FAM181A

Summary

FAM181A (family with sequence similarity 181 member A, HGNC:20491) is a protein-coding gene on chromosome 14q32.12, encoding Protein FAM181A (Q8N9Y4).

Located in cytoplasm.

Source: NCBI Gene 90050 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_001207073

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20491
Approved symbol	FAM181A
Name	family with sequence similarity 181 member A
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000140067
Ensembl biotype	protein_coding
Entrez	90050

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000267594, ENST00000554404, ENST00000556222, ENST00000557000, ENST00000557719, ENST00000894106, ENST00000894107

RefSeq mRNA: 5 — MANE Select: NM_001207073 NM_001207071, NM_001207072, NM_001207073, NM_001207074, NM_138344

CCDS: CCDS55939, CCDS9914

Canonical transcript exons

ENST00000556222 — 2 exons

Exon	Start	End
ENSE00002529849	93927344	93927454
ENSE00003666018	93928199	93929608

Expression profiles

Bgee: expression breadth broad, 78 present calls, max score 87.36.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0599 / max 80.6800, expressed in 189 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141187	0.9128	176
141188	0.0840	44
141189	0.0447	20
141186	0.0110	3
141185	0.0073	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	87.36	gold quality
right testis	UBERON:0004534	87.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.08	gold quality
testis	UBERON:0000473	86.64	gold quality
amygdala	UBERON:0001876	79.75	gold quality
temporal lobe	UBERON:0001871	79.72	gold quality
ventricular zone	UBERON:0003053	77.03	gold quality
hypothalamus	UBERON:0001898	76.64	gold quality
Ammon’s horn	UBERON:0001954	75.93	gold quality
caudate nucleus	UBERON:0001873	75.46	gold quality
nucleus accumbens	UBERON:0001882	75.46	gold quality
anterior cingulate cortex	UBERON:0009835	75.40	gold quality
substantia nigra	UBERON:0002038	74.46	gold quality
right frontal lobe	UBERON:0002810	73.96	gold quality
gastrocnemius	UBERON:0001388	73.53	gold quality
cerebral cortex	UBERON:0000956	73.28	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	72.82	gold quality
right uterine tube	UBERON:0001302	72.76	gold quality
prefrontal cortex	UBERON:0000451	72.68	gold quality
frontal cortex	UBERON:0001870	72.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.61	gold quality
skeletal muscle tissue	UBERON:0001134	71.93	gold quality
muscle of leg	UBERON:0001383	71.32	gold quality
putamen	UBERON:0001874	70.95	gold quality
brain	UBERON:0000955	70.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	68.92	gold quality
primary visual cortex	UBERON:0002436	65.70	gold quality
ganglionic eminence	UBERON:0004023	65.67	gold quality
superior frontal gyrus	UBERON:0002661	63.26	gold quality
muscle tissue	UBERON:0002385	63.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting FAM181A, 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-5193	100.00	67.26	1744
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-6890-3P	97.50	65.71	997

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam181a	ENSMUSG00000096753
rattus_norvegicus	Fam181a	ENSRNOG00000048412

Paralogs (1): FAM181B (ENSG00000182103)

Protein

Protein identifiers

Protein FAM181A — Q8N9Y4 (reviewed: Q8N9Y4)

All UniProt accessions (2): Q8N9Y4, G3V5K4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM181 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N9Y4-1	1	yes
Q8N9Y4-2	2

RefSeq proteins (5): NP_001194000, NP_001194001, NP_001194002, NP_001194003, NP_612353 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029359	FAM181	Family
IPR053819	TEADIR3_omega_loop	Conserved_site

Pfam: PF15238

UniProt features (12 total): region of interest 3, helix 2, compositionally biased region 2, sequence variant 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6SEN	X-RAY DIFFRACTION	1.65
6L9F	X-RAY DIFFRACTION	2.56

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9Y4-F1	59.93	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): MODULE_453, chr14q32, MYB_Q5_01, MYB_Q6, MARTENS_TRETINOIN_RESPONSE_UP, PEDRIOLI_MIR31_TARGETS_UP, SOX3_TARGET_GENES, MIR520D_5P, MIR524_5P, MIR4699_3P, MIR195_3P, MIR16_2_3P, MIR519D_5P, MIR3145_5P, MIR4708_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

376 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM181A	LRRC43	Q8N309	601
FAM181A	SPMIP10	Q6ZNM6	567
FAM181A	MRI1	Q9BV20	540
FAM181A	KRTAP19-7	Q3SYF9	507
FAM181A	OR6X1	Q8NH79	507
FAM181A	OR13J1	Q8NGT2	506
FAM181A	CFAP47	Q6ZTR5	485
FAM181A	CFAP141	Q5VU69	480
FAM181A	ZNF718	Q3SXZ3	479
FAM181A	IQCK	Q8N0W5	463
FAM181A	ANKRD60	Q9BZ19	447
FAM181A	RBM44	Q6ZP01	443
FAM181A	TTC7B	Q86TV6	443
FAM181A	OR2L13	Q8N349	433
FAM181A	KRTAP17-1	Q9BYP8	417

IntAct

2 interactions, top by confidence:

A	B	Type	Score
FAM181A	CLYBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): DIS3 (Affinity Capture-MS), PSMG3 (Affinity Capture-MS), CLYBL (Affinity Capture-MS), FAM181A (Affinity Capture-MS), FAM181A (Cross-Linking-MS (XL-MS)), FAM181A (Cross-Linking-MS (XL-MS)), FAM181A (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

Diamond homologs: A6NEQ2, A7MB34, Q80VF6, Q8N9Y4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

372 predictions. Top by Δscore:

Variant	Effect	Δscore
14:93918966:GCCTA:G	donor_gain	0.9900
14:93928194:CCCA:C	acceptor_loss	0.9900
14:93928197:A:T	acceptor_loss	0.9900
14:93928198:GGTC:G	acceptor_gain	0.9900
14:93928198:GGTCA:G	acceptor_gain	0.9900
14:93928197:A:AG	acceptor_gain	0.9800
14:93928198:G:GC	acceptor_gain	0.9800
14:93928435:G:GT	donor_gain	0.9800
14:93918973:A:AG	donor_gain	0.9700
14:93918974:G:GG	donor_gain	0.9700
14:93928197:AG:A	acceptor_gain	0.9700
14:93928198:GG:G	acceptor_gain	0.9700
14:93918980:G:GT	donor_gain	0.9500
14:93918990:TCA:T	donor_gain	0.9500
14:93928198:GGT:G	acceptor_gain	0.9500
14:93918991:CAAG:C	donor_loss	0.9400
14:93918993:AG:A	donor_loss	0.9400
14:93918995:G:GA	donor_loss	0.9400
14:93918996:T:G	donor_loss	0.9400
14:93918983:G:GT	donor_gain	0.9300
14:93918955:A:T	donor_gain	0.9100
14:93928189:T:TA	acceptor_gain	0.9100
14:93919218:T:G	donor_gain	0.8900
14:93928495:G:GT	donor_gain	0.8800
14:93928197:AGGT:A	acceptor_gain	0.8600
14:93928437:A:AG	donor_gain	0.8600
14:93928438:G:GG	donor_gain	0.8600
14:93928194:CCCAG:C	acceptor_gain	0.8500
14:93928195:CCAGG:C	acceptor_gain	0.8500
14:93928196:CAGGT:C	acceptor_gain	0.8500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000047764 (14:93924687 G>A,C), RS1000114239 (14:93926193 G>A), RS1000129257 (14:93929773 G>A), RS1000151128 (14:93918386 G>C), RS1000155478 (14:93929931 C>T), RS1000420317 (14:93924348 A>C), RS1000457364 (14:93920553 T>C), RS1000810584 (14:93925002 CCTTT>C), RS1000936959 (14:93930105 C>T), RS1000946424 (14:93928781 G>A), RS1001622204 (14:93920233 G>A), RS1001673788 (14:93923164 G>A), RS1001690864 (14:93925789 TA>T), RS1001697769 (14:93922881 A>G,T), RS1001945684 (14:93917469 T>C)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases expression, increases methylation	2
mivebresib	decreases expression	1
tetrachlorodian	decreases expression	1
tebuconazole	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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