SLC25A34

Summary

SLC25A34 (solute carrier family 25 member 34, HGNC:27653) is a protein-coding gene on chromosome 1p36.21, encoding Solute carrier family 25 member 34 (Q6PIV7). Putative antiporter that exchanges dicarboxylates and sulfur oxoanions across the inner membrane of mitochondria.

SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).

Source: NCBI Gene 284723 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_207348

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27653
Approved symbol	SLC25A34
Name	solute carrier family 25 member 34
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp781A10161
Ensembl gene	ENSG00000162461
Ensembl biotype	protein_coding
OMIM	610817
Entrez	284723

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000294454, ENST00000465495, ENST00000489568, ENST00000852312, ENST00000852313, ENST00000852314, ENST00000852315, ENST00000852316, ENST00000852317, ENST00000949754, ENST00000949755

RefSeq mRNA: 1 — MANE Select: NM_207348 NM_207348

CCDS: CCDS162

Canonical transcript exons

ENST00000294454 — 5 exons

Exon	Start	End
ENSE00001065428	15737929	15737994
ENSE00001403918	15736258	15736863
ENSE00001425737	15739224	15741392
ENSE00003499765	15738093	15738245
ENSE00003547641	15738594	15738728

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 94.94.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2213 / max 41.0884, expressed in 64 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
902	0.1245	45
901	0.0856	39
903	0.0113	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	94.94	gold quality
quadriceps femoris	UBERON:0001377	93.79	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.00	gold quality
biceps brachii	UBERON:0001507	91.86	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.71	gold quality
skeletal muscle tissue	UBERON:0001134	89.21	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	88.98	gold quality
gastrocnemius	UBERON:0001388	88.93	gold quality
skeletal muscle organ	UBERON:0014892	88.54	gold quality
jejunal mucosa	UBERON:0000399	88.03	gold quality
muscle of leg	UBERON:0001383	87.69	gold quality
apex of heart	UBERON:0002098	86.03	gold quality
mucosa of transverse colon	UBERON:0004991	85.87	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.79	gold quality
parotid gland	UBERON:0001831	85.51	gold quality
cerebellar hemisphere	UBERON:0002245	85.25	gold quality
muscle tissue	UBERON:0002385	85.04	gold quality
cerebellar cortex	UBERON:0002129	85.03	gold quality
deltoid	UBERON:0001476	84.53	gold quality
kidney epithelium	UBERON:0004819	84.48	gold quality
cerebellum	UBERON:0002037	83.96	gold quality
heart left ventricle	UBERON:0002084	83.17	gold quality
cardiac ventricle	UBERON:0002082	82.89	gold quality
ileal mucosa	UBERON:0000331	81.98	silver quality
jejunum	UBERON:0002115	80.97	gold quality
body of tongue	UBERON:0011876	80.79	gold quality
duodenum	UBERON:0002114	80.73	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.70	gold quality
ascending aorta	UBERON:0001496	80.34	gold quality
thoracic aorta	UBERON:0001515	80.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting SLC25A34, 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-3613-3P	100.00	76.36	7965
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4649-3P	99.56	66.90	1783

Literature-anchored findings (GeneRIF, showing 2)

• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• The SLC25A34 transcript, based on single cell transcriptomics, is specific to the beta cells in the human islet. (PMID:27864352)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc25a34	ENSDARG00000087401
mus_musculus	Slc25a34	ENSMUSG00000040740
rattus_norvegicus	Tmem82	ENSRNOG00000011970
drosophila_melanogaster	CG8323	FBGN0033903
drosophila_melanogaster	CG18327	FBGN0033904
drosophila_melanogaster	CG18324	FBGN0033905

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), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)

Protein

Protein identifiers

Solute carrier family 25 member 34 — Q6PIV7 (reviewed: Q6PIV7)

All UniProt accessions (1): Q6PIV7

UniProt curated annotations — full annotation on UniProt →

Function. Putative antiporter that exchanges dicarboxylates and sulfur oxoanions across the inner membrane of mitochondria.

Subcellular location. Mitochondrion inner membrane.

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

RefSeq proteins (1): NP_997231* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily
IPR051508	Mito_Carrier_Antiporter	Family

Pfam: PF00153

Catalyzed reactions (Rhea), 1 shown:

• a dicarboxylate(in) + sulfate(out) = a dicarboxylate(out) + sulfate(in) (RHEA:76595)

UniProt features (11 total): transmembrane region 6, repeat 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PIV7-F1	84.81	0.29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, TGACCTY_ERR1_Q2, FOXO1_01, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_BLASTOCYST_DEVELOPMENT, GOCC_MITOCHONDRIAL_ENVELOPE, PPAR_DR1_Q2, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, SABATES_COLORECTAL_ADENOMA_DN, GOBP_EMBRYO_DEVELOPMENT, ACACTCC_MIR122A, GOCC_ORGANELLE_INNER_MEMBRANE, MEF2_03, WGTTNNNNNAAA_UNKNOWN, chr1p36

GO Biological Process (1): blastocyst hatching (GO:0001835)

GO Molecular Function (0):

GO Cellular Component (3): mitochondrial inner membrane (GO:0005743), mitochondrion (GO:0005739), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
blastocyst development	1
hatching	1
organelle inner membrane	1
mitochondrial membrane	1
cytoplasm	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

530 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A34	TMEM82	A0PJX8	559
SLC25A34	SLC25A51	Q9H1U9	499
SLC25A34	SLC25A53	Q5H9E4	486
SLC25A34	SLC22A15	Q8IZD6	471
SLC25A34	FAM131C	Q96AQ9	429
SLC25A34	SLC25A52	Q3SY17	413
SLC25A34	CCDC24	Q8N4L8	405
SLC25A34	MAPRE1	Q15691	397
SLC25A34	UQCC5	Q8WVI0	376
SLC25A34	SLC9B2	Q86UD5	371
SLC25A34	FBLIM1	Q8WUP2	360
SLC25A34	SLC25A46	Q96AG3	354
SLC25A34	PLEKHM2	Q8IWE5	348
SLC25A34	SLC25A3	Q00325	344
SLC25A34	SMIM14	Q96QK8	343

IntAct

0 interactions, top by confidence:

BioGRID (3): SLC25A34 (Synthetic Lethality), SLC25A34 (Negative Genetic), SLC25A34 (Proximity Label-MS)

ESM2 similar proteins: A0PC02, A1DI57, A2ADF7, A2R5A0, A3KPP4, G3XP90, O95847, P04633, P10861, P12242, P16260, P56500, Q01888, Q08DK7, Q0CEN9, Q17QI7, Q23125, Q29RM1, Q2UCW8, Q3KQZ1, Q3SZK0, Q4V8K4, Q505J6, Q58DS3, Q5HZE0, Q5IS35, Q5NVC1, Q5SWT3, Q5XIF9, Q6AYL0, Q6IS41, Q6J329, Q6PH61, Q6PIV7, Q6Q0C1, Q7SXW0, Q8BL03, Q8C0K5, Q8N8R3, Q9BV35

Diamond homologs: A0A0G2K5L2, A2ADF7, A3KPP4, A4RF23, B0G143, F1LX07, F1LZW6, F1RFX9, G3XP90, G5EE96, O81845, O89035, O95847, O97562, O97649, P0C582, P0CAT2, P16261, P22292, P25874, P32332, P39953, P55851, P56500, P70406, P90992, P97700, Q02978, Q0CEN9, Q21153, Q27257, Q3KQZ1, Q3SZI5, Q3SZK0, Q505J6, Q54PY7, Q55BF4, Q58DS3, Q5R5A8, Q5RD81

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

558 predictions. Top by Δscore:

Variant	Effect	Δscore
1:15736861:CTGGT:C	donor_loss	1.0000
1:15736862:TGGTG:T	donor_loss	1.0000
1:15736864:G:A	donor_loss	1.0000
1:15736865:T:A	donor_loss	1.0000
1:15737927:A:AG	acceptor_gain	1.0000
1:15737928:G:GG	acceptor_gain	1.0000
1:15737993:AGG:A	donor_loss	1.0000
1:15737994:GGTGA:G	donor_loss	1.0000
1:15737995:G:A	donor_loss	1.0000
1:15737996:T:G	donor_loss	1.0000
1:15738091:A:AG	acceptor_gain	1.0000
1:15738092:G:GA	acceptor_gain	1.0000
1:15738092:GA:G	acceptor_gain	1.0000
1:15738092:GACT:G	acceptor_gain	1.0000
1:15738590:ACAGT:A	acceptor_gain	1.0000
1:15738591:CA:C	acceptor_loss	1.0000
1:15738592:A:AG	acceptor_gain	1.0000
1:15738592:AGT:A	acceptor_gain	1.0000
1:15738592:AGTG:A	acceptor_gain	1.0000
1:15738593:G:GA	acceptor_gain	1.0000
1:15738593:GT:G	acceptor_gain	1.0000
1:15738593:GTG:G	acceptor_gain	1.0000
1:15738593:GTGG:G	acceptor_gain	1.0000
1:15738593:GTGGC:G	acceptor_gain	1.0000
1:15738724:GCAGG:G	donor_gain	1.0000
1:15738726:AGGG:A	donor_loss	1.0000
1:15738727:GG:G	donor_gain	1.0000
1:15738728:GG:G	donor_gain	1.0000
1:15738729:G:GG	donor_gain	1.0000
1:15738730:T:G	donor_loss	1.0000

AlphaMissense

1917 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:15736849:A:C	S122R	0.996
1:15736851:C:A	S122R	0.996
1:15736851:C:G	S122R	0.996
1:15738642:A:C	S216R	0.996
1:15738644:C:A	S216R	0.996
1:15738644:C:G	S216R	0.996
1:15738645:A:C	S217R	0.996
1:15738647:C:A	S217R	0.996
1:15738647:C:G	S217R	0.996
1:15737933:A:T	K128I	0.994
1:15737934:A:C	K128N	0.994
1:15737934:A:T	K128N	0.994
1:15736578:G:C	K31N	0.992
1:15736578:G:T	K31N	0.992
1:15736560:C:A	N25K	0.991
1:15736560:C:G	N25K	0.991
1:15738210:T:C	F188L	0.991
1:15738212:C:A	F188L	0.991
1:15738212:C:G	F188L	0.991
1:15736699:G:A	G72R	0.990
1:15736699:G:C	G72R	0.990
1:15736737:T:A	N84K	0.990
1:15736737:T:G	N84K	0.990
1:15739344:A:C	S285R	0.990
1:15739346:C:A	S285R	0.990
1:15739346:C:G	S285R	0.990
1:15738679:A:T	D228V	0.988
1:15739253:C:G	C254W	0.988
1:15736834:G:A	G117R	0.987
1:15736834:G:C	G117R	0.987

dbSNP variants (sampled 300 via entrez): RS1000642160 (1:15737768 G>C), RS1000915865 (1:15740775 C>T), RS1000988714 (1:15735957 G>A), RS1001202069 (1:15735106 C>T), RS1001742251 (1:15739975 G>A), RS1002151889 (1:15739653 C>G,T), RS1002217857 (1:15737688 G>A,C,T), RS1002265645 (1:15735995 C>T), RS1002757512 (1:15741075 T>A,G), RS1003000983 (1:15741429 C>T), RS1003158082 (1:15741193 T>C), RS1003248340 (1:15737350 C>G,T), RS1003860316 (1:15741552 G>C), RS1004768757 (1:15738467 C>T), RS1005576313 (1:15737142 T>C)

Disease associations

OMIM: gene MIM:610817 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004860_1	Alcoholic chronic pancreatitis	7.000000e-07
GCST004860_107	Alcoholic chronic pancreatitis	2.000000e-06
GCST004860_109	Alcoholic chronic pancreatitis	6.000000e-06
GCST004860_134	Alcoholic chronic pancreatitis	1.000000e-06

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 di- and tri-carboxylic acid transporter subfamily

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Ozone	increases oxidation, affects expression, increases abundance, decreases expression, increases expression	2
aristolochic acid I	increases expression	1
methyleugenol	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
dimethylselenide	increases expression, increases oxidation, decreases expression	1
perfluorooctanoic acid	increases expression	1
1-hydroxypyrene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-heptanoic acid	increases expression	1
perfluorohexanoic acid	increases expression	1
perfluoroundecanoic acid	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Formaldehyde	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Naphthoquinones	increases expression	1
Nickel	decreases expression	1
Fenofibrate	increases expression	1
Rifampin	decreases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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