FAM186B

Summary

FAM186B (family with sequence similarity 186 member B, HGNC:25296) is a protein-coding gene on chromosome 12q13.12, encoding Protein FAM186B (Q8IYM0).

This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 84070 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 213 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_032130

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25296
Approved symbol	FAM186B
Name	family with sequence similarity 186 member B
Location	12q13.12
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434J0113
Ensembl gene	ENSG00000135436
Ensembl biotype	protein_coding
Entrez	84070

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000257894, ENST00000532262, ENST00000533372, ENST00000548841, ENST00000551047

RefSeq mRNA: 1 — MANE Select: NM_032130 NM_032130

CCDS: CCDS8788

Canonical transcript exons

ENST00000257894 — 7 exons

Exon	Start	End
ENSE00000919707	49587505	49587752
ENSE00001212001	49605382	49605639
ENSE00003468800	49599469	49601134
ENSE00003581322	49603185	49603367
ENSE00003599179	49598755	49598947
ENSE00003603425	49604313	49604538
ENSE00003692615	49588454	49588623

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 93.33.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1099 / max 116.3799, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130841	0.0875	4
130842	0.0224	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	93.33	gold quality
right testis	UBERON:0004534	92.73	gold quality
testis	UBERON:0000473	90.22	gold quality
kidney epithelium	UBERON:0004819	87.45	gold quality
left ventricle myocardium	UBERON:0006566	81.38	gold quality
cardiac muscle of right atrium	UBERON:0003379	81.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.65	gold quality
epithelial cell of pancreas	CL:0000083	78.80	gold quality
upper arm skin	UBERON:0004263	74.31	gold quality
myocardium	UBERON:0002349	73.80	gold quality
adult organism	UBERON:0007023	70.71	gold quality
sperm	CL:0000019	69.95	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.06	silver quality
nasal cavity epithelium	UBERON:0005384	68.94	gold quality
gingival epithelium	UBERON:0001949	68.39	gold quality
superficial temporal artery	UBERON:0001614	67.76	gold quality
vastus lateralis	UBERON:0001379	67.75	gold quality
quadriceps femoris	UBERON:0001377	67.66	gold quality
mucosa of paranasal sinus	UBERON:0005030	66.95	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	66.25	gold quality
epithelium of nasopharynx	UBERON:0001951	66.22	gold quality
colonic epithelium	UBERON:0000397	65.82	silver quality
gingiva	UBERON:0001828	65.79	gold quality
epithelium of mammary gland	UBERON:0003244	65.61	gold quality
mammary duct	UBERON:0001765	65.41	gold quality
sural nerve	UBERON:0015488	65.27	gold quality
buccal mucosa cell	CL:0002336	65.06	gold quality
muscle tissue	UBERON:0002385	63.42	gold quality
skeletal muscle tissue	UBERON:0001134	62.45	gold quality
stromal cell of endometrium	CL:0002255	62.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting FAM186B, 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-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-4254	99.11	65.15	1315

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam186b	ENSMUSG00000078907
rattus_norvegicus	Fam186b	ENSRNOG00000054250

Protein

Protein identifiers

Protein FAM186B — Q8IYM0 (reviewed: Q8IYM0)

All UniProt accessions (5): A0A0C4DGG0, E9PMM1, Q8IYM0, F8VRJ5, H0YIB0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM186 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IYM0-1	1	yes
Q8IYM0-2	2

RefSeq proteins (1): NP_115506* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR049144	FAM186A_B_N	Domain
IPR049146	FAM186A_B_C	Domain

Pfam: PF20865, PF20870

UniProt features (14 total): region of interest 5, compositionally biased region 3, splice variant 2, sequence variant 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYM0-F1	62.65	0.20

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): TGACATY_UNKNOWN, MYB_Q5_01, STK33_SKM_DN, ZIM3_TARGET_GENES, ZNF85_TARGET_GENES, WP_IL18_SIGNALING, DESCARTES_FETAL_KIDNEY_MEGAKARYOCYTES, GSE29614_CTRL_VS_DAY7_TIV_FLU_VACCINE_PBMC_UP, chr12q13, GSE26488_WT_VS_HDAC7_KO_DOUBLE_POSITIVE_THYMOCYTE_DN, GSE40274_FOXP3_VS_FOXP3_AND_SATB1_TRANSDUCED_ACTIVATED_CD4_TCELL_UP, TGAYRTCA_ATF3_Q6

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular_component	1

Protein interactions and networks

STRING

677 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM186B	RBM48	Q5RL73	525
FAM186B	NCKAP5L	Q9HCH0	471
FAM186B	ACTRT2	Q8TDY3	453
FAM186B	PRELID1	Q9Y255	351
FAM186B	BCDIN3D	Q7Z5W3	349
FAM186B	PRPF40B	Q6NWY9	333
FAM186B	PKHD1L1	Q86WI1	313
FAM186B	AQP6	Q13520	309
FAM186B	FMNL3	Q8IVF7	307
FAM186B	ARHGAP24	Q8N264	307
FAM186B	IFT81	Q8WYA0	304
FAM186B	PAPPA2	Q9BXP8	302
FAM186B	FAM193B	Q96PV7	290
FAM186B	PSME4	Q14997	283
FAM186B	ADAMTS7	Q9UKP4	275

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FAM186B	H1-2	psi-mi:“MI:0915”(physical association)	0.400
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
EMC8	KRT6A	psi-mi:“MI:0914”(association)	0.350
P/V	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): FAM186B (Affinity Capture-MS), FAM186B (Affinity Capture-MS), FAM186B (Affinity Capture-RNA), FAM186B (Proximity Label-MS), FAM186B (Affinity Capture-MS), FAM186B (Negative Genetic), FAM186B (Affinity Capture-MS), PPIA (Cross-Linking-MS (XL-MS)), DPYSL2 (Cross-Linking-MS (XL-MS)), DPYSL3 (Cross-Linking-MS (XL-MS)), FAM186B (Cross-Linking-MS (XL-MS)), FAM186B (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GTZ2, A3RM20, A4UHQ4, A6H7E2, A6NGH7, A9JSR5, B0BK70, O55527, O74982, P04861, P04862, P06747, P0C137, P0C139, P0C142, P14253, P14254, P33493, P35940, P40167, P69479, P69480, P69738, Q0GBX8, Q13352, Q14BK3, Q2T9U9, Q2YDE5, Q32L17, Q3UYG1, Q4KLZ4, Q4VKV6, Q5I0J4, Q5RE16, Q66HB6, Q6AXY9, Q810N5, Q8IR45, Q8IYM0, Q8NCU1

Diamond homologs: A6NE01, Q8IYM0, Q9D9R9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	141
Likely benign	36
Benign	26

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
548643	NM_032130.3(FAM186B):c.506-2A>G	Likely pathogenic

SpliceAI

1104 predictions. Top by Δscore:

Variant	Effect	Δscore
12:49588635:A:T	acceptor_gain	1.0000
12:49598749:GCCCA:G	donor_loss	1.0000
12:49598751:CCACC:C	donor_loss	1.0000
12:49598752:CA:C	donor_loss	1.0000
12:49598753:A:T	donor_loss	1.0000
12:49598943:CTTGC:C	acceptor_gain	1.0000
12:49598944:TTGC:T	acceptor_gain	1.0000
12:49598945:TGC:T	acceptor_gain	1.0000
12:49598946:GC:G	acceptor_gain	1.0000
12:49598947:CC:C	acceptor_gain	1.0000
12:49598948:C:CC	acceptor_gain	1.0000
12:49598948:C:CG	acceptor_loss	1.0000
12:49598949:T:G	acceptor_loss	1.0000
12:49599464:CCTA:C	donor_loss	1.0000
12:49599465:CTACC:C	donor_loss	1.0000
12:49599504:A:AC	donor_gain	1.0000
12:49599504:ATGG:A	donor_gain	1.0000
12:49599505:T:C	donor_gain	1.0000
12:49603181:CTA:C	donor_loss	1.0000
12:49603182:TA:T	donor_loss	1.0000
12:49603184:C:CA	donor_loss	1.0000
12:49603184:CCTTG:C	donor_gain	1.0000
12:49603186:TTGTG:T	donor_gain	1.0000
12:49603364:TCAC:T	acceptor_gain	1.0000
12:49603365:CACC:C	acceptor_gain	1.0000
12:49603367:CCT:C	acceptor_loss	1.0000
12:49603368:C:CC	acceptor_gain	1.0000
12:49603369:T:C	acceptor_loss	1.0000
12:49604309:TCA:T	donor_loss	1.0000
12:49604310:CACC:C	donor_loss	1.0000

AlphaMissense

5890 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:49600965:G:C	F225L	0.975
12:49600965:G:T	F225L	0.975
12:49600967:A:G	F225L	0.975
12:49600912:A:G	L243P	0.973
12:49600984:A:G	L219P	0.966
12:49603302:A:G	W130R	0.965
12:49603302:A:T	W130R	0.965
12:49604328:A:G	W103R	0.965
12:49604328:A:T	W103R	0.965
12:49604522:A:G	L38P	0.959
12:49598761:G:C	F786L	0.956
12:49598761:G:T	F786L	0.956
12:49598763:A:G	F786L	0.956
12:49603277:A:G	L138S	0.955
12:49600720:A:G	L307P	0.949
12:49605405:C:G	A25P	0.949
12:49600904:C:G	A246P	0.948
12:49600966:A:G	F225S	0.946
12:49603235:A:G	L152P	0.944
12:49604316:A:G	W107R	0.943
12:49604316:A:T	W107R	0.943
12:49604345:A:G	L97P	0.937
12:49604479:G:C	F52L	0.936
12:49604479:G:T	F52L	0.936
12:49604481:A:G	F52L	0.936
12:49603224:A:G	C156R	0.934
12:49603300:C:A	W130C	0.932
12:49603300:C:G	W130C	0.932
12:49604501:A:T	V45D	0.931
12:49600849:A:G	L264P	0.929

dbSNP variants (sampled 300 via entrez): RS1000064508 (12:49606603 AT>A), RS1000066217 (12:49598893 C>A,G,T), RS1000083730 (12:49606337 A>T), RS1000268506 (12:49614115 A>C,G), RS1000291828 (12:49613757 G>C), RS1000325522 (12:49613399 C>T), RS1000372089 (12:49620293 A>C,G), RS1000471861 (12:49606009 A>G), RS1000490065 (12:49619836 A>G), RS1000521519 (12:49591747 C>T), RS1000528457 (12:49586873 C>T), RS1000587176 (12:49620945 C>T), RS1000681604 (12:49586714 C>G), RS1000946854 (12:49600251 C>G,T), RS1001049219 (12:49593661 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:256100

GenCC curated gene-disease

Mondo (1): nephronophthisis (MONDO:0019005)

Orphanet (1): Nephronophthisis (Orphanet:655)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000090	Nephronophthisis

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST007096_58	Pulse pressure	1.000000e-11
GCST007097_106	Pulse pressure	4.000000e-08
GCST007097_107	Pulse pressure	2.000000e-06
GCST007099_16	Systolic blood pressure	3.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, increases methylation	2
sotorasib	affects cotreatment, increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression	1
abrine	increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01022957	Not specified	COMPLETED	Nephronophthisis : Clinical and Genetic Study
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT05286632	Not specified	COMPLETED	KidneYou - Innovative Digital Therapy
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT06648044	Not specified	RECRUITING	Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies