SLC25A29

Summary

SLC25A29 (solute carrier family 25 member 29, HGNC:20116) is a protein-coding gene on chromosome 14q32.2, encoding Mitochondrial basic amino acids transporter (Q8N8R3). Mitochondrial transporter of arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine.

This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 123096 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 74 total — 1 pathogenic
• MANE Select transcript: NM_001039355

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20116
Approved symbol	SLC25A29
Name	solute carrier family 25 member 29
Location	14q32.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38975
Ensembl gene	ENSG00000197119
Ensembl biotype	protein_coding
OMIM	615064
Entrez	123096

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 7 protein_coding, 7 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron

ENST00000359232, ENST00000392908, ENST00000553359, ENST00000553574, ENST00000554060, ENST00000554224, ENST00000554291, ENST00000554912, ENST00000555051, ENST00000555475, ENST00000555888, ENST00000555927, ENST00000555949, ENST00000556201, ENST00000556505, ENST00000556715, ENST00000556844, ENST00000556868, ENST00000556873, ENST00000557438

RefSeq mRNA: 8 — MANE Select: NM_001039355 NM_001039355, NM_001291813, NM_001291814, NM_001352820, NM_001352821, NM_001352822, NM_001352823, NM_152333

CCDS: CCDS32156

Canonical transcript exons

ENST00000359232 — 4 exons

Exon	Start	End
ENSE00001702813	100291116	100293032
ENSE00003543130	100306199	100306444
ENSE00003557738	100298842	100298885
ENSE00003653908	100293294	100293377

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 99.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0694 / max 788.3652, expressed in 1756 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144909	14.7682	1666
144911	2.6318	1210
144910	2.5563	1136
144908	0.1130	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.65	gold quality
right lobe of thyroid gland	UBERON:0001119	99.62	gold quality
left lobe of thyroid gland	UBERON:0001120	99.57	gold quality
thyroid gland	UBERON:0002046	99.32	gold quality
metanephros cortex	UBERON:0010533	98.78	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.73	gold quality
spinal cord	UBERON:0002240	98.45	gold quality
tibial nerve	UBERON:0001323	97.43	gold quality
pancreatic ductal cell	CL:0002079	97.31	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.27	gold quality
adenohypophysis	UBERON:0002196	96.84	gold quality
left ovary	UBERON:0002119	96.41	gold quality
nucleus accumbens	UBERON:0001882	96.23	gold quality
pituitary gland	UBERON:0000007	96.21	gold quality
mucosa of stomach	UBERON:0001199	96.02	gold quality
cortex of kidney	UBERON:0001225	96.00	gold quality
left uterine tube	UBERON:0001303	95.93	gold quality
gall bladder	UBERON:0002110	95.84	gold quality
cortical plate	UBERON:0005343	95.73	gold quality
minor salivary gland	UBERON:0001830	95.63	gold quality
right ovary	UBERON:0002118	95.58	gold quality
ganglionic eminence	UBERON:0004023	95.46	gold quality
endocervix	UBERON:0000458	95.29	gold quality
right frontal lobe	UBERON:0002810	95.24	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.23	gold quality
right testis	UBERON:0004534	95.18	gold quality
saliva-secreting gland	UBERON:0001044	95.11	gold quality
hypothalamus	UBERON:0001898	94.99	gold quality
renal medulla	UBERON:0000362	94.96	gold quality
left testis	UBERON:0004533	94.96	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	27.76
E-ANND-3	yes	7.99
E-MTAB-7316	no	131.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting SLC25A29, 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-513A-5P	100.00	69.77	2465
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-5008-5P	98.42	65.87	1019

Literature-anchored findings (GeneRIF, showing 4)

• The human and mouse SLC25A29 mitochondrial ornithine transporters (designated as ORNT3) rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. (PMID:19287344)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• The main physiological role of SLC25A29 is to import basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation. (PMID:24652292)
• Results provide evidence that aberrant elevated SLC25A29 in cancer functioned to transport more arginine into mitochondria, improved mitochondria-derived nitric oxide levels, thus modulated metabolic status to facilitate increased cancer progression. (PMID:29459713)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc25a29	ENSDARG00000057352
danio_rerio	SLC25A29	ENSDARG00000098849
mus_musculus	Slc25a29	ENSMUSG00000021265
rattus_norvegicus	Slc25a29	ENSRNOG00000004351
drosophila_melanogaster	CG4995	FBGN0032219
caenorhabditis_elegans		WBGENE00008320

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), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564)

Protein

Protein identifiers

Mitochondrial basic amino acids transporter — Q8N8R3 (reviewed: Q8N8R3)

Alternative names: Carnitine/acylcarnitine translocase-like, Mitochondrial carnitine/acylcarnitine carrier protein CACL, Mitochondrial ornithine transporter 3, Solute carrier family 25 member 29

All UniProt accessions (5): Q8N8R3, G3V441, G3V477, G3V4H8, G3V5F4

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial transporter of arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine. Does not transport carnitine nor acylcarnitines. Functions by both counter-exchange and uniport mechanisms. Plays a physiological role in the import of basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation.

Subcellular location. Mitochondrion inner membrane.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

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

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N8R3-1	1	yes
Q8N8R3-2	2
Q8N8R3-3	3

RefSeq proteins (8): NP_001034444, NP_001278742, NP_001278743, NP_001339749, NP_001339750, NP_001339751, NP_001339752, NP_689546 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002067	MCP	Family
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily
IPR050567	Mitochondrial_Carrier	Family

Pfam: PF00153

Catalyzed reactions (Rhea), 9 shown:

• L-arginine(in) = L-arginine(out) (RHEA:32143)
• L-ornithine(in) + L-arginine(out) = L-ornithine(out) + L-arginine(in) (RHEA:34991)
• L-lysine(out) + L-arginine(in) = L-lysine(in) + L-arginine(out) (RHEA:70827)
• L-lysine(in) = L-lysine(out) (RHEA:70935)
• L-histidine(out) + L-arginine(in) = L-histidine(in) + L-arginine(out) (RHEA:71063)
• L-ornithine(in) = L-ornithine(out) (RHEA:71199)
• L-homoarginine(in) + L-arginine(out) = L-homoarginine(out) + L-arginine(in) (RHEA:72799)
• N(omega)-methyl-L-arginine(in) + L-arginine(out) = N(omega)-methyl-L-arginine(out) + L-arginine(in) (RHEA:72803)
• L-histidine(out) = L-histidine(in) (RHEA:72807)

UniProt features (15 total): transmembrane region 6, splice variant 3, repeat 3, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N8R3-F1	81.51	0.16

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-352230	Amino acid transport across the plasma membrane
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 121 (showing top): LFA1_Q6, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GCM_ZNF198, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_AMINO_ACID_BETAINE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT, GOBP_QUATERNARY_AMMONIUM_GROUP_TRANSPORT, GOBP_AMINO_ACID_TRANSPORT

GO Biological Process (7): amino acid transport (GO:0006865), ornithine transport (GO:0015822), L-histidine transmembrane transport (GO:0089709), L-lysine transmembrane transport (GO:1903401), L-arginine transmembrane transport (GO:1903826), mitochondrial L-ornithine transmembrane transport (GO:1990575), transmembrane transport (GO:0055085)

GO Molecular Function (4): high-affinity L-arginine transmembrane transporter activity (GO:0005289), high-affinity lysine transmembrane transporter activity (GO:0005292), basic amino acid transmembrane transporter activity (GO:0015174), obsolete organic cation transmembrane transporter activity (GO:0015101)

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

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transport of amino acids	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
L-alpha-amino acid transmembrane transport	3
transport	2
basic amino acid transmembrane transport	2
high-affinity basic amino acid transmembrane transporter activity	2
amino acid transport	1
carboxylic acid transport	1
nitrogen compound transport	1
aromatic amino acid transport	1
azole transmembrane transport	1
L-lysine transport	1
L-ornithine transmembrane transport	1
mitochondrial transmembrane transport	1
cellular process	1
L-arginine transmembrane transporter activity	1
L-lysine transmembrane transporter activity	1
amino acid transmembrane transporter activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cellular anatomical structure	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A29	BEGAIN	Q9BUH8	615
SLC25A29	WDR25	Q64LD2	594
SLC25A29	FAM180A	Q6UWF9	518
SLC25A29	PI15	O43692	496
SLC25A29	GCC2	Q8IWJ2	490
SLC25A29	FANCE	Q9HB96	465
SLC25A29	ANKS1A	Q92625	465
SLC25A29	TCP11	Q8WWU5	457
SLC25A29	AGXT2	Q9BYV1	456
SLC25A29	AASS	Q9UDR5	446
SLC25A29	TAF6	P49848	431
SLC25A29	ADAM15	Q13444	414
SLC25A29	SNRK	Q9NRH2	411
SLC25A29	MRPS21	P82921	402
SLC25A29	MRPL1	Q9BYD6	399
SLC25A29	PRPF39	Q86UA1	399

IntAct

39 interactions, top by confidence:

A	B	Type	Score
NME3	NME4	psi-mi:“MI:0914”(association)	0.640
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
BSG	BTAF1	psi-mi:“MI:0914”(association)	0.530
DNAJB8	DNAJB6	psi-mi:“MI:0914”(association)	0.530
IRAK1	ILVBL	psi-mi:“MI:0914”(association)	0.350
MGARP	BTAF1	psi-mi:“MI:0914”(association)	0.350
MGARP	RTL8C	psi-mi:“MI:0914”(association)	0.350
GLMP	RTL8C	psi-mi:“MI:0914”(association)	0.350
MICB	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
FFAR1	SLC12A8	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
NAAA	HAX1	psi-mi:“MI:0914”(association)	0.350
CST9L	QSOX1	psi-mi:“MI:0914”(association)	0.350
BSG	TNPO2	psi-mi:“MI:0914”(association)	0.350
LRRC25	SCAMP3	psi-mi:“MI:0914”(association)	0.350
RAMP3	MGST3	psi-mi:“MI:0914”(association)	0.350
HLA-DMB	RAB29	psi-mi:“MI:0914”(association)	0.350
FCGR3B	CLGN	psi-mi:“MI:0914”(association)	0.350
HLA-DRA	MGRN1	psi-mi:“MI:0914”(association)	0.350
MAGED2	AMY1A	psi-mi:“MI:0914”(association)	0.350
PCDHA12	RPL23	psi-mi:“MI:0914”(association)	0.350
MICB	LGALS8	psi-mi:“MI:0914”(association)	0.350
OSTM1	ASMTL	psi-mi:“MI:0914”(association)	0.350
PCDHGB4	AAMP	psi-mi:“MI:0914”(association)	0.350

BioGRID (33): SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS), SLC25A29 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K309, A0A1D6N272, A3KPP4, G3XP90, G3YD89, O13844, P04575, P04633, P12234, P12242, P16036, P33303, Q08DK7, Q0VCH6, Q1LZB3, Q27257, Q29RM1, Q3KQZ1, Q3TZX3, Q505J6, Q58DS3, Q5HZE0, Q5IS35, Q5NVC1, Q5R7W2, Q5SWT3, Q6AYL0, Q6DFK2, Q6P036, Q6P316, Q7K566, Q8BGP6, Q8BL03, Q8BZ09, Q8N8R3, Q8TBP6, Q8VEM8, Q93XM7, Q99JD3, Q9BSK2

Diamond homologs: A0A0G2K309, F4HW79, O04200, O22261, O43772, O94502, P10566, P32331, P38087, P39953, P40556, P97521, Q06143, Q08DK7, Q12289, Q12375, Q27257, Q3ZBJ8, Q54BM3, Q54FE6, Q54W11, Q5HZE0, Q5XGI1, Q68F18, Q6BPW0, Q6GLJ0, Q6GQ22, Q76P23, Q84UC7, Q8BL03, Q8BW66, Q8CFJ7, Q8HXY2, Q8N413, Q8N8R3, Q8RXZ9, Q93XM7, Q9BXI2, Q9CA93, Q9UTD6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	60
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4540580	Single allele	Pathogenic

SpliceAI

782 predictions. Top by Δscore:

Variant	Effect	Δscore
14:100293028:AGCAC:A	acceptor_gain	1.0000
14:100293029:GCAC:G	acceptor_gain	1.0000
14:100293030:CAC:C	acceptor_gain	1.0000
14:100293030:CACC:C	acceptor_gain	1.0000
14:100293030:CACCT:C	acceptor_loss	1.0000
14:100293031:AC:A	acceptor_gain	1.0000
14:100293032:CC:C	acceptor_gain	1.0000
14:100293032:CCTGC:C	acceptor_loss	1.0000
14:100293033:C:CA	acceptor_loss	1.0000
14:100293033:C:CC	acceptor_gain	1.0000
14:100293034:T:G	acceptor_loss	1.0000
14:100293292:A:AC	donor_gain	1.0000
14:100293292:ACG:A	donor_gain	1.0000
14:100293292:ACGCT:A	donor_gain	1.0000
14:100293293:C:CA	donor_gain	1.0000
14:100293293:CG:C	donor_gain	1.0000
14:100293293:CGC:C	donor_gain	1.0000
14:100293293:CGCT:C	donor_gain	1.0000
14:100293293:CGCTC:C	donor_gain	1.0000
14:100293373:CGTAC:C	acceptor_gain	1.0000
14:100293374:GTAC:G	acceptor_gain	1.0000
14:100293375:TAC:T	acceptor_gain	1.0000
14:100293375:TACC:T	acceptor_loss	1.0000
14:100293376:AC:A	acceptor_gain	1.0000
14:100293377:CC:C	acceptor_gain	1.0000
14:100293377:CCTG:C	acceptor_loss	1.0000
14:100293378:C:CG	acceptor_loss	1.0000
14:100293379:T:C	acceptor_loss	1.0000
14:100295848:C:CA	donor_gain	1.0000
14:100295889:C:CA	donor_gain	1.0000

AlphaMissense

1901 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:100292964:G:C	F77L	1.000
14:100292964:G:T	F77L	1.000
14:100292966:A:G	F77L	1.000
14:100292407:G:T	A263D	0.999
14:100292844:C:A	K117N	0.999
14:100292844:C:G	K117N	0.999
14:100292965:A:G	F77S	0.999
14:100292404:G:T	A264D	0.998
14:100292553:C:A	K214N	0.998
14:100292553:C:G	K214N	0.998
14:100292564:C:G	D211H	0.998
14:100292585:A:G	W204R	0.998
14:100292585:A:T	W204R	0.998
14:100292596:C:T	G200D	0.998
14:100292605:C:T	G197D	0.998
14:100292608:C:T	G196D	0.998
14:100292965:A:C	F77C	0.998
14:100292974:G:T	A74E	0.998
14:100293321:G:C	C45W	0.998
14:100298842:C:A	K26N	0.998
14:100298842:C:G	K26N	0.998
14:100298852:T:A	D23V	0.998
14:100298865:C:G	G19R	0.998
14:100298865:C:T	G19R	0.998
14:100306210:C:T	G8E	0.998
14:100292398:A:G	F266S	0.997
14:100292405:C:G	A264P	0.997
14:100292408:C:G	A263P	0.997
14:100292446:C:T	G250E	0.997
14:100292447:C:G	G250R	0.997

dbSNP variants (sampled 300 via entrez): RS1000073123 (14:100291885 C>T), RS1000120847 (14:100287181 T>C), RS1000160459 (14:100282162 C>T), RS1000176288 (14:100305693 G>A), RS1000214916 (14:100295211 GACCCCTCAGT>G), RS1000333206 (14:100307471 C>T), RS1000411659 (14:100290081 G>A), RS1000500234 (14:100281218 T>C), RS1000781767 (14:100306742 C>A,G,T), RS1000784046 (14:100290329 T>A,C), RS1001045158 (14:100286207 A>G), RS1001052356 (14:100280957 G>A), RS1001362187 (14:100295725 G>A,C), RS1001458956 (14:100301066 A>AT), RS1001505250 (14:100290740 C>T)

Disease associations

OMIM: gene MIM:615064 | disease phenotypes: MIM:617557

GenCC curated gene-disease

Mondo (1): Gabriele de Vries syndrome (MONDO:0044738)

Orphanet (1): Gabriele-de Vries syndrome (Orphanet:506358)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST008058_146	Estimated glomerular filtration rate	1.000000e-14
GCST008059_13	Estimated glomerular filtration rate	9.000000e-16
GCST010242_94	HDL cholesterol levels	3.000000e-08
GCST010244_409	Triglyceride levels	4.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement

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 — Mitochondrial amino acid transporter subfamily

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases methylation	6
trichostatin A	affects cotreatment, decreases expression	2
Leflunomide	decreases expression	2
Acetaminophen	increases expression	2
Tobacco Smoke Pollution	decreases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases methylation, affects cotreatment	1
beta-lapachone	decreases expression, increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Gemcitabine	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2FQ	Abcam HeLa SLC25A29 KO	Cancer cell line	Female
CVCL_D4JR	HCT116-SLC25A29-KO-c2	Cancer cell line	Male
CVCL_D4JS	HCT116-SLC25A29-KO-c8	Cancer cell line	Male
CVCL_TM29	HAP1 SLC25A29 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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