GSG1L2

Summary

GSG1L2 (GSG1 like 2, HGNC:51826) is a protein-coding gene on chromosome 17p13.1, encoding Germ cell-specific gene 1-like protein 2 (A8MUP6).

Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 644070 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001310219

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51826
Approved symbol	GSG1L2
Name	GSG1 like 2
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214978
Ensembl biotype	protein_coding
Entrez	644070

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000399363

RefSeq mRNA: 1 — MANE Select: NM_001310219 NM_001310219

CCDS: CCDS82072

Canonical transcript exons

ENST00000399363 — 5 exons

Exon	Start	End
ENSE00001537741	9800608	9802644
ENSE00001537747	9810571	9810618
ENSE00001537748	9821762	9822079
ENSE00002737582	9807490	9807601
ENSE00002908227	9808830	9808982

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 85.37.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0131 / max 7.7208, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164501	0.0131	3

Top tissues by expression

131 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	85.37	gold quality
anterior cingulate cortex	UBERON:0009835	40.07	gold quality
bone marrow cell	CL:0002092	38.27	gold quality
sural nerve	UBERON:0015488	37.91	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
prefrontal cortex	UBERON:0000451	36.26	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
right testis	UBERON:0004534	30.62	silver quality
testis	UBERON:0000473	30.57	gold quality
frontal cortex	UBERON:0001870	30.11	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
left testis	UBERON:0004533	29.35	gold quality
cerebral cortex	UBERON:0000956	29.10	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
placenta	UBERON:0001987	27.93	silver quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
leukocyte	CL:0000738	27.03	gold quality
monocyte	CL:0000576	26.97	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.11	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.00

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gsg1l2b	ENSDARG00000045265
danio_rerio	gsg1l2a	ENSDARG00000086204
mus_musculus	Gsg1l2	ENSMUSG00000097886
rattus_norvegicus	Gsg1l2	ENSRNOG00000062399

Paralogs (10): LIM2 (ENSG00000105370), NKG7 (ENSG00000105374), PMP22 (ENSG00000109099), GSG1 (ENSG00000111305), EMP1 (ENSG00000134531), EMP3 (ENSG00000142227), CLDND2 (ENSG00000160318), GSG1L (ENSG00000169181), TMEM202 (ENSG00000187806), EMP2 (ENSG00000213853)

Protein

Protein identifiers

Germ cell-specific gene 1-like protein 2 — A8MUP6 (reviewed: A8MUP6)

All UniProt accessions (1): A8MUP6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the GSG1 family.

RefSeq proteins (1): NP_001297148* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012478	GSG-1	Family
IPR050579	PMP-22/EMP/MP20-like	Family

Pfam: PF07803

UniProt features (12 total): topological domain 5, transmembrane region 4, glycosylation site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MUP6-F1	75.68	0.36

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 59, 67

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): GLI1_TARGET_GENES, NFKBIA_TARGET_GENES, chr17p13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

74 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GSG1L2	SYNDIG1L	A6NDD5	643
GSG1L2	CNIH1	O95406	624
GSG1L2	TMEM91	Q6ZNR0	617
GSG1L2	SHISA3	A0PJX4	611
GSG1L2	SYNDIG1	Q9H7V2	611
GSG1L2	SHISA6	Q6ZSJ9	569
GSG1L2	CNIH3	Q8TBE1	564
GSG1L2	CNIH2	Q6PI25	536
GSG1L2	CNIH4	Q9P003	499
GSG1L2	CACNG1	Q06432	490
GSG1L2	SSR2	P43308	489
GSG1L2	CACNG3	O60359	481
GSG1L2	SHISA9	B4DS77	474
GSG1L2	CACNG8	Q8WXS5	420
GSG1L2	SHISA5	Q8N114	418

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JPH4, A4IIV4, A6NGA9, A8MUP6, D3Z7H4, D3ZK93, O42282, O60478, O75204, O95859, P0DP42, P38551, P58418, Q08CE6, Q0II41, Q11085, Q29RH7, Q2KHT4, Q2M2E3, Q32KQ5, Q32LT7, Q3SZT1, Q4V922, Q504G0, Q569A2, Q5CZV0, Q5FWC3, Q5M962, Q5R8B5, Q5RCD5, Q5VW38, Q5XGU1, Q5ZIF5, Q6AXT9, Q6AYL2, Q6GV27, Q6GV28, Q6UXU4, Q7TQI0, Q8BGP5

Diamond homologs: A4IIV4, A8MUP6, D3Z7H4, D3ZK93, Q2KHT4, Q3SZT1, Q4V922, Q6AYL2, Q6UXU4, Q8R1W2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 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	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

685 predictions. Top by Δscore:

Variant	Effect	Δscore
17:9808902:CT:C	donor_gain	1.0000
17:9821757:CTCA:C	donor_loss	1.0000
17:9821758:TCACC:T	donor_loss	1.0000
17:9821759:CA:C	donor_loss	1.0000
17:9821760:ACCTT:A	donor_loss	1.0000
17:9821761:C:G	donor_loss	1.0000
17:9808901:A:AC	donor_gain	0.9900
17:9808902:C:CC	donor_gain	0.9900
17:9821760:A:AC	donor_gain	0.9900
17:9821761:C:CC	donor_gain	0.9900
17:9807700:AAAGT:A	donor_gain	0.9800
17:9807704:T:TA	donor_gain	0.9800
17:9821759:CACCT:C	donor_gain	0.9800
17:9821761:CCT:C	donor_gain	0.9800
17:9821761:CCTT:C	donor_gain	0.9800
17:9821763:TTC:T	donor_gain	0.9800
17:9802640:CAAGG:C	acceptor_gain	0.9700
17:9802645:C:CC	acceptor_gain	0.9700
17:9807731:T:TA	donor_gain	0.9700
17:9810566:TTTA:T	donor_loss	0.9700
17:9810567:TTA:T	donor_loss	0.9700
17:9810568:TA:T	donor_loss	0.9700
17:9810565:ATTT:A	donor_loss	0.9600
17:9821879:T:TA	donor_gain	0.9600
17:9810615:TCATC:T	acceptor_loss	0.9500
17:9810617:ATCTG:A	donor_loss	0.9500
17:9810618:TCTG:T	acceptor_loss	0.9500
17:9810619:C:CA	donor_loss	0.9500
17:9810619:C:CC	acceptor_gain	0.9500
17:9810620:T:C	acceptor_loss	0.9500

AlphaMissense

1933 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:9807558:A:C	F185L	0.959
17:9807558:A:T	F185L	0.959
17:9807560:A:G	F185L	0.959
17:9807525:C:A	W196C	0.957
17:9807525:C:G	W196C	0.957
17:9821988:G:C	S28R	0.957
17:9821988:G:T	S28R	0.957
17:9821990:T:G	S28R	0.957
17:9802626:G:C	F214L	0.953
17:9802626:G:T	F214L	0.953
17:9802628:A:G	F214L	0.953
17:9821808:G:C	F88L	0.951
17:9821808:G:T	F88L	0.951
17:9821810:A:G	F88L	0.951
17:9807510:C:A	W201C	0.947
17:9807510:C:G	W201C	0.947
17:9821952:C:A	K40N	0.946
17:9821952:C:G	K40N	0.946
17:9821823:G:C	F83L	0.939
17:9821823:G:T	F83L	0.939
17:9821825:A:G	F83L	0.939
17:9807559:A:G	F185S	0.938
17:9810599:G:C	F110L	0.934
17:9810599:G:T	F110L	0.934
17:9810600:A:C	F110C	0.934
17:9810601:A:G	F110L	0.934
17:9808924:G:C	S139R	0.932
17:9808924:G:T	S139R	0.932
17:9808926:T:G	S139R	0.932
17:9821972:C:A	G34W	0.926

dbSNP variants (sampled 300 via entrez): RS1000152975 (17:9815009 G>A), RS1000221625 (17:9805035 G>T), RS1000223126 (17:9809984 G>A), RS1000276927 (17:9810261 C>T), RS1000380694 (17:9823693 T>A,C), RS1000482761 (17:9814798 G>A), RS1000603134 (17:9819665 T>A,C), RS1000882357 (17:9819499 G>A), RS1000886773 (17:9805322 G>A,T), RS1000929429 (17:9809462 A>G,T), RS1000960635 (17:9809572 T>C), RS1000978522 (17:9819114 A>G), RS1001024018 (17:9814141 G>T), RS1001031874 (17:9814511 G>A,T), RS1001088714 (17:9813768 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)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Endosulfan	decreases expression	1

Clinical trials (associated diseases)

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