TMEM71

Summary

TMEM71 (transmembrane protein 71, HGNC:26572) is a protein-coding gene on chromosome 8q24.22, encoding Transmembrane protein 71 (Q6P5X7).

Located in mitochondrion.

Source: NCBI Gene 137835 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_001382403

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26572
Approved symbol	TMEM71
Name	transmembrane protein 71
Location	8q24.22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ33069
Ensembl gene	ENSG00000165071
Ensembl biotype	protein_coding
OMIM	620287
Entrez	137835

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 17 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000356838, ENST00000377901, ENST00000517538, ENST00000519016, ENST00000519187, ENST00000519304, ENST00000522334, ENST00000522594, ENST00000522780, ENST00000523829, ENST00000524079, ENST00000677595, ENST00000872711, ENST00000872712, ENST00000872713, ENST00000872714, ENST00000872715, ENST00000872716, ENST00000963931, ENST00000963932

RefSeq mRNA: 13 — MANE Select: NM_001382403 NM_001145153, NM_001364885, NM_001382396, NM_001382397, NM_001382398, NM_001382399, NM_001382400, NM_001382401, NM_001382402, NM_001382403, NM_001382404, NM_001382405, NM_144649

CCDS: CCDS47921, CCDS6366, CCDS94342, CCDS94343

Canonical transcript exons

ENST00000677595 — 10 exons

Exon	Start	End
ENSE00001089966	132727798	132727986
ENSE00001089967	132722040	132722115
ENSE00001089968	132713995	132714052
ENSE00001089981	132714154	132714215
ENSE00001475449	132746942	132747114
ENSE00002111325	132760476	132760582
ENSE00003462937	132751785	132751997
ENSE00003474133	132758840	132758915
ENSE00003595678	132757234	132757294
ENSE00003908330	132709941	132710982

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 96.87.

FANTOM5 (CAGE): breadth broad, TPM avg 7.2138 / max 1185.0344, expressed in 499 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95066	5.6473	418
95068	0.3255	132
95067	0.3106	123
95065	0.2913	70
95069	0.2480	94
95070	0.1950	88
95063	0.0906	29
95064	0.0745	33
95072	0.0164	7
95071	0.0146	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	96.87	gold quality
leukocyte	CL:0000738	96.25	gold quality
monocyte	CL:0000576	96.24	gold quality
granulocyte	CL:0000094	96.16	gold quality
apex of heart	UBERON:0002098	95.30	gold quality
bone marrow	UBERON:0002371	93.56	gold quality
left ventricle myocardium	UBERON:0006566	92.24	gold quality
bone marrow cell	CL:0002092	92.17	gold quality
trabecular bone tissue	UBERON:0002483	91.67	gold quality
heart left ventricle	UBERON:0002084	90.32	gold quality
cardiac ventricle	UBERON:0002082	89.85	gold quality
vermiform appendix	UBERON:0001154	88.16	gold quality
spleen	UBERON:0002106	88.16	gold quality
cardiac muscle of right atrium	UBERON:0003379	87.10	silver quality
heart	UBERON:0000948	86.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.10	gold quality
right atrium auricular region	UBERON:0006631	85.79	gold quality
cardiac atrium	UBERON:0002081	85.64	gold quality
colonic epithelium	UBERON:0000397	85.38	gold quality
myocardium	UBERON:0002349	85.20	silver quality
calcaneal tendon	UBERON:0003701	84.84	gold quality
thymus	UBERON:0002370	83.74	gold quality
palpebral conjunctiva	UBERON:0001812	83.31	gold quality
lymph node	UBERON:0000029	83.01	gold quality
right lung	UBERON:0002167	82.86	gold quality
epithelium of nasopharynx	UBERON:0001951	81.32	gold quality
caecum	UBERON:0001153	80.95	gold quality
gall bladder	UBERON:0002110	80.46	gold quality
muscle layer of sigmoid colon	UBERON:0035805	79.83	gold quality
nasal cavity epithelium	UBERON:0005384	79.19	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-46	yes	12.39
E-ANND-3	yes	7.88
E-MTAB-11268	no	855.02

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ING2

miRNA regulators (miRDB)

57 targeting TMEM71, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-3609	99.52	69.89	2587

Literature-anchored findings (GeneRIF, showing 1)

• Molecular and clinical characterization of TMEM71 expression at the transcriptional level in glioma. (PMID:31180187)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem71	ENSDARG00000079784
mus_musculus	Tmem71	ENSMUSG00000036944
rattus_norvegicus	Tmem71	ENSRNOG00000025460

Protein

Protein identifiers

Transmembrane protein 71 — Q6P5X7 (reviewed: Q6P5X7)

All UniProt accessions (7): Q6P5X7, E5RGD3, E5RH69, E5RHR5, E5RIQ3, E5RJJ0, H0YB65

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM71 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6P5X7-1	1	yes
Q6P5X7-2	2
Q6P5X7-3	3

RefSeq proteins (13): NP_001138625, NP_001351814, NP_001369325, NP_001369326, NP_001369327, NP_001369328, NP_001369329, NP_001369330, NP_001369331, NP_001369332, NP_001369333, NP_001369334, NP_653250 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027975	TMEM71	Family

Pfam: PF15121

UniProt features (7 total): transmembrane region 2, splice variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P5X7-F1	57.19	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 177 (showing top): GAANYNYGACNY_UNKNOWN, TGACCTY_ERR1_Q2, MEF2_02, TAL1ALPHAE47_01, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, TGCTGAY_UNKNOWN, GATA6_01, AFP1_Q6, GFI1_01, RYTTCCTG_ETS2_B, GATA4_Q3, MEF2_Q6_01, CETS1P54_01, TAL1BETAE47_01

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

546 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM71	KLHDC8A	Q8IYD2	496
TMEM71	CCDC18	Q5T9S5	441
TMEM71	FAM228A	Q86W67	435
TMEM71	RIMS2	Q9UQ26	432
TMEM71	RAB42	Q8N4Z0	420
TMEM71	HCFC1R1	Q9NWW0	398
TMEM71	GPR21	Q99679	374
TMEM71	C2orf74	A8MZ97	370
TMEM71	PRRT3	Q5FWE3	370
TMEM71	TMEM151A	Q8N4L1	345
TMEM71	GAS2L3	Q86XJ1	343
TMEM71	EFR3A	Q14156	334
TMEM71	UTS2	O95399	326
TMEM71	TMEM86A	Q8N2M4	324
TMEM71	NOCT	Q9UK39	319

IntAct

1 interactions, top by confidence:

BioGRID (6): TMEM71 (Two-hybrid), TCEA2 (Two-hybrid), YIPF6 (Two-hybrid), TUSC5 (Two-hybrid), FAM3C (Two-hybrid), TMX2 (Two-hybrid)

ESM2 similar proteins: A0A140LFM6, A0A2K1J5A5, A0A2K1JJ00, A0JMD2, A2BIL8, A4IGV6, A6NKB5, B0S728, B3DHS1, C5DZR8, F1QPR4, F1QR98, O44535, O70343, P0CAX8, Q0P4S0, Q149F5, Q1LV19, Q1RMQ5, Q28J76, Q3ZBS1, Q4V7H1, Q5DU28, Q5REU9, Q5ZM13, Q62417, Q641I1, Q6AXJ7, Q6DDX3, Q6DFB0, Q6GP60, Q6NWJ0, Q6P5X7, Q6P6I6, Q6P9N1, Q6PEV8, Q7T346, Q80W69, Q865B7, Q8BLN6

Diamond homologs: B0S728, Q149F5, Q6P5X7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1553 predictions. Top by Δscore:

Variant	Effect	Δscore
8:132714058:G:GC	acceptor_gain	1.0000
8:132746937:CTCA:C	donor_loss	1.0000
8:132746938:TCA:T	donor_loss	1.0000
8:132746939:CA:C	donor_loss	1.0000
8:132746940:A:AC	donor_gain	1.0000
8:132746941:C:CA	donor_loss	1.0000
8:132746941:C:CC	donor_gain	1.0000
8:132751998:C:CC	acceptor_gain	1.0000
8:132756188:T:TA	donor_gain	1.0000
8:132756189:C:A	donor_gain	1.0000
8:132758838:A:AC	donor_gain	1.0000
8:132758839:C:CC	donor_gain	1.0000
8:132710978:CAAAC:C	acceptor_gain	0.9900
8:132710980:AACC:A	acceptor_loss	0.9900
8:132710982:CCTAG:C	acceptor_loss	0.9900
8:132710983:C:CA	acceptor_loss	0.9900
8:132746936:ACTC:A	donor_loss	0.9900
8:132746940:AC:A	donor_gain	0.9900
8:132746941:CC:C	donor_gain	0.9900
8:132746941:CCA:C	donor_gain	0.9900
8:132746972:T:TA	donor_gain	0.9900
8:132747058:C:CC	acceptor_gain	0.9900
8:132747115:C:CC	acceptor_gain	0.9900
8:132751779:GCTTA:G	donor_loss	0.9900
8:132751780:CTTA:C	donor_loss	0.9900
8:132751781:TTACC:T	donor_loss	0.9900
8:132751782:T:TG	donor_loss	0.9900
8:132751783:A:C	donor_loss	0.9900
8:132751784:C:CT	donor_loss	0.9900
8:132751784:CCTAA:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000064989 (8:132737594 T>C), RS1000077506 (8:132709689 G>C), RS1000083696 (8:132747734 T>C,G), RS1000122942 (8:132769660 G>A), RS1000128098 (8:132765005 A>G,T), RS1000213886 (8:132772947 A>G), RS1000227915 (8:132708573 T>C), RS1000234543 (8:132725585 T>C), RS1000300962 (8:132720595 A>G), RS1000371988 (8:132737338 C>T), RS1000375528 (8:132747528 G>T), RS1000379709 (8:132753860 T>C), RS1000381099 (8:132742646 G>T), RS1000413720 (8:132709950 T>C), RS1000429670 (8:132715136 G>A)

Disease associations

OMIM: gene MIM:620287 | 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
GCST010653_34	Thyroid stimulating hormone levels	6.000000e-27

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Cyclosporine	increases expression	2
bisphenol F	affects cotreatment, decreases methylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sulforaphane	increases expression	1
benzo(e)pyrene	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
clothianidin	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	decreases expression	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Folic Acid	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Methotrexate	affects cotreatment, decreases expression	1
Nickel	increases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Valproic Acid	increases expression	1
Vanadates	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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