FAM162B

Summary

FAM162B (family with sequence similarity 162 member B, HGNC:21549) is a protein-coding gene on chromosome 6q22.1, encoding Protein FAM162B (Q5T6X4).

Predicted to be located in membrane.

Source: NCBI Gene 221303 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 46 total — 1 likely-pathogenic
• MANE Select transcript: NM_001085480

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21549
Approved symbol	FAM162B
Name	family with sequence similarity 162 member B
Location	6q22.1
Locus type	gene with protein product
Status	Approved
Aliases	bA86F4.2
Ensembl gene	ENSG00000183807
Ensembl biotype	protein_coding
Entrez	221303

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000368557, ENST00000864732

RefSeq mRNA: 1 — MANE Select: NM_001085480 NM_001085480

CCDS: CCDS43497

Canonical transcript exons

ENST00000368557 — 4 exons

Exon	Start	End
ENSE00001305172	116761977	116762085
ENSE00001326767	116765147	116765255
ENSE00001447414	116752197	116752695
ENSE00001447415	116765405	116765719

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 95.20.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8158 / max 196.7020, expressed in 505 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75273	0.8317	339
75274	0.6474	305
75272	0.2738	158
75275	0.0629	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.20	gold quality
placenta	UBERON:0001987	91.36	gold quality
lower lobe of lung	UBERON:0008949	86.15	gold quality
right lung	UBERON:0002167	84.30	gold quality
omental fat pad	UBERON:0010414	83.50	gold quality
peritoneum	UBERON:0002358	83.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.41	gold quality
seminal vesicle	UBERON:0000998	83.33	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.23	gold quality
endocervix	UBERON:0000458	82.70	gold quality
subcutaneous adipose tissue	UBERON:0002190	81.99	gold quality
heart right ventricle	UBERON:0002080	81.96	gold quality
visceral pleura	UBERON:0002401	81.50	gold quality
lung	UBERON:0002048	81.46	gold quality
adipose tissue	UBERON:0001013	80.98	gold quality
parotid gland	UBERON:0001831	80.83	gold quality
upper lobe of lung	UBERON:0008948	80.37	gold quality
upper lobe of left lung	UBERON:0008952	80.15	gold quality
right lobe of thyroid gland	UBERON:0001119	79.81	gold quality
skin of hip	UBERON:0001554	78.98	gold quality
left uterine tube	UBERON:0001303	78.84	gold quality
ectocervix	UBERON:0012249	78.15	gold quality
heart left ventricle	UBERON:0002084	77.97	gold quality
cardiac ventricle	UBERON:0002082	77.95	gold quality
left lobe of thyroid gland	UBERON:0001120	77.88	gold quality
tibial nerve	UBERON:0001323	77.81	gold quality
parietal pleura	UBERON:0002400	77.44	gold quality
lower esophagus muscularis layer	UBERON:0035833	77.24	gold quality
lower esophagus	UBERON:0013473	77.21	gold quality
thyroid gland	UBERON:0002046	76.88	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-11	yes	19.56
E-MTAB-2983	no	203.55
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting FAM162B, 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-6740-5P	100.00	65.64	932
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-103A-1-5P	99.39	67.78	1545

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam162a	ENSDARG00000063344
mus_musculus	Fam162b	ENSMUSG00000019909
drosophila_melanogaster	CG9231	FBGN0036887
caenorhabditis_elegans		WBGENE00010879

Paralogs (1): FAM162A (ENSG00000114023)

Protein

Protein identifiers

Protein FAM162B — Q5T6X4 (reviewed: Q5T6X4)

All UniProt accessions (1): Q5T6X4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the UPF0389 family.

RefSeq proteins (1): NP_001078949* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009432	DUF1075	Family

Pfam: PF06388

UniProt features (4 total): chain 1, transmembrane region 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T6X4-F1	61.89	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): GOZGIT_ESR1_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, chr6q22, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MIR561_3P, MIR6799_5P, MIR6501_5P, MIR6740_5P, FAN_EMBRYONIC_CTX_BRAIN_ENDOTHELIAL_2, MANNO_MIDBRAIN_NEUROTYPES_HPERIC, GAO_SMALL_INTESTINE_24W_C9_ENTEROENDOCRINE_CELL, DESCARTES_FETAL_CEREBRUM_VASCULAR_ENDOTHELIAL_CELLS, DESCARTES_FETAL_MUSCLE_SMOOTH_MUSCLE_CELLS, DESCARTES_FETAL_PANCREAS_SMOOTH_MUSCLE_CELLS

GO Biological Process (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

644 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM162B	ARMH1	Q6PIY5	564
FAM162B	TMEM167A	Q8TBQ9	564
FAM162B	HS6ST3	Q8IZP7	544
FAM162B	YPEL5	P62699	542
FAM162B	AKR1E2	Q96JD6	508
FAM162B	C2orf74	A8MZ97	506
FAM162B	ZPLD1	Q8TCW7	495
FAM162B	GALNTL6	Q49A17	492
FAM162B	GPR162	Q16538	491
FAM162B	HIGD1B	Q9P298	488
FAM162B	SIRPD	Q9H106	477
FAM162B	TMEM253	P0C7T8	475
FAM162B	OR2A14	Q96R47	472
FAM162B	TENT5A	Q96IP4	454
FAM162B	USP32	Q8NFA0	452

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GU71, A6QPI4, B2RV13, D4A6L0, E1BBQ2, F1LQY6, G3UW36, O08856, P15382, P53801, P55199, P56182, Q08CB3, Q0VF94, Q148E1, Q17RQ9, Q2KJ58, Q32Q90, Q4R5F9, Q4V8A6, Q4VA36, Q5I0I4, Q5NVI6, Q5R8Q2, Q5T6X4, Q5T848, Q5XII8, Q68EN5, Q6P767, Q8C419, Q8CHT6, Q8R143, Q8R1T1, Q8TBN0, Q8VDV3, Q8WUX9, Q90YH8, Q91WM6, Q91ZP9, Q96IL0

Diamond homologs: A3KP48, A6QPI4, Q29DG0, Q2NKR7, Q4QQV3, Q5R504, Q5T6X4, Q96A26, Q9CX19, Q9D6U8, Q9VW12

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	36
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	Likely pathogenic

SpliceAI

507 predictions. Top by Δscore:

Variant	Effect	Δscore
6:116761975:AC:A	donor_gain	1.0000
6:116761976:CC:C	donor_gain	1.0000
6:116765145:A:AC	donor_gain	1.0000
6:116765146:C:CC	donor_gain	1.0000
6:116752692:CAGC:C	acceptor_gain	0.9900
6:116752694:GCCT:G	acceptor_loss	0.9900
6:116752695:CCTG:C	acceptor_loss	0.9900
6:116752696:C:CG	acceptor_loss	0.9900
6:116752697:T:A	acceptor_loss	0.9900
6:116761970:TAC:T	donor_loss	0.9900
6:116761971:ACT:A	donor_loss	0.9900
6:116761972:CTCAC:C	donor_loss	0.9900
6:116761973:T:TA	donor_loss	0.9900
6:116761974:C:CG	donor_loss	0.9900
6:116761975:A:G	donor_loss	0.9900
6:116761976:C:CG	donor_loss	0.9900
6:116762081:CTGGC:C	acceptor_gain	0.9900
6:116752696:C:CC	acceptor_gain	0.9800
6:116765400:CT:C	donor_loss	0.9800
6:116765402:CA:C	donor_loss	0.9800
6:116765404:C:T	donor_loss	0.9800
6:116765609:T:TA	donor_gain	0.9800
6:116765609:TCCGG:T	donor_gain	0.9800
6:116761973:TCAC:T	donor_gain	0.9700
6:116761974:CACC:C	donor_gain	0.9700
6:116762084:GCC:G	acceptor_loss	0.9700
6:116762086:C:CC	acceptor_gain	0.9700
6:116762086:CTA:C	acceptor_loss	0.9700
6:116764734:T:TA	donor_gain	0.9700
6:116765119:T:A	donor_gain	0.9700

AlphaMissense

1027 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:116765179:G:C	F83L	0.992
6:116765179:G:T	F83L	0.992
6:116765181:A:G	F83L	0.992
6:116762006:A:G	C121R	0.991
6:116762023:C:T	G115E	0.984
6:116765180:A:G	F83S	0.979
6:116761993:A:T	I125K	0.978
6:116762017:G:T	T117K	0.978
6:116762024:C:G	G115R	0.977
6:116762024:C:T	G115R	0.977
6:116762028:C:A	M113I	0.976
6:116762028:C:G	M113I	0.976
6:116762028:C:T	M113I	0.976
6:116762039:A:G	C110R	0.976
6:116762008:G:T	A120D	0.974
6:116762017:G:C	T117R	0.974
6:116752673:A:G	L138S	0.973
6:116762037:A:C	C110W	0.971
6:116765193:A:G	W79R	0.971
6:116765193:A:T	W79R	0.971
6:116762038:C:T	C110Y	0.969
6:116762032:A:T	I112K	0.968
6:116762005:C:T	C121Y	0.966
6:116762053:G:T	A105D	0.965
6:116765191:C:A	W79C	0.965
6:116765191:C:G	W79C	0.965
6:116761999:G:T	A123D	0.964
6:116752648:T:A	K146N	0.963
6:116752648:T:G	K146N	0.963
6:116765198:A:T	L77Q	0.962

dbSNP variants (sampled 300 via entrez): RS1000186147 (6:116756486 T>C), RS1000265029 (6:116766637 C>G), RS1000314428 (6:116754292 T>C), RS1000455825 (6:116753003 G>A), RS1000534481 (6:116754587 TG>T), RS1000545977 (6:116765974 A>T), RS1000649884 (6:116761289 A>C), RS1000847584 (6:116753272 C>A), RS1001192656 (6:116754518 T>A,C), RS1001354793 (6:116767410 T>C), RS1001467500 (6:116758942 T>C), RS1001597682 (6:116761093 C>T), RS1001747272 (6:116759213 G>T), RS1001753302 (6:116755014 C>T), RS1001786771 (6:116760389 A>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:244400

GenCC curated gene-disease

Mondo (1): primary ciliary dyskinesia (MONDO:0016575)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003602_8	Inflammatory bowel disease	5.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

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
Valproic Acid	affects expression, affects cotreatment, increases expression	7
trichostatin A	affects cotreatment, increases expression	3
entinostat	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Nickel	decreases expression	2
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
mercuric bromide	affects cotreatment, increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
clothianidin	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
Decitabine	affects expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Carbamazepine	affects expression	1
Cisplatin	affects expression	1
Estradiol	affects expression	1
Silicon Dioxide	decreases expression	1
Tretinoin	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)