Hs07485808_cn

• Gene Symbol: MMP23B
• Assay Reference Genome Location: Chr.1:1632246 on build GRCh38
• Cytoband: 1p36.33

Target Gene Details

• Entrez Gene ID: 8510
• Gene Name: matrix metallopeptidase 23B
• Gene Aliases: MIFR, MIFR-1, MMP22, MMP23A
• Location: Chr.1:1631681-1634654 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MMP23B	NM_006983.1	1	66	NP_008914.1
	XM_017002615.1	1	566	XP_016858104.1
	XM_017002616.1	1	566	XP_016858105.1
	XM_017002617.1	1	566	XP_016858106.1
	AB010961.1	1	55	BAA24833.1
	AB010962.1	1	80	BAA24834.1
	AF056200.1			AAC62616.1
	AJ005256.1	1	66	CAB38176.1
	AK297700.1	1	70
	BC025719.1	1	57	AAH25719.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv5n111	Chr.1:1575421 - 1823403 on Build GRCh38	Deletion	NADK MMP23B MMP23A GNB1 CDK11B FNDC10 CDK11A SLC35E2B MIB2 SLC35E2
dgv8n100	Chr.1:1569349 - 1741152 on Build GRCh38	Loss	MMP23B MMP23A CDK11B FNDC10 SSU72 CDK11A SLC35E2B MIB2 SLC35E2
esv3575582	Chr.1:1624086 - 1721336 on Build GRCh38	Gain	MMP23B MMP23A CDK11B CDK11A SLC35E2B MIB2
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	NADK LOC107985728 AURKAIP1 CCNL2 MIR6727 LOC100288069 PLEKHN1 TTLL10 LOC107985729 TMEM88B LINC00115 TMEM240 LOC100287934 LINC01342 ANKRD65 ATAD3A FAM132A ACAP3 AGRN PUSL1 LOC100130417 LINC01128 MMP23A KLHL17 SLC35E2B UBE2J2 CPTP VWA1 LOC148413 LOC105378948 DVL1 ATAD3B TAS1R3 MRPL20 FAM41C MIR200A RNF223 SCNN1D CDK11B MXRA8 CDK11A SDF4 ISG15 TNFRSF4 LOC102724312 PERM1 MIR6726 FAM87B LOC100288175 SAMD11 LOC284600 SLC35E2 TTLL10-AS1 B3GALT6 TNFRSF18 FNDC10 ATAD3C MIR429 C1orf159 MIR6808 CPSF3L MMP23B MIR200B SSU72 HES4 MIB2 NOC2L
nsv1160797	Chr.1:1566216 - 1805918 on Build GRCh38	Duplication	NADK MMP23B MMP23A GNB1 CDK11B FNDC10 SSU72 CDK11A SLC35E2B MIB2 SLC35E2
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	AURKAIP1 CCNL2 LOC100288069 PLEKHN1 SKI FAAP20 TTLL10 DDX11L1 TMEM88B LINC00115 LINC01342 ANKRD65 LOC100134822 OR4F5 AGRN LOC100130417 CFAP74 LOC105378949 MMP23A KLHL17 SLC35E2B UBE2J2 MORN1 VWA1 OR4F16 MIR6859-2 LOC148413 DVL1 MTND1P23 ATAD3B LOC105378589 TAS1R3 MRPL20 LOC107984841 RNF223 SCNN1D CDK11B MXRA8 CDK11A SDF4 FAM138A TNFRSF4 LOC102724312 MIR6726 FAM87B LOC100132287 SLC35E2 TTLL10-AS1 FNDC10 LOC105378591 ATAD3C LOC729737 MIR6859-1 CPSF3L MMP23B MIR200B GABRD SSU72 NOC2L NADK LOC107985728 OR4F29 MIR6727 MIR6723 LOC102725121 LOC107985729 TMEM240 LOC100287934 ATAD3A FAM132A GNB1 ACAP3 MTND2P28 PUSL1 LINC01128 CPTP TMEM52 WASH7P CALML6 LOC105378948 LOC105378592 FAM41C MIR200A LOC105378947 ISG15 LOC100506504 PERM1 LOC100288175 SAMD11 LOC284600 B3GALT6 TNFRSF18 LOC100129534 PRKCZ MIR1302-2 MIR429 LOC101928626 C1orf159 MIR6808 HES4 MIB2 LOC100133331
esv2661270	Chr.1:1625365 - 1636030 on Build GRCh38	Deletion	MMP23B CDK11B MIB2
nsv950452	Chr.1:1106921 - 1637538 on Build GRCh38	Deletion	AURKAIP1 TAS1R3 MRPL20 CCNL2 MIR6727 MIR200A SCNN1D CDK11B TTLL10 MXRA8 LOC107985729 SDF4 TMEM88B TMEM240 TNFRSF4 LINC01342 ANKRD65 ATAD3A LOC102724312 FAM132A MIR6726 ACAP3 PUSL1 TTLL10-AS1 B3GALT6 TNFRSF18 FNDC10 ATAD3C UBE2J2 CPTP MIR429 C1orf159 VWA1 MIR6808 CPSF3L LOC148413 MMP23B MIR200B SSU72 DVL1 MIB2 ATAD3B
esv2760410	Chr.1:1565561 - 1756248 on Build GRCh38	Gain+Loss	NADK MMP23B MMP23A CDK11B FNDC10 SSU72 CDK11A SLC35E2B MIB2 SLC35E2
esv2659399	Chr.1:1629265 - 1633013 on Build GRCh38	Deletion	MMP23B MIB2
nsv545017	Chr.1:1615322 - 1663759 on Build GRCh38	Loss	MMP23B CDK11B SLC35E2B MIB2
esv2758913	Chr.1:1389149 - 2092899 on Build GRCh38	Gain+Loss	NADK MRPL20 CCNL2 CDK11B LOC107985729 CDK11A TMEM88B TMEM240 ANKRD65 ATAD3A LOC102724312 GNB1 SLC35E2 CFAP74 PRKCZ LOC105378949 MMP23A FNDC10 LOC105378591 ATAD3C SLC35E2B TMEM52 VWA1 LOC148413 MMP23B CALML6 GABRD SSU72 MIB2 ATAD3B LOC105378589

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

reproduction
proteolysis

Function(s)

metalloendopeptidase activity
metallopeptidase activity
zinc ion binding