FAM90A14

Summary

FAM90A14 (family with sequence similarity 90 member A14, HGNC:32262) is a protein-coding gene on chromosome 8p23.1, encoding Protein FAM90A14 (P0C7W9).

FAM90A14 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 645651 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001164452

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32262
Approved symbol	FAM90A14
Name	family with sequence similarity 90 member A14
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000285814
Ensembl biotype	protein_coding
OMIM	613050
Entrez	645651

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000648315

RefSeq mRNA: 1 — MANE Select: NM_001164452 NM_001164452

Canonical transcript exons

ENST00000648315 — 4 exons

Exon	Start	End
ENSE00003831911	7717491	7718453
ENSE00003834749	7716718	7716826
ENSE00003834899	7715443	7715565
ENSE00003838108	7716060	7716259

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 78.97.

Top tissues by expression

96 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	78.97	silver quality
cortical plate	UBERON:0005343	44.58	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.07	gold quality
skeletal muscle tissue	UBERON:0001134	36.54	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
muscle tissue	UBERON:0002385	35.56	gold quality
tonsil	UBERON:0002372	34.99	gold quality
mucosa of transverse colon	UBERON:0004991	34.39	gold quality
bone marrow	UBERON:0002371	32.78	gold quality
urinary bladder	UBERON:0001255	32.61	gold quality
smooth muscle tissue	UBERON:0001135	32.51	gold quality
monocyte	CL:0000576	32.43	gold quality
duodenum	UBERON:0002114	32.33	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
prefrontal cortex	UBERON:0000451	32.02	gold quality
leukocyte	CL:0000738	31.99	gold quality
mucosa of stomach	UBERON:0001199	31.76	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.77	gold quality
rectum	UBERON:0001052	29.32	gold quality
placenta	UBERON:0001987	29.11	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.69	gold quality
lymph node	UBERON:0000029	28.68	gold quality
gall bladder	UBERON:0002110	28.37	gold quality
calcaneal tendon	UBERON:0003701	28.33	gold quality
muscle of leg	UBERON:0001383	27.91	gold quality
superior frontal gyrus	UBERON:0002661	27.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.14

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), FAM90A18 (ENSG00000285913), FAM90A8 (ENSG00000285937), FAM90A10 (ENSG00000285950), FAM90A7 (ENSG00000285975)

Protein

Protein identifiers

Protein FAM90A14 — P0C7W9 (reviewed: P0C7W9)

All UniProt accessions (1): P0C7W9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM90 family.

RefSeq proteins (1): NP_001157924* (*=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-P0C7W9-F1	50.55	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, 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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2997 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:7716111:T:C	C59R	0.988
8:7716066:T:A	C44S	0.987
8:7716067:G:C	C44S	0.987
8:7716084:T:C	F50L	0.986
8:7716086:T:A	F50L	0.986
8:7716086:T:G	F50L	0.986
8:7716092:C:A	H52Q	0.985
8:7716092:C:G	H52Q	0.985
8:7716075:T:A	C47S	0.983
8:7716076:G:C	C47S	0.983
8:7716111:T:A	C59S	0.982
8:7716112:G:C	C59S	0.982
8:7716076:G:A	C47Y	0.979
8:7716066:T:C	C44R	0.978
8:7716088:G:A	G51D	0.978
8:7716075:T:C	C47R	0.973
8:7716102:A:C	S56R	0.972
8:7716104:T:A	S56R	0.972
8:7716104:T:G	S56R	0.972
8:7716065:G:C	K43N	0.971
8:7716065:G:T	K43N	0.971
8:7716076:G:T	C47F	0.970
8:7716068:C:G	C44W	0.969
8:7716088:G:T	G51V	0.964
8:7716077:C:G	C47W	0.962
8:7718268:T:A	W404R	0.962
8:7718268:T:C	W404R	0.962
8:7716067:G:A	C44Y	0.960
8:7716113:C:G	C59W	0.960
8:7716067:G:T	C44F	0.958

dbSNP variants (sampled 300 via entrez): RS1014337714 (8:7713841 T>A), RS1024339935 (8:7714252 G>C,T), RS111441325 (8:7715624 G>C), RS111506691 (8:7718171 C>T), RS112300244 (8:7715090 A>G), RS113385906 (8:7715419 T>G), RS113707332 (8:7717546 C>A,T), RS1156896972 (8:7716325 A>G), RS1157491832 (8:7717568 T>A), RS1158055810 (8:7716789 A>G), RS1158486887 (8:7717785 G>T), RS1158601985 (8:7716924 C>G), RS1158647323 (8:7714492 G>A,T), RS1158684890 (8:7716289 T>C), RS1158850465 (8:7714522 C>G,T)

Disease associations

OMIM: gene MIM:613050 | 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.