FAM72A

Summary

FAM72A (family with sequence similarity 72 member A, HGNC:24044) is a protein-coding gene on chromosome 1q32.1, encoding Protein FAM72A (Q5TYM5). May play a role in the regulation of cellular reactive oxygen species metabolism.

Predicted to act upstream of or within positive regulation of apoptotic process. Located in cytosol and intracellular membrane-bounded organelle.

Source: NCBI Gene 729533 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 15 total
• MANE Select transcript: NM_001123168

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24044
Approved symbol	FAM72A
Name	family with sequence similarity 72 member A
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC57827, RP11-312O7.1, UGENE, LMPIP, p17
Ensembl gene	ENSG00000196550
Ensembl biotype	protein_coding
OMIM	614710
Entrez	729533

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000341209, ENST00000367128, ENST00000367129, ENST00000431655, ENST00000468509, ENST00000470041, ENST00000481737, ENST00000607379, ENST00000931113, ENST00000931114

RefSeq mRNA: 11 — MANE Select: NM_001123168 NM_001123168, NM_001317901, NM_001385240, NM_001385241, NM_001385242, NM_001385243, NM_001385244, NM_001385245, NM_001385248, NM_001385249, NM_001385251

CCDS: CCDS73016, CCDS81420, CCDS91153

Canonical transcript exons

ENST00000367128 — 4 exons

Exon	Start	End
ENSE00001838754	206186179	206187373
ENSE00001933326	206201874	206202839
ENSE00003697095	206199807	206199884
ENSE00003698349	206195752	206195876

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 84.54.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.54	gold quality
ventricular zone	UBERON:0003053	84.09	gold quality
sural nerve	UBERON:0015488	81.94	gold quality
monocyte	CL:0000576	80.84	gold quality
leukocyte	CL:0000738	80.13	gold quality
ganglionic eminence	UBERON:0004023	79.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.95	gold quality
bone marrow	UBERON:0002371	78.54	gold quality
bone marrow cell	CL:0002092	78.22	gold quality
lymph node	UBERON:0000029	78.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.15	gold quality
cerebellum	UBERON:0002037	78.01	gold quality
cerebellar cortex	UBERON:0002129	77.95	gold quality
cerebellar hemisphere	UBERON:0002245	77.90	gold quality
spleen	UBERON:0002106	76.76	gold quality
vermiform appendix	UBERON:0001154	75.89	gold quality
skin of leg	UBERON:0001511	74.84	gold quality
omental fat pad	UBERON:0010414	74.54	gold quality
granulocyte	CL:0000094	74.46	gold quality
zone of skin	UBERON:0000014	74.12	gold quality
adipose tissue	UBERON:0001013	73.87	gold quality
adrenal tissue	UBERON:0018303	73.43	gold quality
subcutaneous adipose tissue	UBERON:0002190	73.37	gold quality
lower esophagus mucosa	UBERON:0035834	73.32	gold quality
skin of abdomen	UBERON:0001416	73.07	gold quality
testis	UBERON:0000473	72.92	gold quality
placenta	UBERON:0001987	72.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.73	gold quality
stromal cell of endometrium	CL:0002255	72.66	gold quality
left testis	UBERON:0004533	72.59	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-HCAD-13	no	2.91
E-ANND-3	no	2.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting FAM72A, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311

Literature-anchored findings (GeneRIF, showing 9)

• Using deletion constructs, the authors find that Ugene binds to the first 25 amino acids of the UNG2 NH(2) terminus. They suggest that Ugene induction in cancer may contribute to the cancer phenotype by interacting with the BER pathway. (PMID:18676834)
• this study provides an additional possible mechanism of neurotoxicity in Alzheimer’s disease, the induction of p17(FAM72B), through which Abeta acts to induce apoptosis and exhibit other Alzheimer’s disease characteristics. (PMID:19755123)
• It was found that Ugene, designated herein as LMP1-induced protein (LMPIP), was induced, in a time-dependent manner, in EBV-infected peripheral blood mononuclear cells and LMP1-transfected 293 cells. (PMID:21317926)
• Data indicate that p17 (p17 amyloid-beta peptide-induced protein; known as Ugene, LMPIP, or FAM72A/B) drives the cell cycle into the G0/G1 phase and enhances survival of proliferating cells. (PMID:23900679)
• An epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci (FAM72A, FAM72B, FAM72C, FAM72D). (PMID:26206078)
• FAM72A antagonizes UNG2 to promote mutagenic repair during antibody maturation. (PMID:34819670)
• Prognostic and Immunological Implications of FAM72A in Pan-Cancer and Functional Validations. (PMID:36613817)
• The pan-cancer analysis of the oncogenic role of FAM72A as a BRCA prognostic biomarker and immunotherapeutic target. (PMID:36757015)
• Fam72a functions as a cell-cycle-controlled gene during proliferation and antagonizes apoptosis through reprogramming PP2A substrates. (PMID:36868233)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	FAM72A	ENSDARG00000070621
mus_musculus	Fam72a	ENSMUSG00000055184
rattus_norvegicus	Fam72a	ENSRNOG00000042747

Paralogs (3): FAM72B (ENSG00000188610), FAM72D (ENSG00000215784), FAM72C (ENSG00000263513)

Protein

Protein identifiers

Protein FAM72A — Q5TYM5 (reviewed: Q5TYM5)

Alternative names: Latent membrane protein 1-induced protein

All UniProt accessions (5): Q5TYM5, Q5TYM6, U3KPW2, U3KQ03, U3KQM2

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in cell growth regulation.

Subunit / interactions. Interacts with UNG.

Subcellular location. Cytoplasm. Mitochondrion.

Tissue specificity. May be up-regulated in malignant colon cancers, compared to normal colon and colon adenomas. Expression is also elevated in other common cancer types, including breast, lung, uterus, and ovary.

Induction. Up-regulated in peripheral blood mononuclear cells following Epstein-Barr virus (EBV) infection or following transfection with EBV LMP1 protein.

Miscellaneous. Highly homologous to GCUD2 but localized to a distinct locus.

Similarity. Belongs to the FAM72 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5TYM5-1	1, Ugene-p	yes
Q5TYM5-2	2

RefSeq proteins (11): NP_001116640, NP_001304830, NP_001372169, NP_001372170, NP_001372171, NP_001372172, NP_001372173, NP_001372174, NP_001372177, NP_001372178, NP_001372180 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026768	YPEH2ZP	Family

Pfam: PF14976

UniProt features (3 total): chain 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TYM5-F1	86.25	0.71

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

Position	Phenotype
125	loss of ung-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 108 (showing top): AREB6_01, GATA6_01, FOXJ2_01, YNGTTNNNATT_UNKNOWN, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_UP, GSE14415_INDUCED_TREG_VS_FAILED_INDUCED_TREG_UP, GATA1_05, GSE14415_INDUCED_TREG_VS_TCONV_UP, GSE14415_ACT_VS_CTRL_NATURAL_TREG_UP, GSE13547_2H_VS_12_H_ANTI_IGM_STIM_BCELL_DN, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, GREB1_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (3): mitochondrion (GO:0005739), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

662 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM72A	PTPN20	Q4JDL3	456
FAM72A	ANKRD20A3P	Q5VUR7	447
FAM72A	GTF2H2C	Q6P1K8	447
FAM72A	DHRS4L2	Q6PKH6	434
FAM72A	SRGAP2	O75044	430
FAM72A	ZNG1F	Q4V339	427
FAM72A	GTF2H2	Q13888	426
FAM72A	ZNG1C	Q5JTY5	426
FAM72A	CASTOR2	A6NHX0	425
FAM72A	SRGAP2B	P0DMP2	411
FAM72A	OTUD7A	Q8TE49	409
FAM72A	ZNG1A	Q9BRT8	401
FAM72A	MTMR10	Q9NXD2	386
FAM72A	C1orf74	Q96LT6	374
FAM72A	ANKRD20A2P	Q5SQ80	372

IntAct

7 interactions, top by confidence:

A	B	Type	Score
FAM72A	MPPED2	psi-mi:“MI:0915”(physical association)	0.560
MPPED2	FAM72A	psi-mi:“MI:0915”(physical association)	0.560
FAM72A	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
NTAQ1	FAM72A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): FAM72A (Two-hybrid), FAM72A (Two-hybrid)

ESM2 similar proteins: A1KXW8, A6QL50, E1BGQ2, H0Y354, O94955, P47224, Q08326, Q0IIH8, Q1JQA1, Q1RMS8, Q1RMZ1, Q2TBU5, Q3T1H6, Q4R372, Q4R528, Q4R9C4, Q5F480, Q5F4A1, Q5I0G3, Q5RCQ0, Q5RFG8, Q5TFE4, Q5TYM5, Q641X7, Q6L9T8, Q6PIP5, Q7L622, Q7Z6J8, Q7ZX59, Q86X60, Q8BFZ8, Q8BKW4, Q8BM85, Q8BX13, Q8CEL2, Q8N5C7, Q8N635, Q8NHU2, Q8TCF1, Q8TCJ0

Diamond homologs: A1KXW8, A6QL50, H0Y354, Q5TYM5, Q6L9T8, Q86X60, Q8BFZ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

825 predictions. Top by Δscore:

Variant	Effect	Δscore
1:206195875:GT:G	acceptor_gain	1.0000
1:206202696:G:T	donor_gain	1.0000
1:206202727:G:T	donor_gain	1.0000
1:206202728:GGGAC:G	donor_gain	1.0000
1:206202741:G:GT	donor_gain	1.0000
1:206195875:G:GG	acceptor_gain	0.9900
1:206195875:GTG:G	acceptor_gain	0.9900
1:206195875:GTGG:G	acceptor_gain	0.9900
1:206195876:A:AG	acceptor_gain	0.9900
1:206195876:AGT:A	acceptor_gain	0.9900
1:206195876:AGTG:A	acceptor_gain	0.9900
1:206199883:G:GA	acceptor_gain	0.9900
1:206199883:GCGCA:G	acceptor_gain	0.9900
1:206199884:A:AG	acceptor_gain	0.9900
1:206202522:G:GT	donor_gain	0.9900
1:206202528:G:T	donor_gain	0.9900
1:206202546:G:GT	donor_gain	0.9900
1:206202610:A:T	donor_gain	0.9900
1:206202611:G:GT	donor_gain	0.9900
1:206202691:G:T	donor_gain	0.9900
1:206202692:G:GT	donor_gain	0.9900
1:206202696:G:GT	donor_gain	0.9900
1:206202702:C:G	donor_gain	0.9900
1:206202733:C:G	donor_gain	0.9900
1:206202740:A:T	donor_gain	0.9900
1:206202741:G:T	donor_gain	0.9900
1:206202756:G:GT	donor_gain	0.9900
1:206202756:G:T	donor_gain	0.9900
1:206199803:T:A	donor_loss	0.9800
1:206199806:TGG:T	donor_loss	0.9800

AlphaMissense

998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:206195862:C:A	G82V	0.998
1:206195862:C:T	G82D	0.998
1:206195863:C:G	G82R	0.998
1:206199817:A:G	C74R	0.998
1:206187354:C:A	W125C	0.997
1:206187354:C:G	W125C	0.997
1:206187356:A:G	W125R	0.997
1:206187356:A:T	W125R	0.997
1:206195796:A:G	F104S	0.997
1:206195803:A:G	W102R	0.997
1:206195803:A:T	W102R	0.997
1:206195863:C:A	G82C	0.997
1:206201948:G:C	S26R	0.997
1:206201948:G:T	S26R	0.997
1:206201950:T:G	S26R	0.997
1:206195781:A:T	V109D	0.996
1:206195874:C:A	G78V	0.996
1:206199808:A:G	C77R	0.996
1:206199815:A:C	C74W	0.996
1:206199816:C:G	C74S	0.996
1:206199817:A:T	C74S	0.996
1:206199837:C:G	C67S	0.996
1:206199838:A:T	C67S	0.996
1:206201943:C:A	R28M	0.996
1:206201974:A:G	C18R	0.996
1:206195842:A:G	C89R	0.995
1:206195853:A:T	V85E	0.995
1:206199838:A:G	C67R	0.995
1:206201890:C:G	D46H	0.995
1:206201940:C:T	G29E	0.995

dbSNP variants (sampled 300 via entrez): RS1077770 (1:206189142 C>T), RS111756773 (1:206192917 C>T), RS111793857 (1:206188443 T>A,G), RS112231686 (1:206206932 G>A), RS112419596 (1:206198602 A>G), RS112424008 (1:206205979 T>C), RS112635808 (1:206194750 T>A), RS112710640 (1:206189766 T>A), RS112821661 (1:206197915 A>C), RS113244251 (1:206204911 C>A,G,T), RS113678177 (1:206188757 G>A,T), RS113689085 (1:206199303 A>T), RS113753515 (1:206191394 G>A), RS113828872 (1:206193513 A>C), RS113931771 (1:206190603 T>C)

Disease associations

OMIM: gene MIM:614710 | 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

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	increases expression	2
bisphenol A	decreases expression	1
trichostatin A	decreases expression	1
sulforaphane	increases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	decreases expression	1
azoxystrobin	increases expression	1
CGP 52608	increases reaction, affects binding	1
deguelin	increases expression	1
fenpyroximate	increases expression	1
pyrimidifen	increases expression	1
thifluzamide	increases expression	1
pyrachlostrobin	increases expression	1
picoxystrobin	decreases expression	1
Sunitinib	decreases expression	1
Antimycin A	increases expression	1
Lucanthone	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Phenylmercuric Acetate	decreases expression	1
Rotenone	increases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Amosite	increases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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