GOLGA6L22

Summary

GOLGA6L22 (golgin A6 family like 22, HGNC:50289) is a protein-coding gene on chromosome 15q11.2, encoding Golgin subfamily A member 6-like protein 22 (H0YM25).

At a glance

• Clinical variants (ClinVar): 11 total — 1 pathogenic
• MANE Select transcript: NM_001396956

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:50289
Approved symbol	GOLGA6L22
Name	golgin A6 family like 22
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000277865
Ensembl biotype	protein_coding
Entrez	440243

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000622895

RefSeq mRNA: 2 — MANE Select: NM_001396956 NM_001396956, NM_001396957

CCDS: CCDS91962

Canonical transcript exons

ENST00000622895 — 9 exons

Exon	Start	End
ENSE00003717013	22464230	22464371
ENSE00003719528	22467482	22469226
ENSE00003723873	22460820	22460948
ENSE00003726547	22463841	22463899
ENSE00003727240	22465023	22466825
ENSE00003732520	22458903	22459173
ENSE00003737665	22462362	22462468
ENSE00003748831	22462173	22462266
ENSE00003753235	22462034	22462084

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 75.23.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	75.23	gold quality
left testis	UBERON:0004533	75.04	gold quality
testis	UBERON:0000473	73.93	gold quality
superior frontal gyrus	UBERON:0002661	42.66	gold quality
sural nerve	UBERON:0015488	40.49	gold quality
primary visual cortex	UBERON:0002436	40.18	silver 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
anterior cingulate cortex	UBERON:0009835	35.70	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.29	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	34.82	silver quality
monocyte	CL:0000576	32.83	gold quality
muscle tissue	UBERON:0002385	32.46	gold quality
leukocyte	CL:0000738	32.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
Brodmann (1909) area 9	UBERON:0013540	31.80	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
liver	UBERON:0002107	29.90	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.66	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
right lobe of liver	UBERON:0001114	26.52	gold quality
temporal lobe	UBERON:0001871	26.47	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.14

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (10): GOLGA6L2 (ENSG00000174450), GOLGA6L4 (ENSG00000184206), GOLGA6L9 (ENSG00000197978), GOLGA6L25 (ENSG00000227717), GOLGA6L24 (ENSG00000237850), GOLGA6L7 (ENSG00000261649), GOLGA6L26 (ENSG00000273756), GOLGA6L1 (ENSG00000273976), GOLGA6L6 (ENSG00000277322), GOLGA6L10 (ENSG00000278662)

Protein

Protein identifiers

Golgin subfamily A member 6-like protein 22 — H0YM25 (reviewed: H0YM25)

All UniProt accessions (1): H0YM25

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA6 family.

RefSeq proteins (2): NP_001383885, NP_001383886 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026737	GOLGA6L	Family

UniProt features (13 total): region of interest 6, 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-H0YM25-F1	71.85	0.16

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chr15q11, NME2_TARGET_GENES, ZSCAN4_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

84 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA6L22	ITSN2	Q9NZM3	238
GOLGA6L22	ITSN1	Q15811	151
GOLGA6L22	USO1	O60763	128
GOLGA6L22	TRIP11	Q15643	124
GOLGA6L22	GORASP2	Q9H8Y8	120
GOLGA6L22	GORASP1	Q9BQQ3	120
GOLGA6L22	STX5	Q13190	112
GOLGA6L22	GOSR1	O95249	100
GOLGA6L22	AKAP9	Q99996	74
GOLGA6L22	PCNT	O95613	74
GOLGA6L22	MAN2A1	Q16706	73
GOLGA6L22	MAN2A2	P49641	73
GOLGA6L22	RUBCNL	Q9H714	63
GOLGA6L22	TMEM192	Q8IY95	56
GOLGA6L22	HCLS1	P14317	56
GOLGA6L22	SPAG5	Q96R06	56
GOLGA6L22	RAB11FIP1	Q6WKZ4	56

IntAct

0 interactions, top by confidence:

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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
154728	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	Pathogenic

SpliceAI

989 predictions. Top by Δscore:

Variant	Effect	Δscore
15:22460816:A:AG	acceptor_gain	1.0000
15:22460817:C:G	acceptor_gain	1.0000
15:22460818:A:AG	acceptor_gain	1.0000
15:22460818:AGT:A	acceptor_loss	1.0000
15:22460818:AGTT:A	acceptor_gain	1.0000
15:22460819:G:GG	acceptor_gain	1.0000
15:22460819:GT:G	acceptor_gain	1.0000
15:22460819:GTT:G	acceptor_gain	1.0000
15:22460819:GTTG:G	acceptor_gain	1.0000
15:22460819:GTTGA:G	acceptor_gain	1.0000
15:22460944:AGGAT:A	donor_gain	1.0000
15:22460945:GGAT:G	donor_gain	1.0000
15:22460945:GGATG:G	donor_gain	1.0000
15:22460946:G:GT	donor_gain	1.0000
15:22460946:GAT:G	donor_gain	1.0000
15:22460947:AT:A	donor_gain	1.0000
15:22460947:ATG:A	donor_loss	1.0000
15:22460948:TG:T	donor_loss	1.0000
15:22460949:G:GG	donor_gain	1.0000
15:22460949:GTG:G	donor_loss	1.0000
15:22462029:TATA:T	acceptor_loss	1.0000
15:22462030:A:AG	acceptor_gain	1.0000
15:22462030:ATAG:A	acceptor_gain	1.0000
15:22462031:T:G	acceptor_gain	1.0000
15:22462031:TAG:T	acceptor_loss	1.0000
15:22462032:A:AG	acceptor_gain	1.0000
15:22462032:A:C	acceptor_loss	1.0000
15:22462032:AG:A	acceptor_gain	1.0000
15:22462033:G:GG	acceptor_gain	1.0000
15:22462033:GG:G	acceptor_gain	1.0000

AlphaMissense

5874 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:22462219:T:C	L93P	0.952
15:22462198:T:C	L86P	0.951
15:22464331:T:C	L198P	0.945
15:22464280:T:C	L181P	0.921
15:22462189:T:A	I83K	0.914
15:22465063:T:C	L224P	0.905
15:22464351:G:C	A205P	0.901
15:22462192:G:C	R84P	0.900
15:22462080:T:C	L76P	0.898
15:22462239:A:C	S100R	0.895
15:22462241:C:A	S100R	0.895
15:22462241:C:G	S100R	0.895
15:22462195:T:C	I85T	0.889
15:22464343:T:C	L202P	0.889
15:22462389:T:C	L118P	0.887
15:22462406:T:C	F124L	0.882
15:22462408:T:A	F124L	0.882
15:22462408:T:G	F124L	0.882
15:22465084:T:C	L231P	0.881
15:22462173:G:C	A78P	0.879
15:22462207:A:C	Q89P	0.878
15:22464268:T:C	L177P	0.877
15:22462231:T:C	L97P	0.873
15:22462431:T:C	L132P	0.870
15:22462227:G:C	A96P	0.867
15:22463887:T:C	L160P	0.865
15:22462189:T:G	I83R	0.856
15:22462427:G:C	A131P	0.854
15:22462189:T:C	I83T	0.853
15:22464247:T:C	L170P	0.851

dbSNP variants (sampled 300 via entrez): RS1001751290 (15:22463302 C>A), RS1001803745 (15:22462524 G>A), RS1002579596 (15:28359493 G>A), RS1002638038 (15:28347671 G>A,C), RS1007283576 (15:22468973 T>C), RS1008164053 (15:22459658 C>G,T), RS1008285431 (15:22460999 G>A,T), RS1008695731 (15:22462401 G>C), RS1009267994 (15:22469213 A>C), RS1010689460 (15:22461618 A>G), RS1011292908 (15:28355849 A>G), RS1012469479 (15:28347598 G>C), RS1012523525 (15:28354022 C>T), RS1014405937 (15:22463376 G>A,T), RS1014660094 (15:22463944 ATGGGTGGTGTGC>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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	decreases expression, increases abundance	1
Smoke	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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