TMEM171

Summary

TMEM171 (transmembrane protein 171, HGNC:27031) is a protein-coding gene on chromosome 5q13.2, encoding Transmembrane protein 171 (Q8WVE6).

Predicted to be located in membrane.

Source: NCBI Gene 134285 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_173490

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27031
Approved symbol	TMEM171
Name	transmembrane protein 171
Location	5q13.2
Locus type	gene with protein product
Status	Approved
Aliases	PRP2
Ensembl gene	ENSG00000157111
Ensembl biotype	protein_coding
Entrez	134285

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000287773, ENST00000454765, ENST00000903973, ENST00000903974, ENST00000915845, ENST00000915846

RefSeq mRNA: 2 — MANE Select: NM_173490 NM_001161342, NM_173490

CCDS: CCDS4017, CCDS54869

Canonical transcript exons

ENST00000454765 — 4 exons

Exon	Start	End
ENSE00001030400	73123306	73124013
ENSE00001030408	73128390	73128531
ENSE00001299313	73120575	73120696
ENSE00002051133	73131538	73131809

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 95.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.4473 / max 98.9855, expressed in 949 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57031	2.3646	791
57033	0.7039	411
57032	0.3788	220

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	95.55	gold quality
rectum	UBERON:0001052	91.43	gold quality
oocyte	CL:0000023	90.69	silver quality
ileal mucosa	UBERON:0000331	87.41	gold quality
epithelial cell of pancreas	CL:0000083	87.27	silver quality
colonic mucosa	UBERON:0000317	87.02	gold quality
left lobe of thyroid gland	UBERON:0001120	86.95	gold quality
thyroid gland	UBERON:0002046	86.07	gold quality
right lobe of thyroid gland	UBERON:0001119	86.00	gold quality
pancreatic ductal cell	CL:0002079	85.94	gold quality
mucosa of sigmoid colon	UBERON:0004993	85.43	gold quality
secondary oocyte	CL:0000655	84.54	gold quality
transverse colon	UBERON:0001157	82.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.45	gold quality
spleen	UBERON:0002106	82.33	gold quality
metanephros cortex	UBERON:0010533	82.21	gold quality
duodenum	UBERON:0002114	79.68	gold quality
small intestine Peyer’s patch	UBERON:0003454	79.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.46	gold quality
body of stomach	UBERON:0001161	78.28	gold quality
adult mammalian kidney	UBERON:0000082	77.96	gold quality
small intestine	UBERON:0002108	77.95	gold quality
esophagus squamous epithelium	UBERON:0006920	77.06	silver quality
jejunal mucosa	UBERON:0000399	76.58	gold quality
stomach	UBERON:0000945	75.57	gold quality
esophagus mucosa	UBERON:0002469	73.62	gold quality
kidney	UBERON:0002113	73.29	gold quality
lower esophagus mucosa	UBERON:0035834	72.86	gold quality
cortex of kidney	UBERON:0001225	72.64	gold quality
intestine	UBERON:0000160	71.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.82
E-GEOD-99795	no	11.64

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem171	ENSMUSG00000052485
rattus_norvegicus	Tmem171	ENSRNOG00000015449

Protein

Protein identifiers

Transmembrane protein 171 — Q8WVE6 (reviewed: Q8WVE6)

All UniProt accessions (1): Q8WVE6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WVE6-1	1	yes
Q8WVE6-2	2

RefSeq proteins (2): NP_001154814, NP_775761* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029173	TMEM171	Family

Pfam: PF15471

UniProt features (14 total): transmembrane region 4, sequence variant 3, region of interest 2, compositionally biased region 2, chain 1, sequence conflict 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WVE6-F1	55.69	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 57 (showing top): FOSTER_TOLERANT_MACROPHAGE_UP, RIGGI_EWING_SARCOMA_PROGENITOR_DN, SABATES_COLORECTAL_ADENOMA_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, YOSHIMURA_MAPK8_TARGETS_UP, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K27ME3, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, ZHANG_RESPONSE_TO_IKK_INHIBITOR_AND_TNF_UP, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, MARTENS_TRETINOIN_RESPONSE_UP, CHICAS_RB1_TARGETS_LOW_SERUM, CHICAS_RB1_TARGETS_CONFLUENT, MIYAGAWA_TARGETS_OF_EWSR1_ETS_FUSIONS_DN, PEDRIOLI_MIR31_TARGETS_DN

GO Biological Process (0):

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

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

626 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM171	B3GNT4	Q9C0J1	620
TMEM171	UBE2Q2	Q8WVN8	609
TMEM171	TRIM46	Q7Z4K8	575
TMEM171	TMEM221	A6NGB7	572
TMEM171	A1CF	Q9NQ94	567
TMEM171	SFMBT1	Q9UHJ3	538
TMEM171	ZNF366	Q8N895	537
TMEM171	GPR137C	Q8N3F9	530
TMEM171	MANSC1	Q9H8J5	507
TMEM171	OR13C5	Q8NGS8	505
TMEM171	GPR141	Q7Z602	504
TMEM171	RETREG3	Q86VR2	502
TMEM171	FCHO2	Q0JRZ9	482
TMEM171	BAZ1B	Q9UIG0	480
TMEM171	TMEM174	Q8WUU8	465

IntAct

8 interactions, top by confidence:

A	B	Type	Score
TMEM171	MIER1	psi-mi:“MI:0915”(physical association)	0.560
MIER1	TMEM171	psi-mi:“MI:0915”(physical association)	0.560
TMEM171	THAP12	psi-mi:“MI:0914”(association)	0.530
TMEM171	B3GAT3	psi-mi:“MI:0914”(association)	0.530
TMEM171	STX6	psi-mi:“MI:0914”(association)	0.350

BioGRID (151): TMEM171 (Two-hybrid), CHAMP1 (Affinity Capture-MS), NEDD4 (Affinity Capture-MS), ITCH (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), INTS5 (Affinity Capture-MS), GPRC5B (Affinity Capture-MS), GPRC5C (Affinity Capture-MS), VPS45 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), NAPA (Affinity Capture-MS), STX4 (Affinity Capture-MS), CKAP2 (Affinity Capture-MS), HIP1R (Affinity Capture-MS), CSE1L (Affinity Capture-MS)

ESM2 similar proteins: A2AR95, A4GWX9, A4IHY6, B9F4Q9, D2KUZ7, D3Z1Q2, O15165, O35181, P0C1G7, P0C6T3, P56975, Q0VA20, Q0VBF2, Q0VFM5, Q3B7T3, Q3UH99, Q3V0I2, Q4KL18, Q4KMG9, Q58DS4, Q5FWP4, Q5R8E0, Q5XG16, Q68FU0, Q6A098, Q6K0P5, Q6PAQ9, Q6UXU6, Q6ZSJ9, Q86YD5, Q8AVJ1, Q8BGE4, Q8BGW2, Q8BWJ4, Q8TB68, Q8WUU8, Q8WVE6, Q90VY2, Q92537, Q93YV5

Diamond homologs: Q4KL18, Q58DS4, Q6K0P5, Q8WVE6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

725 predictions. Top by Δscore:

Variant	Effect	Δscore
5:73120694:CAGG:C	donor_loss	1.0000
5:73120696:GGTA:G	donor_loss	1.0000
5:73120697:GTAA:G	donor_loss	1.0000
5:73120698:T:A	donor_loss	1.0000
5:73131298:A:AG	acceptor_gain	1.0000
5:73120697:G:GG	donor_gain	0.9900
5:73123300:TTGCA:T	acceptor_loss	0.9900
5:73123302:GCAGA:G	acceptor_loss	0.9900
5:73123303:CAG:C	acceptor_gain	0.9900
5:73123304:A:AC	acceptor_loss	0.9900
5:73123304:A:AG	acceptor_gain	0.9900
5:73123304:AGA:A	acceptor_gain	0.9900
5:73123305:G:C	acceptor_gain	0.9900
5:73123305:G:GG	acceptor_gain	0.9900
5:73123305:GA:G	acceptor_gain	0.9900
5:73123305:GAGC:G	acceptor_gain	0.9900
5:73123305:GAGCT:G	acceptor_gain	0.9900
5:73131536:A:AG	acceptor_gain	0.9900
5:73131537:G:GG	acceptor_gain	0.9900
5:73131537:GCA:G	acceptor_gain	0.9900
5:73123297:T:TA	acceptor_gain	0.9800
5:73123479:G:GT	donor_gain	0.9800
5:73131536:AGCAG:A	acceptor_gain	0.9800
5:73131537:GCAGG:G	acceptor_gain	0.9800
5:73123510:C:T	donor_gain	0.9700
5:73131298:AAT:A	acceptor_gain	0.9700
5:73131532:CTTTA:C	acceptor_loss	0.9700
5:73131533:TTTA:T	acceptor_loss	0.9700
5:73131534:TTAGC:T	acceptor_loss	0.9700
5:73131535:TA:T	acceptor_loss	0.9700

AlphaMissense

2097 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:73123752:A:C	S127R	0.998
5:73123754:C:A	S127R	0.998
5:73123754:C:G	S127R	0.998
5:73123737:A:C	S122R	0.997
5:73123739:C:A	S122R	0.997
5:73123739:C:G	S122R	0.997
5:73123720:G:A	G116E	0.991
5:73123893:G:A	G174R	0.991
5:73123893:G:C	G174R	0.991
5:73123899:T:C	C176R	0.991
5:73123872:G:A	G167R	0.990
5:73123872:G:C	G167R	0.990
5:73123894:G:A	G174E	0.987
5:73123719:G:A	G116R	0.985
5:73123719:G:C	G116R	0.985
5:73123741:G:A	G123D	0.983
5:73123479:G:A	G36R	0.982
5:73123479:G:C	G36R	0.982
5:73123740:G:C	G123R	0.982
5:73128408:T:C	F220S	0.982
5:73123581:G:A	G70R	0.981
5:73123581:G:C	G70R	0.981
5:73123582:G:A	G70E	0.981
5:73123915:C:A	A181D	0.977
5:73128407:T:C	F220L	0.977
5:73128409:T:A	F220L	0.977
5:73128409:T:G	F220L	0.977
5:73123569:T:C	C66R	0.976
5:73123459:G:A	G29D	0.975
5:73123480:G:A	G36E	0.974

dbSNP variants (sampled 300 via entrez): RS1000090262 (5:73128226 T>C), RS1000787383 (5:73129500 T>C), RS1001441331 (5:73121649 T>A,C), RS1002555479 (5:73125881 G>A), RS1002648928 (5:73125528 G>A,T), RS1003511857 (5:73129890 G>A), RS1003542408 (5:73120668 G>C), RS1003557610 (5:73127136 T>C), RS1004018438 (5:73130250 T>C), RS1004232099 (5:73124338 G>A), RS1004429557 (5:73130095 T>TG), RS1004968942 (5:73129763 C>T), RS1005529024 (5:73127153 T>C), RS1005833653 (5:73119754 T>A), RS1005860759 (5:73125483 C>T)

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

22 associations (top):

Study	Trait	p-value
GCST001610_12	Renal function-related traits (BUN)	2.000000e-06
GCST001791_46	Urate levels	4.000000e-11
GCST003476_8	Eyebrow thickness	3.000000e-07
GCST003477_7	Monobrow thickness	4.000000e-07
GCST005986_7	Blood urea nitrogen levels	1.000000e-11
GCST005999_12	Aspartate aminotransferase levels	8.000000e-10
GCST007445_42	Factor VIII levels	2.000000e-10
GCST007445_8	Factor VIII levels	5.000000e-10
GCST007446_2	vWF levels	6.000000e-13
GCST007446_41	vWF levels	1.000000e-12
GCST007446_61	vWF levels	3.000000e-12
GCST007446_81	vWF levels	1.000000e-12
GCST007878_2	Urea levels	6.000000e-11
GCST007916_20	Hyperuricemia	2.000000e-16
GCST007918_9	Serum uric acid levels	2.000000e-16
GCST007919_16	Creatinine levels	1.000000e-10
GCST008971_70	Urate levels	2.000000e-22
GCST008972_147	Urate levels	1.000000e-30
GCST010637_9	Urate levels	5.000000e-07
GCST011351_8	Aspartate aminotransferase levels	3.000000e-11
GCST90000025_42	Appendicular lean mass	8.000000e-13
GCST90002388_316	Lymphocyte count	8.000000e-11

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004736	aspartate aminotransferase measurement
EFO:0004630	factor VIII measurement
EFO:0009104	hyperuricemia
EFO:0004761	uric acid measurement
EFO:0004980	appendicular lean mass
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
chromium hexavalent ion	affects expression, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
bisphenol F	decreases expression, affects cotreatment	1
terbufos	increases methylation	1
butyraldehyde	increases expression	1
zinc chromate	increases abundance, increases expression	1
nickel sulfate	increases expression	1
cupric oxide	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
NSC668394	increases expression	1
Rosiglitazone	increases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	increases expression	1
Air Pollutants	increases expression	1
Cadmium	increases abundance, decreases expression	1
Chenodeoxycholic Acid	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Deoxycholic Acid	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D8CM	Ubigene A-549 TMEM171 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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