TMEM72

Summary

TMEM72 (transmembrane protein 72, HGNC:31658) is a protein-coding gene on chromosome 10q11.21, encoding Transmembrane protein 72 (A0PK05).

This gene encodes a transmembrane protein which may be expressed specifically in the kidney.

Source: NCBI Gene 643236 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001123376

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31658
Approved symbol	TMEM72
Name	transmembrane protein 72
Location	10q11.21
Locus type	gene with protein product
Status	Approved
Aliases	bA285G1.3, KSP37
Ensembl gene	ENSG00000187783
Ensembl biotype	protein_coding
Entrez	643236

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000389583, ENST00000460364, ENST00000544540

RefSeq mRNA: 2 — MANE Select: NM_001123376 NM_001123376, NM_001345926

CCDS: CCDS41504, CCDS86085

Canonical transcript exons

ENST00000389583 — 5 exons

Exon	Start	End
ENSE00001364709	44911337	44911582
ENSE00001368456	44927921	44927987
ENSE00001506285	44934656	44937010
ENSE00003481770	44931998	44932069
ENSE00003579824	44933637	44933776

Expression profiles

Bgee: expression breadth ubiquitous, 108 present calls, max score 93.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2348 / max 91.6736, expressed in 58 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104770	0.0618	19
104769	0.0579	24
104768	0.0527	18
104772	0.0446	7
104773	0.0116	3
104771	0.0063	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
renal medulla	UBERON:0000362	93.83	gold quality
adult mammalian kidney	UBERON:0000082	91.70	gold quality
nasal cavity epithelium	UBERON:0005384	91.03	silver quality
pigmented layer of retina	UBERON:0001782	89.95	gold quality
metanephros cortex	UBERON:0010533	89.50	gold quality
kidney	UBERON:0002113	89.39	gold quality
sperm	CL:0000019	85.19	gold quality
metanephros	UBERON:0000081	83.12	gold quality
mucosa of transverse colon	UBERON:0004991	82.74	gold quality
cortex of kidney	UBERON:0001225	82.60	gold quality
cerebellar vermis	UBERON:0004720	81.10	silver quality
subthalamic nucleus	UBERON:0001906	79.83	silver quality
vena cava	UBERON:0004087	78.99	gold quality
rectum	UBERON:0001052	78.55	gold quality
dorsal plus ventral thalamus	UBERON:0001897	78.44	silver quality
ventral tegmental area	UBERON:0002691	78.18	silver quality
inferior vagus X ganglion	UBERON:0005363	78.10	silver quality
substantia nigra pars reticulata	UBERON:0001966	78.05	gold quality
trigeminal ganglion	UBERON:0001675	77.91	gold quality
substantia nigra pars compacta	UBERON:0001965	77.68	silver quality
lateral nuclear group of thalamus	UBERON:0002736	77.68	silver quality
cardia of stomach	UBERON:0001162	77.67	gold quality
tongue	UBERON:0001723	77.64	silver quality
body of tongue	UBERON:0011876	77.63	silver quality
lateral globus pallidus	UBERON:0002476	77.48	silver quality
pharyngeal mucosa	UBERON:0000355	77.46	silver quality
superior surface of tongue	UBERON:0007371	77.44	silver quality
pericardium	UBERON:0002407	77.26	silver quality
trachea	UBERON:0003126	77.15	silver quality
dorsal root ganglion	UBERON:0000044	77.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	40.11
E-ANND-3	no	1.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting TMEM72, 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-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6815-3P	99.13	68.98	1530

Literature-anchored findings (GeneRIF, showing 1)

• ER export signals mediate plasma membrane localization of transmembrane protein TMEM72. (PMID:36478074)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem72	ENSDARG00000069332
mus_musculus	Tmem72	ENSMUSG00000048108
rattus_norvegicus	Tmem72	ENSRNOG00000023340

Protein

Protein identifiers

Transmembrane protein 72 — A0PK05 (reviewed: A0PK05)

Alternative names: Kidney-specific secretory protein of 37 kDa

All UniProt accessions (1): A0PK05

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane. Early endosome membrane Cytoplasm. Nucleus.

Isoforms (2)

UniProt ID	Names	Canonical?
A0PK05-1	1	yes
A0PK05-2	2

RefSeq proteins (2): NP_001116848, NP_001332855 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032055	TMEM72	Family

Pfam: PF16054

UniProt features (13 total): topological domain 4, transmembrane region 3, compositionally biased region 2, region of interest 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0PK05-F1	57.48	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): SABATES_COLORECTAL_ADENOMA_DN, LEIN_CHOROID_PLEXUS_MARKERS, GOCC_EARLY_ENDOSOME_MEMBRANE, DODD_NASOPHARYNGEAL_CARCINOMA_DN, CHYLA_CBFA2T3_TARGETS_DN, GOCC_ENDOSOME_MEMBRANE, MIR1299, MIR670_5P, MIR6728_3P, MIR6747_3P, MIR5580_5P, MIR3127_3P, MIR6756_3P, MIR4659B_5P, MIR3194_3P

GO Biological Process (0):

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

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020), early endosome membrane (GO:0031901)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
early endosome	1
endosome membrane	1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM72	TMEM116	Q8NCL8	623
TMEM72	RNF181	Q9P0P0	476
TMEM72	TMEM213	A2RRL7	447
TMEM72	C7orf57	Q8NEG2	446
TMEM72	INSYN2B	A6NMK8	435
TMEM72	TMEM61	Q8N0U2	400
TMEM72	SMIM13	P0DJ93	394
TMEM72	RDM1	Q8NG50	379
TMEM72	TRAPPC13	A5PLN9	376
TMEM72	ERICH6	Q7L0X2	374
TMEM72	C22orf42	Q6IC83	374
TMEM72	TMEM207	Q6UWW9	371
TMEM72	RTP3	Q9BQQ7	370
TMEM72	OR13A1	Q8NGR1	370
TMEM72	LUZP2	Q86TE4	367

IntAct

32 interactions, top by confidence:

A	B	Type	Score
MS4A1	TMEM72	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	SLC35A5	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	BCL2L13	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	LENEP	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	PIGY	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	FAM209A	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	GJA8	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	MS4A1	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	CERS4	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	FXYD6	psi-mi:“MI:0915”(physical association)	0.560
TMEM72	MGST3	psi-mi:“MI:0914”(association)	0.350
TMEM72	BCL2L13	psi-mi:“MI:0915”(physical association)	0.000
TMEM72	LENEP	psi-mi:“MI:0915”(physical association)	0.000
TMEM72	GJA8	psi-mi:“MI:0915”(physical association)	0.000
TMEM72	CERS4	psi-mi:“MI:0915”(physical association)	0.000
TMEM72	TMEM237	psi-mi:“MI:0915”(physical association)	0.000
FXYD6	TMEM72	psi-mi:“MI:0915”(physical association)	0.000
TMEM72	PIGY	psi-mi:“MI:0915”(physical association)	0.000
TMEM72	FAM209A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (40): TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), TMEM72 (Two-hybrid), PIGY (Two-hybrid), GGCX (Affinity Capture-MS), SYNJ2BP (Affinity Capture-MS), PTDSS2 (Affinity Capture-MS), SLC1A1 (Affinity Capture-MS), APOB (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GRQ0, A0A1B0GSZ0, A0A1B0GVT2, A0A590UK83, A0PK05, A2VDU1, A2VE22, A4QNL6, A5D7B5, A5D992, O43609, O75324, P0DKX4, P29414, P61807, P61808, Q0VFM5, Q15053, Q16655, Q17Q87, Q1L0X2, Q2KIK3, Q2TBG9, Q3MHM8, Q498C7, Q4V921, Q58CU5, Q5RBD8, Q5RF07, Q5RGQ8, Q64448, Q6UWT2, Q80ZU4, Q8BGN6, Q8BUM6, Q8C3K5, Q8C817, Q8K1D8, Q8N6S5, Q91VT8

Diamond homologs: A0PK05, Q8C3K5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1774 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:44933734:T:C	C103R	0.982
10:44934656:G:A	G117D	0.981
10:44933737:T:C	F104L	0.980
10:44933739:C:A	F104L	0.980
10:44933739:C:G	F104L	0.980
10:44933758:T:A	W111R	0.979
10:44933758:T:C	W111R	0.979
10:44933776:G:C	G117R	0.978
10:44933704:T:C	F93L	0.975
10:44933706:C:A	F93L	0.975
10:44933706:C:G	F93L	0.975
10:44934665:T:A	L120H	0.972
10:44934676:G:C	G124R	0.972
10:44911564:G:C	G18R	0.970
10:44927936:G:A	G29D	0.969
10:44927984:T:C	L45P	0.969
10:44933736:C:G	C103W	0.969
10:44927935:G:C	G29R	0.968
10:44933760:G:C	W111C	0.965
10:44933760:G:T	W111C	0.965
10:44933771:T:C	I115T	0.963
10:44934677:G:A	G124D	0.962
10:44932005:G:A	G49R	0.960
10:44932005:G:C	G49R	0.960
10:44933771:T:A	I115N	0.958
10:44933738:T:C	F104S	0.957
10:44934817:T:C	F171L	0.956
10:44934819:C:A	F171L	0.956
10:44934819:C:G	F171L	0.956
10:44933774:C:G	P116R	0.954

dbSNP variants (sampled 300 via entrez): RS1000060769 (10:44915276 T>A), RS1000178908 (10:44911828 C>T), RS1000195169 (10:44921122 C>A), RS1000344360 (10:44926643 C>G), RS1000345928 (10:44924486 CAGA>C), RS1000433325 (10:44915457 C>T), RS1000455086 (10:44920077 G>A,T), RS1000598396 (10:44918158 G>A), RS1000776788 (10:44925891 A>G), RS1001083197 (10:44925624 G>A), RS1001310112 (10:44929728 T>G), RS1001313518 (10:44928846 C>G), RS1001520432 (10:44936726 G>A), RS1001580363 (10:44917507 C>A,G,T), RS1001707892 (10:44914073 G>A)

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

7 associations (top):

Study	Trait	p-value
GCST002805_3	Body mass index	6.000000e-06
GCST003814_27	Selective IgA deficiency	9.000000e-06
GCST007094_33	Diastolic blood pressure	1.000000e-09
GCST007098_92	Diastolic blood pressure	5.000000e-08
GCST007098_93	Diastolic blood pressure	4.000000e-07
GCST009545_2	Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis	1.000000e-06
GCST010002_286	Refractive error	1.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005937	longitudinal BMI measurement
EFO:0006336	diastolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, affects methylation	2
Aflatoxin B1	decreases expression, increases methylation	2
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Arsenic	decreases methylation	1
Endosulfan	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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