GOLGA2 golgin A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOLGA2provided by HGNC
Official Full Name: golgin A2provided by HGNC
Primary source: HGNC:HGNC:4425
See related: Ensembl:ENSG00000167110 MIM:602580; AllianceGenome:HGNC:4425
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GM130; DEDHMB
Summary: The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in prostate (RPKM 18.6), esophagus (RPKM 17.4) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 9q34.11

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128255829..128276007, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140462943..140483121, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (131018108..131038286, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.
Title: WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.
Associations of IFT20 and GM130 protein expressions with clinicopathological features and survival of patients with lung adenocarcinoma.
Title: Associations of IFT20 and GM130 protein expressions with clinicopathological features and survival of patients with lung adenocarcinoma.
Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.
Title: Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.
Liquid-liquid phase separation of the Golgi matrix protein GM130.
Title: Liquid-liquid phase separation of the Golgi matrix protein GM130.
Identification and Verification of Two Novel Differentially Expressed Proteins from Non-neoplastic Mucosa and Colorectal Carcinoma Via iTRAQ Combined with Liquid Chromatography-Mass Spectrometry.
Title: Identification and Verification of Two Novel Differentially Expressed Proteins from Non-neoplastic Mucosa and Colorectal Carcinoma Via iTRAQ Combined with Liquid Chromatography-Mass Spectrometry.
Markers of malignant prostate cancer cells: Golgi localization of alpha-mannosidase 1A at GM130-GRASP65 site and appearance of high mannose N-glycans on cell surface.
Title: Markers of malignant prostate cancer cells: Golgi localization of α-mannosidase 1A at GM130-GRASP65 site and appearance of high mannose N-glycans on cell surface.
DGAT1 Inhibitor Suppresses Prostate Tumor Growth and Migration by Regulating Intracellular Lipids and Non-Centrosomal MTOC Protein GM130.
Title: DGAT1 Inhibitor Suppresses Prostate Tumor Growth and Migration by Regulating Intracellular Lipids and Non-Centrosomal MTOC Protein GM130.
GM130 expression was significantly decreased in tonsil tissues and peripheral blood mononuclear cells of IgA nephropathy (IgAN) patients. Downregulation of GM130 can increase IgA1 O-glycosylation deficiency, which is thought to reduce C1GALT1 expression but not affect the expression of ST6GalNAC2. GM130 plays an important role in IgA1 O-glycans deficiency in IgAN patients, by negatively regulating C1GALT1 expression.
Title: Loss of the Golgi Matrix Protein 130 Cause Aberrant IgA1 Glycosylation in IgA Nephropathy.
SEPT1 function depends on the Golgi matrix protein GOLGA2 and on centrosomal proteins, including CEP170 and components of gamma-tubulin ring complex, to facilitate the perinuclear concentration of Golgi membranes.
Title: A SEPT1-based scaffold is required for Golgi integrity and function.
In situ proximity ligation assays of Golgi localization of alpha-mannosidase IA at giantin versus GM130-GRASP65 site, and absence or presence of N-glycans terminated with alpha3-mannose on trans-Golgi glycosyltransferases may be useful for distinguishing indolent from aggressive prostate cancer cells.
Title: Shifted Golgi targeting of glycosyltransferases and α-mannosidase IA from giantin to GM130-GRASP65 results in formation of high mannose N-glycans in aggressive prostate cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental delay with hypotonia, myopathy, and brain abnormalities MedGen: C5830270 OMIM: 620240 GeneReviews: Not available	not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies GOLGA2, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed
	nef	HIV-1 Nef causes the FMS N-glycosylation defect and induces relocalization of the GM130 by activating the p56Hck/MEK/ERK/GRASP65 phosphorylation cascade in the Golgi	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH80222 (e-PCR)
- UniSTS:84020

G54069 (e-PCR)
- UniSTS:109451

RH69450 (e-PCR)
- UniSTS:90288

RH39755 (e-PCR)
- UniSTS:85208

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables importin-alpha family protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	NAS Non-traceable Author Statement more info	PubMed
involved_in Golgi ribbon formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in asymmetric cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in centrosome cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in meiotic spindle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule nucleation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in COPII-coated ER to Golgi transport vesicle	IMP Inferred from Mutant Phenotype more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi cis cisterna	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi cis cisterna	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi cisterna membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi cisterna membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in cis-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in cis-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in cis-Golgi network	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: golgin subfamily A member 2

Names: 130 kDa cis-Golgi matrix protein; GM130 autoantigen; Golgi matrix protein GM130; SY11 protein; golgi autoantigen, golgin subfamily a, 2; golgin-95

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001366244.2 → NP_001353173.2 golgin subfamily A member 2 isoform 1

Status: REVIEWED

Source sequence(s)

AL590708

Consensus CDS

CCDS94495.1

UniProtKB/TrEMBL

A0A8J9BZL8, B7ZC06

Related

ENSP00000478799.2, ENST00000611957.5

Conserved Domains (3) summary

COG1196
Location:183 → 473

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:408 → 935

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:980 → 1025

GM130_C; GM130 C-terminal binding motif
NM_001366246.2 → NP_001353175.2 golgin subfamily A member 2 isoform 3

Status: REVIEWED

Source sequence(s)

AL590708

Consensus CDS

CCDS94494.1

UniProtKB/TrEMBL

A0A8I5KZ68, B7ZC06

Related

ENSP00000510790.1, ENST00000687179.1

Conserved Domains (3) summary

TIGR02168
Location:178 → 445

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam15070
Location:381 → 908

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:953 → 998

GM130_C; GM130 C-terminal binding motif
NM_001389695.2 → NP_001376624.2 golgin subfamily A member 2 isoform 14

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

B7ZC06

Conserved Domains (3) summary

COG1196
Location:187 → 468

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:403 → 930

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:975 → 1020

GM130_C; GM130 C-terminal binding motif
NM_001389696.2 → NP_001376625.2 golgin subfamily A member 2 isoform 4

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

B7ZC06

Conserved Domains (3) summary

COG1196
Location:183 → 500

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:408 → 929

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:974 → 1019

GM130_C; GM130 C-terminal binding motif
NM_001389697.2 → NP_001376626.2 golgin subfamily A member 2 isoform 5

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

B7ZC06

Conserved Domains (3) summary

TIGR02168
Location:152 → 441

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam15070
Location:377 → 904

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:949 → 994

GM130_C; GM130 C-terminal binding motif
NM_001389698.2 → NP_001376627.2 golgin subfamily A member 2 isoform 6

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

B7ZC06

Conserved Domains (3) summary

COG0419
Location:187 → 554

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam15070
Location:381 → 902

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:947 → 992

GM130_C; GM130 C-terminal binding motif
NM_001389699.2 → NP_001376628.2 golgin subfamily A member 2 isoform 7

Status: REVIEWED

Source sequence(s)

AL590708

Consensus CDS

CCDS94493.1

UniProtKB/TrEMBL

A0A8I5QJQ7, B7ZC06

Related

ENSP00000510145.1, ENST00000686291.1

Conserved Domains (3) summary

COG1196
Location:186 → 433

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:368 → 895

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:940 → 985

GM130_C; GM130 C-terminal binding motif
NM_001389700.2 → NP_001376629.2 golgin subfamily A member 2 isoform 8

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

B7ZC06

Conserved Domains (3) summary

TIGR02168
Location:154 → 432

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam15070
Location:368 → 895

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:940 → 985

GM130_C; GM130 C-terminal binding motif
NM_001389701.2 → NP_001376630.2 golgin subfamily A member 2 isoform 9

Status: REVIEWED

Source sequence(s)

AL590708

Consensus CDS

CCDS94492.1

UniProtKB/TrEMBL

A0A8I5KNZ1, B7ZC06

Related

ENSP00000508841.1, ENST00000693185.1

Conserved Domains (3) summary

TIGR02168
Location:151 → 418

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam15070
Location:354 → 881

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:926 → 971

GM130_C; GM130 C-terminal binding motif
NM_001389702.2 → NP_001376631.2 golgin subfamily A member 2 isoform 10

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

B7ZC06

Conserved Domains (3) summary

COG1196
Location:121 → 411

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:346 → 873

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:918 → 963

GM130_C; GM130 C-terminal binding motif
NM_001389703.2 → NP_001376632.2 golgin subfamily A member 2 isoform 11

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

B7ZC06

Conserved Domains (3) summary

COG1196
Location:159 → 406

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:341 → 868

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:913 → 958

GM130_C; GM130 C-terminal binding motif
NM_001389704.2 → NP_001376633.2 golgin subfamily A member 2 isoform 12

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

A0A087WYC0

Conserved Domains (3) summary

COG1196
Location:70 → 355

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:263 → 784

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:829 → 874

GM130_C; GM130 C-terminal binding motif
NM_001389705.2 → NP_001376634.2 golgin subfamily A member 2 isoform 13

Status: REVIEWED

Source sequence(s)

AL590708

UniProtKB/TrEMBL

A0A1W2PQY5

Related

ENSP00000481685.2, ENST00000610329.5

Conserved Domains (3) summary

COG1196
Location:92 → 348

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:250 → 777

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:822 → 867

GM130_C; GM130 C-terminal binding motif
NM_004486.6 → NP_004477.5 golgin subfamily A member 2 isoform 2

Status: REVIEWED

Source sequence(s)

AL590708

Consensus CDS

CCDS6896.2

UniProtKB/Swiss-Prot

A0A0C4DGS5, Q08379, Q6GRM9, Q9BRB0, Q9NYF9

UniProtKB/TrEMBL

B7ZC06

Related

ENSP00000416097.4, ENST00000421699.8

Conserved Domains (3) summary

COG1196
Location:156 → 446

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam15070
Location:381 → 908

GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

pfam19046
Location:953 → 998

GM130_C; GM130 C-terminal binding motif