FAM216A

Summary

FAM216A (family with sequence similarity 216 member A, HGNC:30180) is a protein-coding gene on chromosome 12q24.11, encoding Protein FAM216A (Q8WUB2).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_013300

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30180
Approved symbol	FAM216A
Name	family with sequence similarity 216 member A
Location	12q24.11
Locus type	gene with protein product
Status	Approved
Aliases	HSU79274
Ensembl gene	ENSG00000204856
Ensembl biotype	protein_coding
Entrez	29902

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000377673, ENST00000538285, ENST00000546396, ENST00000547539, ENST00000548449, ENST00000548869, ENST00000896505, ENST00000896506, ENST00000896507, ENST00000919019, ENST00000919020, ENST00000919021, ENST00000919022

RefSeq mRNA: 1 — MANE Select: NM_013300 NM_013300

CCDS: CCDS31899

Canonical transcript exons

ENST00000377673 — 7 exons

Exon	Start	End
ENSE00001474815	110468845	110469018
ENSE00003459833	110485078	110485199
ENSE00003514548	110473078	110473118
ENSE00003553453	110486534	110486717
ENSE00003568139	110490019	110490385
ENSE00003571489	110487861	110487943
ENSE00003639607	110486325	110486454

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 94.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.3964 / max 241.8988, expressed in 1743 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127996	17.6761	1687
127991	2.6319	1190
127995	1.0398	488
127992	0.7963	387
127994	0.1785	80
127993	0.0736	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	94.64	gold quality
right testis	UBERON:0004534	94.22	gold quality
testis	UBERON:0000473	92.87	gold quality
cerebellar hemisphere	UBERON:0002245	92.74	gold quality
cerebellar cortex	UBERON:0002129	92.63	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.50	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.32	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.56	gold quality
prefrontal cortex	UBERON:0000451	91.36	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.31	gold quality
right frontal lobe	UBERON:0002810	91.26	gold quality
cerebellum	UBERON:0002037	91.23	gold quality
adult organism	UBERON:0007023	91.21	gold quality
hypothalamus	UBERON:0001898	90.14	gold quality
cortical plate	UBERON:0005343	89.98	gold quality
nucleus accumbens	UBERON:0001882	89.36	gold quality
pons	UBERON:0000988	89.31	gold quality
caudate nucleus	UBERON:0001873	88.85	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.71	gold quality
cingulate cortex	UBERON:0003027	88.66	gold quality
frontal cortex	UBERON:0001870	88.64	gold quality
neocortex	UBERON:0001950	88.58	gold quality
anterior cingulate cortex	UBERON:0009835	88.36	gold quality
putamen	UBERON:0001874	88.32	gold quality
cerebral cortex	UBERON:0000956	88.30	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.03	gold quality
telencephalon	UBERON:0001893	88.02	gold quality
sperm	CL:0000019	87.92	gold quality
male germ cell	CL:0000015	87.73	gold quality
brain	UBERON:0000955	87.70	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.06
E-ENAD-17	no	148.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting FAM216A, 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-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-5585-5P	97.95	68.80	1024
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-6782-3P	97.60	67.75	931
HSA-MIR-564	95.85	65.01	163

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam216a	ENSMUSG00000029463
rattus_norvegicus	Fam216a	ENSRNOG00000031731

Paralogs (1): FAM216B (ENSG00000179813)

Protein

Protein identifiers

Protein FAM216A — Q8WUB2 (reviewed: Q8WUB2)

All UniProt accessions (2): F8VXY8, Q8WUB2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM216 family.

RefSeq proteins (1): NP_037432* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029373	FAM216	Family

Pfam: PF15107

UniProt features (4 total): chain 1, region of interest 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUB2-F1	55.38	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 165 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, E2F_Q4_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, YOKOE_CANCER_TESTIS_ANTIGENS, ONKEN_UVEAL_MELANOMA_UP, E2F_Q3, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, SCHLOSSER_MYC_TARGETS_AND_SERUM_RESPONSE_UP, E2F1_Q3

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

420 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM216A	GPN3	Q9UHW5	596
FAM216A	ANAPC7	Q9UJX3	499
FAM216A	CCDC34	Q96HJ3	497
FAM216A	LAGE3	Q14657	497
FAM216A	PPTC7	Q8NI37	466
FAM216A	CCDC106	Q9BWC9	443
FAM216A	ZNF862	O60290	427
FAM216A	CCDC63	Q8NA47	425
FAM216A	FAM216B	Q8N7L0	418
FAM216A	ARPC3	O15145	410
FAM216A	TMEM260	Q9NX78	400
FAM216A	RAD9B	Q6WBX8	390
FAM216A	TCTN1	Q2MV58	387
FAM216A	LY6D	Q14210	374
FAM216A	PET117	Q6UWS5	370

IntAct

13 interactions, top by confidence:

A	B	Type	Score
MAGEA10	POTEF	psi-mi:“MI:0914”(association)	0.530
FAM216A	TTC5	psi-mi:“MI:0915”(physical association)	0.400
FAM216A	E6	psi-mi:“MI:0915”(physical association)	0.370
MAGEA10	XPO1	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
S100P	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
TMEM74	KLRG2	psi-mi:“MI:0914”(association)	0.350
PRPS2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
HMGN1	H2AX	psi-mi:“MI:0914”(association)	0.350
MAGEA10	KANSL1L	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), FAM216A (Affinity Capture-MS), TTC5 (Affinity Capture-MS), FAM216A (Two-hybrid), FAM216A (Proximity Label-MS), FAM216A (Affinity Capture-RNA)

ESM2 similar proteins: A0A1L8I316, A0A286YDK6, A2A8T7, A5WWA0, A6H7B4, A6NFA0, A6NFR6, A6NGY1, A6NKB5, A6QP24, A8MX80, B2RQL2, O93343, P0C6A0, Q0VD86, Q1EHW4, Q1RN00, Q2HR82, Q32LI3, Q32LN6, Q3B8N5, Q49AJ0, Q5BMD4, Q5DU28, Q5NCP0, Q5SSZ7, Q64ET8, Q66H53, Q68DV7, Q68US1, Q6P4J6, Q6PE65, Q6PG16, Q7SYV9, Q80U22, Q80VY2, Q80W69, Q8BII1, Q8K2F3, Q8N2Y8

Diamond homologs: Q3SZW6, Q5U1Y9, Q8WUB2, Q9DB54

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1122 predictions. Top by Δscore:

Variant	Effect	Δscore
12:110486324:GC:G	acceptor_gain	1.0000
12:110487858:TAGG:T	acceptor_loss	1.0000
12:110487859:A:AG	acceptor_gain	1.0000
12:110487859:AG:A	acceptor_gain	1.0000
12:110487860:G:GG	acceptor_gain	1.0000
12:110487860:GG:G	acceptor_gain	1.0000
12:110487942:AGGTA:A	donor_loss	1.0000
12:110487943:GGTAA:G	donor_loss	1.0000
12:110487944:G:GC	donor_loss	1.0000
12:110487945:T:A	donor_loss	1.0000
12:110489126:G:GT	donor_gain	1.0000
12:110490017:A:AG	acceptor_gain	1.0000
12:110490018:G:GA	acceptor_gain	1.0000
12:110490018:GT:G	acceptor_gain	1.0000
12:110490018:GTTT:G	acceptor_gain	1.0000
12:110492118:TGTTT:T	acceptor_gain	1.0000
12:110492119:GTTT:G	acceptor_gain	1.0000
12:110492120:TTT:T	acceptor_gain	1.0000
12:110492121:TT:T	acceptor_gain	1.0000
12:110492122:TCTAG:T	acceptor_loss	1.0000
12:110492123:C:CC	acceptor_gain	1.0000
12:110492123:CTAGA:C	acceptor_loss	1.0000
12:110492124:T:A	acceptor_loss	1.0000
12:110473076:A:AG	acceptor_gain	0.9900
12:110473077:G:GG	acceptor_gain	0.9900
12:110486323:A:AG	acceptor_gain	0.9900
12:110486324:G:GG	acceptor_gain	0.9900
12:110486701:G:GG	donor_gain	0.9900
12:110486713:GAAGG:G	donor_gain	0.9900
12:110487860:GGAT:G	acceptor_gain	0.9900

AlphaMissense

1782 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:110486364:A:C	S116R	0.941
12:110486366:C:A	S116R	0.941
12:110486366:C:G	S116R	0.941
12:110486359:T:C	L114P	0.937
12:110486335:T:C	L106P	0.936
12:110486607:G:C	W170C	0.927
12:110486607:G:T	W170C	0.927
12:110486605:T:A	W170R	0.919
12:110486605:T:C	W170R	0.919
12:110486348:G:C	Q110H	0.911
12:110486348:G:T	Q110H	0.911
12:110486370:G:C	A118P	0.905
12:110486355:T:G	Y113D	0.887
12:110487897:G:C	K219N	0.887
12:110487897:G:T	K219N	0.887
12:110486359:T:A	L114Q	0.883
12:110486395:T:C	L126P	0.876
12:110486383:A:T	N122I	0.867
12:110486351:G:C	K111N	0.861
12:110486351:G:T	K111N	0.861
12:110486347:A:C	Q110P	0.851
12:110487910:T:C	F224L	0.851
12:110487912:T:A	F224L	0.851
12:110487912:T:G	F224L	0.851
12:110486338:C:T	T107I	0.848
12:110490089:G:A	M258I	0.847
12:110490089:G:C	M258I	0.847
12:110490089:G:T	M258I	0.847
12:110486418:T:G	Y134D	0.846
12:110486359:T:G	L114R	0.844

dbSNP variants (sampled 300 via entrez): RS1000053240 (12:110484620 A>G), RS1000234468 (12:110467687 C>G,T), RS1000313952 (12:110478503 C>G,T), RS1000350321 (12:110467906 GGTT>G), RS1000513795 (12:110489501 T>A,G), RS1000573927 (12:110490765 C>T), RS1000951630 (12:110472366 A>G), RS1000991767 (12:110472135 G>A), RS1001151646 (12:110479851 A>C), RS1001752552 (12:110490493 G>A), RS1001885214 (12:110487137 A>T), RS1002212277 (12:110467270 G>A), RS1002263541 (12:110471814 A>C), RS1002280900 (12:110480183 C>T), RS1002340659 (12:110473173 C>G)

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
GCST008103_92	Bipolar disorder	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression	4
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression, increases expression	3
Tetrachlorodibenzodioxin	affects expression, increases expression	3
Cyclosporine	decreases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Smoke	increases abundance, increases expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	decreases expression	2
TAK-243	increases sumoylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
quercitrin	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Coumestrol	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0U6	Ubigene Hep G2 FAM216A KO	Cancer cell line	Male
CVCL_E0VL	Ubigene Huh-7 FAM216A KO	Cancer cell line	Male

Clinical trials (associated diseases)

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