FAM167B

Summary

FAM167B (family with sequence similarity 167 member B, HGNC:28133) is a protein-coding gene on chromosome 1p35.2, encoding Protein FAM167B (Q9BTA0).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_032648

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28133
Approved symbol	FAM167B
Name	family with sequence similarity 167 member B
Location	1p35.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC10820, DIORA-2
Ensembl gene	ENSG00000183615
Ensembl biotype	protein_coding
Entrez	84734

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000373582, ENST00000857788

RefSeq mRNA: 1 — MANE Select: NM_032648 NM_032648

CCDS: CCDS358

Canonical transcript exons

ENST00000373582 — 2 exons

Exon	Start	End
ENSE00001650391	32247222	32247682
ENSE00001743279	32248371	32248856

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 89.81.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0095 / max 131.8246, expressed in 533 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1966	1.7233	505
1967	0.1248	52
1969	0.0841	27
1968	0.0774	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	89.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.56	gold quality
apex of heart	UBERON:0002098	87.70	gold quality
right lobe of thyroid gland	UBERON:0001119	86.23	gold quality
metanephros cortex	UBERON:0010533	85.92	gold quality
left ventricle myocardium	UBERON:0006566	85.56	gold quality
right adrenal gland	UBERON:0001233	85.11	gold quality
right adrenal gland cortex	UBERON:0035827	84.45	gold quality
mucosa of transverse colon	UBERON:0004991	84.35	gold quality
left adrenal gland	UBERON:0001234	83.98	gold quality
left adrenal gland cortex	UBERON:0035825	83.94	gold quality
adenohypophysis	UBERON:0002196	83.87	gold quality
adrenal cortex	UBERON:0001235	83.81	gold quality
pituitary gland	UBERON:0000007	83.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	83.65	gold quality
left lobe of thyroid gland	UBERON:0001120	82.96	gold quality
upper lobe of left lung	UBERON:0008952	82.50	gold quality
upper arm skin	UBERON:0004263	82.46	gold quality
thyroid gland	UBERON:0002046	82.14	gold quality
upper lobe of lung	UBERON:0008948	82.07	gold quality
omental fat pad	UBERON:0010414	82.04	gold quality
peritoneum	UBERON:0002358	82.01	gold quality
adult mammalian kidney	UBERON:0000082	81.96	gold quality
endocervix	UBERON:0000458	81.46	gold quality
body of uterus	UBERON:0009853	81.42	gold quality
myometrium	UBERON:0001296	81.10	gold quality
adrenal gland	UBERON:0002369	81.08	gold quality
metanephros	UBERON:0000081	81.03	gold quality
adipose tissue of abdominal region	UBERON:0007808	80.65	gold quality
pericardium	UBERON:0002407	79.44	silver quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	46.01
E-MTAB-10553	yes	45.80
E-HCAD-11	yes	45.45
E-HCAD-10	yes	36.38
E-MTAB-6701	yes	29.29
E-MTAB-8410	yes	20.59
E-HCAD-9	yes	11.81
E-ANND-3	yes	5.44
E-MTAB-6678	no	2.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting FAM167B, 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-5193	100.00	67.26	1744
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-7703	97.64	67.00	965
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-1292-5P	96.74	62.14	238
HSA-MIR-6858-5P	96.05	64.59	1020
HSA-MIR-4471	95.11	66.84	755
HSA-MIR-8059	95.11	66.30	646

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam167b	ENSDARG00000100426
mus_musculus	Fam167b	ENSMUSG00000050493
rattus_norvegicus	Fam167b	ENSRNOG00000049425

Paralogs (3): FAM167A (ENSG00000154319), AARD (ENSG00000205002), C20orf202 (ENSG00000215595)

Protein

Protein identifiers

Protein FAM167B — Q9BTA0 (reviewed: Q9BTA0)

All UniProt accessions (1): Q9BTA0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM167 (SEC) family.

RefSeq proteins (1): NP_116037* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024280	FAM167	Family
IPR051771	FAM167_domain	Family

Pfam: PF11652

UniProt features (2 total): chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BTA0-F1	76.85	0.29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 49 (showing top): MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, chr1p35, HORIUCHI_WTAP_TARGETS_UP, NFE2L2.V2, SUPT16H_TARGET_GENES, TFEB_TARGET_GENES, GSE10239_MEMORY_VS_KLRG1HIGH_EFF_CD8_TCELL_UP, MIR5193, GSE11924_TH2_VS_TH17_CD4_TCELL_UP, MIR7703, MIR4689, MIR6858_5P, GSE17721_CTRL_VS_GARDIQUIMOD_8H_BMDC_UP, GSE17721_PAM3CSK4_VS_CPG_16H_BMDC_UP, GSE12003_MIR223_KO_VS_WT_BM_PROGENITOR_4D_CULTURE_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM167B	FAM124A	Q86V42	566
FAM167B	FHIP2A	Q5W0V3	560
FAM167B	CYTL1	Q9NRR1	518
FAM167B	FCRL6	Q6DN72	481
FAM167B	FAM124B	Q9H5Z6	437
FAM167B	STK33	Q9BYT3	430
FAM167B	EHD3	Q9NZN3	411
FAM167B	SLC35H1	Q9NQQ7	374
FAM167B	WDR86	Q86TI4	370
FAM167B	DTD2	Q96FN9	352
FAM167B	FHIP2B	Q86V87	336
FAM167B	ZFYVE19	Q96K21	324
FAM167B	PNMA8A	Q86V59	323
FAM167B	FAM184A	Q8NB25	323
FAM167B	LRRC14	Q15048	307

IntAct

113 interactions, top by confidence:

A	B	Type	Score
FAM167B	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
MAGI2	FAM167B	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	TJP2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
LNX1	FAM167B	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	RADIL	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	HTRA2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD2	FAM167B	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.440
FAM167B	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440

ESM2 similar proteins: A1L168, A1L3T7, A6NGS2, A6QQF7, D4A8G3, O15049, P0C7N2, P0C7N4, P17257, P58660, Q08AY9, Q0V7M8, Q0VDN7, Q14BJ1, Q2NL23, Q3KP66, Q3LUD3, Q3UNU4, Q4LEZ3, Q566R4, Q571B6, Q5BJW5, Q5ND29, Q5RFZ7, Q5XIS1, Q6NSJ2, Q6P1G6, Q6Q0N2, Q7TN12, Q7TSI1, Q811W1, Q8BL43, Q8C7U1, Q8IV03, Q8K1S6, Q8K2P1, Q8N137, Q8N5H3, Q8TE77, Q8WWL2

Diamond homologs: P17257, Q0V7M8, Q5RFZ7, Q6P1G6, Q96KS9, Q9BTA0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	59.5×	7e-07
Unblocking of NMDA receptors, glutamate binding and activation	5	56.6×	7e-07
Negative regulation of NMDA receptor-mediated neuronal transmission	5	56.6×	7e-07
Assembly and cell surface presentation of NMDA receptors	10	52.9×	2e-13
Dopamine Neurotransmitter Release Cycle	5	51.7×	1e-06
Long-term potentiation	5	49.6×	1e-06
Neurexins and neuroligins	11	45.1×	8e-14
Protein-protein interactions at synapses	7	38.7×	3e-08

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	91.3×	4e-17
protein localization to synapse	6	65.7×	3e-08
receptor clustering	7	62.4×	3e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	7	49.6×	1e-08
protein-containing complex assembly	9	14.6×	6e-07
cell-cell adhesion	10	14.5×	1e-07
protein localization to plasma membrane	5	7.8×	7e-03
chemical synaptic transmission	7	7.7×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

170 predictions. Top by Δscore:

Variant	Effect	Δscore
1:32247679:GCTG:G	donor_gain	0.9900
1:32247681:TGGTG:T	donor_loss	0.9900
1:32247683:GTG:G	donor_loss	0.9900
1:32247684:T:G	donor_loss	0.9900
1:32248369:A:AG	acceptor_gain	0.9900
1:32248369:AGCG:A	acceptor_gain	0.9900
1:32248370:G:GG	acceptor_gain	0.9900
1:32248370:GCGG:G	acceptor_gain	0.9900
1:32247683:G:GG	donor_gain	0.9800
1:32248369:AGC:A	acceptor_gain	0.9800
1:32248370:GC:G	acceptor_gain	0.9800
1:32248370:GCG:G	acceptor_gain	0.9800
1:32247685:GA:G	donor_loss	0.9700
1:32248369:AGCGG:A	acceptor_gain	0.9600
1:32248370:GCGGG:G	acceptor_gain	0.9600
1:32248372:G:A	acceptor_gain	0.9600
1:32248366:C:A	acceptor_gain	0.9500
1:32248366:CGCA:C	acceptor_loss	0.9400
1:32248367:GCA:G	acceptor_loss	0.9400
1:32248368:CA:C	acceptor_loss	0.9400
1:32248369:AG:A	acceptor_loss	0.9400
1:32248370:G:A	acceptor_loss	0.9400
1:32248371:CGGG:C	acceptor_gain	0.9400
1:32247570:TCCA:T	donor_gain	0.9100
1:32248371:C:CA	acceptor_gain	0.9100
1:32247680:CTG:C	donor_gain	0.9000
1:32247681:TG:T	donor_gain	0.9000
1:32247682:GG:G	donor_gain	0.9000
1:32248364:GCCGC:G	acceptor_loss	0.9000
1:32248362:C:A	acceptor_gain	0.8800

AlphaMissense

1026 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:32248587:T:C	F160L	0.976
1:32248589:C:A	F160L	0.976
1:32248589:C:G	F160L	0.976
1:32247638:T:C	F73L	0.956
1:32247640:C:A	F73L	0.956
1:32247640:C:G	F73L	0.956
1:32247559:G:C	W46C	0.943
1:32247559:G:T	W46C	0.943
1:32248571:C:A	N154K	0.942
1:32248571:C:G	N154K	0.942
1:32248588:T:C	F160S	0.940
1:32247557:T:A	W46R	0.925
1:32247557:T:C	W46R	0.925
1:32247505:G:C	K28N	0.920
1:32247505:G:T	K28N	0.920
1:32248573:T:C	I155T	0.906
1:32248568:G:A	M153I	0.899
1:32248568:G:C	M153I	0.899
1:32248568:G:T	M153I	0.899
1:32248570:A:T	N154I	0.897
1:32248445:G:C	K112N	0.887
1:32248445:G:T	K112N	0.887
1:32248573:T:A	I155N	0.878
1:32248567:T:C	M153T	0.874
1:32248569:A:G	N154D	0.874
1:32248588:T:G	F160C	0.874
1:32247681:T:C	L87P	0.873
1:32248573:T:G	I155S	0.872
1:32247669:T:C	L83P	0.870
1:32248411:T:C	L101P	0.854

dbSNP variants (sampled 300 via entrez): RS1000352411 (1:32245943 TTTATTTAC>T,TTTATTTACTTATTTAC), RS1000383488 (1:32246330 C>T), RS1001098526 (1:32246701 A>G), RS1001352826 (1:32247270 C>T), RS1001462083 (1:32248305 A>G), RS1001530140 (1:32247032 C>G), RS1001831129 (1:32248035 G>T), RS1003686192 (1:32248660 C>A), RS1003718715 (1:32248885 G>C), RS1003861704 (1:32245668 A>C), RS1004904125 (1:32245264 G>T), RS1005943286 (1:32249152 C>A,T), RS1006019147 (1:32247710 C>A), RS1006622281 (1:32246927 G>A,T), RS1007167340 (1:32248284 G>A)

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

1 associations (top):

Study	Trait	p-value
GCST009597_83	Multiple sclerosis	7.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	affects methylation	1
butyraldehyde	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Methotrexate	decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1

Clinical trials (associated diseases)

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