FAM131A

Summary

FAM131A (family with sequence similarity 131 member A, HGNC:28308) is a protein-coding gene on chromosome 3q27.1, encoding Protein FAM131A (Q6UXB0).

At a glance

• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_144635

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28308
Approved symbol	FAM131A
Name	family with sequence similarity 131 member A
Location	3q27.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC21688
Ensembl gene	ENSG00000175182
Ensembl biotype	protein_coding
Entrez	131408

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000310585, ENST00000340957, ENST00000383847, ENST00000418281, ENST00000418768, ENST00000433578, ENST00000450976, ENST00000453072, ENST00000487702, ENST00000497070, ENST00000639617, ENST00000855138

RefSeq mRNA: 4 — MANE Select: NM_144635 NM_001171093, NM_001366133, NM_001366134, NM_144635

CCDS: CCDS3262, CCDS54689

Canonical transcript exons

ENST00000383847 — 6 exons

Exon	Start	End
ENSE00001378720	184344495	184346275
ENSE00001498860	184337600	184337718
ENSE00003482618	184338387	184338529
ENSE00003606613	184342066	184342248
ENSE00003691316	184341724	184341817
ENSE00003786335	184342744	184342860

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 97.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5210 / max 314.8113, expressed in 1656 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40186	4.0493	1615
40188	2.1443	245
40190	0.4844	160
40189	0.4749	167
40187	0.3681	164

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	97.20	gold quality
right frontal lobe	UBERON:0002810	96.43	gold quality
secondary oocyte	CL:0000655	96.14	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.04	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.91	gold quality
frontal cortex	UBERON:0001870	95.89	gold quality
middle temporal gyrus	UBERON:0002771	95.67	gold quality
neocortex	UBERON:0001950	95.44	gold quality
orbitofrontal cortex	UBERON:0004167	95.32	gold quality
cerebral cortex	UBERON:0000956	95.20	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.11	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.99	gold quality
cingulate cortex	UBERON:0003027	94.94	gold quality
anterior cingulate cortex	UBERON:0009835	94.84	gold quality
cerebellar hemisphere	UBERON:0002245	94.71	gold quality
cerebellar cortex	UBERON:0002129	94.68	gold quality
Ammon’s horn	UBERON:0001954	94.63	gold quality
telencephalon	UBERON:0001893	94.31	gold quality
cerebellum	UBERON:0002037	94.31	gold quality
occipital lobe	UBERON:0002021	94.28	gold quality
superior frontal gyrus	UBERON:0002661	94.18	gold quality
frontal pole	UBERON:0002795	94.15	gold quality
parietal lobe	UBERON:0001872	94.06	gold quality
nucleus accumbens	UBERON:0001882	94.02	gold quality
adenohypophysis	UBERON:0002196	93.98	gold quality
primary visual cortex	UBERON:0002436	93.98	gold quality
forebrain	UBERON:0001890	93.97	gold quality
pituitary gland	UBERON:0000007	93.96	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.95	gold quality
Brodmann (1909) area 10	UBERON:0013541	93.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

73 targeting FAM131A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-149-3P	99.72	68.22	3963

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam131aa	ENSDARG00000077022
mus_musculus	Fam131a	ENSMUSG00000050821
rattus_norvegicus	Fam131a	ENSRNOG00000063031

Paralogs (2): FAM131B (ENSG00000159784), FAM131C (ENSG00000185519)

Protein

Protein identifiers

Protein FAM131A — Q6UXB0 (reviewed: Q6UXB0)

All UniProt accessions (5): A0A1W2PQP7, C9JP51, C9JPT9, C9JY59, Q6UXB0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM131 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6UXB0-3	3	yes
Q6UXB0-1	1
Q6UXB0-2	2

RefSeq proteins (4): NP_001164564, NP_001353062, NP_001353063, NP_653236* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026782	FAM131	Family

Pfam: PF15010

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXB0-F1	52.45	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 132 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, ATF_B, MULLIGHAN_NPM1_SIGNATURE_3_UP, KAAB_FAILED_HEART_ATRIUM_DN, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_DN, CREBP1_Q2, CAGCTG_AP4_Q5, EFC_Q6, CREB_Q4, MODULE_66, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, ATF1_Q6, GATA1_01, HEN1_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

256 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM131A	DPY19L4	Q7Z388	540
FAM131A	ILKAP	Q9H0C8	494
FAM131A	OR10V1	Q8NGI7	479
FAM131A	DHRS13	Q6UX07	478
FAM131A	EPCIP	Q9NYP8	473
FAM131A	VWA5B2	Q8N398	469
FAM131A	ABCF3	Q9NUQ8	449
FAM131A	MAP6D1	Q9H9H5	417
FAM131A	ALG3	Q92685	408
FAM131A	EEF1AKMT4-ECE2	P0DPD8	374
FAM131A	PHYHIPL	Q96FC7	370
FAM131A	NXPH1	P58417	353
FAM131A	CAPN15	O75808	350
FAM131A	EIF2B5	Q13144	349
FAM131A	OR14A2	Q96R54	348
FAM131A	GRAMD1A	Q96CP6	348

IntAct

3 interactions, top by confidence:

A	B	Type	Score
IDH1	FAM131A	psi-mi:“MI:0915”(physical association)	0.370
PHYHIP	FAM131A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): FAM131A (Affinity Capture-RNA), FAM131A (Two-hybrid), FAM131A (Two-hybrid), FAM131A (Affinity Capture-RNA), FAM131A (Affinity Capture-RNA), FAM131A (Affinity Capture-RNA)

ESM2 similar proteins: A0JNG6, A2AKB4, A7YWL5, B0BN13, O35181, O43734, O70142, O70240, O88286, O88566, P0DPB3, P0DPB4, P56975, P70298, P86174, P97303, Q00IB7, Q1LY51, Q2M3C6, Q2T9L4, Q3TY60, Q498S6, Q4V7B1, Q568Z1, Q5HZN9, Q5JTD0, Q5SYB0, Q5U5E5, Q5VT97, Q69ZB8, Q6PG95, Q6UXB0, Q6ZU67, Q76N89, Q80YE4, Q86XD5, Q8BWU3, Q8BZB3, Q8CD60, Q8N365

Diamond homologs: A0JNG6, Q3TY60, Q568Z1, Q6UXB0, Q86XD5, Q8BWU3, Q96AQ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1008 predictions. Top by Δscore:

Variant	Effect	Δscore
3:184342726:ATTCT:A	acceptor_gain	1.0000
3:184342730:T:TA	acceptor_gain	1.0000
3:184342736:T:TA	acceptor_gain	1.0000
3:184342738:C:CA	acceptor_gain	1.0000
3:184342741:CA:C	acceptor_loss	1.0000
3:184342742:A:AG	acceptor_gain	1.0000
3:184342743:G:GG	acceptor_gain	1.0000
3:184342743:G:GT	acceptor_loss	1.0000
3:184342743:GGA:G	acceptor_gain	1.0000
3:184342743:GGAGT:G	acceptor_gain	1.0000
3:184342836:G:GT	donor_gain	1.0000
3:184342858:CAGG:C	donor_loss	1.0000
3:184342860:GGTG:G	donor_loss	1.0000
3:184342861:G:GA	donor_loss	1.0000
3:184344493:A:AG	acceptor_gain	1.0000
3:184344493:AGAC:A	acceptor_loss	1.0000
3:184344494:G:GT	acceptor_gain	1.0000
3:184344494:GAC:G	acceptor_gain	1.0000
3:184344494:GACA:G	acceptor_gain	1.0000
3:184344494:GACAT:G	acceptor_gain	1.0000
3:184338508:GGAC:G	donor_gain	0.9900
3:184341722:A:G	acceptor_gain	0.9900
3:184342185:G:GT	donor_gain	0.9900
3:184342263:GGGGA:G	donor_gain	0.9900
3:184342264:GGGA:G	donor_gain	0.9900
3:184342265:GGA:G	donor_gain	0.9900
3:184342266:GA:G	donor_gain	0.9900
3:184342267:A:G	donor_gain	0.9900
3:184342723:T:G	acceptor_gain	0.9900
3:184342726:A:AG	acceptor_gain	0.9900

AlphaMissense

2333 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:184341800:C:A	A103D	1.000
3:184342135:T:C	L132P	1.000
3:184342138:T:A	I133N	1.000
3:184342143:T:A	W135R	1.000
3:184342143:T:C	W135R	1.000
3:184342145:G:C	W135C	1.000
3:184342145:G:T	W135C	1.000
3:184342240:T:C	F167S	1.000
3:184342758:T:C	F175L	1.000
3:184342759:T:C	F175S	1.000
3:184342759:T:G	F175C	1.000
3:184342760:T:A	F175L	1.000
3:184342760:T:G	F175L	1.000
3:184342773:G:C	A180P	1.000
3:184341785:A:T	E98V	0.999
3:184341788:T:G	I99S	0.999
3:184341791:C:A	A100D	0.999
3:184341797:T:A	L102Q	0.999
3:184341797:T:C	L102P	0.999
3:184342069:T:C	I110T	0.999
3:184342085:G:C	K115N	0.999
3:184342085:G:T	K115N	0.999
3:184342093:T:A	V118E	0.999
3:184342119:G:C	G127R	0.999
3:184342129:C:A	A130D	0.999
3:184342131:C:G	H131D	0.999
3:184342135:T:A	L132H	0.999
3:184342138:T:G	I133S	0.999
3:184342144:G:C	W135S	0.999
3:184342152:T:A	W138R	0.999

dbSNP variants (sampled 300 via entrez): RS1000149334 (3:184335906 G>A,C), RS1001329374 (3:184336084 G>C), RS1001399296 (3:184340648 T>C), RS1001446165 (3:184336149 T>C,G), RS1001511559 (3:184336440 C>T), RS1001685586 (3:184336396 G>A), RS1001939576 (3:184345184 CTTGCCGGGGG>C), RS1001997746 (3:184341374 G>T), RS1002241869 (3:184335348 A>C,G), RS1002303673 (3:184341063 C>G), RS1002455299 (3:184335172 T>C), RS1002543681 (3:184337768 C>G,T), RS1002735763 (3:184335342 GAATTC>G), RS1002782147 (3:184344270 C>G), RS1002921204 (3:184338052 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
clothianidin	decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	increases expression	1
PCI 5002	affects cotreatment, increases 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
Temozolomide	decreases expression	1
Decitabine	affects expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzene	increases expression	1
Catechin	affects cotreatment, increases expression	1
Cisplatin	affects expression	1
Lead	affects splicing	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Dronabinol	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases methylation, increases expression	1
Zinc	affects cotreatment, increases expression	1
Asbestos, Crocidolite	increases expression	1

Clinical trials (associated diseases)

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