FAM90A17

Summary

FAM90A17 (family with sequence similarity 90 member A17, HGNC:32265) is a protein-coding gene on chromosome 8p23.1, encoding Protein FAM90A17 (P0DV74).

At a glance

• Clinical variants (ClinVar): 2 total — 1 pathogenic
• MANE Select transcript: NM_001397391

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32265
Approved symbol	FAM90A17
Name	family with sequence similarity 90 member A17
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000285720
Ensembl biotype	protein_coding
Entrez	728746

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000650426

RefSeq mRNA: 1 — MANE Select: NM_001397391 NM_001397391

CCDS: CCDS94254

Canonical transcript exons

ENST00000650426 — 4 exons

Exon	Start	End
ENSE00003833722	7747309	7747417
ENSE00003836697	7746651	7746850
ENSE00003837429	7748082	7749044
ENSE00003838119	7746034	7746156

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 43.87.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	43.87	silver quality
cortical plate	UBERON:0005343	39.82	gold quality
bone marrow cell	CL:0002092	38.12	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.07	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.32	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.75	gold quality
duodenum	UBERON:0002114	32.32	gold quality
muscle tissue	UBERON:0002385	32.19	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.50	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.75	gold quality
liver	UBERON:0002107	28.58	gold quality
gall bladder	UBERON:0002110	28.36	gold quality
lymph node	UBERON:0000029	27.57	gold quality
smooth muscle tissue	UBERON:0001135	27.54	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.88	gold quality
urinary bladder	UBERON:0001255	26.65	gold quality
leukocyte	CL:0000738	26.64	gold quality
monocyte	CL:0000576	26.54	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.38	gold quality
right coronary artery	UBERON:0001625	26.20	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	25.72	gold quality
calcaneal tendon	UBERON:0003701	24.84	gold quality
frontal cortex	UBERON:0001870	24.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

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), FAM90A20 (ENSG00000233295), FAM90A12 (ENSG00000254229), FAM90A9 (ENSG00000285607), FAM90A16 (ENSG00000285620), FAM90A19 (ENSG00000285657), FAM90A22 (ENSG00000285687), FAM90A23 (ENSG00000285765), FAM90A14 (ENSG00000285814), FAM90A18 (ENSG00000285913), FAM90A8 (ENSG00000285937), FAM90A10 (ENSG00000285950), FAM90A7 (ENSG00000285975)

Protein

Protein identifiers

Protein FAM90A17 — P0DV74 (reviewed: P0DV74)

All UniProt accessions (1): P0DV74

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM90 family.

RefSeq proteins (1): NP_001384320* (*=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-P0DV74-F1	50.75	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

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A6NDY2, A6NIJ5, A6NJQ4, A6NKC0, A6NNH2, A6NNJ1, A8MUA0, A8MWA6, A8MX19, A8MXJ8, A8MXZ1, A8MYA2, B1ASB6, D6RGX4, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV73, P0DV74, P0DV75, P0DV76, Q0VDD7, Q2KIS6, Q3UHD3, Q4R736, Q5SZB4, Q5T8A7, Q5VZ46, Q5XIK6, Q658T7, Q6A025, Q6NTE8, Q6PIX9, Q6ZMY3, Q86Y26, Q86YD7

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

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2995 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:7746675:T:C	F50L	0.980
8:7746677:T:A	F50L	0.980
8:7746677:T:G	F50L	0.980
8:7746702:T:C	C59R	0.978
8:7746657:T:A	C44S	0.972
8:7746658:G:C	C44S	0.972
8:7746683:C:A	H52Q	0.969
8:7746683:C:G	H52Q	0.969
8:7746702:T:A	C59S	0.969
8:7746703:G:C	C59S	0.969
8:7746666:T:A	C47S	0.967
8:7746667:G:C	C47S	0.967
8:7746656:G:C	K43N	0.960
8:7746656:G:T	K43N	0.960
8:7746667:G:A	C47Y	0.960
8:7746693:A:C	S56R	0.958
8:7746695:T:A	S56R	0.958
8:7746695:T:G	S56R	0.958
8:7748835:T:C	F396L	0.957
8:7748837:C:A	F396L	0.957
8:7748837:C:G	F396L	0.957
8:7746657:T:C	C44R	0.953
8:7748859:T:A	W404R	0.950
8:7748859:T:C	W404R	0.950
8:7746667:G:T	C47F	0.949
8:7746666:T:C	C47R	0.948
8:7746679:G:A	G51D	0.941
8:7746668:C:G	C47W	0.937
8:7746704:C:G	C59W	0.937
8:7746659:C:G	C44W	0.930

dbSNP variants (sampled 114 via entrez): RS112686213 (8:7745151 T>G), RS1174758880 (8:7745544 A>G), RS1310110260 (8:7745209 G>A), RS1554575539 (8:7744627 G>A), RS1554575541 (8:7744686 A>G), RS1554575543 (8:7744772 T>C), RS1554575544 (8:7746002 A>G), RS1554575545 (8:7746104 G>A), RS1554575548 (8:7746109 G>T), RS1554575549 (8:7746122 C>G), RS1554575550 (8:7746133 C>T), RS1554575551 (8:7746163 C>G), RS1554575553 (8:7746172 G>C), RS1554575554 (8:7746176 T>A), RS1554575556 (8:7746187 G>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)

Clinical trials (associated diseases)

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