Hs02996577_cn

• Gene Symbol: ALKBH4
• Assay Reference Genome Location: Chr.7:102456735 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 54784
• Gene Name: alkB homolog 4, lysine demethylase
• Gene Aliases: ABH4
• Location: Chr.7:102456220-102464874 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALKBH4	NM_017621.3	3	1606	NP_060091.1
	XM_005250464.2	3	1499	XP_005250521.1
	XM_005250465.2	3	1585	XP_005250522.1
	AK222689.1	3	1595	BAD96409.1
	BC017096.1	3	1573	AAH17096.1
	CA420615.1	1	533

Target Gene Details

• Entrez Gene ID: 80228
• Gene Name: ORAI calcium release-activated calcium modulator 2
• Gene Aliases: C7orf19, CBCIP2, MEM142B, TMEM142B
• Location: Chr.7:102433530-102456821 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ORAI2	NM_001126340.2	4	10702	NP_001119812.1
	NM_001271818.1	4	10725	NP_001258747.1
	NM_001271819.1	3	10464	NP_001258748.1
	NM_032831.3	3	10593	NP_116220.1
	AK128753.1	1	5127

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831083	Chr.7:102340560 - 102655422 on Build GRCh38	Loss	PRKRIP1 MIR4467 POLR2J SPDYE2B RASA4B UPK3BL ALKBH4 POLR2J2 LOC107983993 SPDYE2 LRWD1 LOC102724229 MIR548O MIR5090 LOC100289561 POLR2J3 LOC100630923 SPDYE6 ORAI2 RASA4
nsv824248	Chr.7:102456578 - 102457204 on Build GRCh38	Gain	ORAI2 ALKBH4
nsv8192	Chr.7:102450605 - 102692752 on Build GRCh38	Gain	MIR4467 POLR2J SPDYE2B RASA4B UPK3BL ALKBH4 POLR2J2 LOC107983993 SPDYE2 LRWD1 LOC102724229 MIR5090 POLR2J3 ORAI2 RASA4
nsv428182	Chr.7:102257460 - 102735503 on Build GRCh38	Gain	PRKRIP1 MIR4467 POLR2J SPDYE2B RASA4B UPK3BL ALKBH4 POLR2J2 LOC107983993 SPDYE2 LRWD1 LOC102724229 MIR4285 FBXL13 MIR548O MIR5090 SH2B2 LOC100289561 POLR2J3 LOC100630923 SPDYE6 ORAI2 RASA4 CUX1
dgv6538n100	Chr.7:102171110 - 103063688 on Build GRCh38	Gain	MIR4467 UPK3BL POLR2J2 LOC107983993 SPDYE2 LRWD1 FAM185A MIR4285 FBXL13 MIR5090 SH2B2 LOC100289561 ORAI2 PRKRIP1 POLR2J SPDYE2B RASA4B ALKBH4 LOC102724229 MIR548O POLR2J3 LOC100630923 SPDYE6 RASA4 NFE4 LRRC17 CUX1
nsv607998	Chr.7:102385213 - 102473462 on Build GRCh38	Gain+Loss	PRKRIP1 MIR548O MIR5090 MIR4467 POLR2J LOC100630923 ORAI2 ALKBH4 LRWD1
nsv5879	Chr.7:102450321 - 102747356 on Build GRCh38	Deletion	MIR4467 POLR2J SPDYE2B RASA4B UPK3BL ALKBH4 POLR2J2 LOC107983993 SPDYE2 LRWD1 LOC102724229 FBXL13 MIR5090 POLR2J3 ORAI2 RASA4
nsv607999	Chr.7:102451288 - 102473452 on Build GRCh38	Loss	MIR5090 MIR4467 POLR2J ORAI2 ALKBH4 LRWD1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, oxygenase, metabolite interconversion enzyme, ion channel, transporter

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
protein demethylation
actomyosin structure organization
cleavage furrow ingression
oxidation-reduction process
store-operated calcium entry
calcium ion transmembrane transport

Function(s)

actin binding
protein binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
demethylase activity
metal ion binding
store-operated calcium channel activity