Human Gene MFAP4 (ENST00000299610.5_9) from GENCODE V47lift37

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Description: microfibril associated protein 4, transcript variant 2 (from RefSeq NM_002404.3)
Gencode Transcript: ENST00000299610.5_9
Gencode Gene: ENSG00000166482.12_11
Transcript (Including UTRs)
Position: hg19 chr17:19,286,758-19,290,503 Size: 3,746 Total Exon Count: 6 Strand: -
Coding Region
Position: hg19 chr17:19,287,775-19,290,468 Size: 2,694 Coding Exon Count: 6

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr17:19,286,758-19,290,503)			mRNA (may differ from genome)		Protein (255 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: MFAP4_HUMAN DESCRIPTION: RecName: Full=Microfibril-associated glycoprotein 4; Flags: Precursor; FUNCTION: Could be involved in calcium-dependent cell adhesion or intercellular interactions. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. DISEASE: MFAP4 is deleted in the Smith-Magenis syndrome (SMS) [MIM:182290]. SIMILARITY: Contains 1 fibrinogen C-terminal domain. SEQUENCE CAUTION: Sequence=AAB00968.1; Type=Erroneous initiation;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: MFAP4 Diseases sorted by gene-association score: smith-magenis syndrome (14)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin C016614 1-nitronaphthalene C547126 AZM551248 D000082 Acetaminophen D001104 Arbutin D002994 Clofibrate D003561 Cytarabine D003993 Dibutyl Phthalate D004041 Dietary Fats D004052 Diethylnitrosamine D004054 Diethylstilbestrol D004237 Diuron D004997 Ethinyl Estradiol D006540 Herbicides D015474 Isotretinoin D008727 Methotrexate D010656 Phenylephrine D012524 Sarin D012999 Soman D013739 Testosterone D017974 Uranium Compounds D014635 Valproic Acid D001335 Vehicle Emissions C470047 aminomethylphosphonic acid C488369 dasatinib C014476 diethyl maleate C069837 fullerene C60 C016517 indole-3-carbinol C011890 kojic acid C031721 naphthalene C041786 palm oil C017947 sodium arsenite C025643 vinclozolin

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 392.75 RPKM in Artery - Aorta Total median expression: 3285.80 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-1.50	35	-0.043	Picture	PostScript	Text
3' UTR	-330.70	1017	-0.325	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR002181 - Fibrinogen_a/b/g_C
IPR014716 - Fibrinogen_a/b/g_C_1
IPR014715 - Fibrinogen_a/b/g_C_2

Pfam Domains:
PF00147 - Fibrinogen beta and gamma chains, C-terminal globular domain

SCOP Domains:
110581 - Indigoidine synthase A-like
56496 - Fibrinogen C-terminal domain-like

ModBase Predicted Comparative 3D Structure on P55083


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005515 protein binding Biological Process: GO:0007155 cell adhesion GO:0009650 UV protection GO:0010712 regulation of collagen metabolic process GO:0048251 elastic fiber assembly GO:0071493 cellular response to UV-B GO:0097435 supramolecular fiber organization Cellular Component: GO:0001527 microfibril GO:0005576 extracellular region GO:0031012 extracellular matrix GO:0071953 elastic fiber

Descriptions from all associated GenBank mRNAs


	LF209101 - JP 2014500723-A/16604: Polycomb-Associated Non-Coding RNAs. BC035560 - Homo sapiens, Similar to RIKEN cDNA 1110007F23 gene, clone IMAGE:5180842, mRNA. BC019006 - Homo sapiens microfibrillar-associated protein 4, mRNA (cDNA clone IMAGE:3529604), ** WARNING: chimeric clone **. LF209100 - JP 2014500723-A/16603: Polycomb-Associated Non-Coding RNAs. L38486 - Human microfibril-associated glycoprotein 4 (MFAP4) mRNA, 3' end of cds. JD158246 - Sequence 139270 from Patent EP1572962. JD401304 - Sequence 382328 from Patent EP1572962. JD137502 - Sequence 118526 from Patent EP1572962. BC062415 - Homo sapiens microfibrillar-associated protein 4, mRNA (cDNA clone MGC:70468 IMAGE:6187998), complete cds. BC047725 - Homo sapiens cDNA clone IMAGE:5752730, containing frame-shift errors. LF326124 - JP 2014500723-A/133627: Polycomb-Associated Non-Coding RNAs. JD266378 - Sequence 247402 from Patent EP1572962. JD392377 - Sequence 373401 from Patent EP1572962. AK293056 - Homo sapiens cDNA FLJ75005 complete cds, highly similar to Homo sapiens microfibrillar-associated protein 4 (MFAP4), mRNA. JD054404 - Sequence 35428 from Patent EP1572962. AK304528 - Homo sapiens cDNA FLJ50064 complete cds, highly similar to Microfibril-associated glycoprotein 4 precursor. JD112687 - Sequence 93711 from Patent EP1572962. LF326123 - JP 2014500723-A/133626: Polycomb-Associated Non-Coding RNAs. JD456896 - Sequence 437920 from Patent EP1572962. JD317451 - Sequence 298475 from Patent EP1572962. JD098268 - Sequence 79292 from Patent EP1572962. JD232297 - Sequence 213321 from Patent EP1572962. JD410705 - Sequence 391729 from Patent EP1572962. JD243741 - Sequence 224765 from Patent EP1572962. JD282565 - Sequence 263589 from Patent EP1572962. JD262385 - Sequence 243409 from Patent EP1572962. JD348544 - Sequence 329568 from Patent EP1572962. JD088075 - Sequence 69099 from Patent EP1572962. JD400454 - Sequence 381478 from Patent EP1572962. JD171066 - Sequence 152090 from Patent EP1572962. JD049767 - Sequence 30791 from Patent EP1572962. LF326122 - JP 2014500723-A/133625: Polycomb-Associated Non-Coding RNAs. JD464476 - Sequence 445500 from Patent EP1572962. JD126806 - Sequence 107830 from Patent EP1572962. JD191096 - Sequence 172120 from Patent EP1572962. CU687546 - Synthetic construct Homo sapiens gateway clone IMAGE:100022789 5' read MFAP4 mRNA. HQ447466 - Synthetic construct Homo sapiens clone IMAGE:100070795; CCSB014306_01 microfibrillar-associated protein 4 (MFAP4) gene, encodes complete protein. KJ897184 - Synthetic construct Homo sapiens clone ccsbBroadEn_06578 MFAP4 gene, encodes complete protein. LF326121 - JP 2014500723-A/133624: Polycomb-Associated Non-Coding RNAs. MA561701 - JP 2018138019-A/133627: Polycomb-Associated Non-Coding RNAs. MA561700 - JP 2018138019-A/133626: Polycomb-Associated Non-Coding RNAs. MA561699 - JP 2018138019-A/133625: Polycomb-Associated Non-Coding RNAs. MA561698 - JP 2018138019-A/133624: Polycomb-Associated Non-Coding RNAs. MA444678 - JP 2018138019-A/16604: Polycomb-Associated Non-Coding RNAs. MA444677 - JP 2018138019-A/16603: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein P55083 (Reactome details) participates in the following event(s): R-HSA-2161282 Elastic fibres bind associated proteins R-HSA-2129379 Molecules associated with elastic fibres R-HSA-1566948 Elastic fibre formation R-HSA-1474244 Extracellular matrix organization

Other Names for This Gene


	Alternate Gene Symbols: A8KAJ1, A8MVM2, B4E317, ENST00000299610.1, ENST00000299610.2, ENST00000299610.3, ENST00000299610.4, MFAP4_HUMAN, NM_002404, P55083, Q6P680, uc317mkv.1, uc317mkv.2 UCSC ID: ENST00000299610.5_9 RefSeq Accession: NM_002404.3 Protein: P55083 (aka MFAP4_HUMAN or MFA4_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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