TMEM141

Summary

TMEM141 (transmembrane protein 141, HGNC:28211) is a protein-coding gene on chromosome 9q34.3, encoding Transmembrane protein 141 (Q96I45).

Located in mitochondrion.

Source: NCBI Gene 85014 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 29 total
• MANE Select transcript: NM_032928

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28211
Approved symbol	TMEM141
Name	transmembrane protein 141
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC14141
Ensembl gene	ENSG00000244187
Ensembl biotype	protein_coding
Entrez	85014

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000290079, ENST00000465017, ENST00000479737, ENST00000483187, ENST00000484854, ENST00000489739, ENST00000885942, ENST00000885943, ENST00000885944, ENST00000929970, ENST00000929971, ENST00000929972

RefSeq mRNA: 1 — MANE Select: NM_032928 NM_032928

CCDS: CCDS7007

Canonical transcript exons

ENST00000290079 — 5 exons

Exon	Start	End
ENSE00001571453	136791344	136791424
ENSE00001889637	136792819	136793317
ENSE00003496095	136792251	136792358
ENSE00003609548	136791711	136791777
ENSE00003673480	136791947	136792030

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.9680 / max 347.7203, expressed in 1817 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99542	30.8685	1816
99541	1.0995	704

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	98.76	gold quality
lower esophagus mucosa	UBERON:0035834	98.75	gold quality
rectum	UBERON:0001052	97.70	gold quality
apex of heart	UBERON:0002098	97.28	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.09	gold quality
kidney epithelium	UBERON:0004819	96.96	gold quality
right lobe of liver	UBERON:0001114	96.86	gold quality
right lobe of thyroid gland	UBERON:0001119	96.78	gold quality
transverse colon	UBERON:0001157	96.75	gold quality
adenohypophysis	UBERON:0002196	96.55	gold quality
metanephros cortex	UBERON:0010533	96.53	gold quality
body of pancreas	UBERON:0001150	96.44	gold quality
left lobe of thyroid gland	UBERON:0001120	96.35	gold quality
spinal cord	UBERON:0002240	96.34	gold quality
esophagus mucosa	UBERON:0002469	96.21	gold quality
adult mammalian kidney	UBERON:0000082	96.15	gold quality
right atrium auricular region	UBERON:0006631	95.84	gold quality
anterior cingulate cortex	UBERON:0009835	95.80	gold quality
body of stomach	UBERON:0001161	95.78	gold quality
pituitary gland	UBERON:0000007	95.72	gold quality
thyroid gland	UBERON:0002046	95.72	gold quality
cardiac atrium	UBERON:0002081	95.64	gold quality
left ventricle myocardium	UBERON:0006566	95.64	gold quality
prefrontal cortex	UBERON:0000451	95.60	gold quality
right uterine tube	UBERON:0001302	95.48	gold quality
skin of abdomen	UBERON:0001416	95.41	gold quality
upper arm skin	UBERON:0004263	95.38	gold quality
substantia nigra	UBERON:0002038	95.29	gold quality
prostate gland	UBERON:0002367	95.28	gold quality
heart left ventricle	UBERON:0002084	95.20	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8410	yes	49.59
E-MTAB-9388	yes	16.08
E-MTAB-10042	yes	14.09
E-MTAB-8271	yes	7.15
E-MTAB-8205	no	885.31
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting TMEM141, 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-6798-5P	100.00	65.77	699
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-29A-5P	99.08	68.59	1813
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-324-5P	95.68	65.20	560
HSA-MIR-5009-5P	94.82	63.89	775
HSA-MIR-8058	94.76	63.41	632
HSA-MIR-4754	88.00	62.03	37

Literature-anchored findings (GeneRIF, showing 1)

• Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5. (PMID:37837560)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem141	ENSDARG00000101963
mus_musculus	Tmem141	ENSMUSG00000026939
rattus_norvegicus	Tmem141	ENSRNOG00000028254
drosophila_melanogaster	CG42488	FBGN0259991

Paralogs (3): ODAD1 (ENSG00000105479), CCDC63 (ENSG00000173093), ODAD3 (ENSG00000198003)

Protein

Protein identifiers

Transmembrane protein 141 — Q96I45 (reviewed: Q96I45)

All UniProt accessions (1): Q96I45

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM141 family.

RefSeq proteins (1): NP_116317* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026788	Tmem141	Family
IPR038259	Tmem141_sf	Homologous_superfamily

Pfam: PF15110

UniProt features (10 total): helix 5, transmembrane region 2, strand 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2LOR	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96I45-F1	63.22	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 93 (showing top): GOLDRATH_IMMUNE_MEMORY, BOYLAN_MULTIPLE_MYELOMA_D_DN, NUYTTEN_EZH2_TARGETS_DN, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, MIKKELSEN_ES_ICP_WITH_H3K4ME3, LI_INDUCED_T_TO_NATURAL_KILLER_UP, LU_EZH2_TARGETS_UP, CHYLA_CBFA2T3_TARGETS_UP, FOSTER_KDM1A_TARGETS_DN, DURAND_STROMA_NS_UP, chr9q34, GLI3_TARGET_GENES, NPAT_TARGET_GENES, ZNF213_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): mitochondrion (GO:0005739), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

378 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM141	CCDC183	Q5T5S1	628
TMEM141	TMEM244	Q5VVB8	593
TMEM141	LCN12	Q6JVE5	577
TMEM141	MAMDC4	Q6UXC1	549
TMEM141	PUSL1	Q8N0Z8	540
TMEM141	LCN10	Q6JVE6	521
TMEM141	PHPT1	Q9NRX4	508
TMEM141	RSRC1	Q96IZ7	490
TMEM141	ZBTB4	Q9P1Z0	444
TMEM141	GANAB	Q14697	441
TMEM141	ABCA2	Q9BZC7	410
TMEM141	DPY19L4	Q7Z388	404
TMEM141	FOXP4	Q8IVH2	401
TMEM141	SPAG7	O75391	378
TMEM141	TMEM14A	Q9Y6G1	378

IntAct

11 interactions, top by confidence:

A	B	Type	Score
FAM209A	TMEM141	psi-mi:“MI:0915”(physical association)	0.560
TMEM141	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
TMEM141	JPH3	psi-mi:“MI:0915”(physical association)	0.560
TMEM141	UBA52	psi-mi:“MI:0914”(association)	0.350
TMEM141	FAM209A	psi-mi:“MI:0915”(physical association)	0.000
TMEM141	ERGIC3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): TMEM141 (Affinity Capture-RNA), TMEM141 (Affinity Capture-RNA), TMEM141 (Affinity Capture-RNA), TMEM141 (Two-hybrid), TMEM141 (Two-hybrid), CRNN (Affinity Capture-MS), UBA52 (Affinity Capture-MS), TMEM141 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP01, A2AJB2, A3LP48, A5DJS9, A5E5Y6, A7TQD5, B2RZD2, B9WD58, C4XZH2, C4YPM0, C5DE77, C5DQU6, C5M8B9, G2TRP9, O22912, O95167, P0DN34, P0DN35, P19173, Q02371, Q04935, Q0D285, Q0MQ95, Q12082, Q2KP58, Q3E776, Q3E823, Q3SZU9, Q42841, Q56VL3, Q59LP6, Q6BYM1, Q6C0R5, Q6CMH6, Q75D07, Q86IZ2, Q8IUX1, Q8VY39, Q8VY40, Q941A6

Diamond homologs: A2AJB2, Q0D285, Q3SZU9, Q96I45

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

782 predictions. Top by Δscore:

Variant	Effect	Δscore
9:136792247:A:AG	acceptor_gain	1.0000
9:136792249:A:AG	acceptor_gain	1.0000
9:136792250:G:GA	acceptor_gain	1.0000
9:136792250:GTT:G	acceptor_gain	1.0000
9:136792354:CACAG:C	donor_loss	1.0000
9:136792355:ACAGG:A	donor_loss	1.0000
9:136792356:CAGGT:C	donor_loss	1.0000
9:136792357:AGG:A	donor_loss	1.0000
9:136792358:GG:G	donor_loss	1.0000
9:136792359:GTGA:G	donor_loss	1.0000
9:136792360:T:A	donor_loss	1.0000
9:136791422:CCGGT:C	donor_loss	0.9900
9:136791423:CGG:C	donor_loss	0.9900
9:136791424:GGTG:G	donor_loss	0.9900
9:136791425:G:GG	donor_gain	0.9900
9:136791425:GT:G	donor_loss	0.9900
9:136791426:T:A	donor_loss	0.9900
9:136791427:GA:G	donor_loss	0.9900
9:136792241:T:A	acceptor_gain	0.9900
9:136792248:C:G	acceptor_gain	0.9900
9:136792249:AGT:A	acceptor_loss	0.9900
9:136792249:AGTT:A	acceptor_gain	0.9900
9:136792250:GT:G	acceptor_gain	0.9900
9:136792250:GTTG:G	acceptor_gain	0.9900
9:136792250:GTTGC:G	acceptor_gain	0.9900
9:136791423:CGGT:C	donor_loss	0.9800
9:136791424:GGTGA:G	donor_loss	0.9800
9:136791425:GTG:G	donor_loss	0.9800
9:136791463:G:GT	donor_gain	0.9800
9:136791987:G:GT	donor_gain	0.9800

AlphaMissense

705 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:136792268:A:C	S75R	0.985
9:136792270:C:A	S75R	0.985
9:136792270:C:G	S75R	0.985
9:136792301:T:A	C86S	0.965
9:136792302:G:C	C86S	0.965
9:136792315:G:C	W90C	0.959
9:136792315:G:T	W90C	0.959
9:136791756:G:C	G34R	0.943
9:136791732:T:A	C26S	0.939
9:136791733:G:C	C26S	0.939
9:136792301:T:C	C86R	0.938
9:136791947:G:A	G41D	0.931
9:136791724:A:G	Y23C	0.929
9:136791732:T:C	C26R	0.927
9:136792302:G:A	C86Y	0.927
9:136791777:G:C	G41R	0.925
9:136792256:G:C	G71R	0.924
9:136792302:G:T	C86F	0.923
9:136791733:G:A	C26Y	0.919
9:136791419:C:G	H17D	0.917
9:136792257:G:A	G71D	0.916
9:136792303:C:G	C86W	0.906
9:136791724:A:C	Y23S	0.904
9:136791757:G:A	G34D	0.903
9:136792319:T:C	F92L	0.899
9:136792321:C:A	F92L	0.899
9:136792321:C:G	F92L	0.899
9:136791723:T:G	Y23D	0.895
9:136791772:T:A	V39D	0.892
9:136791723:T:C	Y23H	0.887

dbSNP variants (sampled 300 via entrez): RS1000046607 (9:136793779 C>G,T), RS1000057128 (9:136789807 G>A,C), RS1000071872 (9:136791040 C>A,T), RS1000141204 (9:136793442 C>A), RS1000248751 (9:136792918 C>A,T), RS1000299613 (9:136793138 G>A), RS1000354070 (9:136793425 G>A), RS1002939902 (9:136792126 C>A,G,T), RS1003328715 (9:136790891 G>A,T), RS1003351514 (9:136789843 T>C), RS1003708519 (9:136789478 G>A), RS1004182089 (9:136791290 T>C,G), RS1004468898 (9:136792887 C>G), RS1005670509 (9:136789946 G>A,T), RS1006087084 (9:136793738 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	5
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
corosolic acid	increases expression	1
K 7174	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Vehicle Emissions	increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Hydrogen Peroxide	affects expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Aflatoxin B1	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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