COG4 - component of oligomeric golgi complex 4 Gene

Also Known as COD1; CDG2J; SWILS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25839

About COG4

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:70,480,567-70,523,554 (from NCBI)

This gene has 25 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 19.4), skin (RPKM 14.3) and 25 other tissues.

Summary

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

COG4 Products (3)

mRNA	Protein	Name
NM_001195139.2	NP_001182068.2	conserved oligomeric Golgi complex subunit 4 isoform 2
NM_001365426.1	NP_001352355.1	conserved oligomeric Golgi complex subunit 4 isoform 3
NM_015386.3	NP_056201.2	conserved oligomeric Golgi complex subunit 4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	19651599	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15047703	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	19536132	GOA
involved in glycosylation	IMP IMP: Inferred from mutant phenotype	27066481	GOA
involved in retrograde transport, vesicle recycling within Golgi	IMP IMP: Inferred from mutant phenotype	27066481	GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	19536132	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Golgi transport complex	IDA IDA: Inferred from direct assay	15047703	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COG4 Protein Structure

COG4

0
200
400
600
789 a.a.

Protein Preferred Names	Protein Names
conserved oligomeric Golgi complex subunit 4	COG complex subunit 4

COG4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COG4	Q9H9E3	CTNNA3	Homo sapiens	Q9UI47-2	Validated Y2H	32296183
Intra	COG4	Q9H9E3	ANKRD11	Homo sapiens	X5D778	Validated Y2H	32296183
Intra	COG4	Q9H9E3	COG2	Homo sapiens	Q14746	CoIP	15047703
Intra	COG4	Q9H9E3	COG5	Homo sapiens	Q9UP83	CoIP	15047703
Intra	COG4	Q9H9E3	COG7	Homo sapiens	P83436	CoIP	15047703
Intra	COG4	Q9H9E3	COG7	Homo sapiens	P83436	Anti Bait CoIP	19536132
Intra	COG4	Q9H9E3	STX5	Homo sapiens	Q13190	Pull Down	19536132
Intra	COG4	Q9H9E3	SCFD1	Homo sapiens	Q8WVM8	Pull Down	19536132
Intra	COG4	Q9H9E3	SCFD1	Homo sapiens	Q8WVM8	Competition Binding	19536132
Intra	COG4	Q9H9E3	SCFD1	Homo sapiens	Q8WVM8	Anti Tag CoIP	19536132
Intra	COG4	Q9H9E3	SCFD1	Homo sapiens	Q8WVM8	Anti Bait CoIP	19536132
Intra	COG4	Q9H9E3	FARSA	Homo sapiens	Q9Y285	Validated Y2H	32296183
Intra	COG4	Q9H9E3	SORBS3	Homo sapiens	O60504	Y2H Array	32296183
Intra	COG4	Q9H9E3	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	32296183
Intra	COG4	Q9H9E3	MUL1	Homo sapiens	Q969V5	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Saul-Wilson Syndrome	Microcephalic Osteodysplastic Dysplasia Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type SWILS Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
Congenital Disorder Of Glycosylation, Type Iij	CDG2J Congenital Disorder Of Glycosylation Type Iij Cdg Iij Cdgiij Carbohydrate Deficient Glycoprotein Syndrome Type Iij Cdg Syndrome Type Iij Congenital Disorder Of Glycosylation Type 2j Cog4-Cdg Cdg-Iij Cdgiidj Congenital Disorder Of Glycosylation 2j Glycosylation, Congenital Disorder Of, Type Iij
Congenital Disorder Of Glycosylation, Type Iil	CDG2L Congenital Disorder Of Glycosylation Type Iil Cdg Iil Cog6-Cgd Cdgiil Cdg Syndrome Type Iil Congenital Disorder Of Glycosylation Type 2l Cdg-Iil Cdgiidl Congenital Disorder Of Glycosylation 2l Glycosylation, Congenital Disorder Of, Type Iil
Cone-Rod Dystrophy, X-Linked, 2	CORDX2 Cod2 X-Linked Cone-Rod Dystrophy 2 Cone Dystrophy 2, X-Linked Cone Dystrophy, Progressive X-Linked, 2 X-Linked Cone Dystrophy 2 Cone-Rod Dystrophy X-Linked 2 Cone Dystrophy X-Linked 2 Cone Dystrophy-2, X-Linked
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3	Distal Spinal Muscular Atrophy Type 3 DSMA3 Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive Autosomal Recessive Distal Spinal Muscular Atrophy Type 3 Dhmn3 And Dhmn4 Distal Hereditary Motor Neuropathy Type 3 And Type 4 Neuronopathy, Distal Hereditary Motor, Type Iv Hmn4 Dhmn4 Neuropathy, Distal Hereditary Motor, Type Iv Hmn Iv Neuronopathy, Distal Hereditary Motor, Type Iii Hmn3 Dhmn3 Hmn Iii
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Congenital Disorder Of Glycosylation, Type Iih	CDG2H Congenital Disorder Of Glycosylation Type Iih Cdg Iih Cdgiih Carbohydrate Deficient Glycoprotein Syndrome Type Iih Congenital Disorder Of Glycosylation Type 2h Cog8-Cdg Cdg-Iih Cdgiidh Cdg Syndrome Type Iih Congenital Disorder Of Glycosylation 2h Glycosylation, Congenital Disorder Of, Type Iih
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Brachydactyly
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Sponastrime Dysplasia Spondylar And Nasal Alterations With Striated Metaphyses SEMDSP Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Alterations-Striated Metaphyses Syndrome Spondyloepimetaphyseal Dysplasia Sponastrime Type Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation Dysplasia, Spondyloepimetaphyseal, Sponastrime Type
Orbital Cellulitis	Cellulitis Of Orbit
Acute Orbital Inflammation	Acute Inflammation Of Orbit
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02953	COG4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COG4	VGNC	VGNC:27549
Macaca mulatta	COG4	VGNC	VGNC:71206
Rattus norvegicus	COG4	RGD	RGD:1310549
Felis catus	COG4	VGNC	VGNC:61047
Mus musculus	COG4	MGD	MGI:2142808
Canis familiaris	COG4	VGNC	VGNC:39450
Others	COG4	NCBI