	UBERON:0000317	83.41	gold quality
mucosa of sigmoid colon	UBERON:0004993	83.01	gold quality
muscle tissue	UBERON:0002385	82.92	gold quality
aorta	UBERON:0000947	82.91	gold quality
right coronary artery	UBERON:0001625	82.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	8.86
E-ANND-3	yes	7.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

122 targeting ABCB10, 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-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-95-5P	99.89	72.17	3973

Literature-anchored findings (GeneRIF, showing 18)

• study of ABCB10 targeting, import, and dimerization (PMID:15215243)
• mutations in ABCB8 and ABCB10 is not associated with acute myeloid leukemia. (PMID:19151771)
• Human mitochondrial ATP-binding cassette transporter ABCB10 is required for efficient red blood cell development. (PMID:22085049)
• ABCB10 is required for primitive erythropoiesis and to protect from oxidative stress associated with cardiac ischemia-reperfusion in mice. Antioxidants can rescue the defects associated with ABCB10 loss-of-function in mice. (PMID:22884976)
• Data indicate that ABCB10 may exist in an open-inwards conformation when nucleotide is bound. (PMID:23716676)
• ABCB10 is not a heme exporter but is required for the early mitochondrial steps of heme biosynthesis. (PMID:23720443)
• ABCB10 is involved in unfolded protein response signaling pathway, although it probably does not participate in peptide export from mitochondria. (PMID:28315685)
• Data suggest that ABCB10 silencing results in alteration in heme biosynthesis transcriptional profile due to repression by transcriptional regulator BACH1. (ABCB10 = ATP-binding cassette, sub-family B [MDR-TAP], member 10; BACH1 = BTB and CNC homology 1, basic leucine zipper transcription factor 1) (PMID:28808058)
• ABCB7 and ABCB10 homodimers form an architecturally defined molecular complex required for heme biosynthesis (PMID:30765471)
• Mutant HTT inhibits the mitochondrial unfolded protein response by impairing ABCB10 mRNA stability. (PMID:30802639)
• Knockdown of circ-ABCB10 promotes sensitivity of lung cancer cells to cisplatin via miR-556-3p/AK4 axis. (PMID:31931771)
• Circ-ABCB10 accelerates the malignant progression of oral squamous cell carcinoma by absorbing miRNA-145-5p. (PMID:32016969)
• Circular RNA-ABCB10 suppresses hepatocellular carcinoma progression through upregulating NRP1/ABL2 via sponging miR-340-5p/miR-452-5p. (PMID:32196586)
• CircABCB10 silencing inhibits the cell ferroptosis and apoptosis by regulating the miR-326/CCL5 axis in rectal cancer. (PMID:32567935)
• ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species. (PMID:34597626)
• CircRNA-ABCB10 promotes gastric cancer progression by sponging miR-1915-3p to upregulate RaC1. (PMID:34987010)
• Loss of the mitochondrial protein Abcb10 results in altered arginine metabolism in MEL and K562 cells and nutrient stress signaling through ATF4. (PMID:37269954)
• Cardiomyocyte-specific deletion of the mitochondrial transporter Abcb10 causes cardiac dysfunction via lysosomal-mediated ferroptosis. (PMID:38655715)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcb10	ENSDARG00000061591
mus_musculus	Abcb10	ENSMUSG00000031974
rattus_norvegicus	Abcb10	ENSRNOG00000017993
drosophila_melanogaster	CG3156	FBGN0023536
caenorhabditis_elegans		WBGENE00001817
caenorhabditis_elegans		WBGENE00001818
caenorhabditis_elegans		WBGENE00003995
caenorhabditis_elegans		WBGENE00004000
caenorhabditis_elegans		WBGENE00004001
caenorhabditis_elegans		WBGENE00004002
caenorhabditis_elegans		WBGENE00004003
caenorhabditis_elegans		WBGENE00004006
caenorhabditis_elegans		WBGENE00004008

Paralogs (10): ABCB5 (ENSG00000004846), ABCB4 (ENSG00000005471), ABCB11 (ENSG00000073734), ABCB1 (ENSG00000085563), ABCB6 (ENSG00000115657), ABCB7 (ENSG00000131269), ABCB9 (ENSG00000150967), TAP1 (ENSG00000168394), ABCB8 (ENSG00000197150), TAP2 (ENSG00000204267)

Protein

Protein identifiers

ATP-binding cassette sub-family B member 10, mitochondrial — Q9NRK6 (reviewed: Q9NRK6)

Alternative names: ABC-mitochondrial erythroid protein, ATP-binding cassette transporter 10, Mitochondrial ATP-binding cassette 2

All UniProt accessions (1): Q9NRK6

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent transporter located in the mitochondrial inner membrane that catalyzes the export of biliverdin from the mitochondrial matrix, and plays a crucial role in hemoglobin synthesis and antioxidative stress. Participates in the early step of the heme biosynthetic process during insertion of iron into protoporphyrin IX (PPIX). Involved in the stabilization of the iron transporter mitoferrin-1/SLC25A37. In addition may be involved in mitochondrial unfolded protein response (UPRmt) signaling pathway, although ABCB10 probably does not participate in peptide export from mitochondria.

Subunit / interactions. Homodimer or homooligomer. Interacts with PAAT; this interaction regulates ABCB10. Interacts with SLC25A37; this interaction stabilizes SLC25A37 and enhances the function of SLC25A37 to import mitochondrial iron during erythroid differentiation. Interacts with FECH; this interaction may allow the formation of an oligomeric complex with SLC25A37. Forms a complex with ABCB7 and FECH, where a dimeric FECH bridges ABCB7 and ABCB10 homodimers; this complex may be required for cellular iron homeostasis, mitochondrial function and heme biosynthesis. Interacts with MUL1/MAPL.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Ubiquitous. Highly expressed in bone marrow, expressed at intermediate to high levels in skeletal muscle, small intestine, thyroid, heart, brain, placenta, liver, pancreas, prostate, testis, ovary, leukocyte, stomach, spinal cord, lymph node, trachea and adrenal gland, and low levels are found in lung, kidney, spleen, thymus and colon.

Activity regulation. Cholesterol promotes the ATPase activity of ABCB10 in a dose-dependent manner.

Similarity. Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) subfamily.

RefSeq proteins (1): NP_036221* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR011527	ABC1_TM_dom	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036640	ABC1_TM_sf	Homologous_superfamily
IPR039421	Type_1_exporter	Family

Pfam: PF00005, PF00664

Enzyme classification (BRENDA):

• EC 7.4.2.5 — bacterial ABC-type protein transporter (BRENDA: 33 organisms, 105 substrates, 44 inhibitors, 13 Km, 10 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.05–2.33	11
RRYNASTEL	0.0006	1
RRYQKSTEL	0.0002	1

Catalyzed reactions (Rhea), 1 shown:

• biliverdin IXalpha(in) + ATP + H2O = biliverdin IXalpha(out) + ADP + phosphate + H(+) (RHEA:82359)

UniProt features (87 total): helix 23, strand 14, mutagenesis site 11, binding site 8, topological domain 7, transmembrane region 6, sequence conflict 6, sequence variant 4, domain 2, modified residue 2, turn 2, transit peptide 1, chain 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
3ZDQ	X-RAY DIFFRACTION	2.85
4AYT	X-RAY DIFFRACTION	2.85
7Y48	ELECTRON MICROSCOPY	2.85
4AYX	X-RAY DIFFRACTION	2.9
4AYW	X-RAY DIFFRACTION	3.3
7Y49	ELECTRON MICROSCOPY	3.67

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRK6-F1	81.37	0.71

Functional residue map

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

Ligand- & substrate-binding residues (8): 402; 530; 532; 533; 534; 534; 535; 658

Post-translational modifications (2): 265, 582

Mutagenesis-validated functional residues (11):

Position	Phenotype
215	does not affect atpase activity; when associated with l-224 and g-582. activated by zn (ii) mesoporphyrin; when associat
224	does not affect atpase activity; when associated with s-215 and g-582. activated by zn (ii) mesoporphyrin; when associat
229	does not affect atpase activity in the absence or presence of biliverdin. no increased atpase activity in the presence o
398	no increased atpase activity in the presence of biliverdin. no increased atpase activity in the presence of biliverdin;
407	increased atpase activity in the absence of biliverdin compared to wt. no increased atpase activity in the presence of b
533	increases hemoglobin biosynthetic process.
582	does not affect atpase activity; when associated with s-215 and l-224. activated by zn (ii) mesoporphyrin; when associat
635	does not rescue hemoglobin and heme biosynthetic process.
638	does not rescue hemoglobin and heme biosynthetic process.
658	does not rescue hemoglobin and heme biosynthetic process.
659	does not rescue hemoglobin and heme biosynthetic process.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1369007	Mitochondrial ABC transporters
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport

MSigDB gene sets: 263 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_HEMOGLOBIN_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, MORF_MSH3, GOBP_MYELOID_CELL_DEVELOPMENT, MORF_BRCA1, GOBP_ERYTHROCYTE_HOMEOSTASIS, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_TETRAPYRROLE_BIOSYNTHETIC_PROCESS, RIZKI_TUMOR_INVASIVENESS_3D_DN, MORF_RAD51L3, GOBP_MITOCHONDRIAL_TRANSPORT

GO Biological Process (10): heme biosynthetic process (GO:0006783), mitochondrial transport (GO:0006839), mitochondrial unfolded protein response (GO:0034514), positive regulation of erythrocyte differentiation (GO:0045648), positive regulation of hemoglobin biosynthetic process (GO:0046985), erythrocyte development (GO:0048821), positive regulation of heme biosynthetic process (GO:0070455), export from the mitochondrion (GO:0170037), transmembrane transport (GO:0055085), mitochondrial transmembrane transport (GO:1990542)

GO Molecular Function (8): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), ABC-type transporter activity (GO:0140359), nucleotide binding (GO:0000166), protein binding (GO:0005515), identical protein binding (GO:0042802)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
ABC-family protein mediated transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
erythrocyte differentiation	2
porphyrin-containing compound biosynthetic process	1
heme metabolic process	1
pigment biosynthetic process	1
intracellular transport	1
cellular response to unfolded protein	1
positive regulation of myeloid cell differentiation	1
regulation of erythrocyte differentiation	1
positive regulation of macromolecule biosynthetic process	1
hemoglobin biosynthetic process	1
regulation of hemoglobin biosynthetic process	1
positive regulation of protein metabolic process	1
myeloid cell development	1
heme biosynthetic process	1
regulation of heme biosynthetic process	1
positive regulation of tetrapyrrole biosynthetic process	1
intercellular transport	1
mitochondrial transmembrane transport	1
transport	1
cellular process	1
mitochondrial transport	1
transmembrane transport	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
identical protein binding	1
protein dimerization activity	1
cation binding	1
ATPase-coupled transmembrane transporter activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
protein binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
mitochondrial envelope	1

Protein interactions and networks

STRING

1664 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCB10	SLC25A37	Q9NYZ2	999
ABCB10	FECH	P22830	994
ABCB10	SLC25A28	Q96A46	982
ABCB10	TMEM14C	Q9P0S9	709
ABCB10	ALAS2	P22557	708
ABCB10	PPOX	P50336	689
ABCB10	FLVCR1	Q9Y5Y0	649
ABCB10	ABCB7	O75027	577
ABCB10	TFRC	P02786	553
ABCB10	STEAP3	Q658P3	552
ABCB10	FLVCR2	Q9UPI3	541
ABCB10	ABCE1	P61221	540
ABCB10	SLC25A38	Q96DW6	506
ABCB10	SLC40A1	Q9NP59	492
ABCB10	CPOX	P36551	480

IntAct

107 interactions, top by confidence:

A	B	Type	Score
SNX4	SNX30	psi-mi:“MI:0914”(association)	0.830
IFT43	TULP3	psi-mi:“MI:0914”(association)	0.790
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
ABCB7	FECH	psi-mi:“MI:0915”(physical association)	0.710
ABCB10	FECH	psi-mi:“MI:0407”(direct interaction)	0.670
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
MIA2	RGPD8	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
KCNA5	TMEM223	psi-mi:“MI:0914”(association)	0.530
MIA2	RGPD3	psi-mi:“MI:0914”(association)	0.530
DKK3	NME4	psi-mi:“MI:0914”(association)	0.530
RNF170	ERLIN1	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
SGSM1	CETN2	psi-mi:“MI:0914”(association)	0.530
SLC24A5	TMEM186	psi-mi:“MI:0914”(association)	0.530
CENPK	DHRS12	psi-mi:“MI:0914”(association)	0.530

BioGRID (114): ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Proximity Label-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), ABCB10 (Affinity Capture-MS)

ESM2 similar proteins: A0A125QXJ1, B2GUP8, B5X0E4, B8K1W2, E7F6F7, F1M3J4, H2LNR5, O14286, O70127, O70595, O75027, O95342, P0CL92, P0CL93, P21958, P33310, P36370, P36371, P36372, Q00449, Q0WML0, Q2SIN5, Q4WPP6, Q56A55, Q5B1Q2, Q5RFQ9, Q5RKI8, Q61102, Q6YUU5, Q704E8, Q751N2, Q8LPQ6, Q8RY46, Q9CXJ4, Q9DC29, Q9FNU2, Q9FWX7, Q9FWX8, Q9JI39, Q9JJ59

Diamond homologs: A0A059JJ46, A0A059JK44, A0A095C325, A0A0D1BUH6, A0A1U8QG99, A0A1U9YI12, A0A2P1AAV1, A0A348AXX9, A1KF14, B2GUP8, B2KWH4, B5X0E4, B8K1W2, F2PRR1, F2Q5G0, F2RP52, F2RPA4, F2SQT8, F2T1C4, G5EG61, H6TB12, J9VF33, K3VYH8, O53645, O70127, O80725, O95342, P06795, P08183, P0CU83, P16875, P16876, P16877, P21439, P21440, P21447, P21448, P21449, P23174, P34712

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	20
Likely pathogenic	2
Uncertain significance	106
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (22)

Variant ID	HGVS	Classification
147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	Pathogenic
1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	Pathogenic
154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	Pathogenic
155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	Pathogenic
2425915	NC_000001.10:g.(?229567246)(231413288_?)del	Pathogenic
2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	Pathogenic
3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	Pathogenic
394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	Pathogenic
441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	Pathogenic
565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	Pathogenic
565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	Pathogenic
57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	Pathogenic
58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	Pathogenic
58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	Pathogenic
58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	Pathogenic
685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	Pathogenic
814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	Pathogenic
814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	Pathogenic
814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	Pathogenic
816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	Pathogenic
1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	Likely pathogenic
1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	Likely pathogenic

SpliceAI

2661 predictions. Top by Δscore:

Variant	Effect	Δscore
1:229518406:GCGCA:G	acceptor_gain	1.0000
1:229518407:CGCA:C	acceptor_gain	1.0000
1:229518407:CGCAC:C	acceptor_gain	1.0000
1:229518409:CA:C	acceptor_gain	1.0000
1:229518409:CACTG:C	acceptor_loss	1.0000
1:229518410:ACT:A	acceptor_loss	1.0000
1:229518411:C:CC	acceptor_gain	1.0000
1:229518415:C:CT	acceptor_gain	1.0000
1:229518423:C:CT	acceptor_gain	1.0000
1:229518425:C:CT	acceptor_gain	1.0000
1:229518427:C:CT	acceptor_gain	1.0000
1:229518429:C:CT	acceptor_gain	1.0000
1:229521588:TTA:T	donor_loss	1.0000
1:229521589:TACCT:T	donor_loss	1.0000
1:229521590:A:AG	donor_loss	1.0000
1:229521591:C:CT	donor_loss	1.0000
1:229525950:C:CA	donor_gain	1.0000
1:229526087:A:T	acceptor_gain	1.0000
1:229527308:CCT:C	acceptor_gain	1.0000
1:229527310:T:C	acceptor_gain	1.0000
1:229527310:T:TC	acceptor_gain	1.0000
1:229538916:G:T	acceptor_gain	1.0000
1:229539512:A:AC	donor_gain	1.0000
1:229539513:C:CC	donor_gain	1.0000
1:229539513:CGGT:C	donor_gain	1.0000
1:229539588:CAGT:C	acceptor_gain	1.0000
1:229539592:C:CC	acceptor_gain	1.0000
1:229540599:TACTT:T	donor_loss	1.0000
1:229540600:ACTT:A	donor_loss	1.0000
1:229540601:CTT:C	donor_loss	1.0000

AlphaMissense

4685 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:229521620:C:G	R641P	0.999
1:229539463:G:C	S444R	0.997
1:229539463:G:T	S444R	0.997
1:229539465:T:G	S444R	0.997
1:229539493:G:C	F434L	0.997
1:229539493:G:T	F434L	0.997
1:229539495:A:G	F434L	0.997
1:229549406:A:C	S182R	0.997
1:229549406:A:T	S182R	0.997
1:229549408:T:G	S182R	0.997
1:229518410:A:C	S662R	0.996
1:229518410:A:T	S662R	0.996
1:229518842:T:G	S662R	0.996
1:229521608:G:T	A645D	0.996
1:229521615:C:G	A643P	0.996
1:229521622:C:A	Q640H	0.996
1:229521622:C:G	Q640H	0.996
1:229526081:G:C	N587K	0.996
1:229526081:G:T	N587K	0.996
1:229521609:C:G	A645P	0.995
1:229527229:C:A	Q575H	0.995
1:229527229:C:G	Q575H	0.995
1:229530257:A:C	S529R	0.995
1:229530257:A:T	S529R	0.995
1:229530259:T:G	S529R	0.995
1:229539546:C:G	G417R	0.995
1:229539546:C:T	G417R	0.995
1:229518402:T:A	D665V	0.994
1:229518850:T:A	E659V	0.994
1:229521605:C:G	R646P	0.994

dbSNP variants (sampled 300 via entrez): RS1000025563 (1:229548253 C>T), RS1000141377 (1:229547682 C>A), RS1000193658 (1:229535160 C>T), RS1000432514 (1:229519388 A>G), RS1000502746 (1:229521726 A>T), RS1000505521 (1:229548681 G>A,T), RS1000531882 (1:229532823 A>T), RS1000538746 (1:229522073 G>T), RS1000655603 (1:229541344 G>A), RS1000705673 (1:229526502 A>C), RS1000772076 (1:229520734 A>G), RS1000998122 (1:229550268 G>A,T), RS1001016260 (1:229546570 C>T), RS1001074266 (1:229539748 T>G), RS1001131687 (1:229546303 A>G)

Disease associations

OMIM: gene MIM:605454 | disease phenotypes: MIM:161800

GenCC curated gene-disease

Mondo (1): congenital myopathy 2a, typical, autosomal dominant (MONDO:0008070)

Orphanet (1): Congenital myopathy with excess of thin filaments (Orphanet:98904)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001980_3	Circulating myeloperoxidase levels (plasma)	1.000000e-06
GCST006867_7	Type 2 diabetes	2.000000e-09
GCST007847_74	Type 2 diabetes	4.000000e-06
GCST009379_9	Type 2 diabetes	3.000000e-14
GCST90002381_19	Eosinophil count	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005243	myeloperoxidase measurement
EFO:0004842	eosinophil count

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C579880	Actin-Accumulation Myopathy (supp.)
C580202	Intranuclear Rod Myopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCB subfamily

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	3
Benzo(a)pyrene	increases expression, increases methylation	2
Tretinoin	decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	increases methylation	1
cupric oxide	decreases expression	1
epigallocatechin gallate	increases expression	1
pinosylvin	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	decreases expression	1
bisphenol S	affects expression	1
NSC 689534	affects binding, decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Calcitriol	decreases expression	1
Cisplatin	affects response to substance	1
Copper	affects binding, decreases expression	1
Doxorubicin	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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