FAM72B

Summary

FAM72B (family with sequence similarity 72 member B, HGNC:24805) is a protein-coding gene on chromosome 1p11.2, encoding Protein FAM72B (Q86X60).

Located in cytosol and intracellular membrane-bounded organelle.

Source: NCBI Gene 653820 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 38 total — 2 pathogenic
• MANE Select transcript: NM_001100910

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24805
Approved symbol	FAM72B
Name	family with sequence similarity 72 member B
Location	1p11.2
Locus type	gene with protein product
Status	Approved
Aliases	RP11-439A17.6
Ensembl gene	ENSG00000188610
Ensembl biotype	protein_coding
OMIM	614711
Entrez	653820

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000355228, ENST00000369390, ENST00000452190, ENST00000468129, ENST00000471903, ENST00000616749, ENST00000619376, ENST00000911613

RefSeq mRNA: 2 — MANE Select: NM_001100910 NM_001100910, NM_001320149

CCDS: CCDS72848, CCDS81362

Canonical transcript exons

ENST00000369390 — 4 exons

Exon	Start	End
ENSE00001449936	121167646	121168835
ENSE00001545924	121183338	121184340
ENSE00003678194	121181271	121181348
ENSE00003722722	121177208	121177332

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 85.77.

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	85.77	gold quality
ventricular zone	UBERON:0003053	85.13	gold quality
ganglionic eminence	UBERON:0004023	79.04	gold quality
lymph node	UBERON:0000029	75.13	gold quality
vermiform appendix	UBERON:0001154	73.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.30	gold quality
stromal cell of endometrium	CL:0002255	72.06	gold quality
bone marrow	UBERON:0002371	71.92	gold quality
monocyte	CL:0000576	71.25	gold quality
endometrium	UBERON:0001295	71.12	gold quality
leukocyte	CL:0000738	70.94	gold quality
cerebellum	UBERON:0002037	70.78	gold quality
cerebellar cortex	UBERON:0002129	70.76	gold quality
cerebellar hemisphere	UBERON:0002245	70.76	gold quality
adrenal tissue	UBERON:0018303	70.26	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.18	gold quality
placenta	UBERON:0001987	68.26	gold quality
bone marrow cell	CL:0002092	67.71	gold quality
spleen	UBERON:0002106	66.67	gold quality
lower esophagus mucosa	UBERON:0035834	66.49	gold quality
tonsil	UBERON:0002372	66.08	gold quality
granulocyte	CL:0000094	65.82	gold quality
esophagus mucosa	UBERON:0002469	65.54	gold quality
rectum	UBERON:0001052	64.51	gold quality
mucosa of transverse colon	UBERON:0004991	64.50	gold quality
sural nerve	UBERON:0015488	64.39	gold quality
duodenum	UBERON:0002114	64.33	gold quality
right adrenal gland cortex	UBERON:0035827	63.79	gold quality
skin of leg	UBERON:0001511	63.75	gold quality
zone of skin	UBERON:0000014	63.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	42.27
E-ANND-3	no	2.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting FAM72B, 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-3613-3P	100.00	76.36	7965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3658	99.96	73.87	4379
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-613	99.91	71.50	1710
HSA-MIR-10527-5P	99.91	72.28	3754
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-4447	99.85	67.81	2900
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-3059-5P	99.70	69.93	2491
HSA-MIR-30B-3P	99.70	65.76	2325

Literature-anchored findings (GeneRIF, showing 2)

• 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)
• An epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci (FAM72A, FAM72B, FAM72C, FAM72D). (PMID:26206078)

Cross-species orthologs

3 orthologs

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

Paralogs (3): FAM72A (ENSG00000196550), FAM72D (ENSG00000215784), FAM72C (ENSG00000263513)

Protein

Protein identifiers

Protein FAM72B — Q86X60 (reviewed: Q86X60)

All UniProt accessions (4): A0A087WZP4, A0A087X1Y7, Q5QP12, Q86X60

UniProt curated annotations — full annotation on UniProt →

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

Similarity. Belongs to the FAM72 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86X60-1	1	yes
Q86X60-2	2

RefSeq proteins (2): NP_001094380, NP_001307078 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026768	YPEH2ZP	Family

Pfam: PF14976

UniProt features (4 total): sequence variant 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86X60-F1	85.33	0.67

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 45 (showing top): PATIL_LIVER_CANCER, chr1p11, WHITFIELD_CELL_CYCLE_G2, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, OVOL3_TARGET_GENES, PRKDC_TARGET_GENES, ZNF184_TARGET_GENES, MIR153_5P, MIR1277_5P, MIR3121_3P, MIR10527_5P, MIR4482_3P, MIR206, MIR1_3P

GO Biological Process (0):

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

GO Cellular Component (1): cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

638 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM72B	SRGAP2C	P0DJJ0	652
FAM72B	SRGAP2B	P0DMP2	589
FAM72B	ARHGAP11B	Q3KRB8	513
FAM72B	ANKRD20A3P	Q5VUR7	507
FAM72B	DHRS4L2	Q6PKH6	485
FAM72B	ZNG1C	Q5JTY5	484
FAM72B	ZNG1F	Q4V339	484
FAM72B	GOLGA8CP	A6NN73	477
FAM72B	GTF2H2C	Q6P1K8	474
FAM72B	NBPF15	Q8N660	461
FAM72B	GTF2H2	Q13888	452
FAM72B	ARHGEF35	A5YM69	451
FAM72B	CASTOR2	A6NHX0	450
FAM72B	ANKRD20A4P	Q4UJ75	447
FAM72B	FSAF1	Q8NDD1	447
FAM72B	ANKRD20A2P	Q5SQ80	447

IntAct

1 interactions, top by confidence:

BioGRID (2): FAM72B (Two-hybrid), KPRP (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

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	21
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
145983	GRCh38/hg38 1p13.2-11.2(chr1:121086594-144935242)x3	Pathogenic
58087	GRCh38/hg38 1p12-q21.2(chr1:121086594-144935242)x3	Pathogenic

SpliceAI

32 predictions. Top by Δscore:

Variant	Effect	Δscore
1:121177292:G:GG	acceptor_gain	0.8200
1:121177293:A:AG	acceptor_gain	0.8200
1:121177272:A:AG	acceptor_gain	0.7100
1:121177291:T:G	acceptor_gain	0.6700
1:121177271:A:G	acceptor_gain	0.5600
1:121177305:A:T	acceptor_gain	0.5100
1:121177302:G:T	acceptor_gain	0.4800
1:121177297:A:T	acceptor_gain	0.4700
1:121177312:T:A	acceptor_gain	0.4400
1:121177296:T:TT	acceptor_gain	0.4200
1:121177314:T:A	acceptor_gain	0.3800
1:121177317:G:T	acceptor_gain	0.3800
1:121177296:T:G	acceptor_gain	0.3700
1:121177313:A:AA	acceptor_gain	0.3600
1:121177307:TGA:T	acceptor_gain	0.3400
1:121177316:G:C	acceptor_gain	0.3400
1:121177306:G:T	acceptor_gain	0.3300
1:121177300:T:TT	acceptor_gain	0.3100
1:121177301:T:TT	acceptor_gain	0.3100
1:121177275:T:TA	acceptor_gain	0.2600
1:121177299:C:T	acceptor_gain	0.2600
1:121177303:T:TT	acceptor_gain	0.2600
1:121177304:T:TT	acceptor_gain	0.2600
1:121174672:GAA:G	donor_gain	0.2000
1:121177292:GT:G	acceptor_loss	0.2000
1:121177293:A:C	acceptor_loss	0.2000
1:121177294:T:G	acceptor_loss	0.2000
1:121177295:GTA:G	acceptor_loss	0.2000
1:121177296:TGTA:T	acceptor_loss	0.2000
1:121177297:ATGT:A	acceptor_loss	0.2000

AlphaMissense

999 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:121177318:C:T	G82D	0.996
1:121183412:G:C	S26R	0.996
1:121183412:G:T	S26R	0.996
1:121183414:T:G	S26R	0.996
1:121177252:A:G	F104S	0.995
1:121177319:C:G	G82R	0.995
1:121177259:A:G	W102R	0.994
1:121177259:A:T	W102R	0.994
1:121177318:C:A	G82V	0.994
1:121168816:C:A	W125C	0.993
1:121168816:C:G	W125C	0.993
1:121168818:A:G	W125R	0.993
1:121168818:A:T	W125R	0.993
1:121181281:A:G	C74R	0.993
1:121183438:A:G	C18R	0.993
1:121177237:A:T	V109D	0.992
1:121177319:C:A	G82C	0.992
1:121177330:C:A	G78V	0.992
1:121183354:C:G	D46H	0.992
1:121183356:G:A	T45I	0.992
1:121183404:C:T	G29E	0.992
1:121183406:C:A	R28S	0.992
1:121183406:C:G	R28S	0.992
1:121183407:C:A	R28M	0.992
1:121183437:C:G	C18S	0.992
1:121183438:A:T	C18S	0.992
1:121177321:A:T	V81E	0.991
1:121181272:A:G	C77R	0.991
1:121183365:A:G	L42P	0.991
1:121183436:G:C	C18W	0.991

dbSNP variants (sampled 300 via entrez): RS1055682 (1:121177268 C>T), RS111297482 (1:121173568 C>T), RS112282289 (1:121170582 A>G), RS112987898 (1:121180214 G>A), RS1156271488 (1:121185257 G>A,T), RS1156376402 (1:121172220 C>T), RS1156378777 (1:121184096 G>A), RS1156392949 (1:121173450 A>C,G), RS1156481170 (1:121184718 C>A), RS1156536162 (1:121173503 G>A), RS1156560354 (1:121171356 G>A,T), RS1156721212 (1:121170224 G>A), RS1156751135 (1:121182326 GAA>G), RS1156881394 (1:121183356 G>A,T), RS1157047141 (1:121178594 T>C)

Disease associations

OMIM: gene MIM:614711 | 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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	increases abundance, increases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
methyleugenol	decreases expression	1
bisphenol A	decreases expression	1
sodium arsenate	increases abundance, increases expression	1
sulforaphane	increases expression	1
sodium arsenite	increases abundance, increases expression	1
perfluorooctanoic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
incobotulinumtoxinA	decreases expression	1
NSC668394	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Mustard Gas	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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