GOLGA6L6

Summary

GOLGA6L6 (golgin A6 family like 6 (gene/pseudogene), HGNC:37225) is a protein-coding gene on chromosome 15q11.2, encoding Golgin subfamily A member 6-like protein 6 (A8MZA4).

At a glance

• Clinical variants (ClinVar): 156 total
• MANE Select transcript: NM_001145004

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37225
Approved symbol	GOLGA6L6
Name	golgin A6 family like 6 (gene/pseudogene)
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36131
Ensembl gene	ENSG00000277322
Ensembl biotype	protein_coding
Entrez	727832

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000619213

RefSeq mRNA: 1 — MANE Select: NM_001145004 NM_001145004

CCDS: CCDS45184

Canonical transcript exons

ENST00000619213 — 9 exons

Exon	Start	End
ENSE00003713988	20538636	20538686
ENSE00003726781	20531856	20533602
ENSE00003733413	20538252	20538358
ENSE00003734625	20541548	20541800
ENSE00003738024	20536814	20536872
ENSE00003741243	20539773	20539901
ENSE00003743192	20538454	20538547
ENSE00003744609	20536342	20536483
ENSE00003747452	20534259	20535689

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 64.34.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	64.34	gold quality
testis	UBERON:0000473	63.48	gold quality
right testis	UBERON:0004534	62.54	gold quality
sural nerve	UBERON:0015488	48.57	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
bone marrow cell	CL:0002092	36.16	gold quality
apex of heart	UBERON:0002098	36.10	gold quality
primary visual cortex	UBERON:0002436	35.84	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
superior frontal gyrus	UBERON:0002661	35.46	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
prefrontal cortex	UBERON:0000451	31.70	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.24	gold quality
frontal cortex	UBERON:0001870	28.96	gold quality
lymph node	UBERON:0000029	28.73	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.85	gold quality
leukocyte	CL:0000738	27.83	gold quality
urinary bladder	UBERON:0001255	27.75	gold quality
tonsil	UBERON:0002372	27.05	gold quality
blood	UBERON:0000178	26.94	silver quality
islet of Langerhans	UBERON:0000006	26.88	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
pancreas	UBERON:0001264	26.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting GOLGA6L6, 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-3064-3P	100.00	70.09	1254
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1827	99.63	68.57	3265

Cross-species orthologs

0 orthologs

Paralogs (10): GOLGA6L2 (ENSG00000174450), GOLGA6L4 (ENSG00000184206), GOLGA6L9 (ENSG00000197978), GOLGA6L25 (ENSG00000227717), GOLGA6L24 (ENSG00000237850), GOLGA6L7 (ENSG00000261649), GOLGA6L26 (ENSG00000273756), GOLGA6L1 (ENSG00000273976), GOLGA6L22 (ENSG00000277865), GOLGA6L10 (ENSG00000278662)

Protein

Protein identifiers

Golgin subfamily A member 6-like protein 6 — A8MZA4 (reviewed: A8MZA4)

All UniProt accessions (1): A8MZA4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA6 family.

RefSeq proteins (1): NP_001138476* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026737	GOLGA6L	Family

UniProt features (12 total): region of interest 5, compositionally biased region 5, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MZA4-F1	72.76	0.17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): chr15q11, MIR196A_1_3P, MIR1827, MIR1252_3P, MIR4666A_5P, MIR3064_3P, MIR4426, MIR4640_5P, MIR6747_3P, MIR4726_5P, MIR1243, MIR23B_5P, MIR23A_5P, ZSCAN4_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

603 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA6L6	TEX55	Q96M34	602
GOLGA6L6	OR2T33	Q8NG76	474
GOLGA6L6	OR4M2	Q8NGB6	447
GOLGA6L6	OR4N4	Q8N0Y3	445
GOLGA6L6	ZNF541	Q9H0D2	418
GOLGA6L6	ODF4	Q2M2E3	396
GOLGA6L6	ADGRD2	Q7Z7M1	394
GOLGA6L6	CHLSN	Q9BRJ6	368
GOLGA6L6	ADPRHL1	Q8NDY3	359
GOLGA6L6	DTHD1	Q6ZMT9	357
GOLGA6L6	IGSF9	Q9P2J2	323
GOLGA6L6	GOLGA8CP	A6NN73	314
GOLGA6L6	C8orf82	Q6P1X6	304
GOLGA6L6	TRIM49C	P0CI26	301
GOLGA6L6	NOSTRIN	Q8IVI9	292

IntAct

2 interactions, top by confidence:

A	B	Type	Score
GOLGA6L2	GOLGA6L6	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A0A1B0GV03, A6NEF3, A6NEM1, A6NI86, A8MZA4, B4DH59, D3YVF0, F6QRE9, H0YKK7, H0YM25, P0C6Y7, P0C7A2, P0DX00, P0DX01, P0DX02, P14590, P21263, P22793, P24587, P24710, P48997, P48998, Q07283, Q0II65, Q0P6D6, Q13342, Q3BBV2, Q4R9C9, Q5W0A0, Q6AXX0, Q6NSX1, Q6P5H2, Q6P902, Q86T75, Q8CHD8, Q8N2N9, Q8N660, Q8N7Z2

Diamond homologs: A0A1B0GV03, A1IH00, A6NC78, A6NCC3, A6NDK9, A6NDN3, A6NEF3, A6NEM1, A6NI86, A6NN73, A7E2F4, A8MQT2, A8MZA4, F8WBI6, H0YKK7, H0YM25, H3BPF8, H3BSY2, H3BV12, I6L899, P0CG33, P0CJ92, P0DX00, P0DX01, P0DX02, P0DX52, P0DX53, Q08379, Q62839, Q8N7Z2, Q8N9W4, Q921M4, Q9NYA3, A6NMD2, D6RF30, H3BQL2, Q0D2H9, Q9HBQ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	138
Likely benign	10
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1048 predictions. Top by Δscore:

Variant	Effect	Δscore
15:20533742:T:TA	donor_gain	1.0000
15:20536337:CTCA:C	donor_loss	1.0000
15:20536338:TCAC:T	donor_loss	1.0000
15:20536339:CA:C	donor_loss	1.0000
15:20536340:A:AC	donor_gain	1.0000
15:20536340:ACCT:A	donor_loss	1.0000
15:20536341:C:CC	donor_gain	1.0000
15:20536479:TTATG:T	acceptor_gain	1.0000
15:20536480:TATG:T	acceptor_gain	1.0000
15:20536481:ATG:A	acceptor_gain	1.0000
15:20536483:GC:G	acceptor_loss	1.0000
15:20536484:C:CC	acceptor_gain	1.0000
15:20536484:CTAT:C	acceptor_loss	1.0000
15:20536486:A:C	acceptor_gain	1.0000
15:20536491:C:CT	acceptor_gain	1.0000
15:20536491:C:T	acceptor_gain	1.0000
15:20536492:A:T	acceptor_gain	1.0000
15:20536497:C:CT	acceptor_gain	1.0000
15:20536498:A:T	acceptor_gain	1.0000
15:20536499:G:C	acceptor_gain	1.0000
15:20536499:G:GC	acceptor_gain	1.0000
15:20536812:A:AC	donor_gain	1.0000
15:20536813:C:CC	donor_gain	1.0000
15:20536818:T:A	donor_gain	1.0000
15:20538250:AC:A	donor_gain	1.0000
15:20538251:CC:C	donor_gain	1.0000
15:20538631:CTCA:C	donor_loss	1.0000
15:20538632:TCA:T	donor_loss	1.0000
15:20538633:CA:C	donor_loss	1.0000
15:20538635:C:CT	donor_loss	1.0000

AlphaMissense

4970 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:20536382:A:G	L235P	0.938
15:20538501:A:G	L130P	0.925
15:20538522:A:G	L123P	0.922
15:20538331:A:G	L155P	0.919
15:20536445:A:G	L214P	0.918
15:20536466:A:G	L207P	0.904
15:20538343:A:G	L151P	0.902
15:20536433:A:G	L218P	0.898
15:20535649:A:G	L262P	0.887
15:20536826:A:G	L197P	0.887
15:20536362:C:G	A242P	0.886
15:20538312:A:C	F161L	0.886
15:20538312:A:T	F161L	0.886
15:20538314:A:G	F161L	0.886
15:20535628:A:G	L269P	0.878
15:20538479:G:C	S137R	0.872
15:20538479:G:T	S137R	0.872
15:20538481:T:G	S137R	0.872
15:20536370:A:G	L239P	0.865
15:20538323:A:G	S158P	0.860
15:20538525:A:G	I122T	0.860
15:20538640:A:G	L113P	0.838
15:20538489:A:G	L134P	0.828
15:20538260:C:G	A179P	0.826
15:20538289:A:G	L169P	0.821
15:20538493:C:G	A133P	0.821
15:20538547:C:G	A115P	0.821
15:20538472:C:G	A140P	0.816
15:20538513:T:G	Q126P	0.814
15:20536838:A:G	L193P	0.804

dbSNP variants (sampled 300 via entrez): RS1001155933 (15:20534560 TCCC>T,TCC), RS1001461630 (15:20537792 A>C,G), RS1004007329 (15:20543440 A>G,T), RS1007184696 (15:20532340 A>G), RS1007775748 (15:20542009 T>C), RS1008007579 (15:20538236 C>A,T), RS1008327233 (15:20539753 C>T), RS1009812888 (15:20538009 G>A,C,T), RS1009844672 (15:20539518 A>T), RS1013617079 (15:20534424 C>G), RS1013724870 (15:20532615 A>C), RS1017509048 (15:20542559 A>G), RS1017898869 (15:20540071 GA>G,GAA), RS1018453484 (15:20538250 A>G), RS1019925927 (15:20535767 G>C)

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
sodium arsenite	decreases expression	1
chloropicrin	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Asbestos, Crocidolite	decreases expression	1

Clinical trials (associated diseases)

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