FAM177B

Summary

FAM177B (family with sequence similarity 177 member B, HGNC:34395) is a protein-coding gene on chromosome 1q41, encoding Protein FAM177B (A6PVY3).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001394345

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34395
Approved symbol	FAM177B
Name	family with sequence similarity 177 member B
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	RP11-452F19.2, FLJ43505
Ensembl gene	ENSG00000197520
Ensembl biotype	protein_coding
Entrez	400823

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000360827, ENST00000391880, ENST00000434700, ENST00000445590, ENST00000456298, ENST00000460763, ENST00000893418, ENST00000893419, ENST00000964169, ENST00000964170, ENST00000964171, ENST00000964172

RefSeq mRNA: 3 — MANE Select: NM_001394345 NM_001324080, NM_001394345, NM_207468

CCDS: CCDS1535

Canonical transcript exons

ENST00000445590 — 6 exons

Exon	Start	End
ENSE00001408132	222746531	222746719
ENSE00001412121	222747015	222747081
ENSE00001509986	222749465	222749562
ENSE00001509987	222737904	222738021
ENSE00001595630	222749921	222751004
ENSE00003928066	222737202	222737322

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 84.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3348 / max 54.2742, expressed in 76 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8730	0.1986	36
8732	0.1179	53
8731	0.0183	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.83	gold quality
gall bladder	UBERON:0002110	83.40	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.77	gold quality
rectum	UBERON:0001052	80.29	gold quality
small intestine	UBERON:0002108	78.17	gold quality
body of stomach	UBERON:0001161	77.38	gold quality
lymph node	UBERON:0000029	76.40	gold quality
vermiform appendix	UBERON:0001154	75.80	gold quality
stomach	UBERON:0000945	74.51	gold quality
mucosa of transverse colon	UBERON:0004991	72.39	gold quality
mucosa of stomach	UBERON:0001199	72.14	gold quality
granulocyte	CL:0000094	70.12	gold quality
minor salivary gland	UBERON:0001830	69.17	gold quality
spleen	UBERON:0002106	68.37	gold quality
caecum	UBERON:0001153	68.17	gold quality
transverse colon	UBERON:0001157	67.34	gold quality
right adrenal gland cortex	UBERON:0035827	67.11	gold quality
tibialis anterior	UBERON:0001385	67.05	silver quality
islet of Langerhans	UBERON:0000006	66.23	gold quality
mouth mucosa	UBERON:0003729	65.55	gold quality
saliva-secreting gland	UBERON:0001044	64.11	gold quality
smooth muscle tissue	UBERON:0001135	63.94	gold quality
intestine	UBERON:0000160	63.52	gold quality
fundus of stomach	UBERON:0001160	63.34	gold quality
sperm	CL:0000019	62.88	gold quality
colonic epithelium	UBERON:0000397	62.57	silver quality
tendon of biceps brachii	UBERON:0008188	62.55	gold quality
ileal mucosa	UBERON:0000331	62.37	gold quality
endothelial cell	CL:0000115	61.93	gold quality
right coronary artery	UBERON:0001625	61.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	24.39
E-GEOD-125970	yes	7.37
E-GEOD-81608	yes	4.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting FAM177B, 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-656-3P	100.00	72.15	2788
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-3908	98.75	67.31	1160
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-4766-3P	98.48	67.94	1347
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-744-3P	97.99	67.76	637
HSA-MIR-6793-3P	97.66	65.78	1084
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-6501-5P	97.41	68.24	712
HSA-MIR-27B-5P	97.34	66.55	549
HSA-MIR-6515-5P	97.08	65.48	1219

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	CG8300	FBGN0029937

Paralogs (1): FAM177A1 (ENSG00000151327)

Protein

Protein identifiers

Protein FAM177B — A6PVY3 (reviewed: A6PVY3)

All UniProt accessions (3): A6PVY1, A6PVY2, A6PVY3

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM177 family.

Isoforms (2)

UniProt ID	Names	Canonical?
A6PVY3-1	1	yes
A6PVY3-2	2

RefSeq proteins (3): NP_001311009, NP_001381274, NP_997351 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028260	FAM177	Family

Pfam: PF14774

UniProt features (7 total): splice variant 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6PVY3-F1	64.02	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): CCANNAGRKGGC_UNKNOWN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ZNF22_TARGET_GENES, ZNF274_TARGET_GENES, MIR4251, MIR608, MIR4651, MIR603, MIR12119, MIR149_5P, MIR6515_5P, MIR744_3P, MANNE_COVID19_COMBINED_COHORT_VS_HEALTHY_DONOR_PLATELETS_UP, GAO_LARGE_INTESTINE_ADULT_CF_GOBLET_CELL_SUBTYPE_1, BUSSLINGER_GASTRIC_ISTHMUS_CELLS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM177B	TEX44	Q53QW1	583
FAM177B	TFF1	P04155	445
FAM177B	CATSPERT	Q53TS8	413
FAM177B	HHIPL2	Q6UWX4	411
FAM177B	MOB3C	Q70IA8	390
FAM177B	TDRD10	Q5VZ19	380
FAM177B	PRKRIP1	Q9H875	371
FAM177B	MYBPHL	A2RUH7	366
FAM177B	MANBA	O00462	360
FAM177B	GPR157	Q5UAW9	359
FAM177B	BROX	Q5VW32	352
FAM177B	NAA11	Q9BSU3	348
FAM177B	FAM117B	Q6P1L5	348
FAM177B	QSER1	Q2KHR3	348
FAM177B	BEST3	Q8N1M1	325

IntAct

2 interactions, top by confidence:

A	B	Type	Score
FAM177B	RPS16	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (4): RPS16 (Proximity Label-MS), TMCO1 (Proximity Label-MS), FAM177B (Affinity Capture-RNA), HSP90AB1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2BDB7, A6PVY3, F6RRD7, F7BHS0, O14990, O55036, O60566, P16383, P54274, P58501, Q08B36, Q0VFF9, Q28C41, Q28GJ0, Q28GL6, Q2T9X8, Q2TBG9, Q2WG79, Q3ZCI6, Q4R6Q9, Q5BJ78, Q5M8L3, Q5NVK0, Q5R6R3, Q5R789, Q5R939, Q5RA37, Q5RBY6, Q5TID7, Q5XIG5, Q640L3, Q68G75, Q6AYN9, Q6GNQ4, Q6NTW1, Q6NZY4, Q6PCG6, Q80VH0, Q80ZU5, Q8AVX1

Diamond homologs: A6PVY3, A6QLZ5, Q8BR63, Q8N128

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

737 predictions. Top by Δscore:

Variant	Effect	Δscore
1:222746529:A:AG	acceptor_gain	1.0000
1:222746530:G:GG	acceptor_gain	1.0000
1:222746547:T:TA	acceptor_gain	1.0000
1:222746687:G:GT	donor_gain	1.0000
1:222746716:CCCT:C	donor_gain	1.0000
1:222746720:G:GG	donor_gain	1.0000
1:222746725:C:G	donor_gain	1.0000
1:222747013:A:AG	acceptor_gain	1.0000
1:222747014:G:GG	acceptor_gain	1.0000
1:222749077:GAT:G	donor_gain	1.0000
1:222746210:A:AG	acceptor_gain	0.9900
1:222746527:CTA:C	acceptor_loss	0.9900
1:222746528:TA:T	acceptor_loss	0.9900
1:222746529:AGTT:A	acceptor_gain	0.9900
1:222746530:GTT:G	acceptor_gain	0.9900
1:222746530:GTTG:G	acceptor_gain	0.9900
1:222746530:GTTGT:G	acceptor_gain	0.9900
1:222746543:A:AG	acceptor_gain	0.9900
1:222746543:ATTAT:A	acceptor_gain	0.9900
1:222746548:G:A	acceptor_gain	0.9900
1:222746635:C:CA	acceptor_gain	0.9900
1:222746675:G:GT	donor_gain	0.9900
1:222746715:ACCCT:A	donor_gain	0.9900
1:222746716:CCCTG:C	donor_loss	0.9900
1:222746717:CCT:C	donor_gain	0.9900
1:222746718:CT:C	donor_gain	0.9900
1:222746719:TGTAA:T	donor_loss	0.9900
1:222746720:G:GA	donor_loss	0.9900
1:222746721:T:A	donor_loss	0.9900
1:222747014:GT:G	acceptor_gain	0.9900

AlphaMissense

1043 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:222746627:T:C	F28L	0.967
1:222746629:T:A	F28L	0.967
1:222746629:T:G	F28L	0.967
1:222749467:T:C	C82R	0.922
1:222749473:T:C	F84L	0.917
1:222749475:C:A	F84L	0.917
1:222749475:C:G	F84L	0.917
1:222746637:G:T	G31V	0.883
1:222747027:T:A	W63R	0.872
1:222747027:T:C	W63R	0.872
1:222746622:T:G	I26S	0.865
1:222746628:T:C	F28S	0.863
1:222747029:G:C	W63C	0.860
1:222747029:G:T	W63C	0.860
1:222746622:T:C	I26T	0.853
1:222749480:G:A	G86D	0.850
1:222746617:G:C	R24S	0.835
1:222746617:G:T	R24S	0.835
1:222749520:A:C	K99N	0.826
1:222749520:A:T	K99N	0.826
1:222746622:T:A	I26N	0.820
1:222747061:T:A	I74K	0.819
1:222746657:A:C	S38R	0.818
1:222746659:C:A	S38R	0.818
1:222746659:C:G	S38R	0.818
1:222747064:C:A	A75E	0.813
1:222749479:G:C	G86R	0.802
1:222747045:T:C	F69L	0.800
1:222747047:T:A	F69L	0.800
1:222747047:T:G	F69L	0.800

dbSNP variants (sampled 300 via entrez): RS1000064048 (1:222748326 G>C,T), RS1000242408 (1:222746684 A>G), RS1000422937 (1:222740240 CA>C), RS1000436359 (1:222748021 G>A), RS1000614026 (1:222748233 G>T), RS1000882652 (1:222735329 A>G), RS1001038635 (1:222746606 A>C,G), RS1001593773 (1:222747776 A>G), RS1001709521 (1:222749495 T>C), RS1001862575 (1:222742972 G>C), RS1001893707 (1:222743327 G>A,T), RS1001978619 (1:222741077 T>C), RS1002138134 (1:222736258 C>T), RS1002326969 (1:222742521 T>G), RS1002328669 (1:222749757 C>A,T)

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
GCST000477_47	Cognitive performance	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	increases abundance, decreases expression	2
potassium chromate(VI)	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Arsenic	affects methylation	1
Arsenicals	decreases expression	1
Drugs, Chinese Herbal	decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance, affects cotreatment	1
Tobacco Smoke Pollution	affects expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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