COL4A4 - collagen type IV alpha 4 chain Gene

Also Known as BFH; ATS2; CA44

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1286

About COL4A4

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:226,967,360-227,164,488 (from NCBI)

This gene has 8 transcripts (splice variants), 157 orthologues, 37 paralogues and is associated with 6 phenotypes. Broad expression in kidney (RPKM 5.3), thyroid (RPKM 4.9) and 18 other tissues.

Summary

This gene encodes one of the six subunits of type IV Collagen, the major structural component of basement membranes. This particular Collagen IV subunit, however, is only found in a subset of basement membranes. Like the Other members of the type IV Collagen gene family, this gene is organized in a head-to-head conformation with another type IV Collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for Collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]

COL4A4 Products (1)

mRNA	Protein	Name
NM_000092.5	NP_000083.3	collagen alpha-4(IV) chain precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables extracellular matrix structural constituent	IMP IMP: Inferred from mutant phenotype	17942953	GOA
enables molecular adaptor activity	EXP EXP: Inferred from Experiment	30443360	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glomerular basement membrane development	IMP IMP: Inferred from mutant phenotype	17942953	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basement membrane	IDA IDA: Inferred from direct assay	2211832	GOA
part of collagen type IV trimer	IDA IDA: Inferred from direct assay	7523402	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

COL4A4 Protein Structure

Collagen

0
300
600
900
1200
1500
1690 a.a.

Protein Preferred Names	Protein Names
collagen alpha-4(IV) chain	Collagen IV, alpha-4 polypeptide

COL4A4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811196	Collagen 4 alpha 4 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hematuria, Benign Familial	Benign Familial Hematuria BFH Thin Membrane Nephropathy Tmn Thin Basement Membrane Nephropathy Thin-Basement-Membrane Nephropathy Hematuria, Familial Benign Hematuria Benign Familial Hematuria, Benign, Familial Thin Basement Membrane Disease
Autosomal Recessive Alport Syndrome	Alport Syndrome, Recessive Type Alport Syndrome, Autosomal Recessive Alport Syndrome Autosomal Recessive Alport Syndrome Recessive Type Nephropathy And Deafness
Alport Syndrome 2, Autosomal Recessive	ATS2
Autosomal Dominant Alport Syndrome	Alport Syndrome, Autosomal Dominant Alport Syndrome Dominant Type Renal Failure And Sensorineural Hearing Loss Alport Syndrome, Dominant Type
Glomerulonephritis	Bright'S Disease
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Alport Syndrome 3, Autosomal Dominant	ATS3 Nephritis-Deafness Syndrome Nephropathy And Deafness
Specific Language Impairment 5	SLI5 Language Impairment, Specific, Type 5
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Diffuse Mesangial Sclerosis	Familial Mesangial Sclerosis Mesangial Sclerosis, Diffuse Dms Diffuse Isolated Mesangial Sclerosis Isolated Diffuse Mesangial Sclerosis Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis
X-Linked Alport Syndrome	Nephropathy And Deafness, X-Linked
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Leiomyomatosis
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Pierson Syndrome	Microcoria-Congenital Nephrotic Syndrome Microcoria-Congenital Nephrosis Syndrome PIERS Microcoria - Congenital Nephrosis Microcoria - Congenital Nephrotic Syndrome PIERSS
Corneal Dystrophy, Posterior Polymorphous, 1	Posterior Polymorphous Corneal Dystrophy Ppcd Maumenee Corneal Dystrophy Posterior Polymorphous Corneal Dystrophy 1 PPCD1 Corneal Dystrophy, Hereditary Polymorphous Posterior Corneal Endothelial Dystrophy 1, Autosomal Dominant Schlichting Dystrophy Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly Ched1, Formerly Hereditary Polymorphus Posterior Corneal Dystrophy Posterior Polymorphous Dystrophy Hereditary Polymorphous Posterior Corneal Dystrophy Dystrophy, Corneal, Posterior Polymorphous Dystrophy, Corneal, Posterior Polymorphous, Type 1 Polymorphous Corneal Dystrophy Corneal Endothelial Dystrophy 2
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Irregular Astigmatism
Brain Small Vessel Disease
Porencephaly
Anti-Basement Membrane Glomerulonephritis	Anti-Gbm Glomerulonephritis
Goodpasture Syndrome	Anti-Glomerular Basement Membrane Disease Anti-Gbm Disease Pulmonary Renal Syndrome Anti-Glomerular Basement Membrane Antibody Disease Glomerulonephritis - Pulmonary Hemorrhage Rapidly Progressive Glomerulonephritis With Pulmonary Hemorrhage Anti-Gbm Syndrome Goodpasture'S Syndrome Anti-Basement Membrane Glomerulonephritis
Nail Disorder, Nonsyndromic Congenital, 8	Nonsyndromic Congenital Nail Disorder 8 Toenail Dystrophy, Isolated NDNC8 Isolated Toenail Dystrophy Nail Disorder, Non-Syndromic Congenital, 8 Isolated Toenail Dystrophy Without Skin Fragility Nail Disorder, Nonsyndromic Congenital, Type 8
Immature Cataract	Incipient Cataract Incipient Senile Cataract Water Clefts
Corneal Dystrophy, Posterior Polymorphous, 3	Posterior Polymorphous Corneal Dystrophy 3 PPCD3 Dystrophy, Corneal, Posterior Polymorphous, Type 3
Retinal Arteries, Tortuosity Of	Retinal Arterial Tortuosity Retinal Hemorrhage With Vascular Tortuosity RATOR Tortuosity Of Retinal Arteries Retinal Arteriolar Tortuosity Familial Isolated Retinal Arterial Tortuosity Tortuosity, Arteries, Retinal
Autoimmune Disease Of Urogenital Tract
Rapidly Progressive Glomerulonephritis	Glomerulonephritis Rapidly Progressive Idiopathic Crescentic Glomerulonephritis
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	MCC2D Mcc2 Deficiency 3-Methylcrotonyl Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Ii Methylcrotonylglycinuria, Type Ii 3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Type Ii Mcgii Methylcrotonylglycinuria Type Ii
Recurrent Corneal Erosion	Recurrent Erosion Of Cornea Recurrent Erosion Syndrome Corneal Erosion Non-Traumatic Recurrent Erosion Of Cornea
Papillorenal Syndrome	Renal Coloboma Syndrome Coloboma Of Optic Nerve With Renal Disease Renal-Coloboma Syndrome Optic Nerve Coloboma With Renal Disease Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies Renal-Coloboma Syndrome With Macular Abnormalities Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities Cakut With Or Without Ocular Abnormalities PAPRS Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease Coloboma-Ureteral-Renal Syndrome Oncr Optic Nerve Coloboma Renal Syndrome Rcs Papillo-Renal Syndrome Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Fuchs' Endothelial Dystrophy	Fuchs Endothelial Corneal Dystrophy Fuchs Endothelial Dystrophy Fuchs Dystrophy Fced Fuchs' Corneal Dystrophy Fuchs' Endothelial Corneal Dystrophy Fuchs Atrophy Fuchs Corneal Dystrophy Endoepithelial Corneal Dystrophy Fecd Late Hereditary Endothelial Dystrophy Corneal Dystrophy, Fuchs Endothelial Dystrophy, Corneal, Fuchs Endothelial Corneal Dystrophy, Fuchs' Endothelial, 1
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02986	COL4A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18857	Col4a4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25349	Col4a4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	COL4A4	VGNC	VGNC:39476
Bos taurus	COL4A4	VGNC	VGNC:50083
Rattus norvegicus	COL4A4	RGD	RGD:1305355
Mus musculus	COL4A4	MGD	MGI:104687
Macaca mulatta	COL4A4	VGNC	VGNC:71299
Felis catus	COL4A4	VGNC	VGNC:61063
Others	COL4A4	NCBI