SLC25A31

Summary

SLC25A31 (solute carrier family 25 member 31, HGNC:25319) is a protein-coding gene on chromosome 4q28.1, encoding ADP/ATP translocase 4 (Q9H0C2). ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell.

The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 83447 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_031291

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25319
Approved symbol	SLC25A31
Name	solute carrier family 25 member 31
Location	4q28.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434N1235, ANT4
Ensembl gene	ENSG00000151475
Ensembl biotype	protein_coding
OMIM	610796
Entrez	83447

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000281154

RefSeq mRNA: 2 — MANE Select: NM_031291 NM_001318467, NM_031291

CCDS: CCDS3733

Canonical transcript exons

ENST00000281154 — 6 exons

Exon	Start	End
ENSE00000999807	127730400	127730777
ENSE00000999808	127768752	127768877
ENSE00000999809	127767066	127767220
ENSE00000999810	127744672	127744799
ENSE00000999811	127764243	127764360
ENSE00000999812	127773386	127774292

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 91.03.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1905 / max 194.8687, expressed in 7 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49602	0.1397	6
49600	0.0293	4
49601	0.0136	5
49599	0.0079	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	91.03	gold quality
right testis	UBERON:0004534	89.69	gold quality
left testis	UBERON:0004533	89.38	gold quality
testis	UBERON:0000473	87.94	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.83	gold quality
sperm	CL:0000019	85.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.18	gold quality
male germ cell	CL:0000015	83.90	gold quality
lower lobe of lung	UBERON:0008949	56.49	silver quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
quadriceps femoris	UBERON:0001377	49.09	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
epithelial cell of pancreas	CL:0000083	48.84	silver quality
type B pancreatic cell	CL:0000169	48.83	gold quality
thymus	UBERON:0002370	48.71	silver quality
cerebellar vermis	UBERON:0004720	48.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
oviduct epithelium	UBERON:0004804	48.44	gold quality
vastus lateralis	UBERON:0001379	48.25	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
metanephric glomerulus	UBERON:0004736	47.45	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT3A, DNMT3B

miRNA regulators (miRDB)

66 targeting SLC25A31, 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-656-3P	100.00	72.15	2788
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-4789-3P	99.99	70.75	2484
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-4328	99.57	71.06	4094

Literature-anchored findings (GeneRIF, showing 7)

• The co-localization of SFEC and glycolytic enzymes in the fibrous sheath supports a growing literature that the principal piece of the flagellum is capable of generating and regulating ATP independently from mitochondrial oxidation in the mid-piece. (PMID:17137571)
• Male mice with disruptions of Slc25a31 are sterile and display an early meiotic arrest phenotype. (PMID:19556438)
• data highlight a cytoprotective activity of ANT4, and provide a novel dichotomy in the ANT isoform sub-family with ANT1 and 3 isoforms functioning as pro-apoptotic while ANT2 and 4 isoforms render cells resistant to death inducing stimuli (PMID:20060930)
• data define common and distinct biochemical characteristics of ANT4 in comparison to ANT1, 2 and 3 providing a basis for study of its unique adaptation to germ cells (PMID:21532989)
• Data show the specific role of the ANT4 isoform in spermatozoid bioenergetics. (PMID:21827840)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• Differential Expression of ADP/ATP Carriers as a Biomarker of Metabolic Remodeling and Survival in Kidney Cancers. (PMID:33396658)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Slc25a31	ENSMUSG00000069041
rattus_norvegicus	Slc25a31	ENSRNOG00000038398
drosophila_melanogaster	sesB	FBGN0003360
drosophila_melanogaster	Ant2	FBGN0025111
caenorhabditis_elegans		WBGENE00011105

Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A36 (ENSG00000114120), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A16 (ENSG00000122912), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A37 (ENSG00000147454), SLC25A25 (ENSG00000148339), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)

Protein

Protein identifiers

ADP/ATP translocase 4 — Q9H0C2 (reviewed: Q9H0C2)

Alternative names: ADP,ATP carrier protein 4, Adenine nucleotide translocator 4, Solute carrier family 25 member 31, Sperm flagellar energy carrier protein

All UniProt accessions (1): Q9H0C2

UniProt curated annotations — full annotation on UniProt →

Function. ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell. Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane. Specifically required during spermatogenesis, probably to mediate ADP:ATP exchange in spermatocytes. Large ATP supplies from mitochondria may be critical for normal progression of spermatogenesis during early stages of meiotic prophase I, including DNA double-strand break repair and chromosomal synapsis. In addition to its ADP:ATP antiporter activity, also involved in mitochondrial uncoupling and mitochondrial permeability transition pore (mPTP) activity. Plays a role in mitochondrial uncoupling by acting as a proton transporter: proton transport uncouples the proton flows via the electron transport chain and ATP synthase to reduce the efficiency of ATP production and cause mitochondrial thermogenesis. Proton transporter activity is inhibited by ADP:ATP antiporter activity, suggesting that SLC25A31/ANT4 acts as a master regulator of mitochondrial energy output by maintaining a delicate balance between ATP production (ADP:ATP antiporter activity) and thermogenesis (proton transporter activity). Proton transporter activity requires free fatty acids as cofactor, but does not transport it. Among nucleotides, may also exchange ADP for dATP and dADP. Also plays a key role in mPTP opening, a non-specific pore that enables free passage of the mitochondrial membranes to solutes of up to 1.5 kDa, and which contributes to cell death. It is however unclear if SLC25A31/ANT4 constitutes a pore-forming component of mPTP or regulates it.

Subunit / interactions. Monomer.

Subcellular location. Mitochondrion inner membrane. Membrane. Cell projection. Cilium. Flagellum membrane.

Tissue specificity. Expressed in brain, liver, sperm and testis. In testis, expressed at higher level in spermatocytes, while it is expressed at lower level in spermatogonial cells. Expressed in erythrocytes (at protein level).

Activity regulation. The matrix-open state (m-state) is inhibited by the membrane-permeable bongkrekic acid (BKA). The cytoplasmic-open state (c-state) is inhibited by the membrane-impermeable toxic inhibitor carboxyatractyloside (CATR). Proton transporter activity is inhibited by ADP:ATP antiporter activity.

Domain organisation. The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue.

Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.

RefSeq proteins (2): NP_001305396, NP_112581* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002067	MCP	Family
IPR002113	ADT_euk_type	Family
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily

Pfam: PF00153

Catalyzed reactions (Rhea), 4 shown:

• H(+)(in) = H(+)(out) (RHEA:34979)
• ADP(in) + ATP(out) = ADP(out) + ATP(in) (RHEA:34999)
• dADP(in) + ADP(out) = dADP(out) + ADP(in) (RHEA:72855)
• dATP(out) + ADP(in) = dATP(in) + ADP(out) (RHEA:73699)

UniProt features (23 total): topological domain 7, transmembrane region 6, repeat 3, binding site 3, chain 1, region of interest 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H0C2-F1	89.97	0.67

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 (3): 92; 104; 247

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 150 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, TGCGCANK_UNKNOWN, GOBP_MALE_GAMETE_GENERATION, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_NUCLEOTIDE_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_ORGANELLE_FISSION, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, ATTACAT_MIR3803P, GOBP_NUCLEOTIDE_TRANSMEMBRANE_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, KEGG_HUNTINGTONS_DISEASE, GOBP_ORGANIC_ANION_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE

GO Biological Process (8): male meiosis I (GO:0007141), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), regulation of mitochondrial membrane permeability (GO:0046902), mitochondrial ADP transmembrane transport (GO:0140021), negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029), mitochondrial ATP transmembrane transport (GO:1990544), transmembrane transport (GO:0055085)

GO Molecular Function (3): ATP:ADP antiporter activity (GO:0005471), protein binding (GO:0005515), antiporter activity (GO:0015297)

GO Cellular Component (9): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial permeability transition pore complex (GO:0005757), membrane (GO:0016020), plasma membrane (GO:0005886), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
male gamete generation	2
purine-containing compound transmembrane transport	2
nucleotide transmembrane transport	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
meiosis I	1
male meiotic nuclear division	1
meiotic cell cycle	1
developmental process involved in reproduction	1
cellular developmental process	1
regulation of membrane permeability	1
ADP transport	1
negative regulation of organelle organization	1
negative regulation of mitochondrial membrane permeability	1
mitochondrial outer membrane permeabilization	1
regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	1
negative regulation of apoptotic signaling pathway	1
ATP transport	1
transport	1
cellular process	1
ATP transmembrane transporter activity	1
ADP transmembrane transporter activity	1
antiporter activity	1
binding	1
secondary active transmembrane transporter activity	1
cytoplasm	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrial envelope	1
pore complex	1
mitochondrial protein-containing complex	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

1552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A31	MTCH1	Q9NZJ7	701
SLC25A31	MTCH2	Q9Y6C9	622
SLC25A31	INTU	Q9ULD6	480
SLC25A31	PPIF	P30405	470
SLC25A31	MFSD8	Q8NHS3	465
SLC25A31	MAEL	Q96JY0	432
SLC25A31	HSPA4L	O95757	429
SLC25A31	LARP1B	Q659C4	426
SLC25A31	RTN4RL2	Q86UN3	413
SLC25A31	GPR87	Q9BY21	406
SLC25A31	ATP6V0B	Q99437	406
SLC25A31	SEMA6B	Q9H3T3	405
SLC25A31	PPAT	Q06203	402
SLC25A31	SLC25A53	Q5H9E4	399
SLC25A31	PPID	Q08752	385

IntAct

51 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CHCHD4	SSNA1	psi-mi:“MI:0914”(association)	0.640
MEOX2	SLC25A31	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	SLC25A31	psi-mi:“MI:0915”(physical association)	0.560
SEC16B	SEC13	psi-mi:“MI:0914”(association)	0.550
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
CHCHD4	ENSA	psi-mi:“MI:0914”(association)	0.530
FBXL3	RFX1	psi-mi:“MI:0914”(association)	0.530
PTBP3	HNRNPC	psi-mi:“MI:0914”(association)	0.480
ARHGAP45	SLC25A31	psi-mi:“MI:0915”(physical association)	0.400
SLC25A31	PSMB5	psi-mi:“MI:0915”(physical association)	0.400
SLC25A31	TBC1D17	psi-mi:“MI:0915”(physical association)	0.400
ZDHHC17	SLC25A31	psi-mi:“MI:0915”(physical association)	0.370
CHN1	FARP2	psi-mi:“MI:0914”(association)	0.350
CFTR	MYH7B	psi-mi:“MI:0914”(association)	0.350
LRRCC1	MYH7B	psi-mi:“MI:0914”(association)	0.350
KRT39	MYH7B	psi-mi:“MI:0914”(association)	0.350
WWC1	CIT	psi-mi:“MI:0914”(association)	0.350
RABIF	RAD21	psi-mi:“MI:0914”(association)	0.350
INF2	PIPSL	psi-mi:“MI:0914”(association)	0.350
HLA-DRB1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ZC3H10	GTPBP10	psi-mi:“MI:0914”(association)	0.350
GGT1	POTEF	psi-mi:“MI:0914”(association)	0.350
FRMPD2	VPS37C	psi-mi:“MI:0914”(association)	0.350

BioGRID (59): SLC25A31 (Two-hybrid), SLC25A31 (Affinity Capture-Western), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Two-hybrid), KRTAP10-8 (Two-hybrid), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS)

ESM2 similar proteins: G2QNH0, G3XP90, G3Y1Q5, G3YAF3, G3YC86, G3YD89, O04619, O13844, O22342, O49447, O97470, P02723, P04709, P04710, P0C582, P12857, P16036, P18238, P18239, P23641, P25083, P27080, P27081, P31167, P31691, P31692, P34519, P40614, P40941, P49382, P90992, Q00325, Q09188, Q26365, Q27238, Q2YDD9, Q3V132, Q41629, Q41630, Q4R8M0

Diamond homologs: A2A3V2, A2ASZ8, A2CEQ0, A5DIS9, A5PJZ1, B0G159, B4F8I5, B4FIJ0, B8ZHC9, F4HW79, F4JU70, G2QNH0, K7VYZ9, O04619, O18757, O22342, O46373, O65023, O75746, O94502, P02722, P04709, P04710, P05141, P0C546, P12235, P12236, P12857, P16260, P16261, P25083, P27081, P29518, P31167, P31691, P31692, P32007, P33303, P40941, P48962

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1110 predictions. Top by Δscore:

Variant	Effect	Δscore
4:127730776:GG:G	donor_gain	1.0000
4:127730777:GG:G	donor_gain	1.0000
4:127744671:G:A	acceptor_loss	1.0000
4:127744796:ACAGG:A	donor_loss	1.0000
4:127744800:GT:G	donor_loss	1.0000
4:127744801:T:A	donor_loss	1.0000
4:127767216:T:G	donor_gain	1.0000
4:127767216:TTAAG:T	donor_loss	1.0000
4:127767217:TAAG:T	donor_loss	1.0000
4:127767218:AAGG:A	donor_loss	1.0000
4:127767219:AGG:A	donor_loss	1.0000
4:127767221:G:GC	donor_loss	1.0000
4:127767222:T:A	donor_loss	1.0000
4:127768750:AG:A	acceptor_gain	1.0000
4:127768751:GG:G	acceptor_gain	1.0000
4:127773384:AGAGT:A	acceptor_gain	1.0000
4:127773385:GA:G	acceptor_gain	1.0000
4:127773385:GAGTG:G	acceptor_gain	1.0000
4:127730773:GCAGG:G	donor_gain	0.9900
4:127737714:C:G	donor_gain	0.9900
4:127744667:TGTAG:T	acceptor_gain	0.9900
4:127744668:GTAGG:G	acceptor_gain	0.9900
4:127744669:TAG:T	acceptor_gain	0.9900
4:127744670:A:AG	acceptor_gain	0.9900
4:127744670:AGG:A	acceptor_gain	0.9900
4:127744671:G:GG	acceptor_gain	0.9900
4:127764241:A:AG	acceptor_gain	0.9900
4:127764242:G:GG	acceptor_gain	0.9900
4:127767060:TTTTA:T	acceptor_loss	0.9900
4:127767061:TTTAG:T	acceptor_loss	0.9900

AlphaMissense

2034 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:127730628:G:A	G28E	0.999
4:127764277:G:A	G132D	0.999
4:127764286:C:A	A135D	0.999
4:127764288:G:A	G136R	0.999
4:127764288:G:C	G136R	0.999
4:127764288:G:T	G136W	0.999
4:127764289:G:A	G136E	0.999
4:127767149:G:A	G188R	0.999
4:127767149:G:C	G188R	0.999
4:127767150:G:A	G188E	0.999
4:127767197:T:C	F204L	0.999
4:127767199:T:A	F204L	0.999
4:127767199:T:G	F204L	0.999
4:127773427:C:G	C267W	0.999
4:127730627:G:A	G28R	0.998
4:127730627:G:C	G28R	0.998
4:127730640:C:A	A32D	0.998
4:127744697:T:A	N86K	0.998
4:127744697:T:G	N86K	0.998
4:127744740:T:C	F101L	0.998
4:127744741:T:C	F101S	0.998
4:127744742:T:A	F101L	0.998
4:127744742:T:G	F101L	0.998
4:127764291:G:C	A137P	0.998
4:127764321:G:C	D147H	0.998
4:127767083:T:C	F166L	0.998
4:127767085:C:A	F166L	0.998
4:127767085:C:G	F166L	0.998
4:127767149:G:T	G188W	0.998
4:127767186:G:C	R200P	0.998

dbSNP variants (sampled 300 via entrez): RS1000068326 (4:127770712 A>C), RS1000082321 (4:127750391 T>G), RS1000118941 (4:127730299 C>A,T), RS1000172586 (4:127730264 C>T), RS1000180708 (4:127763589 A>G), RS1000186370 (4:127728798 T>C), RS1000263229 (4:127743720 C>T), RS1000283409 (4:127736684 T>C), RS1000290718 (4:127771101 C>G), RS1000333777 (4:127736143 C>A,T), RS1000404880 (4:127756659 C>T), RS1000422330 (4:127763866 G>A), RS1000598984 (4:127754862 A>G), RS1000683604 (4:127771338 C>A,T), RS1000708977 (4:127761582 AT>A)

Disease associations

OMIM: gene MIM:610796 | disease phenotypes: MIM:610951

GenCC curated gene-disease

Mondo (1): neuronal ceroid lipofuscinosis 7 (MONDO:0012588)

Orphanet (2): OBSOLETE: Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491), CLN7 disease (Orphanet:228366)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563989	Ceroid Lipofuscinosis, Neuronal, 7 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs201279313	Efficacy	3	atenolol;hydrochlorothiazide;metoprolol	Hypertension

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs201279313	SLC25A31	3	0.00	1	atenolol;hydrochlorothiazide;metoprolol

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — Mitochondrial nucleotide transporter subfamily

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases mutagenesis	3
dehydroabietylamine	affects activity	1
closantel	decreases activity	1
CD 437	decreases activity	1
Atrazine	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04737460	PHASE1	ACTIVE_NOT_RECRUITING	Study for the Treatment for CLN7 Disease
NCT04613089	Not specified	RECRUITING	Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database