FAM237A

Summary

FAM237A (family with sequence similarity 237 member A, HGNC:52388) is a protein-coding gene on chromosome 2q33.3, encoding Protein FAM237A (A0A1B0GTK4). May be capable of activating GPR83 via the GNAQ signaling pathway.

Predicted to be located in extracellular region.

Source: NCBI Gene 200726 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001102659

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52388
Approved symbol	FAM237A
Name	family with sequence similarity 237 member A
Location	2q33.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000235118
Ensembl biotype	protein_coding
Entrez	200726

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000441223, ENST00000453816, ENST00000864981

RefSeq mRNA: 1 — MANE Select: NM_001102659 NM_001102659

CCDS: CCDS82560

Canonical transcript exons

ENST00000441223 — 3 exons

Exon	Start	End
ENSE00001602854	206648661	206649365
ENSE00002301741	206642487	206642582
ENSE00003715593	206644227	206644648

Expression profiles

Bgee: expression breadth broad, 59 present calls, max score 98.99.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	98.99	gold quality
primary visual cortex	UBERON:0002436	65.37	gold quality
nucleus accumbens	UBERON:0001882	62.92	gold quality
caudate nucleus	UBERON:0001873	62.84	gold quality
putamen	UBERON:0001874	62.20	gold quality
apex of heart	UBERON:0002098	61.90	gold quality
superior frontal gyrus	UBERON:0002661	59.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	57.60	gold quality
prefrontal cortex	UBERON:0000451	57.10	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	55.96	gold quality
heart left ventricle	UBERON:0002084	55.78	gold quality
frontal cortex	UBERON:0001870	55.06	gold quality
anterior cingulate cortex	UBERON:0009835	53.77	gold quality
cerebral cortex	UBERON:0000956	53.64	gold quality
right frontal lobe	UBERON:0002810	51.88	gold quality
brain	UBERON:0000955	49.80	gold quality
pituitary gland	UBERON:0000007	48.92	gold quality
left testis	UBERON:0004533	48.35	gold quality
testis	UBERON:0000473	46.65	gold quality
heart	UBERON:0000948	46.37	gold quality
Ammon’s horn	UBERON:0001954	46.37	gold quality
right testis	UBERON:0004534	45.80	gold quality
adenohypophysis	UBERON:0002196	44.87	gold quality
temporal lobe	UBERON:0001871	44.24	gold quality
amygdala	UBERON:0001876	44.06	gold quality
hypothalamus	UBERON:0001898	43.92	gold quality
islet of Langerhans	UBERON:0000006	43.07	gold quality
right atrium auricular region	UBERON:0006631	42.07	gold quality
cortical plate	UBERON:0005343	40.78	silver quality
ganglionic eminence	UBERON:0004023	39.64	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting FAM237A, 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-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-4764-5P	98.88	65.53	894

Literature-anchored findings (GeneRIF, showing 1)

• A Pilot Screen of a Novel Peptide Hormone Library Identified Candidate GPR83 Ligands. (PMID:32713278)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam237a	ENSMUSG00000115378
rattus_norvegicus	Fam237a	ENSRNOG00000054699

Paralogs (1): FAM237B (ENSG00000283267)

Protein

Protein identifiers

Protein FAM237A — A0A1B0GTK4 (reviewed: A0A1B0GTK4)

All UniProt accessions (1): A0A1B0GTK4

UniProt curated annotations — full annotation on UniProt →

Function. May be capable of activating GPR83 via the GNAQ signaling pathway.

Subcellular location. Secreted.

Tissue specificity. Expressed in the pituitary, testis, and heart and at lower levels in the brain.

Post-translational modifications. The active form requires C-terminal amidation and disulfide bond formation.

RefSeq proteins (1): NP_001096129* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040439	FAM237A/B	Family

UniProt features (4 total): signal peptide 1, chain 1, propeptide 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTK4-F1	64.86	0.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 113

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): E2F5_TARGET_GENES, LMTK3_TARGET_GENES, MIER1_TARGET_GENES, MIR3658, MIR3143, MIR518C_5P, MIR3977, MIR1260A_MIR1260B, MIR324_5P, HMGB2_TARGET_GENES, ZNF490_TARGET_GENES, chr2q33

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

52 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM237A	ACSBG2	Q5FVE4	473
FAM237A	ADGRB1	O14514	428
FAM237A	GPR83	Q9NYM4	419
FAM237A	ACSL3	O95573	362
FAM237A	ACSL1	P33121	300
FAM237A	PPARD	Q03181	284
FAM237A	CCNG1	P51959	271
FAM237A	SPX	Q9BT56	248
FAM237A	CCNB2	O95067	247
FAM237A	POMC	P01189	247
FAM237A	PPARA	Q07869	204
FAM237A	B3GALNT1	O75752	203
FAM237A	GADD45A	P24522	200
FAM237A	MC3R	P41968	175
FAM237A	CASP8	Q14790	172

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0B4J1N3, A0A1B0GTK4, A0A1B0GTR0, A0JNL8, A2RUT3, A4IFR0, C9JUS6, D3ZKM3, E9PXB6, F2Z3F1, O70899, O71302, O93195, O95411, P03165, P04610, P0C7M3, P12912, P13206, P20976, P20977, P29560, P47939, P47940, P69714, Q02919, Q08648, Q1RN00, Q1WG82, Q5PR19, Q66669, Q67923, Q69027, Q69604, Q6PDA7, Q6UWK7, Q80IU5, Q80IU8, Q8N5N4, Q913A9

Diamond homologs: A0A1B0GTK4, A0A1B0GVD1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1191 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:206644455:G:C	W73C	0.987
2:206644455:G:T	W73C	0.987
2:206644386:G:C	W50C	0.985
2:206644386:G:T	W50C	0.985
2:206644507:T:C	F91L	0.983
2:206644509:T:A	F91L	0.983
2:206644509:T:G	F91L	0.983
2:206644528:T:C	F98L	0.983
2:206644530:C:A	F98L	0.983
2:206644530:C:G	F98L	0.983
2:206644472:T:C	L79P	0.978
2:206644453:T:A	W73R	0.974
2:206644453:T:C	W73R	0.974
2:206644533:G:C	W99C	0.973
2:206644533:G:T	W99C	0.973
2:206644381:T:A	C49S	0.972
2:206644382:G:C	C49S	0.972
2:206644464:G:A	M76I	0.970
2:206644464:G:C	M76I	0.970
2:206644464:G:T	M76I	0.970
2:206644529:T:C	F98S	0.970
2:206644529:T:G	F98C	0.970
2:206644531:T:A	W99R	0.969
2:206644531:T:C	W99R	0.969
2:206644381:T:C	C49R	0.965
2:206644451:T:C	F72S	0.959
2:206644508:T:G	F91C	0.959
2:206644549:T:C	C105R	0.959
2:206644517:T:C	L94P	0.957
2:206644549:T:A	C105S	0.955

dbSNP variants (sampled 300 via entrez): RS1000425056 (2:206649083 A>G), RS1001254571 (2:206643327 G>A), RS1001352573 (2:206643135 C>G), RS1001417776 (2:206649863 A>G,T), RS1001864573 (2:206647947 T>G), RS1002148893 (2:206645414 C>T), RS1003536564 (2:206646487 C>G), RS1003869808 (2:206644736 G>A,C), RS1005192269 (2:206645459 T>C), RS1005226677 (2:206645770 A>C), RS1005612503 (2:206642056 G>A), RS1005707208 (2:206641815 G>A,T), RS1006001780 (2:206640806 G>T), RS1006055727 (2:206640515 T>C), RS1006111889 (2:206646685 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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