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Atlas / Gene / FAM186A

FAM186A

gene
On this page

Also known as LOC121006

Summary

FAM186A (family with sequence similarity 186 member A, HGNC:26980) is a protein-coding gene on chromosome 12q13.12, encoding Protein FAM186A (A6NE01).

At a glance

  • GWAS associations: 11
  • Clinical variants (ClinVar): 392 total
  • MANE Select transcript: NM_001145475

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26980
Approved symbolFAM186A
Namefamily with sequence similarity 186 member A
Location12q13.12
Locus typegene with protein product
StatusApproved
AliasesLOC121006
Ensembl geneENSG00000185958
Ensembl biotypeprotein_coding
Entrez121006

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000327337, ENST00000539751, ENST00000543111

RefSeq mRNA: 1 — MANE Select: NM_001145475 NM_001145475

CCDS: CCDS44878

Canonical transcript exons

ENST00000327337 — 8 exons

ExonStartEnd
ENSE000013017095033167050331821
ENSE000015635885033391150334103
ENSE000016810765035032950356248
ENSE000016878435036075650360926
ENSE000017117055036314550363364
ENSE000017616835032730950327404
ENSE000022783085039629350396609
ENSE000034608545033057350330758

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 81.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0136 / max 12.1793, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1309140.01363

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right testisUBERON:000453481.92gold quality
left testisUBERON:000453381.33gold quality
testisUBERON:000047377.38gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099160.04gold quality
sural nerveUBERON:001548858.97silver quality
colonic epitheliumUBERON:000039757.74gold quality
mucosa of transverse colonUBERON:000499156.56gold quality
spermCL:000001956.22gold quality
apex of heartUBERON:000209855.60gold quality
hindlimb stylopod muscleUBERON:000425254.77gold quality
putamenUBERON:000187454.09gold quality
adenohypophysisUBERON:000219653.90gold quality
pituitary glandUBERON:000000753.81gold quality
nucleus accumbensUBERON:000188253.27gold quality
cerebellar hemisphereUBERON:000224552.81gold quality
caudate nucleusUBERON:000187352.80gold quality
cerebellar cortexUBERON:000212952.73gold quality
cerebellumUBERON:000203751.76gold quality
lower lobe of lungUBERON:000894951.28silver quality
right hemisphere of cerebellumUBERON:001489051.01gold quality
heart left ventricleUBERON:000208450.67gold quality
cardiac ventricleUBERON:000208250.36gold quality
right coronary arteryUBERON:000162550.29gold quality
muscle of legUBERON:000138350.25gold quality
right adrenal glandUBERON:000123350.22gold quality
right lobe of liverUBERON:000111449.97gold quality
right adrenal gland cortexUBERON:003582749.89gold quality
right uterine tubeUBERON:000130249.68gold quality
cortex of kidneyUBERON:000122549.51gold quality
metanephros cortexUBERON:001053349.34gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes5.69

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusFam186aENSMUSG00000045350
rattus_norvegicusENSRNOG00000065389

Protein

Protein identifiers

Protein FAM186A — A6NE01 (reviewed: A6NE01)

All UniProt accessions (3): A6NE01, F5GYN0, H0YFA1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM186 family.

RefSeq proteins (1): NP_001138947* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR049144FAM186A_B_NDomain
IPR049146FAM186A_B_CDomain
IPR049147FAM186A_PQQAQRepeat

Pfam: PF20865, PF20869, PF20870

UniProt features (34 total): compositionally biased region 13, region of interest 8, sequence variant 7, sequence conflict 3, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-A6NE01-F150.380.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, MIKKELSEN_ES_ICP_WITH_H3K4ME3, HES2_TARGET_GENES, HHEX_TARGET_GENES, HMG20B_TARGET_GENES, PRMT5_TARGET_GENES, SFMBT1_TARGET_GENES, TAFAZZIN_TARGET_GENES, ZNF362_TARGET_GENES, GSE13485_CTRL_VS_DAY7_YF17D_VACCINE_PBMC_UP, GSE13485_PRE_VS_POST_YF17D_VACCINATION_PBMC_UP, DESCARTES_MAIN_FETAL_CORNEAL_AND_CONJUNCTIVAL_EPITHELIAL_CELLS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

753 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FAM186AFAM47CQ5HY64541
FAM186AFER1L6Q2WGJ9448
FAM186AGOLGA6L2Q8N9W4448
FAM186AFAM170BA6NMN3446
FAM186AUTP23Q9BRU9418
FAM186AOR2T4Q8NH00418
FAM186ADIP2BQ9P265406
FAM186ATMPRSS15P98073402
FAM186AZNF850A8MQ14398
FAM186ACWF19L2Q2TBE0396
FAM186ANPYP01303380
FAM186AC21orf58P58505370
FAM186AHEATR5AQ86XA9368
FAM186AKIAA1614Q5VZ46363
FAM186ANCKAP5LQ9HCH0348

IntAct

5 interactions, top by confidence:

ABTypeScore
Prdm16ESYT2psi-mi:“MI:0914”(association)0.350
MecomESYT2psi-mi:“MI:0914”(association)0.350
RYBPFAM186Apsi-mi:“MI:0914”(association)0.350
SMARCB1FAM186Apsi-mi:“MI:2364”(proximity)0.270

BioGRID (11): FAM186A (Affinity Capture-MS), FAM186A (Affinity Capture-MS), FAM186A (Reconstituted Complex), FAM186A (Cross-Linking-MS (XL-MS)), FAM186A (Cross-Linking-MS (XL-MS)), HSPE1 (Cross-Linking-MS (XL-MS)), FAM186A (Cross-Linking-MS (XL-MS)), KIAA0100 (Cross-Linking-MS (XL-MS)), PLA2G4D (Cross-Linking-MS (XL-MS)), NOLC1 (Cross-Linking-MS (XL-MS)), STX7 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GTZ2, A1KXM5, A2AEY4, A4UHQ4, A6NE01, F4IHS2, F4J1G1, F6XZJ7, O55527, O75969, P04861, P04862, P06162, P06163, P11459, P14253, P14254, P28055, P32533, P35940, P69738, Q03703, Q06813, Q07967, Q09280, Q09458, Q11114, Q11194, Q2T9U9, Q2YDE5, Q53TS8, Q5JVX7, Q66H17, Q6UW49, Q6X1D3, Q8R0E5, Q8TAL5, Q94CG5, Q95J40, Q95JN2

Diamond homologs: A6NE01, Q8IYM0, Q9D9R9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance323
Likely benign61
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1595 predictions. Top by Δscore:

VariantEffectΔscore
12:50331822:C:CCacceptor_gain1.0000
12:50331824:A:Cacceptor_gain1.0000
12:50333907:TTAC:Tdonor_loss1.0000
12:50333908:TACCT:Tdonor_loss1.0000
12:50333910:C:CGdonor_loss1.0000
12:50334103:CC:Cacceptor_loss1.0000
12:50334103:CCT:Cacceptor_gain1.0000
12:50334104:C:CCacceptor_gain1.0000
12:50334104:CTTGA:Cacceptor_loss1.0000
12:50334105:T:Cacceptor_gain1.0000
12:50334105:T:TCacceptor_gain1.0000
12:50356249:C:CCacceptor_gain1.0000
12:50360754:A:ACdonor_gain1.0000
12:50360755:C:CCdonor_gain1.0000
12:50360928:T:Cacceptor_gain1.0000
12:50363106:A:Cdonor_gain1.0000
12:50363143:A:ACdonor_gain1.0000
12:50363143:ACT:Adonor_gain1.0000
12:50363144:C:CCdonor_gain1.0000
12:50363144:CT:Cdonor_gain1.0000
12:50363144:CTC:Cdonor_gain1.0000
12:50365614:T:TAdonor_gain1.0000
12:50365615:C:Adonor_gain1.0000
12:50396289:CTAC:Cdonor_loss1.0000
12:50396290:TACCT:Tdonor_loss1.0000
12:50396291:ACCTC:Adonor_loss1.0000
12:50396292:C:Tdonor_loss1.0000
12:50396292:CCTCT:Cdonor_gain1.0000
12:50331663:CACAT:Cdonor_loss0.9900
12:50331664:ACAT:Adonor_loss0.9900

AlphaMissense

15344 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:50356222:A:GW204R0.993
12:50356222:A:TW204R0.993
12:50356220:C:AW204C0.992
12:50356220:C:GW204C0.992
12:50356101:A:GL244P0.989
12:50356231:A:GW201R0.988
12:50356231:A:TW201R0.988
12:50356229:C:AW201C0.987
12:50356229:C:GW201C0.987
12:50363348:A:GL70P0.985
12:50356029:A:GL268P0.984
12:50356082:G:CF250L0.981
12:50356082:G:TF250L0.981
12:50356084:A:GF250L0.981
12:50396303:C:GR61P0.981
12:50396316:C:GA57P0.980
12:50356110:A:GL241P0.979
12:50396301:C:GA62P0.979
12:50356063:C:GA257P0.971
12:50356071:T:AE254V0.964
12:50356221:C:GW204S0.964
12:50355873:A:GL320P0.960
12:50363148:A:GW137R0.959
12:50363148:A:TW137R0.959
12:50356021:C:GA271P0.958
12:50356062:G:TA257D0.958
12:50350485:A:GL2116P0.956
12:50354793:A:GL680P0.955
12:50356230:C:GW201S0.954
12:50356122:A:GI237T0.953

dbSNP variants (sampled 300 via entrez): RS1000000638 (12:50388145 G>A,T), RS1000013187 (12:50334806 C>A,G), RS1000017580 (12:50374747 C>T), RS1000139337 (12:50362900 G>A), RS1000151225 (12:50382035 G>A), RS1000151689 (12:50330900 T>C), RS1000178221 (12:50380888 G>A), RS1000243423 (12:50384492 A>C), RS1000261933 (12:50355470 C>A,G,T), RS1000348619 (12:50369117 T>C), RS1000409304 (12:50384752 T>A), RS1000431830 (12:50342835 G>A,C,T), RS1000443311 (12:50335421 G>A), RS1000472315 (12:50369446 G>A), RS1000542964 (12:50396545 A>G)

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

11 associations (top):

StudyTraitp-value
GCST004610_129White blood cell count1.000000e-09
GCST004613_28Sum neutrophil eosinophil counts6.000000e-10
GCST004614_6Granulocyte count1.000000e-09
GCST004620_126Sum basophil neutrophil counts1.000000e-09
GCST004626_116Myeloid white cell count1.000000e-09
GCST004629_101Neutrophil count6.000000e-10
GCST005580_175Intraocular pressure1.000000e-08
GCST007928_36Medication use (diuretics)4.000000e-08
GCST010703_176Brain morphology (MOSTest)5.000000e-11
GCST90002398_140Neutrophil count4.000000e-16
GCST90002407_284White blood cell count2.000000e-20

EFO canonical traits (7, from GWAS)

EFO IDTrait name
EFO:0004833neutrophil count
EFO:0004842eosinophil count
EFO:0007987granulocyte count
EFO:0005090basophil count
EFO:0004695intraocular pressure measurement
EFO:0009928Diuretic use measurement
EFO:0004346neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

ChemicalActions (top 5)PubMed papers
aristolochic acid Iincreases expression1
butyraldehydeincreases expression1
Allergensincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Aflatoxin B1increases methylation1
Antirheumatic Agentsdecreases expression1
S-Nitrosoglutathioneincreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

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
v1.1.4
BioBTree
v2.0.2

Sources 73

This page pulls from 73 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot