FAM90A5

Summary

FAM90A5 (family with sequence similarity 90 member A5, HGNC:32253) is a protein-coding gene on chromosome 8p23.1, encoding Protein FAM90A5 (A8MXJ8).

FAM90A5 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 441315 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001423529

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32253
Approved symbol	FAM90A5
Name	family with sequence similarity 90 member A5
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215373
Ensembl biotype	protein_coding
OMIM	613043
Entrez	441315

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000528738

RefSeq mRNA: 1 — MANE Select: NM_001423529 NM_001423529

Canonical transcript exons

ENST00000528738 — 4 exons

Exon	Start	End
ENSE00002158401	7289440	7290402
ENSE00002177974	7288667	7288775
ENSE00003614931	7288009	7288208
ENSE00003658332	7287392	7287514

Expression profiles

Bgee: expression breadth broad, 14 present calls, max score 82.88.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.88	gold quality
cortical plate	UBERON:0005343	39.82	gold quality
bone marrow cell	CL:0002092	37.95	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.07	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.54	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
mucosa of stomach	UBERON:0001199	34.46	gold quality
bone marrow	UBERON:0002371	33.80	gold quality
mucosa of transverse colon	UBERON:0004991	33.68	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	33.22	gold quality
smooth muscle tissue	UBERON:0001135	32.44	gold quality
duodenum	UBERON:0002114	32.33	gold quality
tonsil	UBERON:0002372	32.19	gold quality
placenta	UBERON:0001987	31.59	silver quality
leukocyte	CL:0000738	31.23	gold quality
monocyte	CL:0000576	31.07	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
prefrontal cortex	UBERON:0000451	30.31	gold quality
liver	UBERON:0002107	29.90	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
urinary bladder	UBERON:0001255	29.66	gold quality
lymph node	UBERON:0000029	28.68	gold quality
gall bladder	UBERON:0002110	28.38	gold quality
muscle of leg	UBERON:0001383	27.84	gold quality
left uterine tube	UBERON:0001303	27.83	silver quality
blood	UBERON:0000178	27.81	gold quality
primary visual cortex	UBERON:0002436	27.66	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.10

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), FAM90A13 (ENSG00000223885), FAM90A26 (ENSG00000229924), FAM90A15 (ENSG00000230045), FAM90A11 (ENSG00000233115), FAM90A3 (ENSG00000233132), FAM90A20 (ENSG00000233295), 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 FAM90A5 — A8MXJ8 (reviewed: A8MXJ8)

All UniProt accessions (1): A8MXJ8

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_001410458* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039213	FAM90	Family
IPR041670	Znf-CCHC_6	Domain

Pfam: PF15288

UniProt features (7 total): region of interest 3, compositionally biased region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MXJ8-F1	49.93	0.04

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

3 interactions, top by confidence:

A	B	Type	Score
FAM90A1	RFPL4A	psi-mi:“MI:0914”(association)	0.530

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:613043 | 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)

Clinical trials (associated diseases)

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