FAM217B

Summary

FAM217B (family with sequence similarity 217 member B, HGNC:16170) is a protein-coding gene on chromosome 20q13.33, encoding Protein FAM217B (Q9NTX9).

Located in cytosol and nucleoplasm.

Source: NCBI Gene 63939 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 131 total
• MANE Select transcript: NM_022106

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16170
Approved symbol	FAM217B
Name	family with sequence similarity 217 member B
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Aliases	dJ551D2.5
Ensembl gene	ENSG00000196227
Ensembl biotype	protein_coding
Entrez	63939

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000358293, ENST00000360816, ENST00000421092, ENST00000469084, ENST00000890684, ENST00000890685, ENST00000890686, ENST00000890687, ENST00000890688, ENST00000890689, ENST00000935326

RefSeq mRNA: 3 — MANE Select: NM_022106 NM_001190826, NM_001190827, NM_022106

CCDS: CCDS13484

Canonical transcript exons

ENST00000360816 — 4 exons

Exon	Start	End
ENSE00001333857	59942427	59942512
ENSE00001333858	59942198	59942309
ENSE00001454081	59943940	59948680
ENSE00001886004	59940389	59940535

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 95.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.7599 / max 151.5302, expressed in 1748 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185649	17.1449	1745
185648	0.4694	270
185647	0.1457	92

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	95.77	gold quality
middle temporal gyrus	UBERON:0002771	94.92	gold quality
postcentral gyrus	UBERON:0002581	94.53	gold quality
parietal lobe	UBERON:0001872	94.03	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.89	gold quality
superior frontal gyrus	UBERON:0002661	93.65	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.47	gold quality
cerebellar vermis	UBERON:0004720	92.64	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.36	gold quality
vastus lateralis	UBERON:0001379	92.25	gold quality
quadriceps femoris	UBERON:0001377	91.92	gold quality
occipital lobe	UBERON:0002021	91.68	gold quality
entorhinal cortex	UBERON:0002728	91.55	gold quality
left ventricle myocardium	UBERON:0006566	91.48	gold quality
primary visual cortex	UBERON:0002436	90.98	gold quality
substantia nigra pars compacta	UBERON:0001965	90.81	gold quality
deltoid	UBERON:0001476	90.68	gold quality
biceps brachii	UBERON:0001507	90.63	gold quality
pons	UBERON:0000988	90.52	gold quality
cortical plate	UBERON:0005343	89.41	gold quality
substantia nigra pars reticulata	UBERON:0001966	89.12	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.78	gold quality
prefrontal cortex	UBERON:0000451	88.63	gold quality
superior vestibular nucleus	UBERON:0007227	88.50	gold quality
frontal cortex	UBERON:0001870	88.35	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.11	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.87	gold quality
neocortex	UBERON:0001950	87.82	gold quality
cerebral cortex	UBERON:0000956	87.81	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	87.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

132 targeting FAM217B, 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-5692A	100.00	74.40	6850
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-548AP-5P	99.94	71.14	3489

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam217ba	ENSDARG00000088505
danio_rerio	fam217bb	ENSDARG00000091799
mus_musculus	Fam217b	ENSMUSG00000070476
rattus_norvegicus	Fam217b	ENSRNOG00000053607

Paralogs (1): FAM217A (ENSG00000145975)

Protein

Protein identifiers

Protein FAM217B — Q9NTX9 (reviewed: Q9NTX9)

All UniProt accessions (2): A2A2M7, Q9NTX9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM217 family.

RefSeq proteins (3): NP_001177755, NP_001177756, NP_071389* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029266	FAM217	Family

Pfam: PF15344

UniProt features (14 total): region of interest 6, compositionally biased region 3, sequence variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NTX9-F1	57.78	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, CAGCTG_AP4_Q5, TTGCWCAAY_CEBPB_02, CEBPB_01, MODULE_205, TGIF_01, ATTCTTT_MIR186, GATA4_Q3, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, CGTSACG_PAX3_B, NIKOLSKY_MUTATED_AND_AMPLIFIED_IN_BREAST_CANCER, NIKOLSKY_BREAST_CANCER_20Q12_Q13_AMPLICON, CEBPB_02, AR_Q6, GABRIELY_MIR21_TARGETS

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleoplasm (GO:0005654), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
binding	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

240 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM217B	KIAA1614	Q5VZ46	693
FAM217B	ASB8	Q9H765	542
FAM217B	LRRC28	Q86X40	501
FAM217B	IFT46	Q9NQC8	481
FAM217B	RIBC2	Q9H4K1	475
FAM217B	PPP1R3D	O95685	448
FAM217B	AKAP1	Q92667	421
FAM217B	SYCP2	Q9BX26	419
FAM217B	MANEA	Q5SRI9	378
FAM217B	OCEL1	Q9H607	373
FAM217B	SHISAL1	Q3SXP7	370
FAM217B	B3GALT6	Q96L58	370
FAM217B	SLC33A2	Q96ES6	348
FAM217B	WRAP73	Q9P2S5	343
FAM217B	ADCY5	O95622	323

IntAct

64 interactions, top by confidence:

A	B	Type	Score
EXOC8	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
CDCA7L	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
ANKS1A	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
C2CD6	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
BANP	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
ZBTB16	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
CCDC102B	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
HMBOX1	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
FAM217B	MAD2L2	psi-mi:“MI:0915”(physical association)	0.560
POLR2L	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
SUOX	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
TTC19	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
TCEANC	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
FAM217B	AIRIM	psi-mi:“MI:0915”(physical association)	0.560
L3MBTL2	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
ANP32B	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
MYLIP	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
SMARCE1	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
SPANXN3	FAM217B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (60): CD209 (Affinity Capture-MS), ICK (Affinity Capture-MS), BLK (Affinity Capture-MS), NCK1 (Affinity Capture-MS), NCK2 (Affinity Capture-MS), RAB11B (Affinity Capture-MS), CALR3 (Affinity Capture-MS), NEU2 (Affinity Capture-MS), DUSP6 (Affinity Capture-MS), RAB11FIP1 (Affinity Capture-MS), NEU2 (Affinity Capture-MS), CD209 (Affinity Capture-MS), CALR3 (Affinity Capture-MS), NCK2 (Affinity Capture-MS), DUSP6 (Affinity Capture-MS)

ESM2 similar proteins: A0A096MK47, A0JNH1, A6H5Y1, A6NCI8, A6NFA0, A6NGG8, B2RQL2, D3Z1D3, D3ZMK9, E9Q286, E9Q309, M0RD54, O14513, P51816, Q01613, Q03172, Q05860, Q2M2Z5, Q32LN6, Q3MHH3, Q3UXL4, Q3V0A6, Q569L8, Q571I4, Q5DTX6, Q5FW52, Q5HYW2, Q5R9I1, Q5VT06, Q5VWP3, Q60988, Q66HG9, Q68DA7, Q6P1W5, Q6P9P0, Q6PAC4, Q6PG16, Q711Q0, Q7TP36, Q7TSA6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	120
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

917 predictions. Top by Δscore:

Variant	Effect	Δscore
20:59942194:CTAGT:C	acceptor_loss	1.0000
20:59942195:TAGT:T	acceptor_loss	1.0000
20:59942196:A:AC	acceptor_loss	1.0000
20:59942196:A:AG	acceptor_gain	1.0000
20:59942197:G:GT	acceptor_gain	1.0000
20:59942197:GT:G	acceptor_gain	1.0000
20:59942197:GTT:G	acceptor_gain	1.0000
20:59942197:GTTC:G	acceptor_gain	1.0000
20:59942197:GTTCC:G	acceptor_gain	1.0000
20:59942306:A:T	donor_gain	1.0000
20:59942422:TTTAG:T	acceptor_loss	1.0000
20:59942423:TTA:T	acceptor_loss	1.0000
20:59942425:A:AG	acceptor_gain	1.0000
20:59942426:G:GT	acceptor_gain	1.0000
20:59942426:GA:G	acceptor_gain	1.0000
20:59942426:GAC:G	acceptor_gain	1.0000
20:59942426:GACA:G	acceptor_gain	1.0000
20:59942509:GCAG:G	donor_gain	1.0000
20:59942511:AG:A	donor_loss	1.0000
20:59942512:GGTAA:G	donor_loss	1.0000
20:59942513:GTA:G	donor_loss	1.0000
20:59942514:T:G	donor_loss	1.0000
20:59944480:G:GT	donor_gain	1.0000
20:59944480:G:T	donor_gain	1.0000
20:59933999:G:GT	donor_gain	0.9900
20:59942189:T:TA	acceptor_gain	0.9900
20:59942305:GAAAG:G	donor_gain	0.9900
20:59942310:G:GG	donor_gain	0.9900
20:59942418:T:TA	acceptor_gain	0.9900
20:59942430:G:GA	acceptor_gain	0.9800

AlphaMissense

2495 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:59944226:A:C	S95R	0.989
20:59944228:T:A	S95R	0.989
20:59944228:T:G	S95R	0.989
20:59944497:T:C	L185P	0.981
20:59944376:T:C	F145L	0.980
20:59944378:C:A	F145L	0.980
20:59944378:C:G	F145L	0.980
20:59944506:T:C	L188P	0.980
20:59944515:T:C	L191P	0.978
20:59944400:T:A	W153R	0.974
20:59944400:T:C	W153R	0.974
20:59944293:T:C	L117P	0.971
20:59944377:T:C	F145S	0.963
20:59944287:T:C	L115P	0.961
20:59944231:T:A	D96E	0.960
20:59944231:T:G	D96E	0.960
20:59944380:T:A	L146H	0.960
20:59944380:T:G	L146R	0.960
20:59944230:A:G	D96G	0.958
20:59944497:T:A	L185H	0.958
20:59944509:A:T	E189V	0.958
20:59944236:C:T	S98F	0.956
20:59944249:A:C	R102S	0.956
20:59944249:A:T	R102S	0.956
20:59944293:T:A	L117H	0.956
20:59944245:A:T	E101V	0.955
20:59944230:A:C	D96A	0.952
20:59944296:G:C	R118P	0.951
20:59944230:A:T	D96V	0.947
20:59944236:C:A	S98Y	0.947

dbSNP variants (sampled 300 via entrez): RS1000034704 (20:59936647 A>G), RS1000085208 (20:59936479 G>A), RS1000248144 (20:59933179 G>A), RS1000296092 (20:59933296 C>T), RS1000333416 (20:59943645 G>A), RS1000471616 (20:59938574 T>G), RS1000892571 (20:59941985 C>G), RS1000945651 (20:59941401 A>G), RS1000946289 (20:59942315 G>T), RS1001238542 (20:59947967 G>A,T), RS1001489495 (20:59935251 A>G,T), RS1001709804 (20:59938281 T>C), RS1001866237 (20:59932863 G>A), RS1002037502 (20:59944237 T>C), RS1002058750 (20:59945412 T>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

1 associations (top):

Study	Trait	p-value
GCST005851_8	Delirium	5.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
Tobacco Smoke Pollution	affects expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	decreases expression	1
2-butenal	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
pentanal	decreases expression	1
avobenzone	increases expression	1
scriptaid	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Antimycin A	increases expression	1
Cannabidiol	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Phthalic Acids	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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