TIMM23B

Summary

TIMM23B (translocase of inner mitochondrial membrane 23 homolog B, HGNC:23581) is a protein-coding gene on chromosome 10q11.23, encoding Mitochondrial import inner membrane translocase subunit Tim23B (Q5SRD1). May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. the PAM complex.

Predicted to enable protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrion.

Source: NCBI Gene 100652748 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• MANE Select transcript: NM_001290117

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23581
Approved symbol	TIMM23B
Name	translocase of inner mitochondrial membrane 23 homolog B
Location	10q11.23
Locus type	gene with protein product
Status	Approved
Aliases	bA592B15.7
Ensembl gene	ENSG00000204152
Ensembl biotype	protein_coding
OMIM	620758
Entrez	100652748

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000478381, ENST00000483296, ENST00000651259, ENST00000652716, ENST00000868534, ENST00000913764

RefSeq mRNA: 3 — MANE Select: NM_001290117 NM_001290117, NM_001290118, NM_001365871

CCDS: CCDS73131, CCDS76301

Canonical transcript exons

ENST00000651259 — 7 exons

Exon	Start	End
ENSE00003850191	49942053	49942300
ENSE00003899534	49952449	49952533
ENSE00003900537	49973012	49974850
ENSE00003901374	49952126	49952219
ENSE00003901499	49945032	49945090
ENSE00003903272	49955002	49955060
ENSE00003903662	49958370	49958480

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 97.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.7789 / max 63.2175, expressed in 1611 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
205864	4.7789	1611

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	97.28	gold quality
deltoid	UBERON:0001476	94.72	gold quality
ileal mucosa	UBERON:0000331	94.40	gold quality
left ventricle myocardium	UBERON:0006566	92.88	gold quality
quadriceps femoris	UBERON:0001377	92.41	gold quality
vastus lateralis	UBERON:0001379	92.30	gold quality
biceps brachii	UBERON:0001507	91.87	gold quality
pancreatic ductal cell	CL:0002079	90.76	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.30	gold quality
skeletal muscle tissue	UBERON:0001134	90.24	gold quality
kidney epithelium	UBERON:0004819	89.98	gold quality
nipple	UBERON:0002030	89.20	gold quality
jejunal mucosa	UBERON:0000399	89.16	gold quality
muscle tissue	UBERON:0002385	89.01	gold quality
jejunum	UBERON:0002115	88.23	gold quality
epithelial cell of pancreas	CL:0000083	88.14	silver quality
hindlimb stylopod muscle	UBERON:0004252	88.05	gold quality
caput epididymis	UBERON:0004358	87.09	gold quality
muscle of leg	UBERON:0001383	87.04	gold quality
gastrocnemius	UBERON:0001388	86.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.94	gold quality
cardia of stomach	UBERON:0001162	86.73	gold quality
trachea	UBERON:0003126	86.55	gold quality
pylorus	UBERON:0001166	86.25	gold quality
superficial temporal artery	UBERON:0001614	85.75	silver quality
myocardium	UBERON:0002349	85.68	silver quality
renal medulla	UBERON:0000362	85.27	gold quality
corpus epididymis	UBERON:0004359	85.19	gold quality
inferior vagus X ganglion	UBERON:0005363	85.06	gold quality
superior surface of tongue	UBERON:0007371	84.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting TIMM23B, 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-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-188-3P	100.00	68.76	1240
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-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-3681-5P	99.82	66.88	387

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	timm23a	ENSDARG00000071396
danio_rerio	timm23b	ENSDARG00000100375
mus_musculus	Timm23	ENSMUSG00000013701
rattus_norvegicus	Timm23-ps8	ENSRNOG00000019811
rattus_norvegicus	Timm23b	ENSRNOG00000031285
rattus_norvegicus	Timm23	ENSRNOG00000032900
drosophila_melanogaster	Tim23	FBGN0267976
caenorhabditis_elegans	timm-23	WBGENE00008857

Paralogs (1): TIMM23 (ENSG00000265354)

Protein

Protein identifiers

Mitochondrial import inner membrane translocase subunit Tim23B — Q5SRD1 (reviewed: Q5SRD1)

All UniProt accessions (2): A0A6Q8PGT7, Q5SRD1

UniProt curated annotations — full annotation on UniProt →

Function. May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. the PAM complex.

Subcellular location. Mitochondrion inner membrane.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q5SRD1-1	1	yes
Q5SRD1-2	2

RefSeq proteins (3): NP_001277046, NP_001277047, NP_001352800 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005681	Tim23	Family
IPR045238	Tim23-like	Family

Pfam: PF02466

UniProt features (4 total): transmembrane region 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SRD1-F1	55.11	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 73 (showing top): GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOCC_MITOCHONDRIAL_ENVELOPE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BENPORATH_NOS_TARGETS, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PROTEIN_TRANSMEMBRANE_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, DANG_BOUND_BY_MYC, GOBP_PROTEIN_IMPORT_INTO_MITOCHONDRIAL_MATRIX, GOBP_TRANSMEMBRANE_TRANSPORT, BENPORATH_OCT4_TARGETS, GOCC_ORGANELLE_INNER_MEMBRANE, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOCC_INNER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (2): protein import into mitochondrial matrix (GO:0030150), protein transport (GO:0015031)

GO Molecular Function (2): transmembrane protein transporter activity (GO:0008320), transmembrane transporter activity (GO:0022857)

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

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

32 interactions, top by confidence:

A	B	Type	Score
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
M	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
PB1	HAX1	psi-mi:“MI:0914”(association)	0.350
PB2	HAX1	psi-mi:“MI:0914”(association)	0.350
PB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	KPNA4	psi-mi:“MI:0914”(association)	0.350
NS1	HAX1	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
M2	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	SEC16A	psi-mi:“MI:0914”(association)	0.350
NS1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB1		psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
HRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
NRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
KRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
KRAS	IGKV2D-29	psi-mi:“MI:0914”(association)	0.350
OFD1	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
FBF1	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
SCLT1	VWA8	psi-mi:“MI:2364”(proximity)	0.270
CNTRL	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270

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: A4IFL0, O14925, O35093, Q5RDD0, Q5SRD1, Q5XH94, Q6INU6, Q7T2P6, Q9S837, Q9USM7, Q9WTQ8, Q38820, Q9LNQ1, P32897

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 28 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Anchoring of the basal body to the plasma membrane	5	40.4×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

570 predictions. Top by Δscore:

Variant	Effect	Δscore
10:49945030:A:AG	acceptor_gain	1.0000
10:49945031:G:GG	acceptor_gain	1.0000
10:49945031:GT:G	acceptor_gain	1.0000
10:49945031:GTA:G	acceptor_gain	1.0000
10:49945031:GTAA:G	acceptor_gain	1.0000
10:49952122:TTA:T	acceptor_loss	1.0000
10:49952124:A:AG	acceptor_gain	1.0000
10:49952124:AG:A	acceptor_gain	1.0000
10:49952125:G:A	acceptor_loss	1.0000
10:49952125:G:GA	acceptor_gain	1.0000
10:49952125:GG:G	acceptor_gain	1.0000
10:49952215:GACAG:G	donor_gain	1.0000
10:49952217:CAG:C	donor_gain	1.0000
10:49952219:GGTG:G	donor_loss	1.0000
10:49952220:G:GA	donor_loss	1.0000
10:49952220:G:GG	donor_gain	1.0000
10:49952529:GTACA:G	donor_gain	1.0000
10:49952534:G:GG	donor_gain	1.0000
10:49945026:CTCTA:C	acceptor_loss	0.9900
10:49945027:TCTA:T	acceptor_loss	0.9900
10:49945028:CTAG:C	acceptor_loss	0.9900
10:49945029:TA:T	acceptor_loss	0.9900
10:49945030:AGTAA:A	acceptor_loss	0.9900
10:49945031:G:GT	acceptor_loss	0.9900
10:49945031:GTAAC:G	acceptor_gain	0.9900
10:49945086:TGCAG:T	donor_loss	0.9900
10:49945088:CAGGT:C	donor_loss	0.9900
10:49945089:AGG:A	donor_loss	0.9900
10:49945090:GGTA:G	donor_loss	0.9900
10:49945091:G:T	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1046730 (10:49974396 C>G,T), RS1046739 (10:49974477 C>A,T), RS1046740 (10:49974486 A>G), RS1046741 (10:49974487 A>G,T), RS1046746 (10:49974532 C>G), RS1046754 (10:49974554 A>T), RS1061905 (10:49968994 C>A,T), RS10909668 (10:49956284 G>A), RS10997146 (10:49948843 A>G), RS10997147 (10:49948842 A>G), RS10997237 (10:49947764 G>A,C), RS10997246 (10:49947673 A>C), RS111265958 (10:49946995 C>T), RS111601021 (10:49967564 A>C,G), RS111637280 (10:49947296 T>C,G)

Disease associations

OMIM: gene MIM:620758 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005993_47	Mean corpuscular hemoglobin	7.000000e-36
GCST005996_32	Red blood cell count	2.000000e-10
GCST006011_79	Mean corpuscular volume	2.000000e-42
GCST007830_2	Anti-thyroid peroxidase (TPOAb) levels in Hashimoto’s thyroiditis	1.000000e-06
GCST007851_9	Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis	7.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	decreases expression, increases abundance	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Arsenic	decreases expression, increases abundance	1
Doxorubicin	affects expression	1
Estradiol	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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