FAM90A8

Summary

FAM90A8 (family with sequence similarity 90 member A8, HGNC:32256) is a protein-coding gene on chromosome 8p23.1, encoding Protein FAM90A8 (A6NJQ4).

FAM90A8 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 441324 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001164450

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32256
Approved symbol	FAM90A8
Name	family with sequence similarity 90 member A8
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000285937
Ensembl biotype	protein_coding
OMIM	613045
Entrez	441324

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000647775

RefSeq mRNA: 1 — MANE Select: NM_001164450 NM_001164450

Canonical transcript exons

ENST00000647775 — 4 exons

Exon	Start	End
ENSE00003835594	7739661	7739769
ENSE00003838207	7738387	7738509
ENSE00003838924	7739004	7739203
ENSE00003840402	7740434	7741396

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 39.82.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	39.82	gold quality
bone marrow cell	CL:0002092	38.12	gold quality
sural nerve	UBERON:0015488	37.47	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
skeletal muscle tissue	UBERON:0001134	36.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.32	gold quality
muscle tissue	UBERON:0002385	33.31	gold quality
bone marrow	UBERON:0002371	32.75	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.50	gold quality
tonsil	UBERON:0002372	28.82	gold quality
liver	UBERON:0002107	28.78	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.12	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	25.31	gold quality
leukocyte	CL:0000738	25.28	gold quality
monocyte	CL:0000576	25.05	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
gastrocnemius	UBERON:0001388	24.12	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.96	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), FAM90A17 (ENSG00000285720), FAM90A23 (ENSG00000285765), FAM90A14 (ENSG00000285814), FAM90A18 (ENSG00000285913), FAM90A10 (ENSG00000285950), FAM90A7 (ENSG00000285975)

Protein

Protein identifiers

Protein FAM90A8 — A6NJQ4 (reviewed: A6NJQ4)

All UniProt accessions (1): A6NJQ4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM90 family.

RefSeq proteins (1): NP_001157922* (*=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-A6NJQ4-F1	49.92	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

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

2997 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:7739028:T:C	F50L	0.966
8:7739030:T:A	F50L	0.966
8:7739030:T:G	F50L	0.966
8:7739036:C:A	H52Q	0.955
8:7739036:C:G	H52Q	0.955
8:7739055:T:C	C59R	0.955
8:7741187:T:C	F396L	0.949
8:7741189:C:A	F396L	0.949
8:7741189:C:G	F396L	0.949
8:7741211:T:A	W404R	0.945
8:7741211:T:C	W404R	0.945
8:7739010:T:A	C44S	0.943
8:7739011:G:C	C44S	0.943
8:7739055:T:A	C59S	0.940
8:7739056:G:C	C59S	0.940
8:7739019:T:A	C47S	0.931
8:7739020:G:C	C47S	0.931
8:7739009:G:C	K43N	0.928
8:7739009:G:T	K43N	0.928
8:7739046:A:C	S56R	0.925
8:7739048:T:A	S56R	0.925
8:7739048:T:G	S56R	0.925
8:7739020:G:A	C47Y	0.917
8:7739032:G:A	G51D	0.915
8:7741213:G:C	W404C	0.915
8:7741213:G:T	W404C	0.915
8:7741188:T:C	F396S	0.912
8:7739010:T:C	C44R	0.903
8:7739019:T:C	C47R	0.900
8:7739057:C:G	C59W	0.888

dbSNP variants (sampled 300 via entrez): RS1156280928 (8:7738497 A>C), RS1158693183 (8:7741233 C>A), RS1158958932 (8:7741783 A>T), RS1159440761 (8:7741634 A>C), RS1159959573 (8:7741067 G>GCTGTCTCTTA), RS1160942475 (8:7738556 CGGGGGGA>C), RS1161384294 (8:7741739 G>A,C,T), RS1161623081 (8:7738819 G>A), RS1162187534 (8:7741480 C>T), RS1162379595 (8:7738180 G>A,C), RS1162534297 (8:7739244 C>G,T), RS1163407781 (8:7739760 T>G), RS1164603629 (8:7739096 C>G), RS1164670132 (8:7738558 G>A,C,T), RS1165002251 (8:7739141 C>A,T)

Disease associations

OMIM: gene MIM:613045 | 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.