FAM174B
gene geneOn this page
Also known as LOC400451MGC102891
Summary
FAM174B (family with sequence similarity 174 member B, HGNC:34339) is a protein-coding gene on chromosome 15q26.1, encoding Membrane protein FAM174B (Q3ZCQ3). Essential for Golgi structural integrity.
Involved in Golgi organization. Located in Golgi apparatus and plasma membrane.
Source: NCBI Gene 400451 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 26 total
- Cancer driver (intOGen): activating (oncogene-like) across 3 cancer types
- MANE Select transcript:
NM_207446
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:34339 |
| Approved symbol | FAM174B |
| Name | family with sequence similarity 174 member B |
| Location | 15q26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LOC400451, MGC102891 |
| Ensembl gene | ENSG00000185442 |
| Ensembl biotype | protein_coding |
| Entrez | 400451 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000327355, ENST00000553393, ENST00000554082, ENST00000555064, ENST00000555613, ENST00000555696, ENST00000555748, ENST00000555971, ENST00000556824, ENST00000557398, ENST00000557480, ENST00000557545, ENST00000896008
RefSeq mRNA: 1 — MANE Select: NM_207446
NM_207446
CCDS: CCDS45355
Canonical transcript exons
ENST00000327355 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001314585 | 92655316 | 92655775 |
| ENSE00002532558 | 92617448 | 92619459 |
| ENSE00003459935 | 92630214 | 92630345 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 95.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7188 / max 191.1658, expressed in 1196 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151626 | 9.9471 | 1149 |
| 151627 | 0.2888 | 162 |
| 151640 | 0.2883 | 151 |
| 151625 | 0.1946 | 106 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 95.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.50 | gold quality |
| pancreas | UBERON:0001264 | 94.26 | gold quality |
| pancreatic ductal cell | CL:0002079 | 93.50 | gold quality |
| parotid gland | UBERON:0001831 | 93.27 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 92.11 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.44 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.23 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.21 | gold quality |
| thyroid gland | UBERON:0002046 | 90.94 | gold quality |
| body of stomach | UBERON:0001161 | 89.51 | gold quality |
| right lung | UBERON:0002167 | 89.47 | gold quality |
| stomach | UBERON:0000945 | 88.30 | gold quality |
| pituitary gland | UBERON:0000007 | 88.29 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.17 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 88.02 | gold quality |
| prostate gland | UBERON:0002367 | 87.84 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 87.58 | gold quality |
| secondary oocyte | CL:0000655 | 87.37 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.21 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.13 | gold quality |
| endothelial cell | CL:0000115 | 87.09 | silver quality |
| upper lobe of lung | UBERON:0008948 | 86.97 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.78 | gold quality |
| oocyte | CL:0000023 | 86.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.36 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 86.34 | gold quality |
| rectum | UBERON:0001052 | 86.25 | gold quality |
| right uterine tube | UBERON:0001302 | 85.92 | gold quality |
| right testis | UBERON:0004534 | 85.00 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-83139 | yes | 3.86 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR
miRNA regulators (miRDB)
94 targeting FAM174B, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam174b | ENSDARG00000068709 |
| mus_musculus | Fam174b | ENSMUSG00000078670 |
| rattus_norvegicus | Fam174b | ENSRNOG00000012369 |
Protein
Protein identifiers
Membrane protein FAM174B — Q3ZCQ3 (reviewed: Q3ZCQ3)
All UniProt accessions (6): G3V5D1, H3BP98, H3BPY1, H3BR69, H3BTJ4, Q3ZCQ3
UniProt curated annotations — full annotation on UniProt →
Function. Essential for Golgi structural integrity.
Subcellular location. Cell membrane. Golgi apparatus.
Induction. Up-regulated by Golgi stress-inducing agent nigericin.
Similarity. Belongs to the FAM174 family.
RefSeq proteins (1): NP_997329* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009565 | FAM174-like | Family |
Pfam: PF06679
UniProt features (11 total): sequence conflict 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1, glycosylation site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3ZCQ3-F1 | 63.88 | 0.06 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 53
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 132 (showing top):
YANG_BREAST_CANCER_ESR1_BULK_UP, ZHAN_MULTIPLE_MYELOMA_MF_UP, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GTGCCTT_MIR506, ONKEN_UVEAL_MELANOMA_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, WANG_TARGETS_OF_MLL_CBP_FUSION_UP, CUI_TCF21_TARGETS_2_DN, HAN_SATB1_TARGETS_DN, PARENT_MTOR_SIGNALING_UP, GOBP_GOLGI_ORGANIZATION, CAIRO_LIVER_DEVELOPMENT_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, DOANE_BREAST_CANCER_CLASSES_UP
GO Biological Process (1): Golgi organization (GO:0007030)
GO Molecular Function (0):
GO Cellular Component (3): Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| organelle organization | 1 |
| endomembrane system organization | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
534 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM174B | LYSMD4 | Q5XG99 | 574 |
| FAM174B | ST8SIA2 | Q92186 | 523 |
| FAM174B | FAM124B | Q9H5Z6 | 518 |
| FAM174B | LYSMD3 | Q7Z3D4 | 496 |
| FAM174B | SCAMP4 | Q969E2 | 477 |
| FAM174B | NUDT8 | Q8WV74 | 467 |
| FAM174B | GAK | O14976 | 454 |
| FAM174B | DEPDC1 | Q5TB30 | 453 |
| FAM174B | XXYLT1 | Q8NBI6 | 445 |
| FAM174B | LCN10 | Q6JVE6 | 439 |
| FAM174B | CHD2 | O14647 | 437 |
| FAM174B | RAD9A | Q99638 | 429 |
| FAM174B | RGMA | Q96B86 | 428 |
| FAM174B | TBC1D16 | Q8TBP0 | 425 |
| FAM174B | TSPO2 | Q5TGU0 | 421 |
IntAct
0 interactions, top by confidence:
BioGRID (1): FAM174B (Co-fractionation)
ESM2 similar proteins: A0A8I5KY20, A2A9T0, A2IDD5, B0BNK9, B8ZZ34, C9JI98, C9JLR9, F5GYI3, O18734, P0CG25, P84157, Q0IIA6, Q0PHV7, Q0X0E2, Q13387, Q1RMK9, Q2M3D2, Q2TAM9, Q3ZCQ3, Q4VA45, Q673H1, Q69YZ2, Q6NS60, Q6P6N5, Q6PJ61, Q7Z6J2, Q80ZJ8, Q810I0, Q86SX3, Q86UD0, Q86XT2, Q8BNN1, Q8IUW3, Q8N4Y2, Q8N6N2, Q8QZV0, Q8R4T5, Q8TF61, Q8VCR9, Q8WXF8
Diamond homologs: Q1LVN1, Q1RMK9, Q3ZCQ3, Q5FVQ7, Q8K064, Q8TBP5, Q9D3L0, Q640B5, A0JPB5
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 3 cancer types — MBL, PAST, PRAD.
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
966 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:92619456:TTAC:T | acceptor_gain | 1.0000 |
| 15:92619457:TAC:T | acceptor_gain | 1.0000 |
| 15:92619458:ACC:A | acceptor_loss | 1.0000 |
| 15:92619460:CTA:C | acceptor_loss | 1.0000 |
| 15:92619461:T:A | acceptor_loss | 1.0000 |
| 15:92630208:CTGTA:C | donor_loss | 1.0000 |
| 15:92630210:GTAC:G | donor_loss | 1.0000 |
| 15:92630211:TAC:T | donor_loss | 1.0000 |
| 15:92630212:A:AT | donor_loss | 1.0000 |
| 15:92630341:CCGAC:C | acceptor_gain | 1.0000 |
| 15:92630342:CGAC:C | acceptor_gain | 1.0000 |
| 15:92630342:CGACC:C | acceptor_gain | 1.0000 |
| 15:92630343:GAC:G | acceptor_gain | 1.0000 |
| 15:92630344:AC:A | acceptor_gain | 1.0000 |
| 15:92630345:CC:C | acceptor_gain | 1.0000 |
| 15:92630345:CCT:C | acceptor_loss | 1.0000 |
| 15:92630346:C:CC | acceptor_gain | 1.0000 |
| 15:92630347:T:A | acceptor_loss | 1.0000 |
| 15:92619455:TTTAC:T | acceptor_gain | 0.9900 |
| 15:92619460:C:CC | acceptor_gain | 0.9900 |
| 15:92655310:GCCCA:G | donor_loss | 0.9900 |
| 15:92655311:CCCAC:C | donor_loss | 0.9900 |
| 15:92655312:CCACC:C | donor_loss | 0.9900 |
| 15:92655313:CA:C | donor_loss | 0.9900 |
| 15:92655315:C:CT | donor_loss | 0.9900 |
| 15:92619458:AC:A | acceptor_gain | 0.9800 |
| 15:92619459:CC:C | acceptor_gain | 0.9800 |
| 15:92621955:C:CC | acceptor_gain | 0.9800 |
| 15:92630212:A:AC | donor_gain | 0.9800 |
| 15:92630213:C:CC | donor_gain | 0.9800 |
AlphaMissense
1004 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:92630228:G:C | F154L | 0.999 |
| 15:92630228:G:T | F154L | 0.999 |
| 15:92630230:A:G | F154L | 0.999 |
| 15:92630229:A:C | F154C | 0.998 |
| 15:92630277:A:G | M138T | 0.998 |
| 15:92630276:C:A | M138I | 0.997 |
| 15:92630276:C:G | M138I | 0.997 |
| 15:92630276:C:T | M138I | 0.997 |
| 15:92630313:T:C | Y126C | 0.997 |
| 15:92630314:A:G | Y126H | 0.997 |
| 15:92630277:A:C | M138R | 0.996 |
| 15:92630229:A:G | F154S | 0.995 |
| 15:92630304:A:T | I129N | 0.995 |
| 15:92630304:A:G | I129T | 0.994 |
| 15:92630230:A:C | F154V | 0.993 |
| 15:92630230:A:T | F154I | 0.993 |
| 15:92630304:A:C | I129S | 0.993 |
| 15:92630277:A:T | M138K | 0.992 |
| 15:92630307:A:C | I128S | 0.991 |
| 15:92630313:T:G | Y126S | 0.991 |
| 15:92630268:A:G | L141P | 0.990 |
| 15:92630268:A:T | L141Q | 0.990 |
| 15:92630307:A:T | I128N | 0.990 |
| 15:92630315:C:A | K125N | 0.990 |
| 15:92630315:C:G | K125N | 0.990 |
| 15:92630320:G:T | R124S | 0.989 |
| 15:92630314:A:C | Y126D | 0.988 |
| 15:92630242:C:G | D150H | 0.987 |
| 15:92630307:A:G | I128T | 0.986 |
| 15:92630310:T:A | D127V | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000013663 (15:92636366 T>G), RS1000088523 (15:92636081 C>T), RS1000090357 (15:92653836 C>A,T), RS1000162831 (15:92638530 A>C), RS1000242620 (15:92656878 C>T), RS1000251557 (15:92628089 C>T), RS1000308394 (15:92621985 C>A), RS1000337397 (15:92633018 G>A), RS1000432628 (15:92626380 T>A,G), RS1000453538 (15:92633394 G>A), RS1000519094 (15:92655242 G>A,C), RS1000592886 (15:92645743 G>A), RS1000619733 (15:92650901 C>T), RS1000682092 (15:92638738 C>T), RS1000692729 (15:92645336 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
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000918_2 | HIV-1 susceptibility | 7.000000e-06 |
| GCST001521_13 | Subcutaneous adipose tissue | 3.000000e-06 |
| GCST003542_96 | Night sleep phenotypes | 4.000000e-06 |
| GCST007267_121 | Systolic blood pressure | 2.000000e-10 |
| GCST007269_152 | Pulse pressure | 9.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000180 | HIV-1 infection |
| EFO:0006335 | systolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 4 |
| sodium arsenite | increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| 2-palmitoylglycerol | 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 |
| belinostat | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Naled | affects expression | 1 |
| Plant Oils | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Thapsigargin | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.