FAM86B2

Summary

FAM86B2 (family with sequence similarity 86 member B2, HGNC:32222) is a protein-coding gene on chromosome 8p23.1, encoding Putative protein N-methyltransferase FAM86B2 (P0C5J1).

Predicted to enable protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Part of protein-containing complex.

Source: NCBI Gene 653333 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_001137610

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32222
Approved symbol	FAM86B2
Name	family with sequence similarity 86 member B2
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000145002
Ensembl biotype	protein_coding
OMIM	616123
Entrez	653333

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 nonsense_mediated_decay, 4 protein_coding

ENST00000262365, ENST00000309608, ENST00000527331, ENST00000532480, ENST00000685726, ENST00000687060, ENST00000687949, ENST00000870195, ENST00000870196, ENST00000942450

RefSeq mRNA: 2 — MANE Select: NM_001137610 NM_001137610, NM_001421885

CCDS: CCDS59092

Canonical transcript exons

ENST00000262365 — 8 exons

Exon	Start	End
ENSE00001662660	12428633	12428898
ENSE00001685391	12430350	12430451
ENSE00002150384	12436248	12436400
ENSE00003597370	12428981	12429114
ENSE00003719504	12434052	12434114
ENSE00003722443	12432082	12432162
ENSE00003731923	12427657	12427806
ENSE00003935203	12424421	12425989

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 69.77.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	69.77	gold quality
stromal cell of endometrium	CL:0002255	64.32	gold quality
fallopian tube	UBERON:0003889	57.13	gold quality
ventricular zone	UBERON:0003053	56.94	gold quality
right coronary artery	UBERON:0001625	55.99	gold quality
cortical plate	UBERON:0005343	52.99	gold quality
prefrontal cortex	UBERON:0000451	50.57	gold quality
ganglionic eminence	UBERON:0004023	49.29	gold quality
pituitary gland	UBERON:0000007	48.77	gold quality
right adrenal gland cortex	UBERON:0035827	48.51	gold quality
skeletal muscle tissue	UBERON:0001134	48.38	silver quality
metanephros cortex	UBERON:0010533	47.84	gold quality
ectocervix	UBERON:0012249	46.78	gold quality
left adrenal gland cortex	UBERON:0035825	46.67	gold quality
ovary	UBERON:0000992	46.63	gold quality
right lung	UBERON:0002167	46.54	gold quality
left uterine tube	UBERON:0001303	46.48	gold quality
left ovary	UBERON:0002119	46.43	gold quality
body of uterus	UBERON:0009853	46.21	gold quality
thyroid gland	UBERON:0002046	45.74	gold quality
rectum	UBERON:0001052	45.72	gold quality
frontal cortex	UBERON:0001870	45.72	gold quality
nucleus accumbens	UBERON:0001882	45.69	gold quality
body of pancreas	UBERON:0001150	45.66	gold quality
uterine cervix	UBERON:0000002	45.63	gold quality
muscle tissue	UBERON:0002385	45.54	silver quality
adult mammalian kidney	UBERON:0000082	45.40	gold quality
gall bladder	UBERON:0002110	45.38	gold quality
pancreas	UBERON:0001264	44.99	gold quality
descending thoracic aorta	UBERON:0002345	44.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting FAM86B2, 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-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-145-3P	99.33	67.66	764
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-29A-5P	99.08	68.59	1813
HSA-MIR-589-5P	98.72	66.96	927
HSA-MIR-654-3P	98.38	67.61	905
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-526B-5P	97.41	67.99	1074
HSA-MIR-6874-5P	95.73	64.94	545
HSA-MIR-4633-3P	93.85	63.56	534
HSA-MIR-6500-5P	93.85	63.64	522

Literature-anchored findings (GeneRIF, showing 1)

• Identifies FAM86B2 as being one of 30 genes with the most variable copy numbers in three human genomes. (PMID:19718026)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eef2kmt	ENSDARG00000054950
mus_musculus	Eef2kmt	ENSMUSG00000022544
rattus_norvegicus	Eef2kmt	ENSRNOG00000002876
drosophila_melanogaster	CG7889	FBGN0031003
caenorhabditis_elegans		WBGENE00011144

Paralogs (2): EEF2KMT (ENSG00000118894), FAM86B1 (ENSG00000186523)

Protein

Protein identifiers

Putative protein N-methyltransferase FAM86B2 — P0C5J1 (reviewed: P0C5J1)

All UniProt accessions (6): P0C5J1, A0A8I5KNE8, A0A8I5KZ44, E9PLW5, E9PM45, E9PQV7

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with EEF2KMT.

Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family.

RefSeq proteins (2): NP_001131082, NP_001408814 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019410	Methyltransf_16	Family
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR029426	FAM86_N	Domain

Pfam: PF10294, PF14904

UniProt features (8 total): binding site 4, sequence variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C5J1-F1	89.95	0.77

Functional residue map

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

Ligand- & substrate-binding residues (4): 139; 165–167; 228; 247

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 38 (showing top): GOBP_METHYLATION, GOMF_N_METHYLTRANSFERASE_ACTIVITY, GOMF_PROTEIN_METHYLTRANSFERASE_ACTIVITY, GOMF_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_LYSINE_N_METHYLTRANSFERASE_ACTIVITY, BILD_MYC_ONCOGENIC_SIGNATURE, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, MIR29A_5P, MIR3198, MIR4309, GSE14308_TH2_VS_NAIVE_CD4_TCELL_DN, GSE14308_TH1_VS_NAIVE_CD4_TCELL_DN, GSE14308_TH17_VS_NAIVE_CD4_TCELL_DN

GO Biological Process (1): methylation (GO:0032259)

GO Molecular Function (4): protein-lysine N-methyltransferase activity (GO:0016279), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metabolic process	1
protein methyltransferase activity	1
lysine N-methyltransferase activity	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
cellular_component	1

Protein interactions and networks

STRING

169 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM86B2	GOLGA8Q	H3BV12	571
FAM86B2	RIMBP3C	A6NJZ7	541
FAM86B2	ZNF705D	P0CH99	481
FAM86B2	ZNF891	A8MT65	449
FAM86B2	DEFB108B	Q8NET1	448
FAM86B2	A0A0G2JN59	A0A0G2JN59	447
FAM86B2	DEFB107A	Q8IZN7	447
FAM86B2	CTAGE8	P0CG41	446
FAM86B2	SRGAP2C	P0DJJ0	431
FAM86B2	PCDHB11	Q9Y5F2	413
FAM86B2	DEFB106A	Q8N104	392
FAM86B2	DEFB105A	Q8NG35	375
FAM86B2	DEFB135	Q30KP9	373
FAM86B2	MOB4	Q9Y3A3	373
FAM86B2	STAG3	Q9UJ98	349

IntAct

3 interactions, top by confidence:

A	B	Type	Score
RFFL	TUSC2	psi-mi:“MI:0914”(association)	0.530
EEF2KMT	FAM86B2	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): FAM86B2 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), CCT5 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT8 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), TUBB2A (Affinity Capture-MS), TUBB3 (Affinity Capture-MS), TUBB4A (Affinity Capture-MS), TUBB6 (Affinity Capture-MS), UBB (Affinity Capture-MS)

ESM2 similar proteins: A2AA28, A4FV42, A4IGU3, A5PK19, A6QP81, A7MBI7, D3YWP0, F6PHZ6, O88587, P0C5J1, P13439, P17256, P21964, P22734, P55345, Q03426, Q14CH1, Q1JPJ9, Q28IN4, Q3TY86, Q3UZW7, Q497B8, Q4JIJ2, Q569C4, Q5BLD8, Q5E9T8, Q5H879, Q5RE14, Q5VZV1, Q6DJF8, Q6GQ33, Q6P3E7, Q8BLU2, Q8BNV1, Q8C1A3, Q8C436, Q8CDZ2, Q8N6R0, Q8N7N1, Q8WXB1

Diamond homologs: A6NEL3, P0C5J1, Q1JPJ9, Q3UZW7, Q8N7N1, Q96G04, Q9NVL1, A4FV42, A4FV98, A4IGU3, A6NDL7, A6QP81, A7IQW5, D3YWP0, F4JNX3, O14118, P38347, P40389, Q28IN4, Q58DC7, Q5BLD8, Q5VZV1, Q8BLU2, Q8C436, Q8CDZ2, Q8R1C6, Q8WXB1, Q96AZ1, Q9CQL0, Q9H867, A2AA28, A4XKA6, B5YDR3, B9K9N3, B9MJY9, O86951, P0CP44, P0CP45, P0CU27, P47163

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1514 predictions. Top by Δscore:

Variant	Effect	Δscore
8:12427593:T:TA	donor_gain	1.0000
8:12427660:G:C	donor_gain	1.0000
8:12427827:TA:T	acceptor_gain	1.0000
8:12427829:C:CC	acceptor_gain	1.0000
8:12428894:CAGTC:C	acceptor_gain	1.0000
8:12430448:CGTG:C	acceptor_gain	1.0000
8:12430452:C:CC	acceptor_gain	1.0000
8:12427564:G:C	donor_gain	0.9900
8:12427593:TCC:T	donor_gain	0.9900
8:12427594:C:A	donor_gain	0.9900
8:12427659:AG:A	donor_gain	0.9900
8:12427713:TAG:T	donor_gain	0.9900
8:12427714:AGA:A	donor_gain	0.9900
8:12427802:CACGT:C	acceptor_gain	0.9900
8:12427804:CGT:C	acceptor_gain	0.9900
8:12427807:C:CC	acceptor_gain	0.9900
8:12427824:GGTTA:G	acceptor_gain	0.9900
8:12427825:GTTA:G	acceptor_gain	0.9900
8:12427826:TTA:T	acceptor_gain	0.9900
8:12428627:CATTA:C	donor_loss	0.9900
8:12428628:ATTAC:A	donor_loss	0.9900
8:12428629:TTACC:T	donor_loss	0.9900
8:12428630:TAC:T	donor_loss	0.9900
8:12428631:A:C	donor_loss	0.9900
8:12428632:C:T	donor_loss	0.9900
8:12428632:CCTG:C	donor_gain	0.9900
8:12428778:C:A	donor_gain	0.9900
8:12428896:GTC:G	acceptor_gain	0.9900
8:12428897:TC:T	acceptor_gain	0.9900
8:12428897:TCCT:T	acceptor_loss	0.9900

AlphaMissense

2120 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:12436284:G:C	F20L	0.853
8:12436284:G:T	F20L	0.853
8:12436286:A:G	F20L	0.853
8:12436296:A:C	F16L	0.805
8:12436296:A:T	F16L	0.805
8:12436298:A:G	F16L	0.805
8:12428989:G:C	F156L	0.793
8:12428989:G:T	F156L	0.793
8:12428991:A:G	F156L	0.793
8:12432103:A:C	F73L	0.784
8:12432103:A:T	F73L	0.784
8:12432105:A:G	F73L	0.784
8:12427703:A:C	F282L	0.778
8:12427703:A:T	F282L	0.778
8:12427705:A:G	F282L	0.778
8:12428817:G:C	F186L	0.764
8:12428817:G:T	F186L	0.764
8:12428819:A:G	F186L	0.764
8:12427670:G:C	F293L	0.745
8:12427670:G:T	F293L	0.745
8:12427672:A:G	F293L	0.745
8:12436257:G:C	F29L	0.669
8:12436257:G:T	F29L	0.669
8:12436259:A:G	F29L	0.669
8:12428877:A:C	S166R	0.617
8:12428877:A:T	S166R	0.617
8:12428879:T:G	S166R	0.617
8:12428814:G:C	S187R	0.609
8:12428814:G:T	S187R	0.609
8:12428816:T:G	S187R	0.609

dbSNP variants (sampled 300 via entrez): RS1002748380 (8:12425274 T>A,C), RS1003084492 (8:12424271 C>A), RS1003673537 (8:12432333 C>T), RS1004151967 (8:12433052 G>A,C,T), RS1005092809 (8:12438122 G>A), RS1007189017 (8:12429965 G>A,C), RS1007737033 (8:12428762 C>T), RS1008325154 (8:12435308 TCAAA>T), RS1008605920 (8:12436257 G>C,T), RS1011282250 (8:12424829 G>A), RS1011389347 (8:12428470 C>A,G,T), RS1011482748 (8:12426051 G>A,C), RS1012518922 (8:12433195 T>A,G), RS1012698515 (8:12432436 C>T), RS1015219289 (8:12436457 G>A)

Disease associations

OMIM: gene MIM:616123 | 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

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

Chemical	Actions (top 5)	PubMed papers
ferrous chloride	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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