TMEM62

Summary

TMEM62 (transmembrane protein 62, HGNC:26269) is a protein-coding gene on chromosome 15q15.2, encoding Transmembrane protein 62 (Q0P6H9).

Predicted to enable hydrolase activity. Predicted to be located in membrane.

Source: NCBI Gene 80021 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 95 total
• MANE Select transcript: NM_024956

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26269
Approved symbol	TMEM62
Name	transmembrane protein 62
Location	15q15.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23375
Ensembl gene	ENSG00000137842
Ensembl biotype	protein_coding
Entrez	80021

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 15 protein_coding, 5 retained_intron, 5 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000260403, ENST00000563859, ENST00000564494, ENST00000564698, ENST00000565291, ENST00000566122, ENST00000566308, ENST00000567441, ENST00000568182, ENST00000568197, ENST00000569369, ENST00000569535, ENST00000569897, ENST00000569926, ENST00000570109, ENST00000891125, ENST00000891126, ENST00000891127, ENST00000891128, ENST00000891129, ENST00000891130, ENST00000891131, ENST00000942995, ENST00000942996, ENST00000942997, ENST00000942998

RefSeq mRNA: 31 — MANE Select: NM_024956 NM_001347004, NM_001347005, NM_001347006, NM_001347007, NM_001347008, NM_001347009, NM_001347010, NM_001347011, NM_001347012, NM_001347013, NM_001347014, NM_001347015, NM_001347016, NM_001347017, NM_001347018, NM_001347019, NM_001347020, NM_001347021, NM_001347023, NM_001347024, NM_001347025, NM_001347026, NM_001347027, NM_001347028, NM_001347029, NM_001347030, NM_001347031, NM_001347032, NM_001347033, NM_001347034, NM_024956

CCDS: CCDS32210

Canonical transcript exons

ENST00000260403 — 14 exons

Exon	Start	End
ENSE00000679480	43154672	43154831
ENSE00000884233	43160681	43160794
ENSE00000884234	43151790	43151945
ENSE00001108019	43184260	43185144
ENSE00001356838	43133586	43133982
ENSE00003488461	43181181	43181299
ENSE00003492234	43135512	43135649
ENSE00003511545	43149029	43149151
ENSE00003512918	43148755	43148879
ENSE00003595389	43134257	43134368
ENSE00003628144	43169593	43169677
ENSE00003635432	43146493	43146634
ENSE00003649622	43178607	43178711
ENSE00003655802	43138574	43138619

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 90.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.2492 / max 95.3404, expressed in 1780 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146286	5.8164	1551
146287	2.6044	1348
146285	1.8284	1072

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	90.11	gold quality
cerebellar hemisphere	UBERON:0002245	90.04	gold quality
bone marrow cell	CL:0002092	90.02	gold quality
cerebellar cortex	UBERON:0002129	89.88	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.85	gold quality
mucosa of transverse colon	UBERON:0004991	89.58	gold quality
calcaneal tendon	UBERON:0003701	89.32	gold quality
rectum	UBERON:0001052	88.08	gold quality
granulocyte	CL:0000094	87.92	gold quality
islet of Langerhans	UBERON:0000006	87.82	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.57	gold quality
mucosa of stomach	UBERON:0001199	87.52	gold quality
transverse colon	UBERON:0001157	87.22	gold quality
minor salivary gland	UBERON:0001830	87.10	gold quality
lower esophagus mucosa	UBERON:0035834	86.71	gold quality
tibial nerve	UBERON:0001323	86.55	gold quality
cerebellum	UBERON:0002037	86.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.39	gold quality
body of pancreas	UBERON:0001150	86.11	gold quality
colonic epithelium	UBERON:0000397	85.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.92	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.86	gold quality
body of stomach	UBERON:0001161	85.65	gold quality
right lung	UBERON:0002167	85.55	gold quality
metanephros cortex	UBERON:0010533	85.40	gold quality
ventricular zone	UBERON:0003053	85.34	gold quality
tibial artery	UBERON:0007610	85.23	gold quality
popliteal artery	UBERON:0002250	85.21	gold quality
gall bladder	UBERON:0002110	85.18	gold quality
pancreas	UBERON:0001264	85.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting TMEM62, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
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-544A	99.84	68.66	1965
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-199A-3P	99.75	70.48	929

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem62	ENSDARG00000053890
mus_musculus	Tmem62	ENSMUSG00000054484
rattus_norvegicus	Tmem62	ENSRNOG00000023874

Protein

Protein identifiers

Transmembrane protein 62 — Q0P6H9 (reviewed: Q0P6H9)

All UniProt accessions (9): Q0P6H9, H3BN45, H3BPP8, H3BPV2, H3BQZ2, H3BRA3, H3BTT1, H3BU73, H3BVF7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (31): NP_001333933, NP_001333934, NP_001333935, NP_001333936, NP_001333937, NP_001333938, NP_001333939, NP_001333940, NP_001333941, NP_001333942, NP_001333943, NP_001333944, NP_001333945, NP_001333946, NP_001333947, NP_001333948, NP_001333949, NP_001333950, NP_001333952, NP_001333953, NP_001333954, NP_001333955, NP_001333956, NP_001333957, NP_001333958, NP_001333959, NP_001333960, NP_001333961, NP_001333962, NP_001333963, NP_079232* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004843	Calcineurin-like_PHP	Domain
IPR029052	Metallo-depent_PP-like	Homologous_superfamily
IPR041871	MPP_TMEM62	Domain
IPR056229	Ig_TMM62	Domain
IPR056230	TMEM62_C	Domain

Pfam: PF00149, PF24384, PF24394

UniProt features (11 total): transmembrane region 6, glycosylation site 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0P6H9-F1	92.02	0.80

Functional residue map

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

Glycosylation sites (3): 180, 467, 626

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 149 (showing top): MODULE_255, MODULE_317, AREB6_01, ACTGCAG_MIR173P, NKX61_01, EVI1_05, TGCTGAY_UNKNOWN, HP1SITEFACTOR_Q6, TGACATY_UNKNOWN, CYTAGCAAY_UNKNOWN, MYB_Q3, AML1_01, AP4_01, MYB_Q5_01, TGGAAA_NFAT_Q4_01

GO Biological Process (0):

GO Molecular Function (2): hydrolase activity (GO:0016787), protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
catalytic activity	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

887 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM62	TMEM132A	Q24JP5	512
TMEM62	ST8SIA5	O15466	484
TMEM62	TMEM164	Q5U3C3	478
TMEM62	TMEM131L	A2VDJ0	468
TMEM62	TMEM63C	Q9P1W3	405
TMEM62	SPRYD4	Q8WW59	403
TMEM62	SPRYD7	Q5W111	386
TMEM62	CDHR2	Q9BYE9	382
TMEM62	TMEM40	Q8WWA1	381
TMEM62	LYSMD3	Q7Z3D4	373
TMEM62	MAN1A1	P33908	369
TMEM62	PPP2R3C	Q969Q6	348
TMEM62	SARNP	P82979	335
TMEM62	TMED5	Q9Y3A6	327
TMEM62	DNAJC9	Q8WXX5	322

IntAct

22 interactions, top by confidence:

A	B	Type	Score
TMEM62	NPLOC4	psi-mi:“MI:0915”(physical association)	0.500
TMEM62	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
UPK1A	TMEM223	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLRN2	FAM234B	psi-mi:“MI:0914”(association)	0.350
KLRC4	RAP1BL	psi-mi:“MI:0914”(association)	0.350
SCN4A	C2CD4B	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
KLRC2	CLGN	psi-mi:“MI:0914”(association)	0.350
CD3D	CLGN	psi-mi:“MI:0914”(association)	0.350
KLRC3	RNF13	psi-mi:“MI:0914”(association)	0.350
TMEM62	CDSN	psi-mi:“MI:0914”(association)	0.350
CSE1L	TMEM62	psi-mi:“MI:0915”(physical association)	0.000
LTA4H	TMEM62	psi-mi:“MI:0915”(physical association)	0.000
APEH	TMEM62	psi-mi:“MI:0915”(physical association)	0.000
HSPA5	TMEM62	psi-mi:“MI:0915”(physical association)	0.000
PTPN6	TMEM62	psi-mi:“MI:0915”(physical association)	0.000
SLC25A6	TMEM62	psi-mi:“MI:0915”(physical association)	0.000
ZNF287	TMEM62	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): NPLOC4 (Affinity Capture-MS), UFD1L (Affinity Capture-MS), HERC3 (Affinity Capture-MS), TMEM62 (Affinity Capture-MS), TMEM62 (Two-hybrid), TMEM62 (Two-hybrid), TMEM62 (Two-hybrid), TMEM62 (Affinity Capture-MS), TMEM62 (Affinity Capture-MS), TMEM62 (Affinity Capture-MS), TMEM62 (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), TMEM62 (Affinity Capture-MS), TMEM62 (Affinity Capture-MS), TMEM62 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B5GR44, A0A0D3QS97, A1L314, A4IH88, A7MCS3, B9DFR3, E7F0Z8, F4I107, F4I839, O35298, O54728, O80731, P38566, P38567, P38568, P70683, Q03311, Q0P6H9, Q3TTY0, Q3UUQ7, Q3V5L5, Q4V398, Q5GF25, Q5RBP9, Q60963, Q66GM8, Q6DBP4, Q6E279, Q6NQ51, Q75T13, Q765A7, Q765H6, Q812F3, Q84JS1, Q84WF0, Q8BG22, Q8BXJ9, Q8N2E2, Q93ZR8, Q940J8

Diamond homologs: Q0P6H9, Q8BXJ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2465 predictions. Top by Δscore:

Variant	Effect	Δscore
15:43135510:AG:A	acceptor_gain	1.0000
15:43135511:GG:G	acceptor_gain	1.0000
15:43135511:GGA:G	acceptor_gain	1.0000
15:43135648:TGG:T	donor_loss	1.0000
15:43135650:G:A	donor_loss	1.0000
15:43135651:T:G	donor_loss	1.0000
15:43146594:GGCC:G	donor_gain	1.0000
15:43146595:GCC:G	donor_gain	1.0000
15:43146630:A:G	donor_gain	1.0000
15:43148748:A:AG	acceptor_gain	1.0000
15:43148749:T:G	acceptor_gain	1.0000
15:43148752:CAG:C	acceptor_loss	1.0000
15:43148753:A:AG	acceptor_gain	1.0000
15:43148754:G:GA	acceptor_gain	1.0000
15:43148754:GA:G	acceptor_gain	1.0000
15:43148754:GAA:G	acceptor_gain	1.0000
15:43148754:GAAA:G	acceptor_gain	1.0000
15:43148754:GAAAA:G	acceptor_gain	1.0000
15:43148877:GAG:G	donor_gain	1.0000
15:43148878:AGGT:A	donor_loss	1.0000
15:43148879:GGTG:G	donor_loss	1.0000
15:43148880:G:A	donor_loss	1.0000
15:43148881:T:G	donor_loss	1.0000
15:43149020:ATT:A	acceptor_gain	1.0000
15:43151942:TCAGG:T	donor_loss	1.0000
15:43151943:CAGGT:C	donor_loss	1.0000
15:43151944:AGG:A	donor_loss	1.0000
15:43151945:GGT:G	donor_loss	1.0000
15:43151946:G:GG	donor_gain	1.0000
15:43151947:T:A	donor_loss	1.0000

AlphaMissense

4227 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:43135571:T:A	W118R	0.998
15:43135571:T:C	W118R	0.998
15:43151795:G:C	R291P	0.998
15:43135625:T:A	W136R	0.997
15:43135625:T:C	W136R	0.997
15:43135573:G:C	W118C	0.996
15:43135573:G:T	W118C	0.996
15:43135515:A:T	D99V	0.995
15:43135526:G:C	A103P	0.994
15:43135515:A:C	D99A	0.993
15:43135645:T:A	N142K	0.993
15:43135645:T:G	N142K	0.993
15:43149135:T:A	W284R	0.993
15:43149135:T:C	W284R	0.993
15:43134261:C:T	S62F	0.992
15:43134269:C:G	H65D	0.992
15:43135515:A:G	D99G	0.992
15:43135516:C:A	D99E	0.992
15:43135516:C:G	D99E	0.992
15:43135640:G:A	G141R	0.992
15:43135640:G:C	G141R	0.992
15:43135641:G:T	G141V	0.992
15:43149121:T:C	L279P	0.992
15:43134264:A:T	D63V	0.991
15:43135648:T:A	H143Q	0.991
15:43135648:T:G	H143Q	0.991
15:43154778:T:A	W377R	0.991
15:43154778:T:C	W377R	0.991
15:43135512:G:T	G98V	0.990
15:43135572:G:C	W118S	0.990

dbSNP variants (sampled 300 via entrez): RS1000020246 (15:43137202 G>T), RS1000164823 (15:43172238 G>A), RS1000176170 (15:43168173 C>A,G,T), RS1000289051 (15:43168197 G>A,C), RS1000395794 (15:43185269 A>C), RS1000508385 (15:43167193 G>A), RS1000515651 (15:43160169 A>C,G), RS1000592090 (15:43158404 C>T), RS1000706083 (15:43167030 C>G,T), RS1000715393 (15:43173738 T>C), RS1000807073 (15:43168036 C>A,T), RS1000887594 (15:43136925 T>C,G), RS1001004731 (15:43152377 C>T), RS1001104454 (15:43166229 A>G), RS1001135681 (15:43173493 T>C)

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

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, decreases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Aflatoxin B1	increases methylation	2
beta-lapachone	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Cytarabine	increases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression, affects cotreatment	1
Vanadates	decreases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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