COL4A6 - collagen type IV alpha 6 chain Gene

Also Known as DFNX6; DELXq22.3; CXDELq22.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1288

About COL4A6

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:108,155,614-108,439,458 (from NCBI)

This gene has 9 transcripts (splice variants), 147 orthologues, 37 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 9.0), gall bladder (RPKM 7.4) and 16 other tissues.

Summary

This gene encodes one of the six subunits of type IV Collagen, the major structural component 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, alpha 5 type IV Collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

COL4A6 Products (5)

mRNA	Protein	Name
NM_001287758.2	NP_001274687.1	collagen alpha-6(IV) chain isoform 3 precursor
NM_001287759.2	NP_001274688.1	collagen alpha-6(IV) chain isoform 4 precursor
NM_001287760.2	NP_001274689.1	collagen alpha-6(IV) chain isoform 5 precursor
NM_001847.4	NP_001838.2	collagen alpha-6(IV) chain isoform A precursor
NM_033641.4	NP_378667.1	collagen alpha-6(IV) chain isoform B precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	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

COL4A6 Protein Structure

Collagen

0
300
600
900
1200
1500
1691 a.a.

Protein Preferred Names	Protein Names
collagen alpha-6(IV) chain	collagen IV, alpha-6 polypeptide

Related Diseases

Diseases	Alias
Deafness, X-Linked 6	DFNX6 X-Linked Deafness 6 Deafness, X-Linked, 6 Deafness, X-Linked, Type 6
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn	X-Linked Isolated Neurosensory Deafness Type Dfn X-Linked Isolated Neurosensory Hearing Loss Type Dfn X-Linked Isolated Sensorineural Deafness Type Dfn X-Linked Isolated Sensorineural Hearing Loss Type Dfn X-Linked Non-Syndromic Neurosensory Deafness Type Dfn X-Linked Non-Syndromic Neurosensory Hearing Loss Type Dfn X-Linked Non-Syndromic Sensorineural Hearing Loss Type Dfn
Leiomyomatosis
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
X-Linked Alport Syndrome	Nephropathy And Deafness, X-Linked
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Xq22.3 Microdeletion Syndrome X-Linked Diffuse Leiomyomatosis-Alport Syndrome
Leiomyoma	Leiomyomatous Neoplasm Leiomyomatous Tumor Leiomyomas Fibroid Tumor Uterine Fibroids
Colon Leiomyoma	Colonic Leiomyoma
Autosomal Recessive Alport Syndrome	Alport Syndrome, Recessive Type Alport Syndrome, Autosomal Recessive Alport Syndrome Autosomal Recessive Alport Syndrome Recessive Type Nephropathy And Deafness
Deafness, X-Linked 4	DFNX4 Dfn6 Deafness, Nonsyndromic Sensorineural Progressive 6 X-Linked Deafness 4 Deafness, X-Linked 6, Progressive Nonsyndromic Sensorineural Progressive Deafness 6 X-Linked Progressive Deafness 6 Deafness, X-Linked, 4 Deafness Nonsyndromic Sensorineural Progressive 6 Deafness X-Linked 6 Progressive Deafness, X-Linked, Type 4
X-Linked Nonsyndromic Deafness	X-Linked Deafness Deafness, X-Linked
Deafness, X-Linked 5, With Peripheral Neuropathy	Deafness, X-Linked 5 DFNX5 Aunx1 Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy X-Linked Deafness 5 X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1 X-Linked Hsan With Deafness X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness X-Linked Hsan With Hearing Loss X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss Deafness, X-Linked, 5, With Peripheral Neuropathy Deafness, X-Linked, Type 5
Deafness, X-Linked 2	Progressive Deafness With Stapes Fixation DFNX2 Dfn3 Nance Deafness Perilymphatic Gusher-Deafness Syndrome Stapedo-Vestibular Ankylosis Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear X-Linked Deafness 2 X-Linked Mixed Conductive And Neurosensory Deafness X-Linked Mixed Conductive And Sensorineural Deafness Deafness 3 Conductive With Stapes Fixation Deafness Conductive With Stapes Fixation Deafness Mixed With Perilymphatic Gusher Thies-Reis Syndrome Deafness, Conductive, With Stapes Fixation Deafness 3, Conductive, With Stapes Fixation Deafness, Mixed, With Perilymphatic Gusher Conductive Deafness 3 With Stapes Fixation Conductive Deafness With Stapes Fixation Mixed Deafness With Perilymphatic Gusher X-Linked Deafness Type 2 X-Linked Mixed Conductive And Neurosensory Hearing Loss X-Linked Mixed Conductive And Sensorineural Hearing Loss X-Linked Sensorineural Deafness X-Linked Stapes Gusher Syndrome Deafness Mixed With Perilymphatic Gusher, X-Linked Dfn 3 Nonsyndromic Hearing Loss And Deafness Gusher Syndrome Thies Reis Syndrome Progressive Hearing Loss With Stapes Fixation Deafness, X-Linked, 2 Deafness Mixed With Perilymph Gusher X-Linked Deafness, X-Linked, Type 2 Progressive Hearing Loss Stapes Fixation
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
Autosomal Dominant Alport Syndrome	Alport Syndrome, Autosomal Dominant Alport Syndrome Dominant Type Renal Failure And Sensorineural Hearing Loss Alport Syndrome, Dominant Type
Deafness, X-Linked 3	DFNX3 Dfn4 X-Linked Deafness 3 Deafness, X-Linked 4, Congenital Sensorineural Congenital Sensorineural X-Linked Deafness 4
Intravenous Leiomyomatosis	Leiomyomatosis
Brain Small Vessel Disease
Deafness, X-Linked 7	X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome DFNX7 X-Linked Deafness 7 Deafness, X-Linked, 7
Leiomyoma Cutis	Cutaneous Leiomyoma Leiomyoma Of The Skin
Dermis Tumor	Dermis Tumour Neoplasm Of Dermis Tumor Of Dermis Tumour Of Dermis
Brain Small Vessel Disease 1	Col4a1-Related Brain Small Vessel Disease With Hemorrhage Col4a1-Related Familial Vascular Leukoencephalopathy Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy Brain Small Vessel Disease With Axenfeld-Riegar Anomaly Brain Small Vessel Disease With Hemorrhage Brain Small Vessel Disease With Or Without Ocular Anomalies Bsvd1 Infantile Hemiparesis Leukoencephalopathy With Axenfeld-Riegar Anomaly
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
Porencephaly
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
Uterine Benign Neoplasm
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N0444	Rubiadin		99.20%	Unkown
HY-RS02988	COL4A6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COL4A6	VGNC	VGNC:27567
Macaca mulatta	COL4A6	VGNC	VGNC:71300
Felis catus	COL4A6	VGNC	VGNC:97387
Rattus norvegicus	COL4A6	RGD	RGD:1589724
Mus musculus	COL4A6	MGD	MGI:2152695
Canis familiaris	COL4A6	VGNC	VGNC:39477
Others	COL4A6	NCBI