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Atlas / Gene / TMEM179

TMEM179

gene
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Also known as FLJ42486TMEM179A

Summary

TMEM179 (transmembrane protein 179, HGNC:20137) is a protein-coding gene on chromosome 14q32.33, encoding Transmembrane protein 179 (Q6ZVK1).

Predicted to be located in membrane.

Source: NCBI Gene 388021 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • MANE Select transcript: NM_001286389

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20137
Approved symbolTMEM179
Nametransmembrane protein 179
Location14q32.33
Locus typegene with protein product
StatusApproved
AliasesFLJ42486, TMEM179A
Ensembl geneENSG00000258986
Ensembl biotypeprotein_coding
OMIM621219
Entrez388021

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000341595, ENST00000415614, ENST00000556320, ENST00000556573, ENST00000615704, ENST00000616017

RefSeq mRNA: 2 — MANE Select: NM_001286389 NM_001286389, NM_001286390

CCDS: CCDS66723, CCDS73688

Canonical transcript exons

ENST00000556573 — 4 exons

ExonStartEnd
ENSE00001648955104590864104593658
ENSE00002521333104604437104604772
ENSE00003066306104596990104597127
ENSE00003068043104595165104595243

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 93.77.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2806 / max 56.8086, expressed in 273 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1451271.2806273

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
hypothalamusUBERON:000189893.77gold quality
pituitary glandUBERON:000000793.67gold quality
nucleus accumbensUBERON:000188293.56gold quality
putamenUBERON:000187493.33gold quality
right frontal lobeUBERON:000281092.86gold quality
dorsolateral prefrontal cortexUBERON:000983492.69gold quality
Brodmann (1909) area 9UBERON:001354092.64gold quality
caudate nucleusUBERON:000187392.16gold quality
anterior cingulate cortexUBERON:000983592.02gold quality
adenohypophysisUBERON:000219691.85gold quality
superior frontal gyrusUBERON:000266191.71gold quality
primary visual cortexUBERON:000243691.44gold quality
brainUBERON:000095590.72gold quality
Ammon’s hornUBERON:000195490.56gold quality
cerebral cortexUBERON:000095690.42gold quality
temporal lobeUBERON:000187190.17gold quality
substantia nigraUBERON:000203890.09gold quality
amygdalaUBERON:000187690.04gold quality
right hemisphere of cerebellumUBERON:001489089.15gold quality
frontal cortexUBERON:000187088.88gold quality
cerebellar hemisphereUBERON:000224587.73gold quality
cerebellumUBERON:000203787.72gold quality
cerebellar cortexUBERON:000212987.63gold quality
prefrontal cortexUBERON:000045185.79gold quality
C1 segment of cervical spinal cordUBERON:000646984.51gold quality
islet of LangerhansUBERON:000000683.55gold quality
cortical plateUBERON:000534383.22gold quality
ganglionic eminenceUBERON:000402380.10gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047377.66gold quality
right adrenal glandUBERON:000123375.63gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.69

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriotmem179aaENSDARG00000013292
danio_rerioTMEM179ENSDARG00000090064
mus_musculusTmem179ENSMUSG00000054013
rattus_norvegicusTmem179ENSRNOG00000013128
drosophila_melanogasterCG13603FBGN0039135

Protein

Protein identifiers

Transmembrane protein 179 — Q6ZVK1 (reviewed: Q6ZVK1)

Alternative names: Transmembrane protein 179A

All UniProt accessions (5): A0A087X0S3, Q6ZVK1, H0YJT8, I3L0F2, Q7Z4P9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM179 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q6ZVK1-11yes
Q6ZVK1-22

RefSeq proteins (2): NP_001273318, NP_001273319 (=MANE)

Domains & families (InterPro)

IDNameType
IPR029673TMEM179Family
IPR059010TMEM179-179BFamily

Pfam: PF26158

UniProt features (8 total): transmembrane region 4, splice variant 2, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6ZVK1-F188.990.64

Functional residue map

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

Glycosylation sites (1): 51

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): TGCGCANK_UNKNOWN, LHX3_01, AML_Q6, chr14q32, NRSF_01, TAATTA_CHX10_01, YGCGYRCGC_UNKNOWN, GATA_C, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, MARTENS_TRETINOIN_RESPONSE_UP, BILANGES_RAPAMYCIN_SENSITIVE_GENES, DELACROIX_RARG_BOUND_MEF, NRF1_Q6, CBX5_TARGET_GENES, E2F5_TARGET_GENES

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:

CategoryTerms
cellular anatomical structure1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TMEM179OR4F15Q8NGB8570
TMEM179KIF26AQ9ULI4496
TMEM179OR4F6Q8NGB9480
TMEM179TMEM128Q5BJH2479
TMEM179COA8Q96IL0479
TMEM179TMEM278A6NKF7476
TMEM179BCCIPQ9P287473
TMEM179EDRF1Q3B7T1453
TMEM179FAM81AQ8TBF8451
TMEM179TMEM179BQ7Z7N9448
TMEM179THSD7AQ9UPZ6448
TMEM179OR4F4Q96R69447
TMEM179SRP14P37108430
TMEM179FAM204AQ9H8W3424
TMEM179ENTREP2O60320420

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4IFN5, A6NDV4, B1AWJ5, B1AZA5, B2LYG4, P59266, Q05B45, Q0VCJ8, Q3KRC4, Q3UMZ3, Q5EA70, Q5H8A4, Q5QJU3, Q5RBJ7, Q5U3C3, Q5VTY9, Q5ZMH6, Q6PHN7, Q6TCH4, Q6W5G4, Q6ZVK1, Q7Z7J7, Q865K8, Q86WK9, Q8BHH9, Q8BMT9, Q8BWB6, Q8C1E7, Q8K3J9, Q8N6M3, Q8NBT3, Q8NEB5, Q8NFT2, Q8VCW4, Q8VCY8, Q8VD53, Q8VDI9, Q96GM1, Q9BSA9, Q9BXJ8

Diamond homologs: Q6AZD1, Q6ZVK1, Q8BHH9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance0
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1765 predictions. Top by Δscore:

VariantEffectΔscore
14:104586538:GAGG:Gdonor_gain1.0000
14:104586540:GG:Gdonor_gain1.0000
14:104586541:GG:Gdonor_gain1.0000
14:104587879:G:GGdonor_gain1.0000
14:104588269:CGCA:Cacceptor_loss1.0000
14:104588271:CA:Cacceptor_loss1.0000
14:104588272:A:ACacceptor_loss1.0000
14:104588272:A:AGacceptor_gain1.0000
14:104588273:G:GGacceptor_gain1.0000
14:104588273:GA:Gacceptor_gain1.0000
14:104588273:GAC:Gacceptor_gain1.0000
14:104588273:GACA:Gacceptor_gain1.0000
14:104588307:GGG:Gdonor_gain1.0000
14:104588307:GGGGT:Gdonor_loss1.0000
14:104588308:GG:Gdonor_gain1.0000
14:104588308:GGG:Gdonor_gain1.0000
14:104588308:GGGTG:Gdonor_loss1.0000
14:104588309:GG:Gdonor_gain1.0000
14:104588309:GGT:Gdonor_loss1.0000
14:104593654:CCAAA:Cacceptor_gain1.0000
14:104593655:CAAA:Cacceptor_gain1.0000
14:104593655:CAAAC:Cacceptor_gain1.0000
14:104593659:C:CCacceptor_gain1.0000
14:104595159:CCCTA:Cdonor_loss1.0000
14:104595160:CCTA:Cdonor_loss1.0000
14:104595161:CTA:Cdonor_loss1.0000
14:104595162:TACCT:Tdonor_loss1.0000
14:104595163:A:Tdonor_loss1.0000
14:104595239:CACAG:Cacceptor_gain1.0000
14:104595241:CAG:Cacceptor_gain1.0000

AlphaMissense

1531 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:104597058:G:CS125R0.995
14:104597058:G:TS125R0.995
14:104597060:T:GS125R0.995
14:104604547:C:AW65C0.995
14:104604547:C:GW65C0.995
14:104597030:A:GW135R0.994
14:104597030:A:TW135R0.994
14:104597042:C:GG131R0.994
14:104597046:G:CS129R0.994
14:104597046:G:TS129R0.994
14:104597048:T:GS129R0.994
14:104604616:G:CF42L0.994
14:104604616:G:TF42L0.994
14:104604618:A:GF42L0.994
14:104604627:A:GC39R0.994
14:104597026:C:GC136S0.992
14:104597027:A:TC136S0.992
14:104597041:C:TG131D0.992
14:104604563:A:GF60S0.992
14:104593631:A:GW184R0.991
14:104593631:A:TW184R0.991
14:104604601:C:AW47C0.991
14:104604601:C:GW47C0.991
14:104604679:G:CS21R0.991
14:104604679:G:TS21R0.991
14:104604681:T:GS21R0.991
14:104595241:C:TC149Y0.990
14:104597026:C:TC136Y0.990
14:104604546:C:GG66R0.990
14:104593640:A:GW181R0.989

dbSNP variants (sampled 300 via entrez): RS1000041353 (14:104603303 G>A,C), RS1000280815 (14:104597981 A>G), RS1000455392 (14:104606453 C>T), RS1000487995 (14:104593124 C>A,T), RS1000503109 (14:104599208 G>A,T), RS1000569150 (14:104598167 T>C), RS1000824939 (14:104594237 A>G), RS1000994329 (14:104591321 G>A,C), RS1001021633 (14:104598934 G>A,C,T), RS1001148773 (14:104600611 TACTCATTCATTCATTCATTCATTCATTC>T), RS1001540897 (14:104602588 G>A), RS1001965733 (14:104598599 A>T), RS1001985725 (14:104604078 T>C), RS1002001905 (14:104598897 C>T), RS1002116321 (14:104598694 G>A)

Disease associations

OMIM: gene MIM:621219 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

StudyTraitp-value
GCST004746_41Small cell lung carcinoma5.000000e-06
GCST007637_52Diffusing capacity of carbon monoxide9.000000e-06
GCST008103_137Bipolar disorder2.000000e-06
GCST008115_19Bipolar I disorder2.000000e-07

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0009369diffusing capacity of the lung for carbon monoxide
EFO:0009963bipolar I disorder

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

ChemicalActions (top 5)PubMed papers
ethyl-p-hydroxybenzoatedecreases expression1
tebuconazoledecreases expression1
Benzo(a)pyreneincreases methylation1
Acrylamidedecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): small cell lung carcinoma

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot