FAM193B

Summary

FAM193B (family with sequence similarity 193 member B, HGNC:25524) is a protein-coding gene on chromosome 5q35.3, encoding Protein FAM193B (Q96PV7).

Located in cytoplasm; nuclear speck; and nucleolus.

Source: NCBI Gene 54540 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 162 total
• MANE Select transcript: NM_001190946

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25524
Approved symbol	FAM193B
Name	family with sequence similarity 193 member B
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1931, FLJ10404, IRIZIO
Ensembl gene	ENSG00000146067
Ensembl biotype	protein_coding
OMIM	615813
Entrez	54540

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 11 protein_coding, 6 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000502403, ENST00000504130, ENST00000505241, ENST00000505569, ENST00000506064, ENST00000506432, ENST00000506879, ENST00000506955, ENST00000507212, ENST00000507587, ENST00000508298, ENST00000510163, ENST00000510429, ENST00000510479, ENST00000513282, ENST00000513502, ENST00000514747, ENST00000515394, ENST00000524677, ENST00000926804, ENST00000926805, ENST00000926806, ENST00000926807, ENST00000941734, ENST00000941735

RefSeq mRNA: 5 — MANE Select: NM_001190946 NM_001190946, NM_001366498, NM_001366499, NM_001366500, NM_001410826

CCDS: CCDS54954, CCDS93831

Canonical transcript exons

ENST00000514747 — 9 exons

Exon	Start	End
ENSE00002020389	177519789	177520181
ENSE00002042262	177554249	177554563
ENSE00003481986	177538905	177539147
ENSE00003501259	177537873	177538107
ENSE00003555681	177524185	177525205
ENSE00003570085	177521974	177522071
ENSE00003576615	177523957	177524032
ENSE00003601965	177532443	177532641
ENSE00003680704	177536358	177536745

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 98.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3183 / max 82.5033, expressed in 1766 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
65149	8.4785	1744
65148	0.6289	348
65147	0.2109	71

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.68	gold quality
granulocyte	CL:0000094	98.26	gold quality
lower esophagus mucosa	UBERON:0035834	98.07	gold quality
endocervix	UBERON:0000458	98.03	gold quality
tibial nerve	UBERON:0001323	98.01	gold quality
body of uterus	UBERON:0009853	97.94	gold quality
body of pancreas	UBERON:0001150	97.85	gold quality
left ovary	UBERON:0002119	97.83	gold quality
sural nerve	UBERON:0015488	97.83	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.74	gold quality
cerebellar hemisphere	UBERON:0002245	97.67	gold quality
adenohypophysis	UBERON:0002196	97.65	gold quality
spleen	UBERON:0002106	97.63	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.62	gold quality
right ovary	UBERON:0002118	97.61	gold quality
ectocervix	UBERON:0012249	97.61	gold quality
skin of leg	UBERON:0001511	97.57	gold quality
cerebellar cortex	UBERON:0002129	97.57	gold quality
skin of abdomen	UBERON:0001416	97.54	gold quality
right lung	UBERON:0002167	97.46	gold quality
right testis	UBERON:0004534	97.44	gold quality
left testis	UBERON:0004533	97.38	gold quality
metanephros cortex	UBERON:0010533	97.36	gold quality
right lobe of thyroid gland	UBERON:0001119	97.29	gold quality
left lobe of thyroid gland	UBERON:0001120	97.23	gold quality
left uterine tube	UBERON:0001303	97.23	gold quality
body of stomach	UBERON:0001161	97.09	gold quality
right lobe of liver	UBERON:0001114	97.08	gold quality
upper lobe of left lung	UBERON:0008952	97.06	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.14

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• Expression of full length IRIZIO cDNA also cooperated with PAX3-FOXO1 in the transformation of Arf-/- myoblasts. Given that IRIZIO is expressed at increased levels in rhabdomyosarcoma, it might contribute to rhabdomyosarcomagenesis in humans. (PMID:21177767)
• Identification of FAM193b as KCTD5 interaction partner. Formation of trimeric complexes of KCTD5/cullin3 with MCM7, ZNF711 and FAM193B. (PMID:26188516)
• The ceRNA PVT1 inhibits proliferation of ccRCC cells by sponging miR-328-3p to elevate FAM193B expression. (PMID:34518442)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam193b	ENSDARG00000102831
mus_musculus	Fam193b	ENSMUSG00000021495
rattus_norvegicus	Fam193b	ENSRNOG00000039807
drosophila_melanogaster	CG7518	FBGN0038108

Paralogs (1): FAM193A (ENSG00000125386)

Protein

Protein identifiers

Protein FAM193B — Q96PV7 (reviewed: Q96PV7)

All UniProt accessions (11): Q96PV7, D6RAX9, D6RC29, D6RDZ2, D6REE6, D6REQ2, H0Y9D3, H0Y9G1, H0Y9J9, H0Y9W8, H0YCX2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Isoform 1 is up-regulated in both embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma cell lines.

Similarity. Belongs to the FAM193 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96PV7-1	1	yes
Q96PV7-2	2
Q96PV7-3	3

RefSeq proteins (5): NP_001177875, NP_001353427, NP_001353428, NP_001353429, NP_001397755 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029717	FAM193	Family
IPR031802	FAM193_C	Domain

Pfam: PF15914

UniProt features (23 total): compositionally biased region 9, region of interest 6, modified residue 3, splice variant 2, chain 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PV7-F1	53.41	0.07

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 (3): 773, 785, 892

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 126 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GGGNRMNNYCAT_UNKNOWN, TGACCTY_ERR1_Q2, LHX3_01, CAGCTG_AP4_Q5, YY1_02, NF1_Q6_01, ATTCTTT_MIR186, LYF1_01, YY1_01, GCCATNTTG_YY1_Q6, RAAGNYNNCTTY_UNKNOWN, TAATTA_CHX10_01, GCGSCMNTTT_UNKNOWN, GOCC_NUCLEOLUS

GO Biological Process (0):

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

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), nuclear speck (GO:0016607)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	2
cellular anatomical structure	2
binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

500 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM193B	PRR7	Q8TB68	498
FAM193B	ERICH5	Q6P6B1	449
FAM193B	TMED9	Q9BVK6	446
FAM193B	PRMT2IP	Q6ZRI6	400
FAM193B	ABHD15	Q6UXT9	381
FAM193B	KRTAP5-11	Q6L8G4	373
FAM193B	KRTAP5-5	Q701N2	370
FAM193B	DBN1	Q16643	366
FAM193B	UBL7	Q96S82	359
FAM193B	HSD17B12	Q53GQ0	356
FAM193B	EPRS1	P07814	353
FAM193B	EMC1	Q8N766	348
FAM193B	ORMDL1	Q9P0S3	338
FAM193B	LRRC45	Q96CN5	330
FAM193B	PQBP1	O60828	321

IntAct

18 interactions, top by confidence:

A	B	Type	Score
SPANXN2	FAM193B	psi-mi:“MI:0915”(physical association)	0.560
FAM193B	CNOT11	psi-mi:“MI:0915”(physical association)	0.560
GSK3B	SEC16A	psi-mi:“MI:2364”(proximity)	0.420
CDC25A	FAM193B	psi-mi:“MI:0915”(physical association)	0.370
MAPK8	FAM193B	psi-mi:“MI:0915”(physical association)	0.370
FAM193B	PKN2	psi-mi:“MI:0915”(physical association)	0.370
LDOC1	FAM193B	psi-mi:“MI:0915”(physical association)	0.370
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
TRIM10	POLRMT	psi-mi:“MI:0914”(association)	0.350
DGCR8	VWA8	psi-mi:“MI:2364”(proximity)	0.270
RBM15	ILVBL	psi-mi:“MI:2364”(proximity)	0.270
CNOT11	FAM193B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): FAM193B (Two-hybrid), FAM193B (Two-hybrid), FAM193B (Two-hybrid), FAM193B (Affinity Capture-MS), FAM193B (Affinity Capture-MS), FAM193B (Two-hybrid), FAM193B (Affinity Capture-MS), FAM193B (Two-hybrid), FAM193B (Affinity Capture-Western), KCTD5 (Affinity Capture-Western), CUL3 (Affinity Capture-Western), FAM193B (Affinity Capture-MS), FAM193B (Two-hybrid), FAM193B (Affinity Capture-MS), FAM193B (Proximity Label-MS)

ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7

Diamond homologs: A7MB40, P78312, Q3U2K0, Q8CGI1, Q96PV7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	137
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1859 predictions. Top by Δscore:

Variant	Effect	Δscore
5:177521971:TACC:T	donor_loss	1.0000
5:177521972:ACCT:A	donor_loss	1.0000
5:177521973:CCTCA:C	donor_gain	1.0000
5:177521978:CTGAG:C	donor_gain	1.0000
5:177521982:G:C	donor_gain	1.0000
5:177522069:AACCT:A	acceptor_loss	1.0000
5:177522071:CCTGT:C	acceptor_loss	1.0000
5:177522072:C:CA	acceptor_loss	1.0000
5:177522073:T:A	acceptor_loss	1.0000
5:177522081:T:C	acceptor_gain	1.0000
5:177522081:T:TC	acceptor_gain	1.0000
5:177523953:CTAC:C	donor_loss	1.0000
5:177523956:CCT:C	donor_gain	1.0000
5:177524967:T:TA	donor_gain	1.0000
5:177531277:CCCA:C	donor_loss	1.0000
5:177531278:CCACC:C	donor_loss	1.0000
5:177531279:CACC:C	donor_loss	1.0000
5:177531281:C:CT	donor_loss	1.0000
5:177531281:CCTT:C	donor_gain	1.0000
5:177531518:GTGG:G	acceptor_gain	1.0000
5:177531519:TGG:T	acceptor_gain	1.0000
5:177531522:C:CC	acceptor_gain	1.0000
5:177539488:C:A	donor_gain	1.0000
5:177554243:TCCTA:T	donor_loss	1.0000
5:177554244:CCTA:C	donor_loss	1.0000
5:177554245:CTAC:C	donor_loss	1.0000
5:177554246:TA:T	donor_loss	1.0000
5:177554247:ACCT:A	donor_loss	1.0000
5:177554248:C:CT	donor_loss	1.0000
5:177521975:T:TA	donor_gain	0.9900

AlphaMissense

5359 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000112349 (5:177521205 C>T), RS1000136820 (5:177531087 C>T), RS1000389565 (5:177550990 G>A), RS1000498829 (5:177549901 A>G), RS1000549519 (5:177520848 C>A), RS1000657690 (5:177556064 G>A), RS1000695834 (5:177537720 G>A), RS1000822664 (5:177520530 C>T), RS1000901635 (5:177556360 G>A,C), RS1000998514 (5:177525434 C>T), RS1001066164 (5:177520707 G>A), RS1001154434 (5:177519597 A>C), RS1001265649 (5:177555324 A>G), RS1001321239 (5:177553114 G>A,C), RS1001325468 (5:177544711 T>C,G)

Disease associations

OMIM: gene MIM:615813 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005956_15	Waist-to-hip ratio adjusted for BMI	1.000000e-07
GCST005957_13	Waist-to-hip ratio adjusted for BMI (age <50)	3.000000e-07
GCST005962_42	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-08
GCST012488_40	L1-L4 bone mineral density x serum urate levels interaction	2.000000e-06
GCST90000025_512	Appendicular lean mass	1.000000e-17

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004531	urate measurement
EFO:0007701	spine bone mineral density
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
aristolochic acid I	increases expression, decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation, affects cotreatment	1
coumarin	increases phosphorylation	1
1-hydroxypyrene	decreases methylation, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	decreases expression, affects cotreatment	1
Estradiol	decreases expression	1
Ozone	affects expression, increases abundance	1
Quercetin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Serpentine	increases expression	1
Antirheumatic Agents	increases expression	1
Metals, Heavy	affects cotreatment, decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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