FAM86B1

Summary

FAM86B1 (family with sequence similarity 86 member B1 (gene/pseudogene), HGNC:28268) is a protein-coding gene on chromosome 8p23.1, encoding Putative protein N-methyltransferase FAM86B1 (Q8N7N1).

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

Source: NCBI Gene 85002 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_001083537

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28268
Approved symbol	FAM86B1
Name	family with sequence similarity 86 member B1 (gene/pseudogene)
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC16279
Ensembl gene	ENSG00000186523
Ensembl biotype	protein_coding
OMIM	616122
Entrez	85002

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 10 nonsense_mediated_decay, 7 protein_coding, 4 retained_intron

ENST00000340537, ENST00000431227, ENST00000448228, ENST00000524571, ENST00000524893, ENST00000525822, ENST00000526708, ENST00000527300, ENST00000529060, ENST00000529146, ENST00000529617, ENST00000530385, ENST00000530508, ENST00000531833, ENST00000533513, ENST00000533852, ENST00000534187, ENST00000534520, ENST00000534732, ENST00000922474, ENST00000955278

RefSeq mRNA: 1 — MANE Select: NM_001083537 NM_001083537

CCDS: CCDS59512

Canonical transcript exons

ENST00000448228 — 7 exons

Exon	Start	End
ENSE00001793035	12182106	12183706
ENSE00002167672	12193975	12194082
ENSE00003510982	12186700	12186833
ENSE00003521887	12185376	12185525
ENSE00003532400	12189808	12189888
ENSE00003574955	12186352	12186617
ENSE00003652565	12191779	12191841

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 94.93.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.93	gold quality
pituitary gland	UBERON:0000007	89.26	gold quality
adenohypophysis	UBERON:0002196	88.61	gold quality
nucleus accumbens	UBERON:0001882	88.30	gold quality
cortical plate	UBERON:0005343	86.50	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.19	gold quality
caudate nucleus	UBERON:0001873	86.10	gold quality
fallopian tube	UBERON:0003889	86.05	gold quality
cerebellar hemisphere	UBERON:0002245	85.26	gold quality
cerebellar cortex	UBERON:0002129	85.23	gold quality
cerebellum	UBERON:0002037	85.22	gold quality
right frontal lobe	UBERON:0002810	85.09	gold quality
hypothalamus	UBERON:0001898	84.79	gold quality
brain	UBERON:0000955	84.66	gold quality
putamen	UBERON:0001874	84.41	gold quality
left ovary	UBERON:0002119	84.26	gold quality
anterior cingulate cortex	UBERON:0009835	83.98	gold quality
superior frontal gyrus	UBERON:0002661	83.71	gold quality
ovary	UBERON:0000992	83.67	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.46	gold quality
frontal cortex	UBERON:0001870	83.43	gold quality
cerebral cortex	UBERON:0000956	83.39	gold quality
temporal lobe	UBERON:0001871	83.26	gold quality
amygdala	UBERON:0001876	83.21	gold quality
primary visual cortex	UBERON:0002436	82.96	gold quality
Ammon’s horn	UBERON:0001954	82.77	gold quality
right ovary	UBERON:0002118	82.63	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.61	gold quality
body of uterus	UBERON:0009853	82.43	gold quality
prefrontal cortex	UBERON:0000451	82.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.93

Regulation

Is transcription factor: no

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), FAM86B2 (ENSG00000145002)

Protein

Protein identifiers

Putative protein N-methyltransferase FAM86B1 — Q8N7N1 (reviewed: Q8N7N1)

All UniProt accessions (12): E9PLC7, E9PLW5, E9PM45, E9PN63, E9PNH4, E9PRJ7, Q8N7N1, F6TTG8, H0YD24, H0YDM8, R4GN25, R4GNF6

UniProt curated annotations — full annotation on UniProt →

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

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N7N1-1	1	yes
Q8N7N1-2	2
Q8N7N1-3	3

RefSeq proteins (1): NP_001077006* (*=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 (9 total): binding site 4, splice variant 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7N1-F1	89.99	0.75

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

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (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, GOMF_LYSINE_N_METHYLTRANSFERASE_ACTIVITY, FORTSCHEGGER_PHF8_TARGETS_UP, MIR3119, MIR7113_5P, MIR5187_5P, MIR3928_3P, MIR4294, MIR4648, MIR5699_3P, MIR3198

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

GO Molecular Function (3): protein-lysine N-methyltransferase activity (GO:0016279), 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
transferase activity, transferring one-carbon groups	1
catalytic activity	1
cellular_component	1

Protein interactions and networks

STRING

142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM86B1	DEFB135	Q30KP9	577
FAM86B1	DEFB134	Q4QY38	577
FAM86B1	KRABD2	Q6ZNG9	507
FAM86B1	CCDC9B	Q6ZUT6	507
FAM86B1	KRABD3	A5PL33	476
FAM86B1	TMEM44	Q2T9K0	474
FAM86B1	SERGEF	Q9UGK8	447
FAM86B1	TMEM120B	A0PK00	419
FAM86B1	CASD1	Q96PB1	393
FAM86B1	STAG3	Q9UJ98	349
FAM86B1	MTMR12	Q9C0I1	347
FAM86B1	ZNF487	B1APH4	326
FAM86B1	TSEN54	Q7Z6J9	323
FAM86B1	TRANK1	O15050	312
FAM86B1	H7C0V5	H7C0V5	311

IntAct

3 interactions, top by confidence:

A	B	Type	Score
FAM86C1P	ZBTB39	psi-mi:“MI:0914”(association)	0.350
LCOR	FAM86B1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): FAM86B1 (Affinity Capture-MS), FAM86B1 (Two-hybrid)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1448 predictions. Top by Δscore:

Variant	Effect	Δscore
8:12185312:T:TA	donor_gain	1.0000
8:12185379:G:C	donor_gain	1.0000
8:12185546:TA:T	acceptor_gain	1.0000
8:12185548:C:CC	acceptor_gain	1.0000
8:12186613:CAGTC:C	acceptor_gain	1.0000
8:12186841:A:T	acceptor_gain	1.0000
8:12188170:CGTG:C	acceptor_gain	1.0000
8:12188174:C:CC	acceptor_gain	1.0000
8:12194023:AAAAC:A	donor_gain	1.0000
8:12185312:TCC:T	donor_gain	0.9900
8:12185313:C:A	donor_gain	0.9900
8:12185378:AG:A	donor_gain	0.9900
8:12185521:CACGT:C	acceptor_gain	0.9900
8:12185523:CGT:C	acceptor_gain	0.9900
8:12185526:C:CC	acceptor_gain	0.9900
8:12185543:GGTTA:G	acceptor_gain	0.9900
8:12185544:GTTA:G	acceptor_gain	0.9900
8:12185545:TTA:T	acceptor_gain	0.9900
8:12186351:CCTG:C	donor_gain	0.9900
8:12186615:GTCC:G	acceptor_loss	0.9900
8:12186616:TCC:T	acceptor_loss	0.9900
8:12186618:C:CC	acceptor_gain	0.9900
8:12186618:CTG:C	acceptor_loss	0.9900
8:12186619:T:C	acceptor_loss	0.9900
8:12186834:C:CC	acceptor_gain	0.9900
8:12186840:C:CT	acceptor_gain	0.9900
8:12188168:CTCG:C	acceptor_gain	0.9900
8:12188169:TCGT:T	acceptor_gain	0.9900
8:12188169:TCGTG:T	acceptor_gain	0.9900
8:12188170:CGTGC:C	acceptor_gain	0.9900

AlphaMissense

1898 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:12194011:G:C	F20L	0.853
8:12194011:G:T	F20L	0.853
8:12194013:A:G	F20L	0.853
8:12194023:A:C	F16L	0.805
8:12194023:A:T	F16L	0.805
8:12194025:A:G	F16L	0.805
8:12186708:G:C	F156L	0.793
8:12186708:G:T	F156L	0.793
8:12186710:A:G	F156L	0.793
8:12189829:A:C	F73L	0.784
8:12189829:A:T	F73L	0.784
8:12189831:A:G	F73L	0.784
8:12185422:A:C	F282L	0.778
8:12185422:A:T	F282L	0.778
8:12185424:A:G	F282L	0.778
8:12186536:G:C	F186L	0.764
8:12186536:G:T	F186L	0.764
8:12186538:A:G	F186L	0.764
8:12185389:G:C	F293L	0.745
8:12185389:G:T	F293L	0.745
8:12185391:A:G	F293L	0.745
8:12193984:G:C	F29L	0.669
8:12193984:G:T	F29L	0.669
8:12193986:A:G	F29L	0.669
8:12186596:A:C	S166R	0.617
8:12186596:A:T	S166R	0.617
8:12186598:T:G	S166R	0.617
8:12186533:G:C	S187R	0.609
8:12186533:G:T	S187R	0.609
8:12186535:T:G	S187R	0.609

dbSNP variants (sampled 300 via entrez): RS1002033453 (8:12182945 G>C), RS1002446503 (8:12185082 C>G,T), RS1003063594 (8:12193444 G>GT), RS1003422476 (8:12191778 C>G,T), RS1006664094 (8:12187922 G>A,C), RS1006960338 (8:12189755 C>A), RS1010739092 (8:12186445 C>A,G,T), RS1010853887 (8:12185327 C>A,T), RS1011590412 (8:12191988 G>A,T), RS1011743327 (8:12196623 A>G), RS1011859674 (8:12193624 G>A), RS1014321486 (8:12182793 C>A,G,T), RS1016691050 (8:12189929 C>T), RS1020663284 (8:12183626 T>C), RS1021665911 (8:12192391 C>A,T)

Disease associations

OMIM: gene MIM:616122 | 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

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
Estradiol	affects expression, increases expression	2
Smoke	increases expression, decreases expression, increases abundance	2
Tretinoin	decreases expression	2
2-amino-9H-pyrido(2,3-b)indole	increases expression	1
ferrous chloride	decreases expression	1
cylindrospermopsin	increases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Copper	affects binding, decreases expression	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Silicon Dioxide	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases expression	1
Aflatoxin M1	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1
Magnetite Nanoparticles	increases expression	1

Clinical trials (associated diseases)

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