TIMM17B

Summary

TIMM17B (translocase of inner mitochondrial membrane 17B, HGNC:17310) is a protein-coding gene on chromosome Xp11.23, encoding Mitochondrial import inner membrane translocase subunit Tim17-B (O60830). Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.

This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10245 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_001395498

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17310
Approved symbol	TIMM17B
Name	translocase of inner mitochondrial membrane 17B
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	DXS9822, JM3
Ensembl gene	ENSG00000126768
Ensembl biotype	protein_coding
OMIM	300249
Entrez	10245

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000376582, ENST00000396779, ENST00000464663, ENST00000465150, ENST00000466995, ENST00000472645, ENST00000490755, ENST00000495490, ENST00000696123, ENST00000696124, ENST00000876514, ENST00000920114, ENST00000920115, ENST00000920116

RefSeq mRNA: 4 — MANE Select: NM_001395498 NM_001167947, NM_001395497, NM_001395498, NM_005834

CCDS: CCDS14308, CCDS55411

Canonical transcript exons

ENST00000696123 — 6 exons

Exon	Start	End
ENSE00003637424	48895038	48895101
ENSE00003706168	48894097	48894225
ENSE00003707693	48893900	48894010
ENSE00003710359	48896759	48896858
ENSE00003966076	48897724	48897768
ENSE00003966078	48893449	48893817

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 96.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 63.7279 / max 422.1903, expressed in 1824 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199190	62.6542	1824
199191	0.7003	449
199189	0.3734	180

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	96.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.17	gold quality
gastrocnemius	UBERON:0001388	95.48	gold quality
mucosa of transverse colon	UBERON:0004991	94.96	gold quality
muscle of leg	UBERON:0001383	94.82	gold quality
heart left ventricle	UBERON:0002084	94.43	gold quality
right atrium auricular region	UBERON:0006631	94.31	gold quality
granulocyte	CL:0000094	94.16	gold quality
cardiac ventricle	UBERON:0002082	94.12	gold quality
adenohypophysis	UBERON:0002196	93.82	gold quality
right adrenal gland	UBERON:0001233	93.59	gold quality
body of stomach	UBERON:0001161	93.57	gold quality
lower esophagus	UBERON:0013473	93.28	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.28	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.21	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.18	gold quality
left adrenal gland cortex	UBERON:0035825	93.17	gold quality
left adrenal gland	UBERON:0001234	93.15	gold quality
cardiac atrium	UBERON:0002081	93.14	gold quality
popliteal artery	UBERON:0002250	93.14	gold quality
prefrontal cortex	UBERON:0000451	93.13	gold quality
tibial artery	UBERON:0007610	93.13	gold quality
pituitary gland	UBERON:0000007	93.12	gold quality
right adrenal gland cortex	UBERON:0035827	93.11	gold quality
heart	UBERON:0000948	93.10	gold quality
lower esophagus mucosa	UBERON:0035834	93.00	gold quality
muscle organ	UBERON:0001630	92.98	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.98	gold quality
metanephros cortex	UBERON:0010533	92.89	gold quality
nucleus accumbens	UBERON:0001882	92.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.32
E-MTAB-7606	no	306.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting TIMM17B, 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-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-342-5P	97.25	64.10	817
HSA-MIR-7976	95.75	65.67	1186
HSA-MIR-874-3P	95.02	65.66	806
HSA-MIR-6889-5P	90.26	64.13	291

Literature-anchored findings (GeneRIF, showing 1)

• The findings of this study together provide the first evidence that EspZ localizes to host mitochondria and that TIM17b contributes to protection against rapid cell death during EPEC infection. (PMID:21947777)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	timm17b	ENSDARG00000060124
mus_musculus	Timm17b	ENSMUSG00000031158
rattus_norvegicus	Timm17b	ENSRNOG00000063664
drosophila_melanogaster	Tim17b2	FBGN0020371
drosophila_melanogaster	CG1724	FBGN0031164
drosophila_melanogaster	Tim17a2	FBGN0037307
drosophila_melanogaster	Tim17b1	FBGN0037310
drosophila_melanogaster	Tim17a1	FBGN0038018
drosophila_melanogaster	Tim17b	FBGN0263977
caenorhabditis_elegans		WBGENE00017069
caenorhabditis_elegans		WBGENE00017119

Paralogs (1): TIMM17A (ENSG00000134375)

Protein

Protein identifiers

Mitochondrial import inner membrane translocase subunit Tim17-B — O60830 (reviewed: O60830)

All UniProt accessions (5): O60830, A0A8Q3SIA0, V9GYK7, V9GYS0, V9GYU0

UniProt curated annotations — full annotation on UniProt →

Function. Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.

Subunit / interactions. Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Expression is abundant in heart and skeletal muscle, intermediate in brain, and weak in pancreas, placenta, kidney and liver.

Post-translational modifications. Forms one disulfide bond.

Similarity. Belongs to the Tim17/Tim22/Tim23 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O60830-1	1	yes
O60830-2	2

RefSeq proteins (4): NP_001161419, NP_001382426, NP_001382427, NP_005825 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005678	Tim17	Family

Pfam: PF02466

UniProt features (7 total): transmembrane region 3, chain 1, region of interest 1, disulfide bond 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60830-F1	81.10	0.62

Functional residue map

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

Disulfide bonds (1): 9–78

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1268020	Mitochondrial protein import
R-HSA-9609507	Protein localization

MSigDB gene sets: 145 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_PROTEIN_TARGETING, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MODULE_66, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOCC_MITOCHONDRIAL_ENVELOPE, MODULE_88, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PROTEIN_TRANSMEMBRANE_TRANSPORT, WONG_MITOCHONDRIA_GENE_MODULE, GOBP_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_PROTEIN_TARGETING_TO_MITOCHONDRION, MODULE_11

GO Biological Process (4): obsolete protein targeting to mitochondrion (GO:0006626), intracellular protein transport (GO:0006886), protein import into mitochondrial matrix (GO:0030150), protein transport (GO:0015031)

GO Molecular Function (2): transmembrane protein transporter activity (GO:0008320), protein binding (GO:0005515)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), TIM23 mitochondrial import inner membrane translocase complex (GO:0005744), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular protein localization	2
protein transport	1
intracellular transport	1
protein transmembrane import into intracellular organelle	1
protein localization to mitochondrion	1
import into the mitochondrion	1
mitochondrial protein import pathway	1
transport	1
establishment of protein localization	1
macromolecule transmembrane transporter activity	1
protein transmembrane transport	1
protein transporter activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
inner mitochondrial membrane protein complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1424 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TIMM17B	TIMM23	O14925	984
TIMM17B	TIMM50	Q3ZCQ8	956
TIMM17B	TOMM20	Q15388	850
TIMM17B	TOMM70	O94826	800
TIMM17B	DNAJC19	Q96DA6	760
TIMM17B	PAM16	Q9Y3D7	709
TIMM17B	OXA1L	Q15070	681
TIMM17B	TIMM21	Q9BVV7	665
TIMM17B	TIMM44	O43615	647
TIMM17B	TIMM22	Q9Y584	644
TIMM17B	TIMM10B	Q9Y5J6	607
TIMM17B	TIMM10	P62072	591
TIMM17B	TIMM9	Q9Y5J7	571
TIMM17B	ROMO1	P60602	563
TIMM17B	TIMM8B	Q9Y5J9	549

IntAct

106 interactions, top by confidence:

A	B	Type	Score
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TIMM17B	TIMM23	psi-mi:“MI:0914”(association)	0.670
TIMM23	TIMM17B	psi-mi:“MI:0915”(physical association)	0.670
MYG1	TIMM17B	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	MYG1	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	TEX44	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	MPC2	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	CIDEB	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	RHBDD2	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	TIMM17B	psi-mi:“MI:0915”(physical association)	0.560
DYNC1H1	TIMM17B	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	ATN1	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B		psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	F13A1	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
GRN	TIMM17B	psi-mi:“MI:0915”(physical association)	0.560
GRIN2C	TIMM17B	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	GSN	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
PAK1	TIMM17B	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	WFS1	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	GIPC1	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
TIMM17B	RNF11	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	TIMM17B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (56): TIMM23 (Affinity Capture-Western), TIMM50 (Affinity Capture-Western), DNAJC15 (Affinity Capture-Western), PAM16 (Affinity Capture-Western), TIMM17B (Affinity Capture-Western), TIMM17B (Affinity Capture-Western), CREB3 (Two-hybrid), TIMM17B (Affinity Capture-MS), TIMM17B (Affinity Capture-MS), TIMM17B (Affinity Capture-MS), TIMM17B (Affinity Capture-MS), TIMM17B (Affinity Capture-MS), TIMM17B (Affinity Capture-MS), TTC30B (Affinity Capture-MS), TIMM17B (Affinity Capture-MS)

ESM2 similar proteins: A2RVP7, A2VDV9, A4IFL0, O14925, O35093, O35094, O35857, O43615, O60830, P0CR88, P0CR89, P59670, Q02921, Q2HJE9, Q2KHV4, Q2UAP8, Q38820, Q3B8P0, Q3ZBE6, Q4V8S3, Q5BIN4, Q5M7K0, Q5R5H4, Q5RDD0, Q5REX0, Q5SRD1, Q5U4F4, Q5U4U5, Q5XH94, Q5XJY4, Q5ZLL0, Q6BZY4, Q6GQ39, Q6INU6, Q6NWD4, Q7T2P6, Q86UB9, Q9C1E8, Q9CQ85, Q9CYV5

Diamond homologs: O35092, O44477, O60830, P39515, P59670, P87130, Q2HJE9, Q2UAP8, Q54K35, Q5BIN4, Q6BZY4, Q6NKU9, Q94EH2, Q99595, Q9C1E8, Q9CQ85, Q9JKW1, Q9LN27, Q9LYG1, Q9SP35, Q9VGA2, Q9VN97, Q9VNA0, Q9Z0V7, Q9Z0V8, A0A1D8PI78, P0CR88, P0CR89, P87146, Q5M7K0, Q9NAQ9, Q6FT37, A1XJK0, A2RVP7, O48528, Q12328, Q54QM0, Q5U4U5, Q6BT35, Q6CRJ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1176 predictions. Top by Δscore:

Variant	Effect	Δscore
X:48893726:T:TA	donor_gain	1.0000
X:48893896:TCA:T	donor_loss	1.0000
X:48893898:A:AC	donor_gain	1.0000
X:48893898:AC:A	donor_gain	1.0000
X:48893898:ACCAT:A	donor_loss	1.0000
X:48893899:C:CT	donor_gain	1.0000
X:48893899:CC:C	donor_gain	1.0000
X:48893899:CCA:C	donor_gain	1.0000
X:48893899:CCAT:C	donor_gain	1.0000
X:48893899:CCATT:C	donor_gain	1.0000
X:48894006:GCCAC:G	acceptor_gain	1.0000
X:48894007:CCAC:C	acceptor_gain	1.0000
X:48894007:CCACC:C	acceptor_gain	1.0000
X:48894008:CAC:C	acceptor_gain	1.0000
X:48894008:CACC:C	acceptor_gain	1.0000
X:48894009:AC:A	acceptor_gain	1.0000
X:48894010:CC:C	acceptor_gain	1.0000
X:48894011:C:CA	acceptor_loss	1.0000
X:48894011:C:CC	acceptor_gain	1.0000
X:48894012:T:A	acceptor_loss	1.0000
X:48894019:G:C	acceptor_gain	1.0000
X:48894019:G:GC	acceptor_gain	1.0000
X:48894020:T:C	acceptor_gain	1.0000
X:48894020:T:TC	acceptor_gain	1.0000
X:48894088:GTCAC:G	donor_loss	1.0000
X:48894089:TCACT:T	donor_loss	1.0000
X:48894090:CACT:C	donor_loss	1.0000
X:48894091:ACTCA:A	donor_loss	1.0000
X:48894093:TCA:T	donor_loss	1.0000
X:48894094:CA:C	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000005024 (X:48895294 T>A), RS1000440016 (X:48895864 G>T), RS1001415677 (X:48897616 C>G), RS1002020350 (X:48899569 C>G,T), RS1002454674 (X:48899973 G>A,T), RS1005526126 (X:48898738 C>T), RS1006576758 (X:48898296 A>G), RS1007687467 (X:48893334 A>C), RS1008642362 (X:48895537 G>A), RS1008674950 (X:48895891 G>A), RS1008707556 (X:48896374 T>C), RS1009646790 (X:48897645 C>T), RS1010686831 (X:48899993 G>T), RS1013813405 (X:48897524 C>T), RS1015118921 (X:48896572 G>A,C)

Disease associations

OMIM: gene MIM:300249 | 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
GCST007847_105	Type 2 diabetes	5.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
urushiol	decreases expression	1
chloroacetaldehyde	increases expression	1
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Temozolomide	decreases expression	1
Cidofovir	affects expression	1
Aspirin	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cisplatin	affects expression	1
Clodronic Acid	decreases expression	1
Doxorubicin	increases expression	1
Ifosfamide	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	increases expression	1

Cellosaurus cell lines

6 cell lines: 5 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3J9	Abcam HEK293T TIMM17B KO	Transformed cell line	Female
CVCL_E1LD	HyCyte HT-29 KO-hTIMM17B	Cancer cell line	Female
CVCL_E1LF	HyCyte Huh-7 KO-hTIMM17B	Cancer cell line	Male
CVCL_E2LT	HAP1 TIMM17B (-) 2	Cancer cell line	Male
CVCL_E2LU	HAP1 TIMM17B (-) 3	Cancer cell line	Male
CVCL_XU23	HAP1 TIMM17B (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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