Hs06281203_cn

• Gene Symbol: IGHMBP2
• Assay Reference Genome Location: Chr.11:68929707 on build GRCh38
• Cytoband: 11q13.3

Target Gene Details

• Entrez Gene ID: 3508
• Gene Name: immunoglobulin mu binding protein 2
• Gene Aliases: CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7
• Location: Chr.11:68903851-68940602 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IGHMBP2	NM_002180.2			NP_002171.2
	XM_005273974.2			XP_005274031.1
	XM_005273976.1			XP_005274033.1
	XM_017017669.1			XP_016873158.1
	XM_017017670.1			XP_016873159.1
	XM_017017671.1			XP_016873160.1
	AK312565.1
	BC000290.2			AAH00290.1
	BC025299.1
	BC105088.1			AAI05089.1
	BC105090.1			AAI05091.1
	L14754.1			AAA53082.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509423	Chr.11:68873995 - 68970585 on Build GRCh38	Insertion	IGHMBP2 MRPL21
esv2744668	Chr.11:68929707 - 68930087 on Build GRCh38	Deletion	IGHMBP2
nsv428261	Chr.11:68754616 - 68937835 on Build GRCh38	Gain	IGHMBP2 CPT1A MRPL21
esv3579736	Chr.11:68929224 - 68943379 on Build GRCh38	Loss	IGHMBP2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

DNA replication
DNA repair
DNA recombination
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
translation
DNA duplex unwinding
protein homooligomerization

Function(s)

tRNA binding
DNA binding
DNA helicase activity
single-stranded DNA binding
RNA binding
protein binding
ATP binding
DNA-dependent ATPase activity
transcription factor binding
RNA-dependent ATPase activity
zinc ion binding
ATP-dependent 5'-3' RNA helicase activity
ribosome binding
ATP-dependent 5'-3' DNA helicase activity