MARRVEL: Search Result

Human Gene Description (OMIM)COLLAGEN, TYPE IV, ALPHA-4; COL4A4

MIM number: 120131

Description: Type IV collagen is found only in basement membranes, where it is the major structural component. COL4A4 is 1 of 6 alpha chains that form the heterotrimeric type IV collagen molecules (Mariyama et al., 1994).

Gene-Phenotype RelationshipsOMIM

Phenotype	Phenotype MIM number	Inheritance
Alport syndrome 2, autosomal recessive	203780	Autosomal recessive
Hematuria, familial benign, 1	141200	Autosomal dominant

Reported Alleles from OMIMCOL4A4

Phenotype	Mutation	dbSNP

ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	COL4A4, GLY1201SER	rs121912858
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	COL4A4, SER1238TER	rs121912859
HEMATURIA, BENIGN FAMILIAL, 1	COL4A4, GLY897GLU	rs121912860
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	COL4A4, ARG1377TER	rs121912861
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	COL4A4, CYS1641TER	rs121912862
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	COL4A4, PRO1572LEU	rs121912863
HEMATURIA, BENIGN FAMILIAL, 1	COL4A4, 1-BP INS, 3222A	rs1559493506
HEMATURIA, BENIGN FAMILIAL, 1	COL4A4, GLY960ARG	rs769783985

Control Population Gene Summary (gnomAD database)

No matches found

Control Population Gene Summary COL4A4 (ExAC Gene Table)

Allele count
Allele number
Homozygous count
Allele frequency
Gene

Disease Population (Geno2MP database)COL4A4

Reported Alleles from ClinVarCOL4A4

Copy Number Variation in Control Population (DGV Database)COL4A4

Position	Size	Type	Subtype	Frequency	Gain	Loss	Sample Size	References	Genes
2 227190317 228285129	1094812	CNV	gain	0.00005740	1	0	17421	21841781	COL4A3 COL4A4 MIR5702 IRS1 RHBDD1 MFF TM4SF20 LOC654841
2 227906465 227906664	199	CNV	deletion	0.02083333	0	2	96	23290073	COL4A4
2 227908538 227922128	13590	CNV	gain+loss	0.05000000	1	1	40	19812545	COL4A4
2 227910495 227910577	82	CNV	deletion	0.50000000	0	1	2	24896259	COL4A4
2 227910955 227912102	1147	CNV	deletion	0.00434405	0	5	1151	23128226	COL4A4
2 227910959 227912141	1182	CNV	loss	0.00918530	0	23	2504	21293372	COL4A4
2 228014074 228018785	4711	CNV	loss	0.00049358	0	1	2026	19592680	COL4A4
2 228023483 228023499	16	CNV	insertion	0.02702703	5	0	185	20981092	COL4A4
2 228023489 228023490	1	CNV	mobile element insertion	0.02702703	5	0	185	20981092	COL4A4
2 228023698 228035507	11809	CNV	loss	0.00039936	0	1	2504	21293372	COL4A3 COL4A4

Gene Function TableCOL4A4

Show only best DIOPTv6 score gene

	Homolog	DIOPT Score	Expression	Molecular function	Cellular component	Biological process
Human	COL4A4	NA	No data available	extracellular matrix structural constituent	collagen type IV trimer basal lamina	glomerular basement membrane development
Mouse	Col4a4	9/13	urinary system	No term based on experiment	collagen type IV trimer basement membrane	glomerular basement membrane development
Col4a2	2/13	extraembryonic component alimentary system urinary system reproductive system embryo mesenchyme Show 1 more visual system Hide	No term based on experiment	collagen type IV trimer basement membrane extracellular matrix	transcription, DNA-templated
Col4a6	2/13	alimentary system limbs nervous system urinary system reproductive system Show 6 more musculoskeletal system exocrine system embryo mesenchyme auditory system visual system olfactory system Hide	structural molecule activity	collagen type IV trimer basement membrane	extracellular matrix organization cellular response to amino acid stimulus
Col4a1	2/13	extraembryonic component embryo endoderm embryo ectoderm embryo mesoderm cardiovascular system Show 16 more alimentary system limbs nervous system respiratory system liver and biliary system urinary system reproductive system integumental system hemolymphoid system musculoskeletal system connective tissue endocrine system exocrine system embryo mesenchyme auditory system visual system Hide	No term based on experiment	basement membrane extracellular matrix	neuromuscular junction development cellular response to amino acid stimulus
Col4a3	2/13	nervous system urinary system reproductive system embryo mesenchyme	No term based on experiment	basement membrane	cell surface receptor signaling pathway glomerular basement membrane development
Col4a5	2/13	extraembryonic component cardiovascular system alimentary system nervous system respiratory system Show 8 more liver and biliary system urinary system reproductive system connective tissue endocrine system exocrine system embryo mesenchyme visual system Hide	No term based on experiment	collagen type IV trimer basement membrane basal lamina neuromuscular junction	neuromuscular junction development
Zebrafish	col4a5	2/12	lens midbrain hindbrain boundary otic vesicle spinal cord swim bladder Show 18 more diencephalon epidermis gut liver neural plate notochord pronephros neuromast postcranial axial skeleton integument optic tectum intestinal bulb neural tube pharyngeal arch lens epithelium alar plate midbrain region swim bladder bud hindbrain neural keel Hide	No term based on experiment	No term based on experiment	axon target recognition extracellular matrix organization retinal ganglion cell axon guidance
Drosophila	Cg25C	3/12	Head Eye Brain Thoracic-Abdominal Ganglion Fat Body Heart Carcass Ovary VirginFemale Spermatheca InseminatedFemale Spermatheca	No term based on experiment	No term based on experiment	oviduct morphogenesis post-embryonic digestive tract morphogenesis cardiac muscle cell development intestinal epithelial structure maintenance
vkg	2/12	Head Brain Thoracic-Abdominal Ganglion Fat Body Heart Carcass Ovary VirginFemale Spermatheca InseminatedFemale Spermatheca	No term based on experiment	lipid particle	Malpighian tubule morphogenesis skeletal muscle tissue development anterior Malpighian tubule development
C Elegans	emb-9	3/12		extracellular matrix structural constituent	proteinaceous extracellular matrix collagen trimer basement membrane inductive cell migration	muscle organ development extracellular matrix organization hatching positive regulation of protein secretion striated muscle myosin thick filament assembly
let-2	2/12		structural molecule activity extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength	proteinaceous extracellular matrix collagen trimer collagen type IV trimer basement membrane inductive cell migration	cellular component organization hatching

FlyAtlas Organ/Tissue Expression, larval vs. adult

< 10

< 100

< 500

< 1000

>= 1000

	Adult	Larval
Head	338.0	NA
Eye	103.9	NA
Brain	369.0	NA
Thoracic-Abdominal Ganglion	710.0	NA
Crop	49.4	NA
Midgut	20.2	41.2
Hindgut	64.5	268.5
Malpighian Tubules	29.9	55.2
Fat Body	1374.6	519.2
Salivary Gland	15.2	126.9
Heart	1899.8	NA
Carcass	606.9	326.8
Ovary	155.4	NA
Testis	44.8	NA
VirginFemale Spermatheca	658.0	NA
InseminatedFemale Spermatheca	1035.8	NA
Male Accessory Gland	39.6	NA
Central Nervous System	NA	280.8
Trachea	NA	229.3