FAM240B

Summary

FAM240B (family with sequence similarity 240 member B, HGNC:53430) is a protein-coding gene on chromosome 9p13.1, encoding Protein FAM240B (A0A1B0GVZ2).

At a glance

• MANE Select transcript: NM_001394922

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53430
Approved symbol	FAM240B
Name	family with sequence similarity 240 member B
Location	9p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283329
Ensembl biotype	protein_coding
Entrez	110806297

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000637493, ENST00000637691

RefSeq mRNA: 2 — MANE Select: NM_001394922 NM_001386811, NM_001394922

CCDS: CCDS94410

Canonical transcript exons

ENST00000637493 — 3 exons

Exon	Start	End
ENSE00003792610	38703857	38704002
ENSE00003793006	38720022	38720133
ENSE00003794929	38694266	38694869

Expression profiles

Bgee: expression breadth broad, 20 present calls, max score 77.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0378 / max 23.1462, expressed in 7 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100778	0.0378	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.70	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.28	gold quality
cortical plate	UBERON:0005343	40.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	39.94	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	38.56	silver quality
lower esophagus mucosa	UBERON:0035834	38.38	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
endocervix	UBERON:0000458	33.52	gold quality
testis	UBERON:0000473	33.19	silver quality
prefrontal cortex	UBERON:0000451	32.70	silver quality
bone marrow	UBERON:0002371	31.74	gold quality
mucosa of stomach	UBERON:0001199	31.71	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
substantia nigra	UBERON:0002038	30.85	silver quality
uterine cervix	UBERON:0000002	30.56	gold quality
muscle of leg	UBERON:0001383	30.36	silver quality
right testis	UBERON:0004534	30.16	silver quality
gastrocnemius	UBERON:0001388	29.96	silver quality
left testis	UBERON:0004533	29.94	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.55	gold quality
Ammon’s horn	UBERON:0001954	29.52	silver quality
gall bladder	UBERON:0002110	29.22	silver quality
lymph node	UBERON:0000029	28.74	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	27.93	gold quality
placenta	UBERON:0001987	27.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam240b	ENSMUSG00000096537
rattus_norvegicus	Fam240b	ENSRNOG00000050209

Paralogs (1): FAM240A (ENSG00000283473)

Protein

Protein identifiers

Protein FAM240B — A0A1B0GVZ2 (reviewed: A0A1B0GVZ2)

All UniProt accessions (1): A0A1B0GVZ2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM240 family.

RefSeq proteins (2): NP_001373740, NP_001381851* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040261	FAM240	Family

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVZ2-F1	83.54	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chr9p13, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, HMGA1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM240B	ANKRD18A	Q8IVF6	571
FAM240B	STK31	Q9BXU1	517
FAM240B	ARK2N	Q96B23	507
FAM240B	DSEL	Q8IZU8	479
FAM240B	TMX3	Q96JJ7	451
FAM240B	TAFA5	Q7Z5A7	434
FAM240B	UBAP2	Q5T6F2	414
FAM240B	TDRD9	Q8NDG6	403
FAM240B	TXNL1	O43396	389
FAM240B	TDRD15	B5MCY1	381
FAM240B	CORIN	Q9Y5Q5	372
FAM240B	ZNG1A	Q9BRT8	320
FAM240B	GREB1	Q4ZG55	315
FAM240B	BRD1	O95696	314
FAM240B	MIER3	Q7Z3K6	274

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVZ2, A1ANL2, A3KGA4, A6X972, A8FCS8, B0C118, B2IUW7, B3DZB3, B4U2P9, B8DCF0, C0H3Q9, C0HJJ3, C1L1X9, C4L552, C6BYN6, D3ZT37, O13916, O34800, O59835, O68946, P0ADX5, P0ADX6, P11191, P13313, P13328, P22385, P25337, P41321, P42320, P56618, P67356, P67357, P71080, Q07927, Q09375, Q0TBK7, Q138N7, Q1R4Z6, Q24475, Q37928

Diamond homologs: A0A1B0GVK7, A0A1B0GVZ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

519 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:38703931:C:A	W23C	0.990
9:38703931:C:G	W23C	0.990
9:38703933:A:G	W23R	0.983
9:38703933:A:T	W23R	0.983
9:38703932:C:G	W23S	0.975
9:38703882:G:T	R40S	0.971
9:38703934:G:C	F22L	0.969
9:38703934:G:T	F22L	0.969
9:38703936:A:G	F22L	0.969
9:38694854:C:A	W53C	0.968
9:38694854:C:G	W53C	0.968
9:38703920:A:G	I27T	0.967
9:38703868:G:C	S44R	0.965
9:38703868:G:T	S44R	0.965
9:38703870:T:G	S44R	0.965
9:38694867:A:G	L49P	0.962
9:38703881:C:G	R40P	0.962
9:38694856:A:G	W53R	0.961
9:38694856:A:T	W53R	0.961
9:38703920:A:C	I27S	0.961
9:38703944:A:T	L19H	0.956
9:38703899:C:G	R34P	0.953
9:38703935:A:G	F22S	0.953
9:38703944:A:G	L19P	0.943
9:38694863:T:A	R50S	0.941
9:38694863:T:G	R50S	0.941
9:38703933:A:C	W23G	0.935
9:38703863:A:G	L46P	0.934
9:38703889:C:A	E37D	0.930
9:38703889:C:G	E37D	0.930

dbSNP variants (sampled 300 via entrez): RS1000046353 (9:38698049 C>T), RS1000056964 (9:38704923 G>C), RS1000126122 (9:38718762 AT>A), RS1000178785 (9:38719008 C>A), RS1000287361 (9:38703903 A>G), RS1000432318 (9:38697818 T>C), RS1000445672 (9:38708458 T>C), RS1000462741 (9:38717665 G>T), RS1000476755 (9:38708709 G>A,C), RS1000514576 (9:38717877 T>C), RS1000535545 (9:38720017 T>C), RS1000588016 (9:38720203 C>G), RS1000677625 (9:38712470 T>C), RS1000740434 (9:38704188 A>G), RS1000748654 (9:38709331 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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