FAM131C

Summary

FAM131C (family with sequence similarity 131 member C, HGNC:26717) is a protein-coding gene on chromosome 1p36.13, encoding Protein FAM131C (Q96AQ9).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 59 total — 1 pathogenic
• MANE Select transcript: NM_182623

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26717
Approved symbol	FAM131C
Name	family with sequence similarity 131 member C
Location	1p36.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36766
Ensembl gene	ENSG00000185519
Ensembl biotype	protein_coding
Entrez	348487

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000375662, ENST00000494078, ENST00000904375, ENST00000923919, ENST00000943020

RefSeq mRNA: 1 — MANE Select: NM_182623 NM_182623

CCDS: CCDS41270

Canonical transcript exons

ENST00000375662 — 7 exons

Exon	Start	End
ENSE00001296540	16063521	16063636
ENSE00001467854	16057769	16058717
ENSE00001860253	16073421	16073651
ENSE00003469820	16059494	16059604
ENSE00003581998	16059869	16060051
ENSE00003622291	16062099	16062192
ENSE00003685673	16062499	16062534

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 94.85.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2791 / max 134.9387, expressed in 788 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10514	1.5738	593
10515	0.7053	215

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar cortex	UBERON:0002129	94.85	gold quality
cerebellar hemisphere	UBERON:0002245	94.85	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.84	gold quality
cerebellum	UBERON:0002037	94.83	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.65	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.71	silver quality
substantia nigra	UBERON:0002038	85.50	gold quality
apex of heart	UBERON:0002098	83.40	gold quality
hypothalamus	UBERON:0001898	82.90	gold quality
metanephros cortex	UBERON:0010533	82.85	gold quality
anterior cingulate cortex	UBERON:0009835	81.71	gold quality
temporal lobe	UBERON:0001871	80.90	gold quality
amygdala	UBERON:0001876	80.88	gold quality
prefrontal cortex	UBERON:0000451	80.59	gold quality
right frontal lobe	UBERON:0002810	80.42	gold quality
brain	UBERON:0000955	80.36	gold quality
frontal cortex	UBERON:0001870	80.20	gold quality
cerebral cortex	UBERON:0000956	79.34	gold quality
Ammon’s horn	UBERON:0001954	79.18	gold quality
primary visual cortex	UBERON:0002436	78.37	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	77.86	gold quality
adult mammalian kidney	UBERON:0000082	77.25	gold quality
putamen	UBERON:0001874	76.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.54	gold quality
left adrenal gland cortex	UBERON:0035825	76.48	gold quality
right adrenal gland cortex	UBERON:0035827	76.19	gold quality
cortex of kidney	UBERON:0001225	76.13	gold quality
superior frontal gyrus	UBERON:0002661	76.10	gold quality
nucleus accumbens	UBERON:0001882	75.38	gold quality
left adrenal gland	UBERON:0001234	75.19	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	171.05
E-ANND-3	no	0.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting FAM131C, 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-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-589-5P	98.72	66.96	927
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-3909	97.55	66.78	887
HSA-MIR-3173-5P	97.35	65.82	1282
HSA-MIR-6799-3P	97.35	65.60	1302
HSA-MIR-1224-3P	97.24	65.92	851
HSA-MIR-4286	97.20	64.37	1587

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam131c	ENSDARG00000037320
mus_musculus	Fam131c	ENSMUSG00000006218
rattus_norvegicus	Fam131c	ENSRNOG00000023008

Paralogs (2): FAM131B (ENSG00000159784), FAM131A (ENSG00000175182)

Protein

Protein identifiers

Protein FAM131C — Q96AQ9 (reviewed: Q96AQ9)

All UniProt accessions (1): Q96AQ9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM131 family.

RefSeq proteins (1): NP_872429* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026782	FAM131	Family

Pfam: PF15010

UniProt features (10 total): sequence variant 5, compositionally biased region 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96AQ9-F1	58.40	0.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 33 (showing top): GGGTGGRR_PAX4_03, chr1p36, MARTENS_TRETINOIN_RESPONSE_UP, CACBINDINGPROTEIN_Q6, CSR_LATE_UP.V1_DN, IGLV5_37_TARGET_GENES, RYBP_TARGET_GENES, MIR4728_5P, MIR6785_5P, MIR149_3P, MIR6883_5P, MIR6127, MIR6129, MIR6133, MIR4510

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

318 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM131C	PRAMEF18	Q5VWM3	582
FAM131C	TMEM82	A0PJX8	578
FAM131C	PRAMEF7	Q5VXH5	574
FAM131C	PPIAL4D	F5H284	570
FAM131C	NIPAL3	Q6P499	527
FAM131C	MAN1C1	Q9NR34	502
FAM131C	DRICH1	Q6PGQ1	480
FAM131C	C22orf42	Q6IC83	480
FAM131C	HR	O43593	477
FAM131C	STK32B	Q9NY57	436
FAM131C	STK32A	Q8WU08	433
FAM131C	SLC25A34	Q6PIV7	429
FAM131C	FAM13C	Q8NE31	427
FAM131C	ZBTB40	Q9NUA8	422
FAM131C	PRAMEF1	O95521	418

IntAct

35 interactions, top by confidence:

A	B	Type	Score
FAM131C	VSNL1	psi-mi:“MI:0915”(physical association)	0.780
VSNL1	FAM131C	psi-mi:“MI:0915”(physical association)	0.780
FAM131C	HPCAL4	psi-mi:“MI:0915”(physical association)	0.720
GRN	FAM131C	psi-mi:“MI:0915”(physical association)	0.670
LMO3	FAM131C	psi-mi:“MI:0915”(physical association)	0.560
FAM131C		psi-mi:“MI:0915”(physical association)	0.560
FAM131C	LMO3	psi-mi:“MI:0915”(physical association)	0.560
	FAM131C	psi-mi:“MI:0915”(physical association)	0.560
GRN	FAM131C	psi-mi:“MI:0915”(physical association)	0.560
NDN	FAM131C	psi-mi:“MI:0915”(physical association)	0.370
DNAJA3	FAM131C	psi-mi:“MI:0915”(physical association)	0.370
EWSR1	FAM131C	psi-mi:“MI:0915”(physical association)	0.370
MAD1L1	FAM131C	psi-mi:“MI:0915”(physical association)	0.370
FAM131C	UNC119B	psi-mi:“MI:0914”(association)	0.350

BioGRID (22): FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), HPCAL4 (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), FAM131C (Two-hybrid), ACVR2A (Affinity Capture-MS), AGPAT2 (Affinity Capture-MS)

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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	47
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
915980	GRCh37/hg19 1p36.13(chr1:16372179-16388605)	Pathogenic

SpliceAI

1202 predictions. Top by Δscore:

Variant	Effect	Δscore
1:16059489:TGTA:T	donor_loss	1.0000
1:16059490:GTAC:G	donor_loss	1.0000
1:16059491:TACC:T	donor_loss	1.0000
1:16059492:A:AC	donor_gain	1.0000
1:16059493:C:CC	donor_gain	1.0000
1:16059600:GACCC:G	acceptor_gain	1.0000
1:16059602:CCC:C	acceptor_gain	1.0000
1:16059603:CC:C	acceptor_gain	1.0000
1:16059603:CCC:C	acceptor_gain	1.0000
1:16059604:CC:C	acceptor_gain	1.0000
1:16059605:C:CC	acceptor_gain	1.0000
1:16059605:C:T	acceptor_gain	1.0000
1:16059605:CTG:C	acceptor_loss	1.0000
1:16059866:GAC:G	donor_loss	1.0000
1:16059867:ACCT:A	donor_loss	1.0000
1:16059868:C:CG	donor_loss	1.0000
1:16059889:CGCAG:C	donor_gain	1.0000
1:16060047:CACCC:C	acceptor_gain	1.0000
1:16060048:ACCC:A	acceptor_gain	1.0000
1:16060049:CCC:C	acceptor_gain	1.0000
1:16060049:CCCC:C	acceptor_gain	1.0000
1:16060050:CCC:C	acceptor_gain	1.0000
1:16060052:C:CC	acceptor_gain	1.0000
1:16060052:CT:C	acceptor_loss	1.0000
1:16062097:A:AC	donor_gain	1.0000
1:16062097:AC:A	donor_gain	1.0000
1:16062098:C:CC	donor_gain	1.0000
1:16062098:CC:C	donor_gain	1.0000
1:16062098:CCCA:C	donor_gain	1.0000
1:16062188:CACCT:C	acceptor_gain	1.0000

AlphaMissense

1831 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:16059588:A:C	F156L	0.998
1:16059588:A:T	F156L	0.998
1:16059590:A:G	F156L	0.998
1:16059589:A:G	F156S	0.997
1:16059972:C:A	W116C	0.997
1:16059972:C:G	W116C	0.997
1:16059974:A:G	W116R	0.996
1:16059974:A:T	W116R	0.996
1:16062116:G:T	A84D	0.996
1:16059589:A:C	F156C	0.995
1:16059982:A:G	L113P	0.995
1:16059575:C:G	A161P	0.994
1:16059877:A:G	F148S	0.994
1:16059979:A:T	I114N	0.993
1:16059874:G:T	A149D	0.992
1:16059876:A:C	F148L	0.992
1:16059876:A:T	F148L	0.992
1:16059878:A:G	F148L	0.992
1:16059560:A:G	W166R	0.991
1:16059560:A:T	W166R	0.991
1:16060032:C:A	K96N	0.991
1:16060032:C:G	K96N	0.991
1:16059601:A:T	V152D	0.989
1:16060017:C:A	K101N	0.989
1:16060017:C:G	K101N	0.989
1:16059599:C:G	A153P	0.988
1:16059986:G:C	H112D	0.988
1:16059988:G:T	A111D	0.988
1:16059586:G:T	A157D	0.987
1:16059598:G:T	A153D	0.987

dbSNP variants (sampled 300 via entrez): RS1000048319 (1:16061710 G>T), RS1000091630 (1:16070558 G>A), RS1000318520 (1:16065422 C>T), RS1000382845 (1:16072264 C>T), RS1000415527 (1:16072092 C>A,T), RS1000917367 (1:16068295 G>A), RS1000983510 (1:16068114 G>T), RS1001103263 (1:16069308 G>A), RS1001551271 (1:16063155 TATAA>T), RS1001597918 (1:16072691 C>G), RS1001699890 (1:16067361 G>T), RS1001723826 (1:16064587 C>A), RS1001938013 (1:16069990 C>T), RS1002323145 (1:16074967 T>C), RS1002540254 (1:16068701 G>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:607364

GenCC curated gene-disease

Mondo (1): Bartter disease type 3 (MONDO:0011822)

Orphanet (2): Bartter syndrome (Orphanet:112), Bartter syndrome type 3 (Orphanet:93605)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000477_46	Cognitive performance	6.000000e-06
GCST007448_18	Normal facial asymmetry (angle of surface orientation score)	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0009751	facial asymmetry measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
ethyl-p-hydroxybenzoate	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Lead	affects expression	1
Niclosamide	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Rotenone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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