TMEM179B

Summary

TMEM179B (transmembrane protein 179B, HGNC:33744) is a protein-coding gene on chromosome 11q12.3, encoding Transmembrane protein 179B (Q7Z7N9).

Located in nuclear speck and nucleolus.

Source: NCBI Gene 374395 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 44 total — 1 pathogenic
• MANE Select transcript: NM_199337

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33744
Approved symbol	TMEM179B
Name	transmembrane protein 179B
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185475
Ensembl biotype	protein_coding
Entrez	374395

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 retained_intron

ENST00000333449, ENST00000526546, ENST00000532345, ENST00000532586, ENST00000533861, ENST00000892242, ENST00000892243, ENST00000892244, ENST00000892245, ENST00000892246, ENST00000948861, ENST00000948862, ENST00000948863

RefSeq mRNA: 4 — MANE Select: NM_199337 NM_001363599, NM_001363600, NM_001363601, NM_199337

CCDS: CCDS8036, CCDS91494

Canonical transcript exons

ENST00000333449 — 5 exons

Exon	Start	End
ENSE00001311140	62789601	62789679
ENSE00001326303	62789023	62789210
ENSE00002191065	62787402	62787527
ENSE00003128437	62789886	62790400
ENSE00003635040	62789292	62789426

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 124.1737 / max 402.1512, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114748	123.0565	1825
114749	1.1172	668

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.72	gold quality
right adrenal gland	UBERON:0001233	96.11	gold quality
right adrenal gland cortex	UBERON:0035827	96.06	gold quality
granulocyte	CL:0000094	95.73	gold quality
left adrenal gland	UBERON:0001234	95.65	gold quality
right lobe of thyroid gland	UBERON:0001119	95.60	gold quality
stromal cell of endometrium	CL:0002255	95.54	gold quality
left lobe of thyroid gland	UBERON:0001120	95.52	gold quality
left adrenal gland cortex	UBERON:0035825	95.50	gold quality
saliva-secreting gland	UBERON:0001044	95.35	gold quality
minor salivary gland	UBERON:0001830	95.35	gold quality
metanephros cortex	UBERON:0010533	95.34	gold quality
thyroid gland	UBERON:0002046	95.22	gold quality
body of pancreas	UBERON:0001150	95.21	gold quality
right lung	UBERON:0002167	95.20	gold quality
left uterine tube	UBERON:0001303	95.12	gold quality
body of stomach	UBERON:0001161	95.07	gold quality
endocervix	UBERON:0000458	94.94	gold quality
cortex of kidney	UBERON:0001225	94.94	gold quality
skin of leg	UBERON:0001511	94.93	gold quality
right uterine tube	UBERON:0001302	94.89	gold quality
skin of abdomen	UBERON:0001416	94.86	gold quality
fallopian tube	UBERON:0003889	94.84	gold quality
zone of skin	UBERON:0000014	94.83	gold quality
upper lobe of left lung	UBERON:0008952	94.76	gold quality
ectocervix	UBERON:0012249	94.70	gold quality
transverse colon	UBERON:0001157	94.63	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.54	gold quality
adrenal gland	UBERON:0002369	94.43	gold quality
right lobe of liver	UBERON:0001114	94.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7052	no	115.01
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting TMEM179B, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-3613-5P	98.40	68.91	604
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-1263	98.13	69.18	459
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-3680-5P	98.06	66.20	394
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-635	96.00	65.54	687
HSA-MIR-6774-5P	95.94	65.18	722

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem179ba	ENSDARG00000056233
danio_rerio	tmem179bb	ENSDARG00000069495
mus_musculus	Tmem179b	ENSMUSG00000118346
rattus_norvegicus	Tmem179b	ENSRNOG00000019341

Protein

Protein identifiers

Transmembrane protein 179B — Q7Z7N9 (reviewed: Q7Z7N9)

All UniProt accessions (3): Q7Z7N9, G3V185, H0YEV1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM179 family.

RefSeq proteins (4): NP_001350528, NP_001350529, NP_001350530, NP_955369* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029776	TMEM179B	Family
IPR059010	TMEM179-179B	Family

Pfam: PF26158

UniProt features (8 total): transmembrane region 4, modified residue 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7N9-F1	85.56	0.61

Functional residue map

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

Post-translational modifications (2): 206, 214

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 115 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, DOUGLAS_BMI1_TARGETS_DN, GOCC_SECRETORY_VESICLE, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_SECRETORY_GRANULE_MEMBRANE, CCGNMNNTNACG_UNKNOWN, URS_ADIPOCYTE_DIFFERENTIATION_DN, HATADA_METHYLATED_IN_LUNG_CANCER_UP, MARTENS_TRETINOIN_RESPONSE_DN, GOCC_AZUROPHIL_GRANULE_MEMBRANE

GO Biological Process (0):

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

GO Cellular Component (7): nucleolus (GO:0005730), plasma membrane (GO:0005886), nuclear speck (GO:0016607), secretory granule membrane (GO:0030667), azurophil granule membrane (GO:0035577), ficolin-1-rich granule membrane (GO:0101003), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
secretory granule membrane	2
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
nuclear ribonucleoprotein granule	1
secretory granule	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
lysosomal membrane	1
azurophil granule	1
tertiary granule	1
ficolin-1-rich granule	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1572 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM179B	LNPK	Q9C0E8	526
TMEM179B	ITFG1	Q8TB96	524
TMEM179B	FAM209A	Q5JX71	507
TMEM179B	ASCC2	Q9H1I8	460
TMEM179B	TMEM179	Q6ZVK1	448
TMEM179B	TMEM236	Q5W0B7	435
TMEM179B	GPR152	Q8TDT2	400
TMEM179B	RFX7	Q2KHR2	398
TMEM179B	TMTC3	Q6ZXV5	394
TMEM179B	TMEM25	Q86YD3	390
TMEM179B	EPRS1	P07814	353
TMEM179B	YARS1	P54577	353
TMEM179B	VARS1	P26640	351
TMEM179B	WARS2	Q9UGM6	349
TMEM179B	MARS1	P56192	349
TMEM179B	QARS1	P47897	349
TMEM179B	YARS2	Q9Y2Z4	349

IntAct

199 interactions, top by confidence:

A	B	Type	Score
ENTREP1	WWP2	psi-mi:“MI:0914”(association)	0.850
GPHB5	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
ITM2A	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
APOL2	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
BCL2L2	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
LRP10	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
TTMP	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
C1QL4	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	GPHB5	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	BCL2L2	psi-mi:“MI:0915”(physical association)	0.560
MFSD6	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
C2CD2L	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-2	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	FATE1	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
TMEM236	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
IGFBP5	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	GKN1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (107): TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), TMEM179B (Two-hybrid)

ESM2 similar proteins: A2VE58, A3KQ86, A6H7B0, A6NC51, A6NDP7, A6NFC5, B1AQL3, B2RZ87, E9Q9H8, O14894, O43761, P0C5X8, P30408, P47987, Q08AU7, Q08DL4, Q13021, Q1HG44, Q2KIG8, Q2KJ98, Q3UUA0, Q49LS7, Q4VV71, Q58CW5, Q5RE43, Q5RFC1, Q5XGR0, Q63175, Q63ZU3, Q64302, Q6DFR5, Q7TQJ1, Q7Z7N9, Q8BHJ6, Q8K177, Q8R191, Q91X49, Q923Z0, Q96DZ7, Q9BSK0

Diamond homologs: Q7T392, Q7Z7N9, Q9CY24

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	42
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	Pathogenic

SpliceAI

840 predictions. Top by Δscore:

Variant	Effect	Δscore
11:62789680:G:GG	donor_gain	1.0000
11:62789692:GA:G	donor_gain	1.0000
11:62789697:G:GT	donor_gain	1.0000
11:62789700:G:GT	donor_gain	1.0000
11:62789701:A:T	donor_gain	1.0000
11:62789290:A:AG	acceptor_gain	0.9900
11:62789291:G:GG	acceptor_gain	0.9900
11:62789291:GA:G	acceptor_gain	0.9900
11:62789291:GAGGT:G	acceptor_gain	0.9900
11:62789423:T:G	donor_gain	0.9900
11:62789677:G:GT	donor_gain	0.9900
11:62789677:GAA:G	donor_gain	0.9900
11:62789693:A:G	donor_gain	0.9900
11:62789693:A:T	donor_gain	0.9900
11:62789290:AGAG:A	acceptor_gain	0.9800
11:62789291:GAGG:G	acceptor_gain	0.9800
11:62789423:T:TG	donor_gain	0.9800
11:62789600:GCT:G	acceptor_gain	0.9800
11:62789724:GCTGT:G	donor_gain	0.9800
11:62789884:A:AG	acceptor_gain	0.9800
11:62789885:G:GG	acceptor_gain	0.9800
11:62789885:GACCT:G	acceptor_gain	0.9800
11:62787523:CCCAG:C	donor_loss	0.9700
11:62787524:CCAGG:C	donor_loss	0.9700
11:62787525:CAGGT:C	donor_loss	0.9700
11:62787526:AGGT:A	donor_loss	0.9700
11:62787527:GG:G	donor_loss	0.9700
11:62787528:G:GC	donor_loss	0.9700
11:62787529:T:G	donor_loss	0.9700
11:62789124:AGCTG:A	acceptor_gain	0.9700

AlphaMissense

1380 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62789913:T:A	W176R	0.983
11:62789913:T:C	W176R	0.983
11:62789653:T:C	F158L	0.970
11:62789655:T:A	F158L	0.970
11:62789655:T:G	F158L	0.970
11:62789041:T:C	C39R	0.966
11:62789626:T:A	W149R	0.966
11:62789626:T:C	W149R	0.966
11:62789628:G:C	W149C	0.961
11:62789628:G:T	W149C	0.961
11:62789378:G:A	G124D	0.959
11:62789895:T:A	W170R	0.953
11:62789895:T:C	W170R	0.953
11:62789029:T:C	F35L	0.951
11:62789031:C:A	F35L	0.951
11:62789031:C:G	F35L	0.951
11:62789378:G:T	G124V	0.946
11:62789041:T:A	C39S	0.944
11:62789042:G:C	C39S	0.944
11:62789113:T:C	C63R	0.942
11:62789392:T:A	C129S	0.940
11:62789393:G:C	C129S	0.940
11:62789916:T:C	C177R	0.940
11:62789654:T:C	F158S	0.936
11:62789155:T:C	C77R	0.935
11:62789115:C:G	C63W	0.934
11:62787483:T:C	F18L	0.933
11:62787485:C:A	F18L	0.933
11:62787485:C:G	F18L	0.933
11:62787492:G:A	G21R	0.932

dbSNP variants (sampled 300 via entrez): RS1000067794 (11:62786746 T>C,G), RS1000081793 (11:62786984 T>C), RS1001085217 (11:62787648 G>A,C,T), RS1001272030 (11:62787085 C>T), RS1002308087 (11:62787940 T>A), RS1002413832 (11:62788815 C>G), RS1002683584 (11:62787720 C>A,T), RS1003279399 (11:62788957 C>T), RS1003370211 (11:62787905 A>G), RS1003721706 (11:62789241 G>A), RS1004269588 (11:62789577 AC>A), RS1004324732 (11:62790697 G>A), RS1005243987 (11:62788783 C>T), RS1005618868 (11:62788296 C>G,T), RS1006703629 (11:62787662 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

3 associations (top):

Study	Trait	p-value
GCST005956_2	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_37	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST005962_51	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	4
bisphenol A	increases expression	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Cadmium	increases abundance, decreases expression	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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