TOMM20L

Summary

TOMM20L (translocase of outer mitochondrial membrane 20 like, HGNC:33752) is a protein-coding gene on chromosome 14q23.1, encoding TOMM20-like protein 1 (Q6UXN7).

Predicted to enable mitochondrion targeting sequence binding activity. Predicted to contribute to protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix and tRNA import into mitochondrion. Predicted to be located in mitochondrial outer membrane. Predicted to be part of mitochondrial outer membrane translocase complex.

Source: NCBI Gene 387990 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 18 total — 2 likely-pathogenic
• MANE Select transcript: NM_207377

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33752
Approved symbol	TOMM20L
Name	translocase of outer mitochondrial membrane 20 like
Location	14q23.1
Locus type	gene with protein product
Status	Approved
Aliases	UNQ9438
Ensembl gene	ENSG00000196860
Ensembl biotype	protein_coding
Entrez	387990

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000360945, ENST00000557754

RefSeq mRNA: 1 — MANE Select: NM_207377 NM_207377

CCDS: CCDS9734

Canonical transcript exons

ENST00000360945 — 5 exons

Exon	Start	End
ENSE00001400220	58395930	58396093
ENSE00001405610	58402680	58402761
ENSE00001406845	58396298	58396341
ENSE00001428143	58408529	58408702
ENSE00003621351	58407326	58407468

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 95.49.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2451 / max 36.9890, expressed in 99 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139826	0.2344	99
139825	0.0106	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	95.49	silver quality
left testis	UBERON:0004533	83.26	gold quality
testis	UBERON:0000473	82.57	gold quality
right testis	UBERON:0004534	81.78	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.78	gold quality
calcaneal tendon	UBERON:0003701	65.01	gold quality
stromal cell of endometrium	CL:0002255	62.96	gold quality
mucosa of stomach	UBERON:0001199	62.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	60.87	gold quality
endometrium	UBERON:0001295	59.77	gold quality
right coronary artery	UBERON:0001625	58.94	gold quality
metanephros cortex	UBERON:0010533	58.43	gold quality
right uterine tube	UBERON:0001302	58.37	gold quality
urinary bladder	UBERON:0001255	58.22	gold quality
islet of Langerhans	UBERON:0000006	58.12	gold quality
fallopian tube	UBERON:0003889	57.94	gold quality
cortex of kidney	UBERON:0001225	57.41	gold quality
subcutaneous adipose tissue	UBERON:0002190	56.96	gold quality
leukocyte	CL:0000738	56.86	gold quality
monocyte	CL:0000576	56.74	gold quality
left adrenal gland	UBERON:0001234	56.34	gold quality
smooth muscle tissue	UBERON:0001135	56.07	gold quality
popliteal artery	UBERON:0002250	55.99	gold quality
tibial artery	UBERON:0007610	55.96	gold quality
placenta	UBERON:0001987	55.93	gold quality
corpus callosum	UBERON:0002336	55.93	gold quality
lower esophagus	UBERON:0013473	55.79	gold quality
lower esophagus muscularis layer	UBERON:0035833	55.73	gold quality
thoracic mammary gland	UBERON:0005200	55.62	gold quality
pancreas	UBERON:0001264	55.35	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting TOMM20L, 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-3688-3P	99.97	72.02	2834
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-376B-5P	98.46	66.40	606
HSA-MIR-376C-5P	98.46	66.64	589
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-1304-3P	98.29	66.44	1207
HSA-MIR-1263	98.13	69.18	459
HSA-MIR-5579-5P	96.32	68.54	730

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tomm20l	ENSMUSG00000021078
rattus_norvegicus	Tomm20l	ENSRNOG00000054663
drosophila_melanogaster	Tom20	FBGN0036928
drosophila_melanogaster	tomboy20	FBGN0037828
caenorhabditis_elegans		WBGENE00009092

Paralogs (1): TOMM20 (ENSG00000173726)

Protein

Protein identifiers

TOMM20-like protein 1 — Q6UXN7 (reviewed: Q6UXN7)

All UniProt accessions (2): G3V4A4, Q6UXN7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Mitochondrion outer membrane.

Similarity. Belongs to the Tom20 family.

RefSeq proteins (1): NP_997260* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002056	MAS20	Family
IPR022422	MAS20_rcpt_metazoan	Family
IPR023392	Tom20_dom_sf	Homologous_superfamily

Pfam: PF02064

UniProt features (6 total): topological domain 2, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXN7-F1	81.08	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 54 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, chr14q23, GOBP_PROTEIN_TRANSMEMBRANE_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_PROTEIN_IMPORT_INTO_MITOCHONDRIAL_MATRIX, GOBP_RNA_LOCALIZATION, GOBP_TRANSMEMBRANE_TRANSPORT, KONDO_PROSTATE_CANCER_HCP_WITH_H3K27ME3, GOCC_OUTER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (4): protein targeting (GO:0006605), intracellular protein transport (GO:0006886), tRNA import into mitochondrion (GO:0016031), protein import into mitochondrial matrix (GO:0030150)

GO Molecular Function (3): mitochondrion targeting sequence binding (GO:0030943), protein binding (GO:0005515), transmembrane protein transporter activity (GO:0008320)

GO Cellular Component (4): mitochondrial outer membrane translocase complex (GO:0005742), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
establishment of protein localization	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
RNA import into mitochondrion	1
tRNA transport	1
protein transmembrane import into intracellular organelle	1
protein localization to mitochondrion	1
import into the mitochondrion	1
mitochondrial protein import pathway	1
signal sequence receptor activity	1
binding	1
macromolecule transmembrane transporter activity	1
protein transmembrane transport	1
protein transporter activity	1
outer mitochondrial membrane protein complex	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

796 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TOMM20L	TMEM210	A6NLX4	598
TOMM20L	SMIM9	A6NGZ8	582
TOMM20L	TMEM35B	Q8NCS4	527
TOMM20L	TOMM22	Q9NS69	420
TOMM20L	SMIM8	Q96KF7	407
TOMM20L	TIMM9	Q9Y5J7	396
TOMM20L	MRNIP	Q6NTE8	392
TOMM20L	FIS1	Q9Y3D6	391
TOMM20L	SLC25A41	Q8N5S1	383
TOMM20L	TIMM17A	Q99595	376
TOMM20L	MFN1	Q8IWA4	367
TOMM20L	VDAC1	P21796	366
TOMM20L	CYCS	P00001	363
TOMM20L	TOMM70	O94826	349
TOMM20L	TOMM7	Q9P0U1	349

IntAct

15 interactions, top by confidence:

A	B	Type	Score
TOMM20L	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
FAM25C	TOMM20L	psi-mi:“MI:0915”(physical association)	0.560
GATC	TOMM20L	psi-mi:“MI:0915”(physical association)	0.560
RNF8	TOMM20L	psi-mi:“MI:0915”(physical association)	0.560
TOMM20L	ATXN3	psi-mi:“MI:0914”(association)	0.350
TOMM20L	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000
GATC	TOMM20L	psi-mi:“MI:0915”(physical association)	0.000
RNF8	TOMM20L	psi-mi:“MI:0915”(physical association)	0.000
TOMM20L	FAM25C	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): DNAJC12 (Affinity Capture-MS), ATXN3 (Affinity Capture-MS), ATXN3 (Affinity Capture-MS), DNAJC12 (Affinity Capture-MS), TOMM20L (Synthetic Lethality), TOMM20L (Two-hybrid), TOMM20L (Two-hybrid), TOMM20L (Two-hybrid), TOMM20L (Two-hybrid), GATC (Two-hybrid), FAM25C (Two-hybrid), ATXN3 (Affinity Capture-MS), DNAJC12 (Affinity Capture-MS)

ESM2 similar proteins: A2CI97, A5DIV5, A7MBC2, A8MW95, F1QNV4, J3QPZ5, O02799, O95822, P0DM65, P12617, P52630, Q0IHN5, Q1LXZ7, Q22592, Q2KJ22, Q3TBD2, Q3U1Y4, Q5F259, Q5FW14, Q5I0I8, Q5RB40, Q5U464, Q6DE55, Q6DHG8, Q6DKK2, Q6PBQ2, Q6UXN7, Q76LS9, Q7T0X5, Q86YJ7, Q8BHY2, Q8BWR8, Q8CDJ8, Q8HXG3, Q8IUC4, Q8K285, Q8K2H4, Q8TDY4, Q920F5, Q99J39

Diamond homologs: A6H7B1, A8Y3V5, Q15388, Q19766, Q5RA31, Q62760, Q6DFM9, Q6DH66, Q6UXN7, Q8AVY0, Q9D4V6, Q9DCC8, O14225

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
369984	GRCh37/hg19 14q23.1(chr14:58737402-58884615)x1	Likely pathogenic
369985	GRCh37/hg19 14q23.1(chr14:58737402-58891576)x1	Likely pathogenic

SpliceAI

543 predictions. Top by Δscore:

Variant	Effect	Δscore
14:58396089:GGACA:G	donor_gain	1.0000
14:58396090:GACA:G	donor_gain	1.0000
14:58396090:GACAG:G	donor_gain	1.0000
14:58396094:G:GG	donor_gain	1.0000
14:58407321:TTCA:T	acceptor_loss	1.0000
14:58407323:CAG:C	acceptor_loss	1.0000
14:58396050:G:GT	donor_gain	0.9900
14:58402678:A:AG	acceptor_gain	0.9900
14:58402679:G:GG	acceptor_gain	0.9900
14:58402679:GTT:G	acceptor_gain	0.9900
14:58407324:A:AG	acceptor_gain	0.9900
14:58407325:G:GC	acceptor_gain	0.9900
14:58407325:GGA:G	acceptor_gain	0.9900
14:58407325:GGAGA:G	acceptor_gain	0.9900
14:58396091:A:T	donor_gain	0.9800
14:58396093:AG:A	donor_loss	0.9800
14:58396094:GTG:G	donor_loss	0.9800
14:58396095:T:C	donor_loss	0.9800
14:58396096:G:GG	donor_loss	0.9800
14:58396097:AG:A	donor_loss	0.9800
14:58396098:G:C	donor_loss	0.9800
14:58402679:GTTGT:G	acceptor_gain	0.9800
14:58407324:AG:A	acceptor_gain	0.9800
14:58407325:GG:G	acceptor_gain	0.9800
14:58396092:CA:C	donor_gain	0.9700
14:58396097:A:AG	donor_gain	0.9600
14:58396098:G:GG	donor_gain	0.9600
14:58407323:CAGG:C	acceptor_gain	0.9600
14:58407324:AGGA:A	acceptor_gain	0.9600
14:58407325:GGAG:G	acceptor_gain	0.9600

AlphaMissense

996 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:58407430:T:C	F123L	0.908
14:58407432:T:A	F123L	0.908
14:58407432:T:G	F123L	0.908
14:58402719:T:C	F74L	0.816
14:58402721:C:A	F74L	0.816
14:58402721:C:G	F74L	0.816
14:58407403:T:C	F114L	0.807
14:58407405:C:A	F114L	0.807
14:58407405:C:G	F114L	0.807
14:58396010:G:A	G18D	0.800
14:58407340:G:T	G93W	0.797
14:58396072:T:C	F39L	0.783
14:58396074:C:A	F39L	0.783
14:58396074:C:G	F39L	0.783
14:58407340:G:A	G93R	0.782
14:58407340:G:C	G93R	0.782
14:58402753:T:C	L85S	0.771
14:58396009:G:C	G18R	0.760
14:58396019:C:A	A21D	0.756
14:58407349:C:G	H96D	0.744
14:58402740:G:A	G81R	0.736
14:58402740:G:C	G81R	0.736
14:58396077:G:C	K40N	0.733
14:58396077:G:T	K40N	0.733
14:58402741:G:A	G81E	0.721
14:58407326:G:T	G88V	0.718
14:58407404:T:C	F114S	0.708
14:58396028:G:A	G24D	0.707
14:58407452:T:C	I130T	0.707
14:58407341:G:A	G93E	0.702

dbSNP variants (sampled 300 via entrez): RS1000067104 (14:58402185 TTAAAA>T), RS1000199336 (14:58416477 C>T), RS1000200113 (14:58398051 A>T), RS1000242201 (14:58409647 C>T), RS1000296070 (14:58409959 G>A), RS1000330623 (14:58397707 G>C), RS1000417060 (14:58401934 T>A), RS1000477156 (14:58416109 T>G), RS1000605697 (14:58411763 C>A,T), RS1000851656 (14:58396789 C>CT), RS1000977099 (14:58403682 C>G), RS1001177257 (14:58417199 C>G), RS1001251105 (14:58411205 T>C), RS1001481317 (14:58403854 A>C), RS1001711797 (14:58417042 G>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): thyroid hemiagenesis (MONDO:0019860)

Orphanet (1): Thyroid hemiagenesis (Orphanet:95719)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010703_93	Brain morphology (MOSTest)	6.000000e-54

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
jinfukang	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Lead	affects methylation	1

Clinical trials (associated diseases)

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