TMEM191C

Summary

TMEM191C (transmembrane protein 191C, HGNC:33601) is a protein-coding gene on chromosome 22q11.21, encoding Transmembrane protein 191C (A6NGB0). It is a selective cancer dependency (DepMap: 20.0% of cell lines).

Predicted to be located in membrane.

Source: NCBI Gene 645426 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• Cancer dependency (DepMap): dependent in 20.0% of screened cell lines
• MANE Select transcript: NM_001388354

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33601
Approved symbol	TMEM191C
Name	transmembrane protein 191C
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206140
Ensembl biotype	protein_coding
Entrez	645426

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 retained_intron, 4 protein_coding, 2 nonsense_mediated_decay

ENST00000413877, ENST00000415764, ENST00000417708, ENST00000425458, ENST00000427147, ENST00000432134, ENST00000446867, ENST00000449424, ENST00000453397, ENST00000456153, ENST00000456303, ENST00000536718, ENST00000621561, ENST00000682920

RefSeq mRNA: 2 — MANE Select: NM_001388354 NM_001207052, NM_001388354

CCDS: CCDS82695, CCDS93125

Canonical transcript exons

ENST00000536718 — 10 exons

Exon	Start	End
ENSE00001637438	21467894	21468017
ENSE00001637514	21469130	21469194
ENSE00001797456	21468152	21468202
ENSE00003746008	21467387	21467614
ENSE00003793468	21468779	21468835
ENSE00003793599	21469617	21469935
ENSE00003795365	21468354	21468431
ENSE00003795619	21469274	21469346
ENSE00003795814	21468944	21469003
ENSE00003798471	21469494	21469534

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 95.38.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0616 / max 3.3183, expressed in 23 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191185	0.0616	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	95.38	gold quality
left testis	UBERON:0004533	95.23	gold quality
testis	UBERON:0000473	93.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.47	gold quality
primary visual cortex	UBERON:0002436	80.40	gold quality
right frontal lobe	UBERON:0002810	80.08	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.35	gold quality
anterior cingulate cortex	UBERON:0009835	78.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.07	gold quality
hypothalamus	UBERON:0001898	77.99	gold quality
superior frontal gyrus	UBERON:0002661	77.65	gold quality
cerebral cortex	UBERON:0000956	76.88	gold quality
frontal cortex	UBERON:0001870	76.37	gold quality
nucleus accumbens	UBERON:0001882	76.17	gold quality
Ammon’s horn	UBERON:0001954	76.09	gold quality
temporal lobe	UBERON:0001871	75.57	gold quality
amygdala	UBERON:0001876	75.50	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.42	gold quality
cerebellar hemisphere	UBERON:0002245	75.30	gold quality
brain	UBERON:0000955	75.27	gold quality
cerebellar cortex	UBERON:0002129	75.17	gold quality
cerebellum	UBERON:0002037	75.05	gold quality
substantia nigra	UBERON:0002038	74.36	gold quality
prefrontal cortex	UBERON:0000451	73.77	gold quality
cortical plate	UBERON:0005343	73.63	gold quality
caudate nucleus	UBERON:0001873	73.36	gold quality
putamen	UBERON:0001874	73.29	gold quality
granulocyte	CL:0000094	73.21	gold quality
mucosa of transverse colon	UBERON:0004991	73.15	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting TMEM191C, 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-767-5P	99.95	70.85	993
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-4780	98.57	64.75	611
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-4639-3P	97.54	67.12	787
HSA-MIR-6866-3P	97.38	66.94	748

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.0% of screened cell lines.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem191	ENSMUSG00000055692
rattus_norvegicus	Tmem191c	ENSRNOG00000001864

Paralogs (1): TMEM191B (ENSG00000278558)

Protein

Protein identifiers

Transmembrane protein 191C — A6NGB0 (reviewed: A6NGB0)

All UniProt accessions (5): A0A1B0GTE4, A0A1B0GTY7, A0A1B0GV61, A0A804HIB0, A6NGB0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM191 family.

Isoforms (2)

UniProt ID	Names	Canonical?
A6NGB0-2	2	yes
A6NGB0-1	1

RefSeq proteins (2): NP_001193981, NP_001375283* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028186	TMEM191B/C	Family

Pfam: PF15194

UniProt features (6 total): region of interest 2, chain 1, transmembrane region 1, coiled-coil region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGB0-F1	80.00	0.47

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 57 (showing top): GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MARTINEZ_RB1_TARGETS_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, MARTINEZ_RB1_AND_TP53_TARGETS_UP, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, CEBPZ_TARGET_GENES, GSE10240_CTRL_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, KAECH_NAIVE_VS_MEMORY_CD8_TCELL_UP, ZNF282_TARGET_GENES, MIR3664_3P, GSE10240_IL17_VS_IL17_AND_IL22_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_DN, MIR4780

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

31 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM191C	LKAAEAR1	Q8TD35	880
TMEM191C	CRYBG2	Q8N1P7	700
TMEM191C	OGT	O15294	295
TMEM191C	HLA-A	P01891	264
TMEM191C	GGT1	P19440	210
TMEM191C	GGTLC1	Q9BX51	210
TMEM191C	GGT2P	P36268	210
TMEM191C	GGTLC3	B5MD39	210
TMEM191C	TMEM221	A6NGB7	176
TMEM191C	GPR137C	Q8N3F9	166
TMEM191C	PRODH	O43272	166
TMEM191C	TMEM171	Q8WVE6	164
TMEM191C	LHFPL7	Q6ICI0	162
TMEM191C	TMEM132E	Q6IEE7	157
TMEM191C	M0R296	M0R296	155

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: A6NGB0, P0C7N4, Q9JJB1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1913 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:21468357:T:C	F159L	0.986
22:21468359:C:A	F159L	0.986
22:21468359:C:G	F159L	0.986
22:21467498:G:C	K60N	0.982
22:21467498:G:T	K60N	0.982
22:21468977:T:C	F214L	0.973
22:21468979:C:A	F214L	0.973
22:21468979:C:G	F214L	0.973
22:21467491:T:C	L58S	0.972
22:21467499:G:C	D61H	0.971
22:21467521:G:C	R68P	0.970
22:21467533:T:C	L72P	0.968
22:21468197:A:C	S156R	0.967
22:21468199:T:A	S156R	0.967
22:21468199:T:G	S156R	0.967
22:21467500:A:T	D61V	0.964
22:21467506:G:C	R63P	0.963
22:21467511:G:C	G65R	0.963
22:21467515:G:C	R66P	0.960
22:21467500:A:C	D61A	0.957
22:21467512:G:A	G65D	0.956
22:21467542:T:C	L75P	0.956
22:21468192:T:C	L154P	0.956
22:21467497:A:T	K60M	0.950
22:21469322:G:A	M258I	0.950
22:21469322:G:C	M258I	0.950
22:21469322:G:T	M258I	0.950
22:21467497:A:C	K60T	0.949
22:21467504:C:A	N62K	0.948
22:21467504:C:G	N62K	0.948

dbSNP variants (sampled 300 via entrez): RS1000987912 (22:21468339 A>G), RS1001199963 (22:21470380 TTTTTC>T), RS1001274387 (22:21468890 G>A), RS1001713302 (22:21469847 G>A), RS1005162415 (22:21467603 G>A,C), RS1005459327 (22:21468271 T>C), RS1007895427 (22:21465859 T>C), RS1007947793 (22:21467019 A>C,G), RS1009628385 (22:21468925 C>G), RS1012132156 (22:21465405 C>A), RS1012182998 (22:21465701 A>C), RS1013806516 (22:21468308 C>G,T), RS1013858799 (22:21468815 CAGG>C), RS1014143098 (22:21469801 A>G), RS1014206805 (22:21469978 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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
fluorene-9-bisphenol	decreases expression	1
triphenyl phosphate	affects expression	1
hydroxyhydroquinone	decreases expression	1
licochalcone B	increases expression	1

Clinical trials (associated diseases)

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