FAM216B

Summary

FAM216B (family with sequence similarity 216 member B, HGNC:26883) is a protein-coding gene on chromosome 13q14.11, encoding Protein FAM216B (Q8N7L0).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_001318932

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26883
Approved symbol	FAM216B
Name	family with sequence similarity 216 member B
Location	13q14.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ40919
Ensembl gene	ENSG00000179813
Ensembl biotype	protein_coding
Entrez	144809

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000313851, ENST00000537894

RefSeq mRNA: 2 — MANE Select: NM_001318932 NM_001318932, NM_182508

CCDS: CCDS9386

Canonical transcript exons

ENST00000313851 — 4 exons

Exon	Start	End
ENSE00001271628	42786763	42786883
ENSE00001271636	42781584	42781664
ENSE00001271655	42784054	42784166
ENSE00003753164	42788591	42791549

Expression profiles

Bgee: expression breadth broad, 86 present calls, max score 98.89.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7965 / max 317.3730, expressed in 99 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134888	0.4041	69
134887	0.2666	70
134886	0.1258	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.89	gold quality
bronchus	UBERON:0002185	97.51	gold quality
right uterine tube	UBERON:0001302	97.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.05	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.09	gold quality
epithelium of nasopharynx	UBERON:0001951	88.14	gold quality
nasopharynx	UBERON:0001728	88.12	gold quality
oviduct epithelium	UBERON:0004804	84.74	gold quality
fallopian tube	UBERON:0003889	83.48	gold quality
right atrium auricular region	UBERON:0006631	77.58	gold quality
cardiac atrium	UBERON:0002081	77.25	gold quality
right lung	UBERON:0002167	75.30	gold quality
caput epididymis	UBERON:0004358	73.96	gold quality
nasal cavity mucosa	UBERON:0001826	73.30	gold quality
nasal cavity epithelium	UBERON:0005384	72.01	gold quality
trachea	UBERON:0003126	67.90	gold quality
endometrium	UBERON:0001295	67.47	gold quality
lymph node	UBERON:0000029	63.54	gold quality
left uterine tube	UBERON:0001303	61.72	gold quality
vermiform appendix	UBERON:0001154	60.78	gold quality
lung	UBERON:0002048	59.82	gold quality
lower lobe of lung	UBERON:0008949	57.35	silver quality
caecum	UBERON:0001153	56.27	gold quality
heart	UBERON:0000948	55.17	gold quality
rectum	UBERON:0001052	53.75	gold quality
upper lobe of lung	UBERON:0008948	53.25	gold quality
upper lobe of left lung	UBERON:0008952	53.05	gold quality
corpus callosum	UBERON:0002336	52.12	gold quality
cerebellar vermis	UBERON:0004720	51.65	gold quality
tonsil	UBERON:0002372	51.20	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	62.34
E-MTAB-10287	yes	26.65
E-HCAD-1	yes	25.75
E-GEOD-130148	yes	12.09
E-ANND-3	yes	11.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting FAM216B, 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-8485	100.00	77.57	4731
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-448	99.79	72.37	2103

Literature-anchored findings (GeneRIF, showing 1)

• Meta-analysis of Transcriptomic Data from Lung Autopsy and Cellular Models of SARS-CoV-2 Infection. (PMID:37486510)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam216b	ENSMUSG00000045655
rattus_norvegicus	Fam216b	ENSRNOG00000021943

Paralogs (1): FAM216A (ENSG00000204856)

Protein

Protein identifiers

Protein FAM216B — Q8N7L0 (reviewed: Q8N7L0)

All UniProt accessions (1): Q8N7L0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM216 family.

RefSeq proteins (2): NP_001305861, NP_872314 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029373	FAM216	Family

Pfam: PF15107

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7L0-F1	77.16	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 55 (showing top): AAAYRNCTG_UNKNOWN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, chr13q14, SPZ1_01, DODD_NASOPHARYNGEAL_CARCINOMA_DN, ZNF486_TARGET_GENES, MIR8485, MIR3662, MIR4795_3P, MIR95_5P, MIR7159_5P, MIR448, MIR4762_3P, MIR580_5P, MIR670_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM216B	LINC03043	A4D0Y5	584
FAM216B	ANKUB1	A6NFN9	536
FAM216B	TSPAN19	P0C672	514
FAM216B	LRRC71	Q8N4P6	490
FAM216B	DNAJC15	Q9Y5T4	478
FAM216B	ANKRD66	B4E2M5	469
FAM216B	MORN5	Q5VZ52	461
FAM216B	OVCH1	Q7RTY7	449
FAM216B	DYNLT5	Q8N7M0	430
FAM216B	AKAP11	Q9UKA4	419
FAM216B	FAM216A	Q8WUB2	418
FAM216B	TMEM212	A6NML5	414
FAM216B	HOXA3	O43365	411
FAM216B	ST8SIA6	P61647	402
FAM216B	SNTN	A6NMZ2	395

IntAct

0 interactions, top by confidence:

BioGRID (1): FAM216B (Synthetic Lethality)

ESM2 similar proteins: A1JU78, A3KMU5, B3DZB3, B3LT59, B3WDM3, B8Y7Y5, C5DFL1, C7GQR4, C8ZD61, C9JBD0, O20173, O34800, O74416, O83451, O97179, P03045, P08346, P0C2N4, P10185, P10260, P10302, P19810, P30637, P34743, P35940, P36353, P39607, P42430, P61416, Q03A13, Q06616, Q0P641, Q11109, Q12393, Q24475, Q25330, Q29S20, Q573E2, Q5NLF0, Q75EY3

Diamond homologs: Q17QP0, Q8CC14, Q8N7L0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

234 predictions. Top by Δscore:

Variant	Effect	Δscore
13:42786758:A:AG	acceptor_gain	1.0000
13:42786758:AACAG:A	acceptor_gain	1.0000
13:42786761:A:AG	acceptor_gain	1.0000
13:42786761:AG:A	acceptor_gain	1.0000
13:42786762:G:GG	acceptor_gain	1.0000
13:42786762:GG:G	acceptor_gain	1.0000
13:42786762:GGC:G	acceptor_gain	1.0000
13:42786762:GGCC:G	acceptor_gain	1.0000
13:42786762:GGCCC:G	acceptor_gain	1.0000
13:42786879:GCTTG:G	donor_gain	1.0000
13:42786880:CTTG:C	donor_gain	1.0000
13:42786881:TTG:T	donor_gain	1.0000
13:42786882:TG:T	donor_gain	1.0000
13:42786883:GG:G	donor_gain	1.0000
13:42786884:G:GA	donor_loss	1.0000
13:42786884:G:GG	donor_gain	1.0000
13:42786885:TAAG:T	donor_loss	1.0000
13:42788590:GGCT:G	acceptor_gain	1.0000
13:42781663:GG:G	donor_gain	0.9900
13:42781664:GG:G	donor_gain	0.9900
13:42784049:T:A	acceptor_gain	0.9900
13:42786752:T:TA	acceptor_gain	0.9900
13:42786759:A:G	acceptor_gain	0.9900
13:42788585:CCCTA:C	acceptor_loss	0.9900
13:42788586:CCTA:C	acceptor_loss	0.9900
13:42788588:TAGGC:T	acceptor_loss	0.9900
13:42788589:A:AG	acceptor_gain	0.9900
13:42788590:G:GG	acceptor_gain	0.9900
13:42781661:TAGGG:T	donor_loss	0.9800
13:42781662:AGGGT:A	donor_loss	0.9800

AlphaMissense

884 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:42786796:A:C	S45R	0.919
13:42786798:C:A	S45R	0.919
13:42786798:C:G	S45R	0.919
13:42786780:A:C	Q39H	0.887
13:42786780:A:T	Q39H	0.887
13:42786831:G:C	W56C	0.806
13:42786831:G:T	W56C	0.806
13:42788591:G:T	G74V	0.791
13:42786863:T:C	L67P	0.790
13:42788611:G:C	A81P	0.768
13:42786775:G:T	G38W	0.753
13:42786804:G:A	M47I	0.753
13:42786804:G:C	M47I	0.753
13:42786804:G:T	M47I	0.753
13:42786839:T:C	L59P	0.739
13:42786775:G:A	G38R	0.734
13:42786775:G:C	G38R	0.734
13:42788600:C:T	T77I	0.726
13:42788597:T:G	I76S	0.721
13:42786779:A:T	Q39L	0.718
13:42786811:T:G	Y50D	0.709
13:42786883:G:C	G74R	0.709
13:42786835:G:C	A58P	0.708
13:42786767:T:A	L35H	0.702
13:42788609:A:T	E80V	0.701
13:42786797:G:T	S45I	0.691
13:42786848:G:C	R62P	0.688
13:42786779:A:C	Q39P	0.686
13:42786850:T:G	Y63D	0.673
13:42786863:T:A	L67H	0.673

dbSNP variants (sampled 300 via entrez): RS1000265988 (13:42785775 AT>A,ATT), RS1000439110 (13:42792034 T>TGTGC), RS1000581931 (13:42779985 T>A), RS1000608217 (13:42786451 T>C), RS1000615988 (13:42780653 C>A), RS1001784220 (13:42786065 T>C), RS1001877905 (13:42788210 A>G), RS1002118042 (13:42787402 T>C,G), RS1002354852 (13:42781062 G>T), RS1002483478 (13:42791674 T>A), RS1002513124 (13:42791426 A>G), RS1003052035 (13:42784614 G>A), RS1003076079 (13:42784244 C>A,T), RS1003573949 (13:42783164 T>C), RS1003955774 (13:42789859 G>C)

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

2 associations (top):

Study	Trait	p-value
GCST006016_24	Serum alkaline phosphatase levels	4.000000e-21
GCST009442_4	Age-related cognitive decline (executive function) (slope of z-scores)	4.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement
EFO:0007710	cognitive decline measurement

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.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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