FAM246B

Summary

FAM246B (family with sequence similarity 246 member B, HGNC:54843) is a protein-coding gene on chromosome 22q11.21, encoding Protein FAM246B (A0A494C0N9).

At a glance

• MANE Select transcript: NM_001396026

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:54843
Approved symbol	FAM246B
Name	family with sequence similarity 246 member B
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000286175
Ensembl biotype	protein_coding
Entrez	117134597

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000652395

RefSeq mRNA: 1 — MANE Select: NM_001396026 NM_001396026

CCDS: CCDS93113

Canonical transcript exons

ENST00000652395 — 1 exons

Exon	Start	End
ENSE00003842585	18633984	18634682

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 38.49.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	38.49	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.26	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.93	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
prefrontal cortex	UBERON:0000451	30.76	gold quality
liver	UBERON:0002107	30.48	gold quality
tonsil	UBERON:0002372	30.05	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	28.11	gold quality
frontal cortex	UBERON:0001870	27.66	gold quality
lymph node	UBERON:0000029	27.57	gold quality
blood	UBERON:0000178	27.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	27.45	gold quality
cerebellum	UBERON:0002037	26.97	gold quality
urinary bladder	UBERON:0001255	26.71	gold quality
cerebellar cortex	UBERON:0002129	26.64	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
kidney	UBERON:0002113	26.00	silver quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
cerebellar hemisphere	UBERON:0002245	25.87	gold quality
placenta	UBERON:0001987	25.81	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam246a	ENSMUSG00000116652
rattus_norvegicus	LOC120095536	ENSRNOG00000070676

Paralogs (2): FAM246C (ENSG00000286025), FAM246A (ENSG00000286102)

Protein

Protein identifiers

Protein FAM246B — A0A494C0N9 (reviewed: A0A494C0N9)

All UniProt accessions (1): A0A494C0N9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM246 family.

RefSeq proteins (1): NP_001382955* (*=MANE)

Domains & families (InterPro)

UniProt features (7 total): region of interest 4, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A494C0N9-F1	65.80	0.16

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr22q11

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRK4, A0A1B0GVZ6, A0A1W2PPE3, A0A1W2PR82, A0A2R8Y2Y2, A0A2Z4LIS9, A0A494C0N9, A0A494C0Y3, A5A752, A5PKC7, A6NDZ8, A6NE82, A6NEL2, A6NJ08, A6NJI1, A6QP24, A6QPM6, A8MTW9, A8MXV6, A8MYA2, B1ARW8, O35182, O43541, O75474, O75638, O89113, O94850, P0C7X2, P24097, P50617, P70339, Q02080, Q2KID8, Q2KIS6, Q3UN58, Q5JPB2, Q63003, Q6NZ36, Q6UYE1, Q6ZSJ8

Diamond homologs: A0A494C0N9, A0A494C0Y3, P0DSO1

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

1420 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:18634408:T:C	L142P	0.952
22:18634637:G:C	K218N	0.943
22:18634637:G:T	K218N	0.943
22:18634269:T:C	C96R	0.932
22:18634271:C:G	C96W	0.931
22:18634342:T:C	L120P	0.925
22:18634279:G:A	C99Y	0.924
22:18634278:T:A	C99S	0.917
22:18634279:G:C	C99S	0.917
22:18634269:T:A	C96S	0.915
22:18634270:G:C	C96S	0.915
22:18634270:G:A	C96Y	0.914
22:18634280:C:G	C99W	0.903
22:18634282:G:T	G100V	0.891
22:18634417:A:T	E145V	0.889
22:18634396:T:C	L138P	0.888
22:18634281:G:T	G100W	0.887
22:18634278:T:C	C99R	0.885
22:18634398:C:A	R139S	0.884
22:18634420:T:C	L146P	0.874
22:18634366:G:C	R128P	0.869
22:18634408:T:A	L142H	0.868
22:18634365:C:A	R128S	0.860
22:18634399:G:C	R139P	0.857
22:18634305:T:C	Y108H	0.853
22:18634359:G:C	A126P	0.850
22:18634279:G:T	C99F	0.847
22:18634305:T:G	Y108D	0.847
22:18634387:T:G	I135S	0.847
22:18634334:G:C	E117D	0.846

dbSNP variants (sampled 300 via entrez): RS1001994833 (22:18632556 A>G), RS1005840014 (22:18634937 C>A,T), RS1005872752 (22:18635536 C>T), RS1010405324 (22:18632862 G>C), RS1010438137 (22:18634751 G>A,C), RS1015866650 (22:18635594 C>T), RS1016004157 (22:18634942 A>G), RS1020582944 (22:18632899 C>T), RS1024809535 (22:18635648 G>C), RS1025207830 (22:18635111 G>A), RS1028667290 (22:18634921 T>C), RS1029052170 (22:18633054 C>G), RS1034040942 (22:18635932 C>T), RS1036199319 (22:18632383 G>A), RS1041889418 (22:18634813 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.