FAM90A20

Summary

FAM90A20 (family with sequence similarity 90 member A20, HGNC:32268) is a protein-coding gene on chromosome 8p23.1, encoding Protein FAM90A20 (A6NIJ5).

FAM90A20 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).

Source: NCBI Gene 728430 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_001423532

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32268
Approved symbol	FAM90A20
Name	family with sequence similarity 90 member A20
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000233295
Ensembl biotype	protein_coding
OMIM	613054
Entrez	728430

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000528221

RefSeq mRNA: 1 — MANE Select: NM_001423532 NM_001423532

Canonical transcript exons

ENST00000528221 — 4 exons

Exon	Start	End
ENSE00002156952	7295631	7295830
ENSE00002163603	7297062	7298024
ENSE00002166124	7296289	7296397
ENSE00002171650	7295014	7295136

Expression profiles

Bgee: expression breadth broad, 91 present calls, max score 53.11.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	53.11	gold quality
right uterine tube	UBERON:0001302	50.20	gold quality
cortical plate	UBERON:0005343	49.45	gold quality
primary visual cortex	UBERON:0002436	47.94	gold quality
left ovary	UBERON:0002119	47.58	gold quality
apex of heart	UBERON:0002098	47.11	gold quality
colonic epithelium	UBERON:0000397	46.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	46.50	gold quality
Brodmann (1909) area 9	UBERON:0013540	46.00	gold quality
ovary	UBERON:0000992	45.45	gold quality
substantia nigra	UBERON:0002038	45.30	gold quality
urinary bladder	UBERON:0001255	45.24	gold quality
Ammon’s horn	UBERON:0001954	44.98	gold quality
right coronary artery	UBERON:0001625	44.01	silver quality
right frontal lobe	UBERON:0002810	43.82	gold quality
amygdala	UBERON:0001876	43.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	43.63	silver quality
temporal lobe	UBERON:0001871	43.45	gold quality
zone of skin	UBERON:0000014	43.17	gold quality
skin of leg	UBERON:0001511	43.15	gold quality
skeletal muscle tissue	UBERON:0001134	43.10	silver quality
skin of abdomen	UBERON:0001416	42.94	gold quality
ascending aorta	UBERON:0001496	42.83	silver quality
prostate gland	UBERON:0002367	42.69	gold quality
pituitary gland	UBERON:0000007	42.60	gold quality
body of uterus	UBERON:0009853	42.56	gold quality
right atrium auricular region	UBERON:0006631	42.49	gold quality
descending thoracic aorta	UBERON:0002345	42.46	gold quality
bone marrow cell	CL:0002092	42.45	gold quality
cerebellum	UBERON:0002037	42.44	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.13

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam90a1b	ENSMUSG00000043549
mus_musculus	Fam90a1a	ENSMUSG00000079112
rattus_norvegicus	Fam90a1l1	ENSRNOG00000064072

Paralogs (21): FAM90A1 (ENSG00000171847), FAM90A27P (ENSG00000189348), FAM90A24 (ENSG00000215354), FAM90A5 (ENSG00000215373), FAM90A13 (ENSG00000223885), FAM90A26 (ENSG00000229924), FAM90A15 (ENSG00000230045), FAM90A11 (ENSG00000233115), FAM90A3 (ENSG00000233132), FAM90A12 (ENSG00000254229), FAM90A9 (ENSG00000285607), FAM90A16 (ENSG00000285620), FAM90A19 (ENSG00000285657), FAM90A22 (ENSG00000285687), FAM90A17 (ENSG00000285720), FAM90A23 (ENSG00000285765), FAM90A14 (ENSG00000285814), FAM90A18 (ENSG00000285913), FAM90A8 (ENSG00000285937), FAM90A10 (ENSG00000285950), FAM90A7 (ENSG00000285975)

Protein

Protein identifiers

Protein FAM90A20 — A6NIJ5 (reviewed: A6NIJ5)

Alternative names: Protein FAM90A20P

All UniProt accessions (1): A6NIJ5

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. Primate-specific FAM90A gene family, thought to have arisen during multiple duplication and rearrangement events.

Similarity. Belongs to the FAM90 family.

RefSeq proteins (1): NP_001410461* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039213	FAM90	Family
IPR041670	Znf-CCHC_6	Domain

Pfam: PF15288

UniProt features (10 total): region of interest 6, compositionally biased region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NIJ5-F1	50.87	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr8p23

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: A0A8V8TNH8, A0A8V8TPE2, A6NDY2, A6NIJ5, A6NJQ4, A6NKC0, A6NNH2, A6NNJ1, A8MWA6, A8MX19, A8MXJ8, A8MXZ1, D6RGX4, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV73, P0DV74, P0DV75, P0DV76, Q658T7, Q86YD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:613054 | 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

2 total (human), top 2 by PubMed support.

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

Clinical trials (associated diseases)

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