FAM163B

Summary

FAM163B (family with sequence similarity 163 member B, HGNC:33277) is a protein-coding gene on chromosome 9q34.2, encoding Protein FAM163B (P0C2L3).

Predicted to be located in membrane.

Source: NCBI Gene 642968 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 42 total — 1 pathogenic
• MANE Select transcript: NM_001080515

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33277
Approved symbol	FAM163B
Name	family with sequence similarity 163 member B
Location	9q34.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000196990
Ensembl biotype	protein_coding
Entrez	642968

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000496132, ENST00000673969, ENST00000886828, ENST00000886829, ENST00000886830, ENST00000886831, ENST00000886832, ENST00000886833, ENST00000915584

RefSeq mRNA: 2 — MANE Select: NM_001080515 NM_001080515, NM_001371529

CCDS: CCDS35171

Canonical transcript exons

ENST00000673969 — 3 exons

Exon	Start	End
ENSE00001727865	133580131	133580246
ENSE00001897036	133577081	133579429
ENSE00003897148	133609077	133609389

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 95.20.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1843 / max 187.6555, expressed in 210 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103022	2.0804	204
103021	0.0751	36
205652	0.0288	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	95.20	gold quality
anterior cingulate cortex	UBERON:0009835	94.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.43	gold quality
prefrontal cortex	UBERON:0000451	94.41	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.75	gold quality
frontal cortex	UBERON:0001870	90.45	gold quality
neocortex	UBERON:0001950	90.33	gold quality
cerebral cortex	UBERON:0000956	86.63	gold quality
cortical plate	UBERON:0005343	86.11	gold quality
amygdala	UBERON:0001876	85.91	gold quality
primary visual cortex	UBERON:0002436	82.13	gold quality
temporal lobe	UBERON:0001871	79.96	gold quality
hypothalamus	UBERON:0001898	79.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.37	gold quality
forebrain	UBERON:0001890	77.90	gold quality
cerebellar hemisphere	UBERON:0002245	77.46	gold quality
cerebellar cortex	UBERON:0002129	77.41	gold quality
occipital lobe	UBERON:0002021	77.23	gold quality
brain	UBERON:0000955	77.04	gold quality
superior frontal gyrus	UBERON:0002661	76.65	gold quality
Ammon’s horn	UBERON:0001954	76.33	gold quality
cerebellum	UBERON:0002037	75.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.13	gold quality
right lobe of liver	UBERON:0001114	75.06	gold quality
Brodmann (1909) area 46	UBERON:0006483	74.23	gold quality
caudate nucleus	UBERON:0001873	74.01	gold quality
putamen	UBERON:0001874	73.19	gold quality
right atrium auricular region	UBERON:0006631	73.07	gold quality
nucleus accumbens	UBERON:0001882	72.80	gold quality
entorhinal cortex	UBERON:0002728	72.30	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting FAM163B, 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-6867-5P	100.00	82.21	3464
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-124-5P	98.11	67.65	1095
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-4329	97.68	66.26	1003
HSA-MIR-6851-3P	95.73	65.11	688
HSA-MIR-193A-5P	95.70	65.33	613

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam163ba	ENSDARG00000073914
danio_rerio	FAM163B	ENSDARG00000107989
mus_musculus	Fam163b	ENSMUSG00000009216
rattus_norvegicus	Fam163b	ENSRNOG00000065438

Protein

Protein identifiers

Protein FAM163B — P0C2L3 (reviewed: P0C2L3)

All UniProt accessions (1): P0C2L3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the FAM163 family.

RefSeq proteins (2): NP_001073984, NP_001358458 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029379	FAM163	Family
IPR040280	FAM163B	Family

Pfam: PF15069

UniProt features (3 total): chain 1, transmembrane region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C2L3-F1	57.19	0.11

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 (1): 40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 30 (showing top): GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, chr9q34, HAND1_TARGET_GENES, MIR6867_5P, MIR4306, MIR4644, MIR185_5P, MIR8085, MIR6731_5P, MIR1227_5P, GSE13306_RA_VS_UNTREATED_TCONV_DN, GSE14308_TH1_VS_NAIVE_CD4_TCELL_DN

GO Biological Process (0):

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1066 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM163B	ZC2HC1B	Q5TFG8	735
FAM163B	SEC22C	Q9BRL7	645
FAM163B	ZDHHC22	Q8N966	624
FAM163B	CHRNB3	Q05901	520
FAM163B	SARDH	Q9UL12	512
FAM163B	VWC2L	B2RUY7	506
FAM163B	CACFD1	Q9UGQ2	493
FAM163B	LRRTM2	O43300	465
FAM163B	GTF3C5	Q9Y5Q8	403
FAM163B	CHRNB4	P30926	399
FAM163B	HYKK	A2RU49	399
FAM163B	CHRNA3	P32297	393
FAM163B	ARHGAP36	Q6ZRI8	391
FAM163B	MEGF6	O75095	384
FAM163B	CHRNA5	P30532	368
FAM163B	ADAMTSL2	Q86TH1	368

IntAct

13 interactions, top by confidence:

A	B	Type	Score
DLG1	FAM163B	psi-mi:“MI:0915”(physical association)	0.610
DLG1	FAM163B	psi-mi:“MI:0407”(direct interaction)	0.610
FAM163B	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
SCRIB	FAM163B	psi-mi:“MI:0407”(direct interaction)	0.440
DLG3	FAM163B	psi-mi:“MI:0407”(direct interaction)	0.440
FAM163B	TSPY2	psi-mi:“MI:0914”(association)	0.350
FAM163B	SPAG9	psi-mi:“MI:0914”(association)	0.350
UBQLN1	FAM163B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): FAM163B (Two-hybrid), IDE (Affinity Capture-MS), PPP3CB (Affinity Capture-MS), PLXNC1 (Affinity Capture-MS), CAMK2G (Affinity Capture-MS), TSPY2 (Affinity Capture-MS), CAMK2D (Affinity Capture-MS), CAMK2B (Affinity Capture-MS), DPP9 (Affinity Capture-MS), C9orf64 (Affinity Capture-MS), PPP3R1 (Affinity Capture-MS), PPP3CC (Affinity Capture-MS), PPP3CA (Affinity Capture-MS), CCNB2 (Affinity Capture-MS), FKBP10 (Affinity Capture-MS)

ESM2 similar proteins: A4IG66, A5PLA0, A9ZLX4, D3Z1Q2, D3ZZP4, D5K8A9, F1M2Z5, O14525, P0C2L3, P0DKX4, Q08DP3, Q08EA8, Q13145, Q1LVN1, Q1RMT2, Q2F7Z7, Q3MHM8, Q3T0Q2, Q3URD2, Q4R8C8, Q502I1, Q58CU5, Q5BJN9, Q5R800, Q5RA41, Q5XJS0, Q5ZKK0, Q61137, Q6GM22, Q6PBK8, Q8BPM6, Q8C4Q9, Q8HYZ0, Q8IUW5, Q8K2J7, Q8N4K4, Q8N6S5, Q8NEA5, Q91XN4, Q96G30

Diamond homologs: P0C2L3, Q0VFM5, Q8BUM6, Q8CAA5, Q96GL9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	41
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	Pathogenic

SpliceAI

361 predictions. Top by Δscore:

Variant	Effect	Δscore
9:133579425:TAGTA:T	acceptor_gain	0.9900
9:133579428:TA:T	acceptor_gain	0.9900
9:133579430:C:CC	acceptor_gain	0.9900
9:133580125:GAATA:G	donor_loss	0.9900
9:133580126:AATAC:A	donor_loss	0.9900
9:133580127:ATACC:A	donor_loss	0.9900
9:133580128:TAC:T	donor_loss	0.9900
9:133580129:ACCTG:A	donor_loss	0.9900
9:133580130:C:CA	donor_loss	0.9900
9:133580243:CAGC:C	acceptor_gain	0.9900
9:133586043:T:TA	donor_gain	0.9900
9:133579276:T:TA	donor_gain	0.9800
9:133579426:AGTA:A	acceptor_gain	0.9800
9:133579427:GTA:G	acceptor_gain	0.9800
9:133579430:C:G	acceptor_loss	0.9800
9:133579431:T:G	acceptor_loss	0.9800
9:133580245:GCC:G	acceptor_loss	0.9800
9:133580246:CCT:C	acceptor_loss	0.9800
9:133580247:C:A	acceptor_loss	0.9800
9:133580247:C:CC	acceptor_gain	0.9800
9:133580248:T:TC	acceptor_loss	0.9800
9:133580249:G:C	acceptor_loss	0.9800
9:133580250:CAACA:C	acceptor_loss	0.9800
9:133585970:CATTA:C	donor_loss	0.9500
9:133585971:ATTAC:A	donor_loss	0.9500
9:133585972:TTAC:T	donor_loss	0.9500
9:133585973:TA:T	donor_loss	0.9500
9:133585974:A:G	donor_loss	0.9500
9:133585975:CCTG:C	donor_loss	0.9500
9:133585999:T:TA	donor_gain	0.9500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000044843 (9:133596122 G>A), RS1000143439 (9:133583399 A>C), RS1000208791 (9:133602608 T>G), RS1000212374 (9:133582037 C>G), RS1000315124 (9:133603156 A>G), RS1000350481 (9:133578445 C>T), RS1000387669 (9:133608175 G>A,T), RS1000457629 (9:133609872 G>A,T), RS1000620049 (9:133604210 A>G), RS1000685283 (9:133602877 C>T), RS1000689466 (9:133579290 G>A,T), RS1000707403 (9:133605833 C>A), RS1000912056 (9:133588237 G>A), RS1000948274 (9:133603907 T>C), RS1001299240 (9:133600086 T>C)

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

4 associations (top):

Study	Trait	p-value
GCST011701_2	Smoking status (current vs mixed)	1.000000e-10
GCST011702_12	Smoking cessation	1.000000e-27
GCST011704_10	Smoking status (current vs never)	2.000000e-11
GCST011754_4	Nicotine dependence	2.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006527	smoking status measurement
EFO:0004319	smoking cessation

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation	2
ethyl-p-hydroxybenzoate	decreases expression	1
ferrous chloride	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	decreases methylation	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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