COG4 - component of oligomeric golgi complex 4 Gene

Homo sapiens

Also known as COD1; CDG2J; SWILS

Gene ID: 25839 | Gene type: protein coding

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

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

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

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