FAM90A13

Summary

FAM90A13 (family with sequence similarity 90 member A13, HGNC:32261) is a protein-coding gene on chromosome 8p23.1, encoding Protein FAM90A13 (P0C7W8).

FAM90A13 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 441314 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001423526

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32261
Approved symbol	FAM90A13
Name	family with sequence similarity 90 member A13
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000223885
Ensembl biotype	protein_coding
OMIM	613049
Entrez	441314

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000534703

RefSeq mRNA: 1 — MANE Select: NM_001423526 NM_001423526

Canonical transcript exons

ENST00000534703 — 4 exons

Exon	Start	End
ENSE00002172250	7281045	7281153
ENSE00002188856	7281818	7282780
ENSE00003570105	7280387	7280586
ENSE00003641139	7279770	7279892

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 57.96.

Top tissues by expression

89 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	57.96	silver quality
right uterine tube	UBERON:0001302	48.27	gold quality
cortical plate	UBERON:0005343	43.12	gold quality
ganglionic eminence	UBERON:0004023	42.01	gold quality
lower esophagus mucosa	UBERON:0035834	40.82	silver quality
bone marrow cell	CL:0002092	38.05	gold quality
granulocyte	CL:0000094	37.73	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.37	gold quality
apex of heart	UBERON:0002098	36.06	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.33	gold quality
calcaneal tendon	UBERON:0003701	35.03	gold quality
muscle tissue	UBERON:0002385	34.34	gold quality
bone marrow	UBERON:0002371	33.75	gold quality
mucosa of transverse colon	UBERON:0004991	33.64	gold quality
tonsil	UBERON:0002372	33.58	gold quality
urinary bladder	UBERON:0001255	32.98	gold quality
leukocyte	CL:0000738	32.03	gold quality
monocyte	CL:0000576	31.82	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
islet of Langerhans	UBERON:0000006	30.84	gold quality
liver	UBERON:0002107	30.82	gold quality
left adrenal gland cortex	UBERON:0035825	30.73	silver quality
right coronary artery	UBERON:0001625	30.47	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
lymph node	UBERON:0000029	28.68	gold quality
muscle of leg	UBERON:0001383	28.65	gold quality
duodenum	UBERON:0002114	28.14	gold quality
frontal cortex	UBERON:0001870	28.05	silver quality
heart	UBERON:0000948	27.97	silver quality

Single-cell (SCXA)

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

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

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), 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 FAM90A13 — P0C7W8 (reviewed: P0C7W8)

All UniProt accessions (1): P0C7W8

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_001410455* (*=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-P0C7W8-F1	50.57	0.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 11 (showing top): GSE14308_TH1_VS_NATURAL_TREG_UP, GSE19825_NAIVE_VS_DAY3_EFF_CD8_TCELL_UP, GSE39820_TGFBETA3_IL6_VS_TGFBETA3_IL6_IL23A_TREATED_CD4_TCELL_UP, chr8p23, GSE7831_1H_VS_4H_CPG_STIM_PDC_DN, GSE21380_NON_TFH_VS_GERMINAL_CENTER_TFH_CD4_TCELL_UP, GSE21379_TFH_VS_NON_TFH_CD4_TCELL_DN, GSE21546_WT_VS_SAP1A_KO_ANTI_CD3_STIM_DP_THYMOCYTES_UP, GSE35543_IN_VIVO_NTREG_VS_IN_VITRO_ITREG_UP, GSE46606_UNSTIM_VS_CD40L_IL2_IL5_3DAY_STIMULATED_IRF4HIGH_SORTED_BCELL_DN, GSE46606_UNSTIM_VS_CD40L_IL2_IL5_1DAY_STIMULATED_IRF4MID_SORTED_BCELL_DN

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

2 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	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:613049 | 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)

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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