FAM90A26

Summary

FAM90A26 (family with sequence similarity 90 member A26, HGNC:43746) is a protein-coding gene on chromosome 4p16.1, encoding Protein FAM90A26 (D6RGX4).

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001358418

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:43746
Approved symbol	FAM90A26
Name	family with sequence similarity 90 member A26
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000229924
Ensembl biotype	protein_coding
Entrez	100287045

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000512047

RefSeq mRNA: 1 — MANE Select: NM_001358418 NM_001358418

CCDS: CCDS87208

Canonical transcript exons

ENST00000512047 — 7 exons

Exon	Start	End
ENSE00001601922	9173790	9173989
ENSE00001687588	9174448	9174556
ENSE00002035380	9171532	9171738
ENSE00002041592	9170409	9170522
ENSE00002071003	9173117	9173295
ENSE00002072640	9172013	9172169
ENSE00002079545	9175205	9176730

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 85.01.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.01	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.11	gold quality
stromal cell of endometrium	CL:0002255	48.04	gold quality
colonic epithelium	UBERON:0000397	41.22	gold quality
superior frontal gyrus	UBERON:0002661	40.81	gold quality
ventricular zone	UBERON:0003053	40.06	gold quality
bone marrow cell	CL:0002092	39.94	gold quality
primary visual cortex	UBERON:0002436	39.59	gold quality
skeletal muscle tissue	UBERON:0001134	38.97	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	35.17	gold quality
tonsil	UBERON:0002372	34.63	gold quality
right coronary artery	UBERON:0001625	33.75	gold quality
bone marrow	UBERON:0002371	33.68	gold quality
urinary bladder	UBERON:0001255	32.61	gold quality
descending thoracic aorta	UBERON:0002345	32.28	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
cerebellum	UBERON:0002037	31.73	gold quality
cerebellar cortex	UBERON:0002129	31.63	gold quality
cerebellar hemisphere	UBERON:0002245	31.34	gold quality
right lung	UBERON:0002167	31.14	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
right uterine tube	UBERON:0001302	30.52	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	30.21	gold quality
ovary	UBERON:0000992	30.04	gold quality
left ovary	UBERON:0002119	29.85	gold quality
right hemisphere of cerebellum	UBERON:0014890	29.75	gold quality
left adrenal gland cortex	UBERON:0035825	29.24	gold quality
liver	UBERON:0002107	29.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

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), 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 FAM90A26 — D6RGX4 (reviewed: D6RGX4)

All UniProt accessions (1): D6RGX4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM90 family.

RefSeq proteins (1): NP_001345347* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039213	FAM90	Family
IPR041670	Znf-CCHC_6	Domain

Pfam: PF15288

UniProt features (8 total): region of interest 4, compositionally biased region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-D6RGX4-F1	49.17	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr4p16

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

2 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM90A26	FAM90A1	Q86YD7	0

IntAct

3 interactions, top by confidence:

A	B	Type	Score
FAM90A1	RFPL4A	psi-mi:“MI:0914”(association)	0.530

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	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

830 predictions. Top by Δscore:

Variant	Effect	Δscore
4:9173105:T:TA	acceptor_gain	1.0000
4:9173109:T:TA	acceptor_gain	1.0000
4:9173112:TTCAG:T	acceptor_loss	1.0000
4:9173114:CAG:C	acceptor_loss	1.0000
4:9173115:A:AG	acceptor_gain	1.0000
4:9173115:AG:A	acceptor_gain	1.0000
4:9173115:AGGT:A	acceptor_gain	1.0000
4:9173116:G:GG	acceptor_gain	1.0000
4:9173116:GG:G	acceptor_gain	1.0000
4:9173116:GGT:G	acceptor_gain	1.0000
4:9173116:GGTG:G	acceptor_gain	1.0000
4:9173116:GGTGA:G	acceptor_gain	1.0000
4:9173291:CCAGG:C	donor_gain	1.0000
4:9173292:CAGG:C	donor_gain	1.0000
4:9173292:CAGGG:C	donor_loss	1.0000
4:9173293:AGG:A	donor_gain	1.0000
4:9173293:AGGG:A	donor_loss	1.0000
4:9173294:GG:G	donor_gain	1.0000
4:9173294:GGG:G	donor_gain	1.0000
4:9173294:GGGTA:G	donor_loss	1.0000
4:9173295:GG:G	donor_gain	1.0000
4:9173296:G:GG	donor_gain	1.0000
4:9173296:GT:G	donor_loss	1.0000
4:9173961:GA:G	donor_gain	1.0000
4:9174446:A:AG	acceptor_gain	1.0000
4:9174446:AG:A	acceptor_gain	1.0000
4:9174447:G:A	acceptor_loss	1.0000
4:9174447:G:GA	acceptor_gain	1.0000
4:9174447:GG:G	acceptor_gain	1.0000
4:9174447:GGC:G	acceptor_gain	1.0000

AlphaMissense

2998 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:9173814:T:C	F50L	0.945
4:9173816:T:A	F50L	0.945
4:9173816:T:G	F50L	0.945
4:9173841:T:C	C59R	0.943
4:9173796:T:A	C44S	0.942
4:9173797:G:C	C44S	0.942
4:9175958:T:C	F396L	0.931
4:9175960:C:A	F396L	0.931
4:9175960:C:G	F396L	0.931
4:9173822:C:A	H52Q	0.929
4:9173822:C:G	H52Q	0.929
4:9173841:T:A	C59S	0.925
4:9173842:G:C	C59S	0.925
4:9175982:T:A	W404R	0.921
4:9175982:T:C	W404R	0.921
4:9173805:T:A	C47S	0.916
4:9173806:G:C	C47S	0.916
4:9173795:G:C	K43N	0.909
4:9173795:G:T	K43N	0.909
4:9173796:T:C	C44R	0.902
4:9173832:A:C	S56R	0.900
4:9173834:T:A	S56R	0.900
4:9173834:T:G	S56R	0.900
4:9173806:G:A	C47Y	0.882
4:9173818:G:A	G51D	0.876
4:9175984:G:C	W404C	0.874
4:9175984:G:T	W404C	0.874
4:9173805:T:C	C47R	0.873
4:9173798:C:G	C44W	0.872
4:9175959:T:C	F396S	0.864

dbSNP variants (sampled 300 via entrez): RS1028056782 (4:9174190 G>A), RS1048774421 (4:9169128 T>A), RS1052628224 (4:9168418 C>A), RS1156836128 (4:9175976 G>A,C), RS1157259842 (4:9172489 C>T), RS1158000786 (4:9171938 G>A,C,T), RS1158088670 (4:9173238 G>T), RS1159756741 (4:9171741 G>A), RS1160407372 (4:9176360 T>C), RS1160891175 (4:9168423 G>A), RS1161032244 (4:9174735 C>T), RS1161253741 (4:9175879 C>A), RS1161288552 (4:9168562 G>A), RS1161656707 (4:9170693 G>A,T), RS1161717539 (4:9172602 G>A)

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.