TMEM212

Summary

TMEM212 (transmembrane protein 212, HGNC:34295) is a protein-coding gene on chromosome 3q26.31, encoding Transmembrane protein 212 (A6NML5).

Predicted to be located in membrane.

Source: NCBI Gene 389177 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_001164436

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34295
Approved symbol	TMEM212
Name	transmembrane protein 212
Location	3q26.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23172
Ensembl gene	ENSG00000186329
Ensembl biotype	protein_coding
Entrez	389177

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000334567, ENST00000420375, ENST00000450693, ENST00000469981, ENST00000619900, ENST00000905715

RefSeq mRNA: 1 — MANE Select: NM_001164436 NM_001164436

CCDS: CCDS46958

Canonical transcript exons

ENST00000334567 — 5 exons

Exon	Start	End
ENSE00001338950	171851982	171852041
ENSE00001338953	171853527	171853850
ENSE00001338957	171843349	171843542
ENSE00001530051	171858061	171859318
ENSE00001530052	171856663	171856707

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.09.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0454 / max 25.6867, expressed in 12 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39801	0.0454	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.09	gold quality
bronchial epithelial cell	CL:0002328	93.05	gold quality
epithelium of bronchus	UBERON:0002031	91.27	gold quality
bronchus	UBERON:0002185	90.69	gold quality
right uterine tube	UBERON:0001302	89.94	gold quality
tendon of biceps brachii	UBERON:0008188	87.95	silver quality
mucosa of paranasal sinus	UBERON:0005030	85.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.67	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.13	gold quality
cerebellar vermis	UBERON:0004720	82.20	silver quality
pancreatic ductal cell	CL:0002079	79.93	silver quality
sperm	CL:0000019	79.53	silver quality
nasal cavity epithelium	UBERON:0005384	78.81	gold quality
male germ cell	CL:0000015	78.12	silver quality
medial globus pallidus	UBERON:0002477	77.35	silver quality
globus pallidus	UBERON:0001875	76.91	silver quality
gluteal muscle	UBERON:0002000	76.90	gold quality
nasal cavity mucosa	UBERON:0001826	76.51	gold quality
vena cava	UBERON:0004087	76.22	silver quality
pylorus	UBERON:0001166	76.18	silver quality
cardia of stomach	UBERON:0001162	76.13	silver quality
nipple	UBERON:0002030	76.03	silver quality
endothelial cell	CL:0000115	75.76	silver quality
tongue squamous epithelium	UBERON:0006919	75.17	silver quality
inferior vagus X ganglion	UBERON:0005363	74.94	silver quality
superior surface of tongue	UBERON:0007371	74.94	silver quality
subthalamic nucleus	UBERON:0001906	74.86	silver quality
ventral tegmental area	UBERON:0002691	74.85	silver quality
pericardium	UBERON:0002407	74.83	silver quality
fallopian tube	UBERON:0003889	74.59	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	1041.48
E-CURD-89	yes	250.82
E-MTAB-5061	yes	14.68
E-ANND-3	yes	7.90
E-CURD-53	no	553.34
E-MTAB-10290	no	164.64
E-MTAB-7249	no	96.91
E-ENAD-20	no	63.12
E-GEOD-99795	no	14.09
E-GEOD-81547	no	4.80
E-CURD-112	no	2.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting TMEM212, 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-3134	100.00	66.43	777
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-7151-5P	99.37	67.82	613
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-4312	99.34	67.30	511
HSA-MIR-4796-5P	99.34	70.06	810
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270

Literature-anchored findings (GeneRIF, showing 1)

• The specialized function of this brain region suggests that TMEM212 could contribute to the innate architecture of face processing. (PMID:22828495)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem212	ENSMUSG00000043164
rattus_norvegicus	Tmem212	ENSRNOG00000012608

Paralogs (16): MS4A12 (ENSG00000071203), MS4A6A (ENSG00000110077), MS4A4A (ENSG00000110079), MS4A3 (ENSG00000149516), MS4A2 (ENSG00000149534), MS4A1 (ENSG00000156738), MS4A6E (ENSG00000166926), MS4A7 (ENSG00000166927), MS4A14 (ENSG00000166928), MS4A5 (ENSG00000166930), MS4A8 (ENSG00000166959), MS4A15 (ENSG00000166961), MS4A10 (ENSG00000172689), MS4A13 (ENSG00000204979), MS4A18 (ENSG00000214782), MS4A4E (ENSG00000214787)

Protein

Protein identifiers

Transmembrane protein 212 — A6NML5 (reviewed: A6NML5)

All UniProt accessions (3): A6NML5, H7C098, H7C390

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001157908* (*=MANE)

Domains & families (InterPro)

UniProt features (6 total): transmembrane region 5, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NML5-F1	74.31	0.31

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, chr3q26, HARRIS_BRAIN_CANCER_PROGENITORS, JAK2_DN.V1_DN, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, FOXJ2_TARGET_GENES, ZNF274_TARGET_GENES, MIR8068, MIR578, MIR4782_5P, MIR5706, MIR6740_3P, MIR4424, MIR148A_5P, MIR6513_5P

GO Biological Process (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

636 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM212	LINC03043	A4D0Y5	505
TMEM212	TMEM221	A6NGB7	470
TMEM212	TCF12	Q99081	450
TMEM212	CFAP20DC	Q6ZVT6	447
TMEM212	TSPAN19	P0C672	441
TMEM212	PLEKHN1	Q494U1	435
TMEM212	SLC24A3	Q9HC58	428
TMEM212	ZNF396	Q96N95	420
TMEM212	FAM216B	Q8N7L0	414
TMEM212	SPATA18	Q8TC71	407
TMEM212	SNTN	A6NMZ2	407
TMEM212	DYNLT4	Q5JR98	403
TMEM212	DYNLRB2	Q8TF09	403
TMEM212	PTPDC1	A2A3K4	399
TMEM212	MFAP3	P55082	397

IntAct

0 interactions, top by confidence:

BioGRID (2): TMEM212 (Affinity Capture-RNA), TMEM212 (Protein-RNA)

ESM2 similar proteins: A4IIU3, A6NML5, D3YWQ9, O75204, P0DP42, P11836, P20490, P56749, Q01362, Q0IIL2, Q2KJ11, Q2YDM3, Q32KQ5, Q3T110, Q3YBM2, Q497B3, Q4G068, Q504G0, Q5EB63, Q5FWC3, Q5HYL7, Q5M962, Q5R8D6, Q5R9K1, Q5RCD5, Q5RFC1, Q6GV28, Q7T392, Q7TQI0, Q7YQI4, Q8BGP5, Q8BHH8, Q8C6V3, Q8K177, Q8NCR9, Q8VHW1, Q8WXS4, Q920C4, Q925D4, Q940P5

Diamond homologs: A6NML5, Q8C6V3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

459 predictions. Top by Δscore:

Variant	Effect	Δscore
3:171843439:GT:G	donor_gain	0.9900
3:171853851:G:GG	donor_gain	0.9800
3:171843499:G:GT	donor_gain	0.9400
3:171852108:G:GT	donor_gain	0.9400
3:171843450:G:GT	donor_gain	0.9300
3:171851271:G:GT	donor_gain	0.9300
3:171845754:TCAA:T	donor_gain	0.9200
3:171843535:GAGCT:G	donor_gain	0.9100
3:171853521:TTTCA:T	acceptor_loss	0.9100
3:171853522:TTCA:T	acceptor_loss	0.9100
3:171853523:TCAGG:T	acceptor_loss	0.9100
3:171853524:CAGGG:C	acceptor_loss	0.9100
3:171853526:G:GA	acceptor_loss	0.9100
3:171853850:CGTAA:C	donor_loss	0.9100
3:171853851:GTA:G	donor_loss	0.9100
3:171853852:TAAG:T	donor_loss	0.9100
3:171853853:A:AG	donor_loss	0.9100
3:171853854:AGTTT:A	donor_loss	0.9100
3:171843543:G:GG	donor_gain	0.9000
3:171852046:A:G	donor_gain	0.9000
3:171853525:AG:A	acceptor_gain	0.9000
3:171853526:GG:G	acceptor_gain	0.9000
3:171843540:TTG:T	donor_loss	0.8900
3:171843541:TGG:T	donor_loss	0.8900
3:171843542:GGTA:G	donor_loss	0.8900
3:171843543:G:T	donor_loss	0.8900
3:171843544:T:A	donor_loss	0.8900
3:171853855:G:C	donor_loss	0.8900
3:171853525:AGG:A	acceptor_gain	0.8700
3:171853526:GGG:G	acceptor_gain	0.8700

AlphaMissense

1237 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:171853773:A:C	S156R	0.922
3:171853775:C:A	S156R	0.922
3:171853775:C:G	S156R	0.922
3:171843438:A:C	S19R	0.914
3:171843440:T:A	S19R	0.914
3:171843440:T:G	S19R	0.914
3:171843492:T:C	F37L	0.914
3:171843494:C:A	F37L	0.914
3:171843494:C:G	F37L	0.914
3:171843462:T:C	F27L	0.911
3:171843464:C:A	F27L	0.911
3:171843464:C:G	F27L	0.911
3:171853557:A:C	S84R	0.911
3:171853559:C:A	S84R	0.911
3:171853559:C:G	S84R	0.911
3:171843465:T:C	F28L	0.859
3:171843467:T:A	F28L	0.859
3:171843467:T:G	F28L	0.859
3:171843504:A:C	S41R	0.856
3:171843506:T:A	S41R	0.856
3:171843506:T:G	S41R	0.856
3:171843528:T:A	W49R	0.851
3:171843528:T:C	W49R	0.851
3:171843485:G:C	K34N	0.847
3:171843485:G:T	K34N	0.847
3:171843429:G:T	G16W	0.834
3:171843429:G:A	G16R	0.825
3:171843429:G:C	G16R	0.825
3:171853569:T:C	C88R	0.811
3:171853581:T:C	F92L	0.808

dbSNP variants (sampled 300 via entrez): RS1000143828 (3:171847927 T>C), RS1000253748 (3:171844978 G>A), RS1000306591 (3:171859196 T>C), RS1000533364 (3:171852929 G>A), RS1000790234 (3:171847441 T>C,G), RS1000810723 (3:171855445 T>A), RS1000946279 (3:171855069 T>C), RS1001049716 (3:171853173 C>A), RS1001139185 (3:171851173 A>G), RS1001226342 (3:171845066 C>T), RS1001275101 (3:171850854 C>T), RS1001367436 (3:171849950 C>G), RS1001437435 (3:171843511 G>A,C,T), RS1001483704 (3:171857006 T>C), RS1002158597 (3:171845422 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

13 associations (top):

Study	Trait	p-value
GCST000821_15	Bipolar disorder and schizophrenia	6.000000e-07
GCST001125_1	Body mass index	2.000000e-06
GCST001520_6	Response to angiotensin II receptor blocker therapy	4.000000e-07
GCST003059_6	Parkinson’s disease	1.000000e-06
GCST006138_39	Resting-state electroencephalogram vigilance	2.000000e-06
GCST011390_2	Corneal resistance factor	5.000000e-66
GCST011946_25	White matter hyperintensity volume	1.000000e-05
GCST011947_9	White matter hyperintensity volume	4.000000e-06
GCST011949_42	White matter hyperintensity volume (adjusted for hypertension)	4.000000e-06
GCST011950_37	White matter hyperintensity volume (adjusted for hypertension)	2.000000e-06
GCST011952_26	White matter hyperintensity volume x hypertension interaction (2df)	6.000000e-06
GCST011953_19	White matter hyperintensity volume x hypertension interaction (2df)	3.000000e-06
GCST90013442_5	Keratoconus	1.000000e-26

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004357	electroencephalogram measurement
EFO:0010067	corneal resistance factor
EFO:0005665	white matter hyperintensity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, increases abundance	2
fipronil	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
Decitabine	increases expression	1
DEET	affects cotreatment, decreases expression	1
Formaldehyde	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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