FAM151B

Summary

FAM151B (family with sequence similarity 151 member B, HGNC:33716) is a protein-coding gene on chromosome 5q14.1, encoding Protein FAM151B (Q6UXP7). Essential for survival of retinal photoreceptor cells.

Predicted to be involved in photoreceptor cell development. Predicted to be active in extracellular space.

Source: NCBI Gene 167555 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_205548

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33716
Approved symbol	FAM151B
Name	family with sequence similarity 151 member B
Location	5q14.1
Locus type	gene with protein product
Status	Approved
Aliases	UNQ9217
Ensembl gene	ENSG00000152380
Ensembl biotype	protein_coding
Entrez	167555

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000282226, ENST00000502608, ENST00000507084, ENST00000509292, ENST00000511718, ENST00000869019

RefSeq mRNA: 1 — MANE Select: NM_205548 NM_205548

CCDS: CCDS4051

Canonical transcript exons

ENST00000282226 — 6 exons

Exon	Start	End
ENSE00001171777	80541673	80542563
ENSE00003473895	80513604	80513769
ENSE00003485766	80522003	80522138
ENSE00003624592	80501792	80501917
ENSE00003694147	80519693	80519910
ENSE00003844649	80488100	80488148

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 85.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1.8602 / max 56.8238, expressed in 1082 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57310	1.2788	772
57309	0.5814	320

Top tissues by expression

140 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	85.42	gold quality
monocyte	CL:0000576	82.92	gold quality
leukocyte	CL:0000738	81.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.79	gold quality
bone marrow	UBERON:0002371	79.00	gold quality
bone marrow cell	CL:0002092	78.81	gold quality
endometrium	UBERON:0001295	74.14	gold quality
stromal cell of endometrium	CL:0002255	73.67	gold quality
blood	UBERON:0000178	72.48	gold quality
placenta	UBERON:0001987	72.25	gold quality
corpus callosum	UBERON:0002336	72.07	gold quality
adrenal tissue	UBERON:0018303	69.58	gold quality
granulocyte	CL:0000094	68.54	gold quality
islet of Langerhans	UBERON:0000006	68.39	gold quality
smooth muscle tissue	UBERON:0001135	67.82	gold quality
right adrenal gland	UBERON:0001233	67.68	gold quality
right adrenal gland cortex	UBERON:0035827	67.63	gold quality
cortical plate	UBERON:0005343	67.52	gold quality
superior frontal gyrus	UBERON:0002661	67.35	gold quality
calcaneal tendon	UBERON:0003701	67.07	gold quality
left adrenal gland cortex	UBERON:0035825	67.05	gold quality
left adrenal gland	UBERON:0001234	66.98	gold quality
adrenal gland	UBERON:0002369	66.93	gold quality
prefrontal cortex	UBERON:0000451	66.49	gold quality
right uterine tube	UBERON:0001302	65.93	gold quality
pancreas	UBERON:0001264	65.91	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	65.68	gold quality
adult mammalian kidney	UBERON:0000082	65.34	gold quality
ventricular zone	UBERON:0003053	65.15	gold quality
kidney	UBERON:0002113	64.84	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting FAM151B, 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-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-5689	99.50	71.26	1154
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-4705	99.10	69.10	1091

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam151b	ENSDARG00000020024
mus_musculus	Fam151b	ENSMUSG00000034334
rattus_norvegicus	Fam151b	ENSRNOG00000024136
drosophila_melanogaster	CG7231	FBGN0031968
caenorhabditis_elegans		WBGENE00012184

Paralogs (1): FAM151A (ENSG00000162391)

Protein

Protein identifiers

Protein FAM151B — Q6UXP7 (reviewed: Q6UXP7)

All UniProt accessions (2): Q6UXP7, D6RD51

UniProt curated annotations — full annotation on UniProt →

Function. Essential for survival of retinal photoreceptor cells.

Similarity. Belongs to the menorin family.

RefSeq proteins (1): NP_991111* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019356	Menorin_dom	Domain

Pfam: PF10223

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXP7-F1	94.95	0.94

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 44 (showing top): GOBP_NEUROGENESIS, GOBP_PHOTORECEPTOR_CELL_DEVELOPMENT, GOBP_PHOTORECEPTOR_CELL_DIFFERENTIATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_D, GRYDER_PAX3FOXO1_ENHANCERS_KO_DOWN, FOXN3_TARGET_GENES, ID1_TARGET_GENES, ID2_TARGET_GENES, ZNF708_TARGET_GENES, ZNF8_TARGET_GENES, MIR4306, MIR1323, MIR4644, MIR548O_3P

GO Biological Process (1): photoreceptor cell development (GO:0042461)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): obsolete extracellular space (GO:0005615)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
photoreceptor cell differentiation	1
neuron development	1
binding	1

Protein interactions and networks

STRING

268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM151B	ZFYVE16	Q7Z3T8	530
FAM151B	ARMC1	Q9NVT9	515
FAM151B	PXMP4	Q9Y6I8	513
FAM151B	ANKRD34B	A5PLL1	508
FAM151B	NUDT22	Q9BRQ3	490
FAM151B	GTSF1L	Q9H1H1	490
FAM151B	MRPL18	Q9H0U6	474
FAM151B	BORCS8	Q96FH0	426
FAM151B	SEPTIN11	Q9NVA2	424
FAM151B	F8	P00451	420
FAM151B	GOLGA7	Q7Z5G4	408
FAM151B	TMEM243	Q9BU79	404
FAM151B	SLC25A44	Q96H78	387
FAM151B	RNF149	Q8NC42	378
FAM151B	MIS18A	Q9NYP9	369

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FAM151B	TRIM15	psi-mi:“MI:0915”(physical association)	0.560
TRIM15	FAM151B	psi-mi:“MI:0915”(physical association)	0.560
Smad6	DDX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): FAM151B (Two-hybrid)

ESM2 similar proteins: A0A0D4WTV1, A5PN38, B2KKW0, C0JB40, C0JB52, C0JB56, C0JB58, C0JB60, C0JB61, C0JB62, C0JB65, C0JB69, C0JB71, C0JB72, C0JB73, C0JB74, C0JB75, C0JB79, C0JB80, C0JB81, C0JB82, C0JB85, C0JB86, C0JB87, C0JB88, C0JB92, C0JB93, D3YUE4, E5D3Z8, Q08BZ4, Q1W694, Q202J4, Q27Q54, Q2XQ09, Q3KTM2, Q3TT99, Q5RDY9, Q642A7, Q6UXP7, Q6W3E5

Diamond homologs: A5PN38, D3YUE4, Q5RDY9, Q642A7, Q6UXP7, Q8QZW3, Q8WW52, O45879

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1665 predictions. Top by Δscore:

Variant	Effect	Δscore
5:80488145:CCAG:C	donor_loss	1.0000
5:80488148:GGTAA:G	donor_loss	1.0000
5:80488150:T:G	donor_loss	1.0000
5:80489321:G:GT	donor_gain	1.0000
5:80501913:GAAAA:G	donor_gain	1.0000
5:80501918:G:GG	donor_gain	1.0000
5:80513599:GACA:G	acceptor_loss	1.0000
5:80513600:ACAG:A	acceptor_loss	1.0000
5:80513602:A:AC	acceptor_loss	1.0000
5:80513603:G:GT	acceptor_loss	1.0000
5:80513768:AGG:A	donor_loss	1.0000
5:80513770:G:GC	donor_loss	1.0000
5:80516687:GAAAC:G	donor_gain	1.0000
5:80516707:G:GG	donor_gain	1.0000
5:80519691:A:AG	acceptor_gain	1.0000
5:80519691:AGTCT:A	acceptor_gain	1.0000
5:80519692:G:GG	acceptor_gain	1.0000
5:80519692:GT:G	acceptor_gain	1.0000
5:80519692:GTCT:G	acceptor_gain	1.0000
5:80519692:GTCTG:G	acceptor_gain	1.0000
5:80541666:A:AG	acceptor_gain	1.0000
5:80541666:AAT:A	acceptor_gain	1.0000
5:80541667:A:G	acceptor_gain	1.0000
5:80541669:GCAG:G	acceptor_loss	1.0000
5:80541670:CAG:C	acceptor_loss	1.0000
5:80541671:A:AC	acceptor_loss	1.0000
5:80541671:A:AG	acceptor_gain	1.0000
5:80541672:G:GG	acceptor_gain	1.0000
5:80541672:GGTAC:G	acceptor_gain	1.0000
5:80488149:G:GG	donor_gain	0.9900

AlphaMissense

1848 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:80519874:T:A	W167R	0.995
5:80519874:T:C	W167R	0.995
5:80513755:G:C	K101N	0.991
5:80513755:G:T	K101N	0.991
5:80519769:G:C	A132P	0.989
5:80522075:T:A	V203D	0.989
5:80513717:T:A	W89R	0.988
5:80513717:T:C	W89R	0.988
5:80501869:T:A	W35R	0.985
5:80501869:T:C	W35R	0.985
5:80513624:G:C	A58P	0.984
5:80513767:A:C	K105N	0.979
5:80513767:A:T	K105N	0.979
5:80519876:G:C	W167C	0.979
5:80519876:G:T	W167C	0.979
5:80519760:T:A	W129R	0.978
5:80519760:T:C	W129R	0.978
5:80513753:A:G	K101E	0.977
5:80513761:T:A	D103E	0.975
5:80513761:T:G	D103E	0.975
5:80519875:G:C	W167S	0.975
5:80541681:T:C	L227P	0.975
5:80541689:T:A	W230R	0.975
5:80541689:T:C	W230R	0.975
5:80522069:T:C	F201S	0.974
5:80513721:T:C	L90P	0.973
5:80513766:A:T	K105I	0.972
5:80513757:T:A	L102Q	0.968
5:80513763:T:C	F104S	0.968
5:80519770:C:A	A132D	0.968

dbSNP variants (sampled 300 via entrez): RS1000067837 (5:80510331 C>T), RS1000170231 (5:80534896 A>C), RS1000234378 (5:80497952 A>G), RS1000250456 (5:80509944 C>T), RS1000313951 (5:80540084 C>A,T), RS1000402382 (5:80490909 G>T), RS1000513883 (5:80529199 G>A), RS1000540239 (5:80535278 C>A), RS1000582228 (5:80491585 C>T), RS1000680499 (5:80541360 C>G), RS1000814812 (5:80503943 T>G), RS1000827401 (5:80527928 A>G), RS1000840895 (5:80504439 T>G), RS1000876166 (5:80498922 C>T), RS1000916844 (5:80509117 G>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
GCST003142_3	Proteinuria in chronic kidney disease	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, affects expression, affects cotreatment	2
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
clothianidin	decreases expression	1
abrine	increases expression	1
bisphenol S	increases expression	1
Sunitinib	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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