FAM90A12

Summary

FAM90A12 (family with sequence similarity 90 member A12, HGNC:32260) is a protein-coding gene on chromosome 8p23.1, encoding Protein FAM90A12 (A8MX19).

FAM90A12 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 645879 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001423531

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32260
Approved symbol	FAM90A12
Name	family with sequence similarity 90 member A12
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000254229
Ensembl biotype	protein_coding
OMIM	613048
Entrez	645879

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000519497

RefSeq mRNA: 3 — MANE Select: NM_001423531 NM_001421769, NM_001421778, NM_001423531

Canonical transcript exons

ENST00000519497 — 4 exons

Exon	Start	End
ENSE00002114069	8030524	8030646
ENSE00002194587	8027636	8028598
ENSE00003480131	8029830	8030029
ENSE00003490163	8029263	8029371

Expression profiles

Bgee: expression breadth broad, 61 present calls, max score 57.67.

Top tissues by expression

95 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	57.67	gold quality
sural nerve	UBERON:0015488	52.94	silver quality
right uterine tube	UBERON:0001302	51.60	gold quality
ganglionic eminence	UBERON:0004023	45.51	gold quality
ventricular zone	UBERON:0003053	44.65	gold quality
right ovary	UBERON:0002118	42.71	gold quality
mucosa of transverse colon	UBERON:0004991	42.54	silver quality
right hemisphere of cerebellum	UBERON:0014890	42.24	silver quality
left ovary	UBERON:0002119	41.73	silver quality
ovary	UBERON:0000992	41.65	gold quality
skeletal muscle tissue	UBERON:0001134	41.65	gold quality
nucleus accumbens	UBERON:0001882	41.63	silver quality
superior frontal gyrus	UBERON:0002661	41.47	silver quality
body of uterus	UBERON:0009853	41.12	gold quality
pituitary gland	UBERON:0000007	40.91	gold quality
monocyte	CL:0000576	40.87	silver quality
urinary bladder	UBERON:0001255	40.71	gold quality
cortical plate	UBERON:0005343	40.57	silver quality
primary visual cortex	UBERON:0002436	40.36	gold quality
leukocyte	CL:0000738	40.23	silver quality
right frontal lobe	UBERON:0002810	40.11	gold quality
left uterine tube	UBERON:0001303	39.95	silver quality
frontal cortex	UBERON:0001870	39.75	gold quality
adenohypophysis	UBERON:0002196	39.62	silver quality
stromal cell of endometrium	CL:0002255	39.56	gold quality
prefrontal cortex	UBERON:0000451	39.54	silver quality
brain	UBERON:0000955	39.23	silver quality
smooth muscle tissue	UBERON:0001135	39.23	silver quality
hypothalamus	UBERON:0001898	39.22	silver quality
caudate nucleus	UBERON:0001873	39.03	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.49

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), 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 FAM90A12 — A8MX19 (reviewed: A8MX19)

Alternative names: Protein FAM90A12P

All UniProt accessions (1): A8MX19

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 (3): NP_001408698, NP_001408707, NP_001410460* (*=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-A8MX19-F1	50.38	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

1 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	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:613048 | 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.