FAM171B

Summary

FAM171B (family with sequence similarity 171 member B, HGNC:29412) is a protein-coding gene on chromosome 2q32.1, encoding Protein FAM171B (Q6P995).

Predicted to be located in membrane. Predicted to be active in synapse.

Source: NCBI Gene 165215 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 102 total
• MANE Select transcript: NM_177454

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29412
Approved symbol	FAM171B
Name	family with sequence similarity 171 member B
Location	2q32.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34104
Ensembl gene	ENSG00000144369
Ensembl biotype	protein_coding
OMIM	620309
Entrez	165215

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000304698, ENST00000909200

RefSeq mRNA: 1 — MANE Select: NM_177454 NM_177454

CCDS: CCDS33347

Canonical transcript exons

ENST00000304698 — 8 exons

Exon	Start	End
ENSE00001070629	186743483	186743575
ENSE00001130256	186751134	186751304
ENSE00001130268	186740228	186740461
ENSE00001178466	186747092	186747250
ENSE00001242194	186761113	186761236
ENSE00001242200	186753933	186754049
ENSE00001348842	186761479	186765959
ENSE00001845414	186694060	186694411

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 99.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7476 / max 263.4470, expressed in 1415 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24132	11.0162	1398
24133	0.3358	145
24140	0.2022	81
24142	0.0840	31
24141	0.0665	26
24131	0.0430	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
entorhinal cortex	UBERON:0002728	99.05	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.79	gold quality
endothelial cell	CL:0000115	98.68	gold quality
postcentral gyrus	UBERON:0002581	98.48	gold quality
parietal lobe	UBERON:0001872	98.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.33	gold quality
lateral globus pallidus	UBERON:0002476	98.27	gold quality
superior frontal gyrus	UBERON:0002661	98.24	gold quality
medulla oblongata	UBERON:0001896	96.50	gold quality
cortical plate	UBERON:0005343	96.45	gold quality
cerebellar vermis	UBERON:0004720	96.38	gold quality
superior vestibular nucleus	UBERON:0007227	96.34	gold quality
substantia nigra pars compacta	UBERON:0001965	96.13	gold quality
parotid gland	UBERON:0001831	96.08	gold quality
occipital lobe	UBERON:0002021	95.96	gold quality
globus pallidus	UBERON:0001875	95.86	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.74	gold quality
ventricular zone	UBERON:0003053	95.74	gold quality
temporal lobe	UBERON:0001871	95.70	gold quality
middle temporal gyrus	UBERON:0002771	95.65	gold quality
dorsal plus ventral thalamus	UBERON:0001897	95.56	gold quality
medial globus pallidus	UBERON:0002477	95.38	gold quality
corpus callosum	UBERON:0002336	95.36	gold quality
subthalamic nucleus	UBERON:0001906	95.24	gold quality
primary visual cortex	UBERON:0002436	95.23	gold quality
dorsal root ganglion	UBERON:0000044	95.10	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.08	gold quality
nucleus accumbens	UBERON:0001882	94.52	gold quality
caudate nucleus	UBERON:0001873	94.48	gold quality
ventral tegmental area	UBERON:0002691	94.40	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	1465.67
E-CURD-11	yes	740.78
E-MTAB-7316	yes	31.16
E-ANND-3	yes	16.11
E-GEOD-84465	yes	13.83
E-GEOD-137537	yes	12.80
E-ENAD-27	yes	10.86
E-MTAB-5061	yes	5.66
E-GEOD-75140	no	2103.26
E-GEOD-110499	no	1449.51
E-MTAB-6678	no	517.79
E-GEOD-109979	no	413.09
E-MTAB-7303	no	368.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting FAM171B, 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-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
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-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-576-5P	99.84	70.46	2582

Literature-anchored findings (GeneRIF, showing 3)

• FAM171B expression is up-regulated in oxaliplatin-resistant colorectal cancer cell line. Transfection of miR-483-3p mimics markedly decreases the levels of FAM171B and restores oxaliplatin responsiveness, and this alteration enhances cell apoptosis and weakens cell migration. Knockdown of FAM171B in oxaliplatin-resistant colorectal cancer cell line sensitizes its reaction of the treatment with oxaliplatin. (PMID:30861353)
• FAM171B is a novel polyglutamine protein widely expressed in the mammalian brain. (PMID:34052262)
• FAM171B stabilizes vimentin and enhances CCL2-mediated TAM infiltration to promote bladder cancer progression. (PMID:37915048)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam171b	ENSDARG00000096271
mus_musculus	Fam171b	ENSMUSG00000048388
rattus_norvegicus	Fam171b	ENSRNOG00000004783

Paralogs (2): FAM171A1 (ENSG00000148468), FAM171A2 (ENSG00000161682)

Protein

Protein identifiers

Protein FAM171B — Q6P995 (reviewed: Q6P995)

All UniProt accessions (1): Q6P995

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasmic granule. Membrane.

Similarity. Belongs to the FAM171 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P995-1	1	yes
Q6P995-2	2

RefSeq proteins (1): NP_803237* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018890	FAM171	Family
IPR048530	FAM171_N	Domain
IPR049175	FAM171_C	Domain

Pfam: PF10577, PF20771

UniProt features (25 total): compositionally biased region 4, glycosylation site 4, sequence conflict 4, region of interest 4, splice variant 2, topological domain 2, signal peptide 1, chain 1, modified residue 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P995-F1	56.98	0.17

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): 794

Glycosylation sites (4): 108, 113, 213, 268

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_DN, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, LIAO_METASTASIS, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GCM_MAPK10, NUYTTEN_EZH2_TARGETS_DN, GOCC_SYNAPSE, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, LIN_SILENCED_BY_TUMOR_MICROENVIRONMENT, CHICAS_RB1_TARGETS_CONFLUENT, DUTERTRE_ESTRADIOL_RESPONSE_6HR_DN, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): membrane (GO:0016020), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

540 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM171B	OR4L1	Q8NH43	508
FAM171B	NWD2	Q9ULI1	492
FAM171B	H2AP	O75409	481
FAM171B	FAM187B	Q17R55	479
FAM171B	TMEM278	A6NKF7	445
FAM171B	RPRD2	Q5VT52	443
FAM171B	IGFL4	Q6B9Z1	432
FAM171B	ENTREP2	O60320	430
FAM171B	FRG2B	Q96QU4	430
FAM171B	PKIG	Q9Y2B9	428
FAM171B	TMEM145	Q8NBT3	427
FAM171B	XKRX	Q6PP77	419
FAM171B	DMTN	Q08495	408
FAM171B	TMEM179	Q6ZVK1	402
FAM171B	FAM81A	Q8TBF8	401

IntAct

14 interactions, top by confidence:

A	B	Type	Score
PHKG2	PRKAB2	psi-mi:“MI:0914”(association)	0.640
FAM171B	FAM171A2	psi-mi:“MI:0914”(association)	0.530
CAMK2D	FAM171B	psi-mi:“MI:0915”(physical association)	0.370
FAM171B	MPP3	psi-mi:“MI:0915”(physical association)	0.370
P		psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
TMEM17	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CTDSPL	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
NTRK2	ARHGAP32	psi-mi:“MI:2364”(proximity)	0.270
STT3B	TACC1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (70): FAM171B (Proximity Label-MS), FAM171B (Proximity Label-MS), FAM171B (Proximity Label-MS), FAM171A1 (Affinity Capture-MS), FAM171A2 (Affinity Capture-MS), C4A (Affinity Capture-MS), FGFR2 (Affinity Capture-MS), BMPR1A (Affinity Capture-MS), STX6 (Affinity Capture-MS), FAM171B (Affinity Capture-MS), MFAP3 (Affinity Capture-MS), MIB1 (Affinity Capture-MS), FAM171B (Proximity Label-MS), FAM171B (Proximity Label-MS), FAM171B (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GVS7, A2CE83, A2VDU1, A5D992, A8KBE0, O43597, O43609, O43610, P28290, Q02223, Q08AD1, Q08E39, Q14CH0, Q1L0X2, Q2PFN5, Q2TBG9, Q3UUD2, Q4R815, Q5R959, Q5RGQ8, Q5TB30, Q66H35, Q6AYK4, Q6DD45, Q6GPM0, Q6NRB7, Q6P995, Q6PEM6, Q6ZUJ8, Q7ZX27, Q866R9, Q86VY9, Q8BGN6, Q8C3K5, Q8C817, Q8IYD9, Q8N957, Q96HH4, Q9BZD6, Q9C004

Diamond homologs: A1L3I3, Q14CH0, Q5RD34, Q5RJX2, Q5VUB5, Q6P995, A2A699, A8MVW0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1335 predictions. Top by Δscore:

Variant	Effect	Δscore
2:186740226:A:AG	acceptor_gain	1.0000
2:186740227:G:GG	acceptor_gain	1.0000
2:186740227:GT:G	acceptor_gain	1.0000
2:186740457:GCCAA:G	donor_gain	1.0000
2:186740461:AG:A	donor_loss	1.0000
2:186740462:G:GG	donor_gain	1.0000
2:186743481:A:AG	acceptor_gain	1.0000
2:186743482:G:GG	acceptor_gain	1.0000
2:186747088:CCAG:C	acceptor_loss	1.0000
2:186747089:CA:C	acceptor_loss	1.0000
2:186747090:A:AG	acceptor_gain	1.0000
2:186747090:A:AT	acceptor_loss	1.0000
2:186747091:G:GA	acceptor_gain	1.0000
2:186747091:GAT:G	acceptor_gain	1.0000
2:186747248:CAGG:C	donor_loss	1.0000
2:186747249:AG:A	donor_loss	1.0000
2:186747250:GGTA:G	donor_loss	1.0000
2:186747251:G:C	donor_loss	1.0000
2:186747252:T:G	donor_loss	1.0000
2:186748377:G:GT	donor_gain	1.0000
2:186748380:A:AG	donor_gain	1.0000
2:186748380:A:G	donor_gain	1.0000
2:186751128:TTATA:T	acceptor_loss	1.0000
2:186751129:TATAG:T	acceptor_loss	1.0000
2:186751130:A:AG	acceptor_gain	1.0000
2:186751130:ATAG:A	acceptor_gain	1.0000
2:186751130:ATAGG:A	acceptor_loss	1.0000
2:186751131:T:G	acceptor_gain	1.0000
2:186751131:TAGGT:T	acceptor_loss	1.0000
2:186751132:A:AG	acceptor_gain	1.0000

AlphaMissense

5392 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:186762452:A:C	S704R	0.999
2:186762454:T:A	S704R	0.999
2:186762454:T:G	S704R	0.999
2:186762359:T:A	W673R	0.998
2:186762359:T:C	W673R	0.998
2:186762362:T:C	F674L	0.998
2:186762364:T:A	F674L	0.998
2:186762364:T:G	F674L	0.998
2:186762240:T:A	V633D	0.997
2:186762363:T:C	F674S	0.997
2:186762465:G:A	G708E	0.997
2:186753989:T:A	W318R	0.996
2:186753989:T:C	W318R	0.996
2:186762459:A:T	D706V	0.996
2:186762464:G:T	G708W	0.996
2:186762252:T:C	L637P	0.995
2:186762363:T:G	F674C	0.995
2:186762459:A:C	D706A	0.995
2:186762459:A:G	D706G	0.995
2:186762461:T:C	S707P	0.995
2:186762464:G:A	G708R	0.995
2:186762464:G:C	G708R	0.995
2:186740249:T:A	V87D	0.994
2:186762456:T:C	L705P	0.994
2:186762458:G:C	D706H	0.994
2:186762460:C:A	D706E	0.994
2:186762460:C:G	D706E	0.994
2:186762462:C:T	S707F	0.994
2:186743552:T:A	V181D	0.993
2:186747179:T:C	L218P	0.993

dbSNP variants (sampled 300 via entrez): RS1000076747 (2:186727036 T>C), RS1000124305 (2:186732309 A>G), RS1000218107 (2:186732016 C>T), RS1000251620 (2:186710281 G>A,T), RS1000379445 (2:186731602 C>T), RS1000406852 (2:186738245 G>A), RS1000457732 (2:186730674 A>G), RS1000463015 (2:186717320 G>A), RS1000514932 (2:186725243 C>T), RS1000550763 (2:186730401 A>G), RS1000672451 (2:186736607 A>G), RS1000738861 (2:186738012 G>A), RS1000755990 (2:186752093 C>A,T), RS1000859519 (2:186742747 A>G), RS1000871791 (2:186696855 T>C)

Disease associations

OMIM: gene MIM:620309 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003253_8	Microalbuminuria	1.000000e-06
GCST003254_7	Urinary albumin-to-creatinine ratio in non-diabetics	4.000000e-06
GCST003255_5	Urinary albumin-to-creatinine ratio	8.000000e-07
GCST004131_3	Inflammatory bowel disease	1.000000e-08
GCST004132_87	Crohn’s disease	8.000000e-07
GCST006585_1082	Blood protein levels	3.000000e-13
GCST006585_2208	Blood protein levels	1.000000e-41

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007778	urinary albumin to creatinine ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	4
trichostatin A	affects cotreatment, decreases expression	3
Estradiol	affects cotreatment, increases expression, decreases expression	3
sodium arsenite	increases expression	2
(+)-JQ1 compound	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
OTX015	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
mivebresib	increases expression	1
bisphenol A	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	decreases expression	1
potassium chromate(VI)	increases expression	1
nickel sulfate	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Zoledronic Acid	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression, affects cotreatment	1
Coumestrol	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	decreases expression	1
Hydrogen Peroxide	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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