FAM185A

Summary

FAM185A (family with sequence similarity 185 member A, HGNC:22412) is a protein-coding gene on chromosome 7q22.1, encoding Protein FAM185A (Q8N0U4).

Located in mitochondrion.

Source: NCBI Gene 222234 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 66 total
• MANE Select transcript: NM_001145268

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22412
Approved symbol	FAM185A
Name	family with sequence similarity 185 member A
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC35361
Ensembl gene	ENSG00000222011
Ensembl biotype	protein_coding
Entrez	222234

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000409231, ENST00000413034, ENST00000418198, ENST00000420217, ENST00000442873, ENST00000481697, ENST00000487807, ENST00000496790, ENST00000880453, ENST00000880454, ENST00000880455, ENST00000880456, ENST00000880457, ENST00000950231, ENST00000950232

RefSeq mRNA: 3 — MANE Select: NM_001145268 NM_001145268, NM_001145269, NM_001350987

CCDS: CCDS47676, CCDS47677

Canonical transcript exons

ENST00000413034 — 8 exons

Exon	Start	End
ENSE00001867186	102808290	102809225
ENSE00001933049	102748999	102749658
ENSE00003467076	102787335	102787469
ENSE00003523363	102761273	102761411
ENSE00003557868	102757854	102757946
ENSE00003574112	102772409	102772450
ENSE00003632688	102751692	102751801
ENSE00003685690	102777253	102777348

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 90.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.5852 / max 27.9844, expressed in 1241 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80259	2.5852	1241

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
quadriceps femoris	UBERON:0001377	90.52	silver quality
corpus callosum	UBERON:0002336	89.16	gold quality
calcaneal tendon	UBERON:0003701	87.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.24	gold quality
colonic epithelium	UBERON:0000397	82.67	gold quality
skeletal muscle tissue	UBERON:0001134	82.58	gold quality
cerebellar vermis	UBERON:0004720	82.05	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.68	gold quality
muscle tissue	UBERON:0002385	80.52	gold quality
muscle of leg	UBERON:0001383	80.13	gold quality
adrenal tissue	UBERON:0018303	80.13	gold quality
gastrocnemius	UBERON:0001388	79.71	gold quality
endometrium	UBERON:0001295	79.46	gold quality
sural nerve	UBERON:0015488	79.07	gold quality
liver	UBERON:0002107	78.43	gold quality
ovary	UBERON:0000992	77.70	gold quality
left ovary	UBERON:0002119	77.43	gold quality
mucosa of stomach	UBERON:0001199	77.23	gold quality
ventricular zone	UBERON:0003053	77.17	gold quality
right lobe of liver	UBERON:0001114	77.12	gold quality
popliteal artery	UBERON:0002250	77.05	gold quality
tibial artery	UBERON:0007610	77.05	gold quality
uterine cervix	UBERON:0000002	77.04	gold quality
tonsil	UBERON:0002372	77.01	gold quality
stomach	UBERON:0000945	76.94	gold quality
right ovary	UBERON:0002118	76.92	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	76.90	gold quality
descending thoracic aorta	UBERON:0002345	76.62	gold quality
lower esophagus	UBERON:0013473	76.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting FAM185A, 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-4481	100.00	66.42	1669
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-1287-3P	99.63	66.93	492
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-5590-5P	98.81	68.78	969
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-496	98.66	69.80	931
HSA-MIR-649	97.96	67.21	704
HSA-MIR-483-3P	97.77	64.95	731
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-1233-3P	96.81	65.44	573

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam185a	ENSDARG00000019142
mus_musculus	Fam185a	ENSMUSG00000047221
rattus_norvegicus	AABR07059232.1	ENSRNOG00000048371
drosophila_melanogaster	CG8187	FBGN0034027

Protein

Protein identifiers

Protein FAM185A — Q8N0U4 (reviewed: Q8N0U4)

All UniProt accessions (3): C9JFL0, Q8N0U4, F8WFC0

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N0U4-1	1	yes
Q8N0U4-2	2
Q8N0U4-3	3

RefSeq proteins (3): NP_001138740, NP_001138741, NP_001337916 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025164	Toastrack_DUF4097	Domain

Pfam: PF13349

UniProt features (6 total): splice variant 2, sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N0U4-F1	78.62	0.50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 73 (showing top): AGGCACT_MIR5153P, CUI_TCF21_TARGETS_2_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, LI_INDUCED_T_TO_NATURAL_KILLER_UP, KATSANOU_ELAVL1_TARGETS_DN, FEV_TARGET_GENES, FOXJ2_TARGET_GENES, HOXB6_TARGET_GENES, RYBP_TARGET_GENES, ZNF223_TARGET_GENES, GSE10239_NAIVE_VS_KLRG1INT_EFF_CD8_TCELL_DN, GSE10239_NAIVE_VS_DAY4.5_EFF_CD8_TCELL_DN, MIR4481, MIR496

GO Biological Process (0):

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

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

424 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM185A	A0A0J9YYB4	A0A0J9YYB4	599
FAM185A	FBXL13	Q8NEE6	532
FAM185A	ZBTB45	Q96K62	518
FAM185A	DISP2	A7MBM2	506
FAM185A	TMEM134	Q9H6X4	499
FAM185A	SLC35F3	Q8IY50	479
FAM185A	NOL4	O94818	462
FAM185A	WDR70	Q9NW82	409
FAM185A	ARHGAP15	Q53QZ3	399
FAM185A	GJA9	P57773	398
FAM185A	SURF6	O75683	392
FAM185A	ENTPD7	Q9NQZ7	389
FAM185A	SEC14L4	Q9UDX3	380
FAM185A	LYPLAL1	Q5VWZ2	378
FAM185A	COLQ	Q9Y215	376

IntAct

10 interactions, top by confidence:

A	B	Type	Score
HGS	FAM185A	psi-mi:“MI:0915”(physical association)	0.560
NDUFV2	NDUFS8	psi-mi:“MI:0914”(association)	0.530
FAM185A	NOTCH1	psi-mi:“MI:0915”(physical association)	0.370
NDUFV3	NDUFS8	psi-mi:“MI:0914”(association)	0.350
TRIM55	FAM185A	psi-mi:“MI:0915”(physical association)	0.000
HGS	FAM185A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): FAM185A (Two-hybrid), FAM185A (Two-hybrid), FAM185A (Two-hybrid), FAM185A (Two-hybrid), FAM185A (Affinity Capture-MS), FAM185A (Affinity Capture-MS), FAM185A (Co-fractionation), FAM185A (Co-fractionation), FAM185A (Co-fractionation), FAM185A (Co-fractionation)

ESM2 similar proteins: A0JMU5, A1A5V9, A4D1P6, A4IGH4, A7E3S5, A7Z052, B2RYI0, D3ZEY4, E7FCP8, O08721, O08722, O46510, P49222, P52824, P57081, Q2EMV9, Q2HJE1, Q32N48, Q32PH0, Q3TIU4, Q3UY23, Q52L34, Q5FVB6, Q5RB07, Q5XFW6, Q5ZLL7, Q6AXQ5, Q6P5E8, Q6TEN6, Q6ZN44, Q6ZPG2, Q7T2Z5, Q7TMQ7, Q7TPD2, Q7ZY78, Q8BUI3, Q8IZJ1, Q8K1S3, Q8K1S4, Q8K337

Diamond homologs: Q7TPD2, Q8N0U4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2018 predictions. Top by Δscore:

Variant	Effect	Δscore
7:102749670:G:GT	donor_gain	1.0000
7:102757945:GT:G	donor_gain	1.0000
7:102761400:G:GT	donor_gain	1.0000
7:102777247:TCCTA:T	acceptor_loss	1.0000
7:102777248:CCTA:C	acceptor_loss	1.0000
7:102777249:CTAG:C	acceptor_loss	1.0000
7:102777250:TA:T	acceptor_loss	1.0000
7:102777251:A:AG	acceptor_gain	1.0000
7:102777251:AG:A	acceptor_loss	1.0000
7:102777252:G:GG	acceptor_gain	1.0000
7:102777252:GATTC:G	acceptor_gain	1.0000
7:102777345:AAAGG:A	donor_loss	1.0000
7:102777346:AAGGT:A	donor_loss	1.0000
7:102777347:AGG:A	donor_loss	1.0000
7:102777348:GGTT:G	donor_loss	1.0000
7:102777349:G:A	donor_loss	1.0000
7:102778709:ACT:A	acceptor_gain	1.0000
7:102778709:ACTG:A	acceptor_gain	1.0000
7:102778711:T:A	acceptor_gain	1.0000
7:102778712:G:A	acceptor_gain	1.0000
7:102749651:G:GT	donor_gain	0.9900
7:102749663:GTGAA:G	donor_gain	0.9900
7:102749665:G:GT	donor_gain	0.9900
7:102749682:GGTT:G	donor_gain	0.9900
7:102749725:TCG:T	donor_gain	0.9900
7:102751687:TCTA:T	acceptor_loss	0.9900
7:102751688:CTA:C	acceptor_loss	0.9900
7:102751688:CTAGG:C	acceptor_gain	0.9900
7:102751689:TA:T	acceptor_loss	0.9900
7:102751689:TAGG:T	acceptor_gain	0.9900

AlphaMissense

2515 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:102787347:T:A	V315D	0.971
7:102761292:T:C	L225P	0.970
7:102808373:T:A	W384R	0.970
7:102808373:T:C	W384R	0.970
7:102761297:G:A	G227R	0.964
7:102761297:G:C	G227R	0.964
7:102751781:A:C	S181R	0.963
7:102751783:T:A	S181R	0.963
7:102751783:T:G	S181R	0.963
7:102757870:T:A	V193D	0.957
7:102757896:T:C	C202R	0.957
7:102808375:G:C	W384C	0.955
7:102808375:G:T	W384C	0.955
7:102808326:T:C	I368T	0.954
7:102751801:G:C	K187N	0.951
7:102751801:G:T	K187N	0.951
7:102808331:G:C	A370P	0.951
7:102761298:G:A	G227E	0.950
7:102777334:T:C	L306S	0.950
7:102777271:T:C	L285P	0.949
7:102749515:T:A	V103D	0.948
7:102761277:T:A	V220E	0.946
7:102761349:T:C	L244P	0.945
7:102749599:T:A	I131N	0.942
7:102761292:T:G	L225R	0.940
7:102808332:C:A	A370D	0.940
7:102772426:A:C	S271R	0.938
7:102772428:C:A	S271R	0.938
7:102772428:C:G	S271R	0.938
7:102749655:T:C	F150L	0.936

dbSNP variants (sampled 300 via entrez): RS1000067206 (7:102816734 C>T), RS1000145710 (7:102837730 A>G), RS1000158398 (7:102842244 C>T), RS1000210081 (7:102766771 C>T), RS1000348060 (7:102801886 C>G,T), RS1000360534 (7:102782337 A>G), RS1000394658 (7:102782605 G>A), RS1000397046 (7:102845226 C>T), RS1000494154 (7:102830410 A>G), RS1000526735 (7:102788039 A>C), RS1000538372 (7:102836357 C>G,T), RS1000568989 (7:102775475 C>T), RS1000591720 (7:102835893 G>A), RS1000628661 (7:102837189 C>A,T), RS1000700648 (7:102843350 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

6 associations (top):

Study	Trait	p-value
GCST001762_605	Obesity-related traits	2.000000e-07
GCST003429_6	Morning vs. evening chronotype	6.000000e-09
GCST006479_111	Diverticular disease	4.000000e-14
GCST007565_114	Morning person	4.000000e-36
GCST007576_16	Chronotype	4.000000e-36
GCST90014033_83	Haemorrhoidal disease	6.000000e-18

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005190	urinary nitrogen measurement
EFO:0009959	diverticular disease
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
lead acetate	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
avobenzone	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Air Pollutants	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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