FAM133B

Summary

FAM133B (family with sequence similarity 133 member B, HGNC:28629) is a protein-coding gene on chromosome 7q21.2, encoding Protein FAM133B (Q5BKY9). It is a common-essential gene (DepMap: required in 96.9% of cancer cell lines).

Enables RNA binding activity.

Source: NCBI Gene 257415 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 26 total
• Cancer dependency (DepMap): dependent in 96.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_152789

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28629
Approved symbol	FAM133B
Name	family with sequence similarity 133 member B
Location	7q21.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC40405
Ensembl gene	ENSG00000234545
Ensembl biotype	protein_coding
Entrez	257415

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay

ENST00000415397, ENST00000427372, ENST00000438306, ENST00000445716, ENST00000456502, ENST00000468931, ENST00000480397, ENST00000481407, ENST00000490747, ENST00000492686, ENST00000494079, ENST00000859893, ENST00000859894, ENST00000938695, ENST00000938696, ENST00000938697, ENST00000938698, ENST00000958471

RefSeq mRNA: 3 — MANE Select: NM_152789 NM_001040057, NM_001288584, NM_152789

CCDS: CCDS47640, CCDS47641

Canonical transcript exons

ENST00000445716 — 11 exons

Exon	Start	End
ENSE00001604784	92590268	92590390
ENSE00001654779	92577655	92577717
ENSE00001701193	92566014	92566061
ENSE00001764448	92560758	92562368
ENSE00001806486	92578150	92578182
ENSE00003534853	92579317	92579395
ENSE00003540429	92569823	92569915
ENSE00003575915	92577103	92577195
ENSE00003615659	92578319	92578393
ENSE00003618910	92581506	92581603
ENSE00003657574	92575771	92575821

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 95.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.7466 / max 271.8188, expressed in 1560 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84802	1.9774	1019
84801	1.6025	982
84800	0.8565	514
84803	0.3102	126

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	95.58	gold quality
corpus callosum	UBERON:0002336	94.80	gold quality
sural nerve	UBERON:0015488	93.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.96	gold quality
bone marrow	UBERON:0002371	92.38	gold quality
endometrium	UBERON:0001295	91.72	gold quality
bone marrow cell	CL:0002092	91.57	gold quality
ventricular zone	UBERON:0003053	91.11	gold quality
tonsil	UBERON:0002372	90.69	gold quality
monocyte	CL:0000576	90.68	gold quality
colonic epithelium	UBERON:0000397	90.50	gold quality
leukocyte	CL:0000738	90.34	gold quality
adrenal tissue	UBERON:0018303	90.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.86	gold quality
ganglionic eminence	UBERON:0004023	89.84	gold quality
primary visual cortex	UBERON:0002436	89.35	gold quality
cerebellar hemisphere	UBERON:0002245	89.16	gold quality
cerebellar cortex	UBERON:0002129	89.13	gold quality
cerebellum	UBERON:0002037	89.02	gold quality
body of pancreas	UBERON:0001150	88.98	gold quality
lymph node	UBERON:0000029	88.67	gold quality
ovary	UBERON:0000992	88.66	gold quality
left ovary	UBERON:0002119	88.54	gold quality
uterine cervix	UBERON:0000002	88.40	gold quality
pancreas	UBERON:0001264	88.29	gold quality
muscle tissue	UBERON:0002385	88.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.02	gold quality
body of uterus	UBERON:0009853	87.91	gold quality
rectum	UBERON:0001052	87.74	gold quality
smooth muscle tissue	UBERON:0001135	87.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

111 targeting FAM133B, 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-3646	100.00	73.56	5283
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-150-5P	99.99	66.69	1976
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-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.9% of screened cell lines, common-essential.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam133b	ENSDARG00000013863
mus_musculus	Fam133b	ENSMUSG00000058503
rattus_norvegicus	Fam133b	ENSRNOG00000009163
rattus_norvegicus		ENSRNOG00000082728

Paralogs (1): FAM133A (ENSG00000179083)

Protein

Protein identifiers

Protein FAM133B — Q5BKY9 (reviewed: Q5BKY9)

All UniProt accessions (4): C9JUX2, Q5BKY9, G3XAI9, H0YH72

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM133 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5BKY9-1	1	yes
Q5BKY9-2	2

RefSeq proteins (3): NP_001035146, NP_001275513, NP_690002* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026766	Fam133	Family

UniProt features (16 total): compositionally biased region 7, modified residue 5, region of interest 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BKY9-F1	63.45	0.08

Functional residue map

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

Post-translational modifications (5): 82, 191, 192, 194, 196

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 150 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GTGCCTT_MIR506, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, TGTGTGA_MIR377, GTCAGGA_MIR378, YGCGYRCGC_UNKNOWN, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_NUCLEOLUS, VECCHI_GASTRIC_CANCER_EARLY_UP, TTTGCAG_MIR518A2, ATF6_TARGET_GENES, CBX5_TARGET_GENES, CHAMP1_TARGET_GENES, FEV_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): RNA binding (GO:0003723)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	1

Protein interactions and networks

STRING

444 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM133B	RBM48	Q5RL73	540
FAM133B	CDK6	Q00534	510
FAM133B	HEPACAM2	A8MVW5	483
FAM133B	FAM98C	Q17RN3	476
FAM133B	ANKRD52	Q8NB46	476
FAM133B	GATAD1	Q8WUU5	474
FAM133B	VPS50	Q96JG6	463
FAM133B	RAB3GAP2	Q9H2M9	459
FAM133B	THAP8	Q8NA92	448
FAM133B	WDR38	Q5JTN6	443
FAM133B	KNOP1	Q1ED39	439
FAM133B	FAM204A	Q9H8W3	437
FAM133B	SAMD9	Q5K651	372
FAM133B	GARRE1	O15063	358
FAM133B	CCDC138	Q96M89	357

IntAct

17 interactions, top by confidence:

A	B	Type	Score
ATR	YBX3	psi-mi:“MI:0914”(association)	0.350
TSNAX		psi-mi:“MI:0914”(association)	0.350
PPP4R2	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
FAM133A	C1orf226	psi-mi:“MI:0914”(association)	0.350
S100P	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LINC02910	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
GNL2	POLR1G	psi-mi:“MI:0914”(association)	0.350
PEA15	CLASP2	psi-mi:“MI:0914”(association)	0.350
env	TOR1A	psi-mi:“MI:0914”(association)	0.350
ATF3	C11orf98	psi-mi:“MI:0914”(association)	0.350
HRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
KRAS		psi-mi:“MI:0914”(association)	0.350
FHIP1A	ILVBL	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (39): FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Protein-RNA), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-RNA), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS), FAM133B (Affinity Capture-MS)

ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, G2TRQ9, O14256, O55035, P30189, P30414, P41512, Q04750, Q07050, Q13427, Q27450, Q28EE8, Q3KPW4, Q4V9W2, Q505I5, Q59LQ5, Q5BKY9, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6BNE1, Q6NQD9, Q6NWI1, Q6ZUT1, Q751P0, Q7L4I2, Q7YR26, Q80SY5, Q8GWY0, Q8N9E0, Q8N9Q2, Q8R0F5

Diamond homologs: A1A5I1, Q505I5, Q5BKY9, Q5ZLM8, Q8N9E0, Q9CVI2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1718 predictions. Top by Δscore:

Variant	Effect	Δscore
7:92562364:TTTTC:T	acceptor_gain	1.0000
7:92562366:TTC:T	acceptor_gain	1.0000
7:92562367:TCC:T	acceptor_loss	1.0000
7:92562368:CCTGT:C	acceptor_loss	1.0000
7:92562369:C:CC	acceptor_gain	1.0000
7:92562369:CTGT:C	acceptor_loss	1.0000
7:92562370:T:C	acceptor_loss	1.0000
7:92569819:TTA:T	donor_loss	1.0000
7:92569820:TA:T	donor_loss	1.0000
7:92569821:A:AC	donor_gain	1.0000
7:92569821:AC:A	donor_gain	1.0000
7:92569821:ACCT:A	donor_gain	1.0000
7:92569821:ACCTC:A	donor_gain	1.0000
7:92569822:C:CA	donor_gain	1.0000
7:92569822:CC:C	donor_gain	1.0000
7:92569822:CCT:C	donor_gain	1.0000
7:92569822:CCTC:C	donor_gain	1.0000
7:92569822:CCTCC:C	donor_gain	1.0000
7:92569911:ATATC:A	acceptor_gain	1.0000
7:92569912:TATC:T	acceptor_gain	1.0000
7:92569913:ATC:A	acceptor_gain	1.0000
7:92569914:TC:T	acceptor_gain	1.0000
7:92569915:CCTA:C	acceptor_gain	1.0000
7:92569916:C:CC	acceptor_gain	1.0000
7:92569916:C:T	acceptor_gain	1.0000
7:92569917:T:G	acceptor_loss	1.0000
7:92569918:A:AC	acceptor_gain	1.0000
7:92569918:A:C	acceptor_gain	1.0000
7:92575767:TTAC:T	donor_loss	1.0000
7:92575768:TAC:T	donor_loss	1.0000

AlphaMissense

1625 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:92578364:C:A	R77S	1.000
7:92578364:C:G	R77S	1.000
7:92578365:C:A	R77M	1.000
7:92578365:C:G	R77T	1.000
7:92578377:A:G	L73P	1.000
7:92578388:C:A	W69C	1.000
7:92578388:C:G	W69C	1.000
7:92578389:C:G	W69S	1.000
7:92578390:A:G	W69R	1.000
7:92578390:A:T	W69R	1.000
7:92579332:T:A	E62D	1.000
7:92579332:T:G	E62D	1.000
7:92579335:A:C	F61L	1.000
7:92579335:A:T	F61L	1.000
7:92579336:A:G	F61S	1.000
7:92579337:A:G	F61L	1.000
7:92579343:C:G	A59P	1.000
7:92579345:A:G	L58S	1.000
7:92579395:C:A	W41C	1.000
7:92579395:C:G	W41C	1.000
7:92581507:A:G	W41R	1.000
7:92581507:A:T	W41R	1.000
7:92581512:G:T	P39H	1.000
7:92581513:G:A	P39S	1.000
7:92581513:G:T	P39T	1.000
7:92581514:C:A	R38S	1.000
7:92581514:C:G	R38S	1.000
7:92581515:C:A	R38M	1.000
7:92581515:C:G	R38T	1.000
7:92581527:A:G	L34P	1.000

dbSNP variants (sampled 300 via entrez): RS1000030156 (7:92582327 A>C), RS1000052237 (7:92591396 A>G), RS1000103274 (7:92582773 G>C), RS1000181237 (7:92561789 C>G), RS1000278996 (7:92588786 G>C,T), RS1000503030 (7:92563824 C>A,T), RS1000700761 (7:92570198 A>T), RS1000731323 (7:92570543 C>T), RS1000932260 (7:92576815 T>C), RS1000968911 (7:92583019 G>A,C), RS1000975121 (7:92569503 T>C), RS1000979350 (7:92564035 T>C), RS1001036216 (7:92584024 T>A,C,G), RS1001154177 (7:92575459 C>G,T), RS1001225643 (7:92563591 A>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

11 associations (top):

Study	Trait	p-value
GCST005588_34	Idiopathic dilated cardiomyopathy	7.000000e-06
GCST006288_647	Heel bone mineral density	4.000000e-12
GCST006288_754	Heel bone mineral density	2.000000e-09
GCST012227_121	Hip circumference adjusted for BMI	3.000000e-11
GCST012227_122	Hip circumference adjusted for BMI	1.000000e-09
GCST012227_126	Hip circumference adjusted for BMI	8.000000e-10
GCST90002398_382	Neutrophil count	3.000000e-10
GCST90002407_482	White blood cell count	8.000000e-11
GCST90020028_170	Hip circumference adjusted for BMI	1.000000e-15
GCST90020028_171	Hip circumference adjusted for BMI	7.000000e-14
GCST90020028_466	Hip circumference adjusted for BMI	1.000000e-19

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009094	idiopathic dilated cardiomyopathy
EFO:0009270	heel bone mineral density
EFO:0008039	BMI-adjusted hip circumference
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Valproic Acid	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
trichostatin A	increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
MT19c compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases oxidation, affects cotreatment	1
Arsenic	affects methylation	1
Cisplatin	decreases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylstilbestrol	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_1316	J.RT3-T3.5	Cancer cell line	Male

Clinical trials (associated diseases)

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