SRRM5

Summary

SRRM5 (serine/arginine repetitive matrix 5, HGNC:37248) is a protein-coding gene on chromosome 19q13.31, encoding Serine/arginine repetitive matrix protein 5 (B3KS81).

At a glance

• Clinical variants (ClinVar): 124 total
• MANE Select transcript: NM_001145641

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37248
Approved symbol	SRRM5
Name	serine/arginine repetitive matrix 5
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000226763
Ensembl biotype	protein_coding
Entrez	100170229

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000417606, ENST00000607544

RefSeq mRNA: 1 — MANE Select: NM_001145641 NM_001145641

CCDS: CCDS46095

Canonical transcript exons

ENST00000417606 — 1 exons

Exon	Start	End
ENSE00001795929	43612088	43614498

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 90.81.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0830 / max 87.0594, expressed in 5 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176203	8.8225	1772
176205	0.0549	3
176204	0.0182	3
176206	0.0100	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	90.81	gold quality
right testis	UBERON:0004534	90.51	gold quality
testis	UBERON:0000473	87.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.43	gold quality
sperm	CL:0000019	74.69	gold quality
cerebellar hemisphere	UBERON:0002245	66.26	gold quality
cerebellar cortex	UBERON:0002129	66.19	gold quality
right hemisphere of cerebellum	UBERON:0014890	65.98	gold quality
cerebellum	UBERON:0002037	64.85	gold quality
sural nerve	UBERON:0015488	64.15	gold quality
stromal cell of endometrium	CL:0002255	62.49	gold quality
apex of heart	UBERON:0002098	62.09	gold quality
epithelium of nasopharynx	UBERON:0001951	62.07	gold quality
right lobe of liver	UBERON:0001114	62.00	gold quality
mucosa of transverse colon	UBERON:0004991	61.83	gold quality
lower esophagus mucosa	UBERON:0035834	61.63	gold quality
lateral nuclear group of thalamus	UBERON:0002736	61.42	gold quality
superficial temporal artery	UBERON:0001614	60.99	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	60.81	gold quality
heart right ventricle	UBERON:0002080	60.67	gold quality
granulocyte	CL:0000094	60.61	gold quality
substantia nigra pars reticulata	UBERON:0001966	60.55	gold quality
lateral globus pallidus	UBERON:0002476	60.43	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	60.42	gold quality
adenohypophysis	UBERON:0002196	60.15	gold quality
substantia nigra pars compacta	UBERON:0001965	59.88	gold quality
caudate nucleus	UBERON:0001873	59.84	gold quality
putamen	UBERON:0001874	59.76	gold quality
left adrenal gland cortex	UBERON:0035825	59.72	gold quality
bone marrow cell	CL:0002092	59.71	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	9.31
E-MTAB-9543	yes	6.68
E-MTAB-6058	no	153.36
E-ANND-3	no	0.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting SRRM5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-3925-5P	99.21	67.90	1466
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-6741-5P	93.86	63.06	437
HSA-MIR-6840-5P	88.69	60.91	68
HSA-MIR-4743-5P	88.08	64.31	91

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm50092	ENSMUSG00000117477
rattus_norvegicus	AABR07002689.1	ENSRNOG00000050032

Protein

Protein identifiers

Serine/arginine repetitive matrix protein 5 — B3KS81 (reviewed: B3KS81)

All UniProt accessions (1): B3KS81

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001139113* (*=MANE)

Domains & families (InterPro)

UniProt features (25 total): compositionally biased region 18, sequence conflict 5, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B3KS81-F1	41.71	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, COBLL1_TARGET_GENES, CREB3L4_TARGET_GENES, DACH1_TARGET_GENES, DIDO1_TARGET_GENES, E2F2_TARGET_GENES, ELF2_TARGET_GENES, FEV_TARGET_GENES, H1_6_TARGET_GENES, HOXB6_TARGET_GENES, IRF5_TARGET_GENES, LMTK3_TARGET_GENES, MEF2D_TARGET_GENES, NCOA2_TARGET_GENES, NPAT_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRRM5	KRTAP13-2	Q52LG2	667
SRRM5	OR1B1	Q8NGR6	620
SRRM5	XKR5	Q6UX68	599
SRRM5	PRSS45P	Q7RTY3	581
SRRM5	OR2A12	Q8NGT7	505
SRRM5	CPNE7	Q9UBL6	453
SRRM5	KRTAP1-1	Q07627	435
SRRM5	CPNE6	O95741	426
SRRM5	CPNE3	O75131	385
SRRM5	CPNE1	Q99829	379
SRRM5	CCDC88C	Q9P219	365
SRRM5	KLHL26	Q53HC5	326
SRRM5	CPNE9	Q8IYJ1	318
SRRM5	CPNE2	Q96FN4	296
SRRM5	DIS3	Q9Y2L1	277

IntAct

3 interactions, top by confidence:

A	B	Type	Score
SRRM5	LRRC59	psi-mi:“MI:0915”(physical association)	0.400
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): LRRC59 (Proximity Label-MS), SRRM5 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUY1, A6NJ88, A6QL64, B3KS81, E9Q6E9, O43493, O48582, O77733, P04279, P0C7A4, P0C7A5, P0CV57, P0DKJ7, P10322, P16225, P48997, P48998, Q02383, Q06990, Q08AG5, Q0ZNK1, Q5JPF3, Q5JRC9, Q5SRN2, Q5U7M7, Q5U7M8, Q5U7M9, Q5U7N0, Q5U7N1, Q5U7N3, Q5U7N4, Q5XHX6, Q659K0, Q6AYN3, Q6JHY2, Q6P902, Q6SJ82, Q6X2M3, Q6XPR3, Q80Y39

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	101
Likely benign	21
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1441 predictions. Top by Δscore:

Variant	Effect	Δscore
19:43597182:G:GT	donor_gain	1.0000
19:43597189:CATCT:C	donor_gain	1.0000
19:43597190:ATCT:A	donor_gain	1.0000
19:43597191:TCT:T	donor_gain	1.0000
19:43597192:CT:C	donor_gain	1.0000
19:43597193:TGTG:T	donor_loss	1.0000
19:43597194:G:GA	donor_loss	1.0000
19:43597194:G:GG	donor_gain	1.0000
19:43597195:TGAG:T	donor_loss	1.0000
19:43597198:G:GG	donor_gain	1.0000
19:43599208:G:GT	donor_gain	1.0000
19:43608103:GGGGC:G	acceptor_gain	1.0000
19:43608105:GGC:G	acceptor_gain	1.0000
19:43608106:GC:G	acceptor_gain	1.0000
19:43608107:CC:C	acceptor_gain	1.0000
19:43608108:C:CA	acceptor_loss	1.0000
19:43608108:C:CC	acceptor_gain	1.0000
19:43608109:T:A	acceptor_loss	1.0000
19:43614223:CCTTA:C	donor_loss	1.0000
19:43614224:CTTAC:C	donor_loss	1.0000
19:43614225:TTA:T	donor_loss	1.0000
19:43614227:ACCT:A	donor_loss	1.0000
19:43614228:C:G	donor_loss	1.0000
19:43596742:GG:G	donor_gain	0.9900
19:43596743:GG:G	donor_gain	0.9900
19:43597093:GAA:G	acceptor_gain	0.9900
19:43597196:GAGTA:G	donor_loss	0.9900
19:43597197:A:AG	donor_gain	0.9900
19:43597197:AGTA:A	donor_loss	0.9900
19:43598829:A:AG	acceptor_gain	0.9900

AlphaMissense

4747 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:43613445:A:C	S442R	0.838
19:43613447:T:A	S442R	0.838
19:43613447:T:G	S442R	0.838
19:43613067:A:C	S316R	0.802
19:43613069:T:A	S316R	0.802
19:43613069:T:G	S316R	0.802
19:43613517:A:C	S466R	0.794
19:43613519:T:A	S466R	0.794
19:43613519:T:G	S466R	0.794
19:43613409:A:C	S430R	0.790
19:43613411:T:A	S430R	0.790
19:43613411:T:G	S430R	0.790
19:43612293:A:C	S58R	0.789
19:43612295:C:A	S58R	0.789
19:43612295:C:G	S58R	0.789
19:43612302:A:C	S61R	0.741
19:43612304:T:A	S61R	0.741
19:43612304:T:G	S61R	0.741
19:43613456:G:C	K445N	0.738
19:43613456:G:T	K445N	0.738
19:43613481:A:C	S454R	0.711
19:43613483:T:A	S454R	0.711
19:43613483:T:G	S454R	0.711
19:43613060:G:C	R313S	0.710
19:43613060:G:T	R313S	0.710
19:43612404:A:C	S95R	0.692
19:43612406:C:A	S95R	0.692
19:43612406:C:G	S95R	0.692
19:43613373:A:C	S418R	0.678
19:43613375:T:A	S418R	0.678

dbSNP variants (sampled 300 via entrez): RS1000401373 (19:43613417 C>A,T), RS1001004165 (19:43612530 A>C,G), RS1001050277 (19:43612736 G>A,T), RS1001206258 (19:43610254 C>T), RS1001843306 (19:43612821 C>T), RS1002861888 (19:43611654 T>C), RS1002933780 (19:43611476 C>T), RS1003050790 (19:43610256 G>A,C), RS1005254175 (19:43612368 C>A,T), RS1005563926 (19:43611789 GC>G,GCC), RS1005616382 (19:43612554 A>G,T), RS1006203608 (19:43611448 T>C), RS1006669173 (19:43611160 C>T), RS1007076052 (19:43612173 G>T), RS1007341510 (19:43613680 A>C,G)

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)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression	1
Sunitinib	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	increases expression	1
Magnetite Nanoparticles	increases expression	1

Clinical trials (associated diseases)

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