FAM217A

Summary

FAM217A (family with sequence similarity 217 member A, HGNC:21362) is a protein-coding gene on chromosome 6p25.2, encoding Protein FAM217A (Q8IXS0).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_173563

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21362
Approved symbol	FAM217A
Name	family with sequence similarity 217 member A
Location	6p25.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC43581
Ensembl gene	ENSG00000145975
Ensembl biotype	protein_coding
Entrez	222826

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000274673, ENST00000380188, ENST00000463904, ENST00000469157, ENST00000478714, ENST00000492651, ENST00000498677, ENST00000639338

RefSeq mRNA: 1 — MANE Select: NM_173563 NM_173563

CCDS: CCDS4489

Canonical transcript exons

ENST00000274673 — 7 exons

Exon	Start	End
ENSE00001936540	4068367	4069920
ENSE00003481769	4073433	4073507
ENSE00003498907	4074577	4074661
ENSE00003513438	4077355	4077448
ENSE00003557730	4074443	4074456
ENSE00003575449	4073275	4073342
ENSE00003895242	4078852	4079137

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 99.37.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0107 / max 8.5706, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
71508	0.0107	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.37	gold quality
right testis	UBERON:0004534	86.77	gold quality
left testis	UBERON:0004533	86.59	gold quality
testis	UBERON:0000473	84.09	gold quality
buccal mucosa cell	CL:0002336	83.91	gold quality
calcaneal tendon	UBERON:0003701	81.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.10	gold quality
rectum	UBERON:0001052	78.22	gold quality
adrenal tissue	UBERON:0018303	74.87	gold quality
mucosa of stomach	UBERON:0001199	73.39	gold quality
body of pancreas	UBERON:0001150	72.91	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.77	gold quality
tibialis anterior	UBERON:0001385	71.89	silver quality
left adrenal gland cortex	UBERON:0035825	71.15	gold quality
monocyte	CL:0000576	70.80	gold quality
pancreatic ductal cell	CL:0002079	70.70	silver quality
right ovary	UBERON:0002118	70.65	gold quality
body of stomach	UBERON:0001161	70.28	gold quality
skin of leg	UBERON:0001511	70.25	gold quality
left adrenal gland	UBERON:0001234	70.24	gold quality
smooth muscle tissue	UBERON:0001135	70.20	gold quality
body of uterus	UBERON:0009853	70.17	gold quality
right adrenal gland cortex	UBERON:0035827	70.03	gold quality
minor salivary gland	UBERON:0001830	69.91	gold quality
right lung	UBERON:0002167	69.58	gold quality
left ovary	UBERON:0002119	68.89	gold quality
adrenal cortex	UBERON:0001235	68.78	gold quality
corpus callosum	UBERON:0002336	68.77	gold quality
small intestine Peyer’s patch	UBERON:0003454	68.73	gold quality
transverse colon	UBERON:0001157	68.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting FAM217A, 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-3134	100.00	66.43	777
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-10395-5P	99.86	67.35	676
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-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-6512-5P	98.76	69.29	1195
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-124-5P	98.11	67.65	1095
HSA-MIR-4665-5P	97.91	67.69	1536

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam217ba	ENSDARG00000088505
danio_rerio	fam217bb	ENSDARG00000091799
mus_musculus	Fam217a	ENSMUSG00000021414
rattus_norvegicus	Fam217a	ENSRNOG00000016672

Paralogs (1): FAM217B (ENSG00000196227)

Protein

Protein identifiers

Protein FAM217A — Q8IXS0 (reviewed: Q8IXS0)

All UniProt accessions (4): A0A1W2PRP4, C9J5H0, C9J6U0, Q8IXS0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM217 family.

RefSeq proteins (1): NP_775834* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029266	FAM217	Family

Pfam: PF15344

UniProt features (6 total): sequence variant 5, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IXS0-F1	50.26	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 30 (showing top): DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, chr6p25, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_B, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, SFMBT1_TARGET_GENES, MIR548F_5P, MIR548AJ_5P_MIR548G_5P_MIR548X_5P, MIR181B_2_3P_MIR181B_3P, MIR4420, MIR6505_5P, MIR4534

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM217A	OR6M1	Q8NGM8	581
FAM217A	OR8H3	Q8N146	571
FAM217A	RSPH10B2	B2RC85	543
FAM217A	MROH9	Q5TGP6	512
FAM217A	OR9G1	Q8NH87	507
FAM217A	RSPH10B	P0C881	505
FAM217A	CCDC81	Q6ZN84	479
FAM217A	TMPRSS12	Q86WS5	478
FAM217A	MFSD6L	Q8IWD5	478
FAM217A	KRTCAP3	Q53RY4	435
FAM217A	ESPNL	Q6ZVH7	431
FAM217A	PCDHGA6	Q9Y5G7	419
FAM217A	GPR62	Q9BZJ7	418
FAM217A	SIAH3	Q8IW03	396
FAM217A	SPACA1	Q9HBV2	370
FAM217A	LCE3A	Q5TA76	370

IntAct

6 interactions, top by confidence:

A	B	Type	Score
FAM217A	TEX11	psi-mi:“MI:0915”(physical association)	0.560
FAM217A	CLNK	psi-mi:“MI:0915”(physical association)	0.490
FAM217A	TEX11	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): FAM217A (Two-hybrid), FAM217A (Two-hybrid), FAM217A (Affinity Capture-MS), TET3 (Cross-Linking-MS (XL-MS)), FAM217A (Affinity Capture-RNA)

ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1

Diamond homologs: Q5XHY8, Q8IXS0, Q9D9W6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2987 predictions. Top by Δscore:

Variant	Effect	Δscore
6:4049729:TA:T	acceptor_loss	1.0000
6:4049730:A:AG	acceptor_gain	1.0000
6:4049731:G:GA	acceptor_gain	1.0000
6:4049731:GGT:G	acceptor_gain	1.0000
6:4049731:GGTGT:G	acceptor_gain	1.0000
6:4049880:G:GG	donor_gain	1.0000
6:4051951:TTTTA:T	acceptor_loss	1.0000
6:4051952:TTTA:T	acceptor_loss	1.0000
6:4051954:TA:T	acceptor_loss	1.0000
6:4051955:A:AG	acceptor_gain	1.0000
6:4051956:G:A	acceptor_loss	1.0000
6:4051956:G:GG	acceptor_gain	1.0000
6:4052090:CTCAG:C	donor_loss	1.0000
6:4052094:GGTAC:G	donor_loss	1.0000
6:4052704:A:AG	acceptor_gain	1.0000
6:4052705:A:G	acceptor_gain	1.0000
6:4052715:A:AG	acceptor_gain	1.0000
6:4052716:A:G	acceptor_gain	1.0000
6:4052716:AAAG:A	acceptor_loss	1.0000
6:4052717:A:AG	acceptor_gain	1.0000
6:4052717:AAGC:A	acceptor_loss	1.0000
6:4052718:A:G	acceptor_gain	1.0000
6:4052718:AGCAT:A	acceptor_gain	1.0000
6:4052719:G:GA	acceptor_gain	1.0000
6:4052719:GC:G	acceptor_gain	1.0000
6:4052719:GCAT:G	acceptor_gain	1.0000
6:4052719:GCATG:G	acceptor_gain	1.0000
6:4052874:G:GG	donor_gain	1.0000
6:4056436:G:GG	donor_gain	1.0000
6:4057185:AAGG:A	donor_loss	1.0000

AlphaMissense

3365 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:4069339:C:G	R295P	0.987
6:4069354:A:G	L290S	0.984
6:4069345:A:G	L293P	0.983
6:4069468:A:G	L252P	0.977
6:4069468:A:C	L252R	0.974
6:4069357:C:G	R289P	0.973
6:4069341:T:A	E294D	0.972
6:4069341:T:G	E294D	0.972
6:4069342:T:A	E294V	0.972
6:4069468:A:T	L252H	0.971
6:4069429:G:T	A265D	0.969
6:4069351:A:G	L291P	0.964
6:4069441:A:G	L261S	0.961
6:4069481:A:C	Y248D	0.953
6:4069409:A:G	W272R	0.952
6:4069409:A:T	W272R	0.952
6:4069332:T:A	Q297H	0.951
6:4069332:T:G	Q297H	0.951
6:4069471:A:G	F251S	0.950
6:4069358:G:T	R289S	0.939
6:4069333:T:G	Q297P	0.934
6:4069366:A:G	L286S	0.934
6:4069342:T:G	E294A	0.933
6:4069430:C:G	A265P	0.932
6:4069330:T:G	H298P	0.929
6:4069546:A:G	L226S	0.914
6:4069485:A:C	F246L	0.913
6:4069485:A:T	F246L	0.913
6:4069487:A:G	F246L	0.913
6:4069470:A:C	F251L	0.911

dbSNP variants (sampled 300 via entrez): RS1000085707 (6:4078013 T>C), RS1000210612 (6:4071773 T>C), RS1000329092 (6:4075218 C>T), RS1000428451 (6:4084728 T>C), RS1000663698 (6:4073696 C>A), RS1000875163 (6:4080198 C>T), RS1001068386 (6:4086779 C>G), RS1001090741 (6:4079357 C>A,G,T), RS1001245059 (6:4079952 G>T), RS1001297939 (6:4076411 G>A), RS1001379681 (6:4085891 C>T), RS1001699288 (6:4088906 G>A), RS1001733382 (6:4089108 A>G), RS1001909844 (6:4082924 C>A,G,T), RS1002034501 (6:4087740 G>A,T)

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
GCST003542_140	Night sleep phenotypes	9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
hydroxyhydroquinone	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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