Hs03821522_cn

• Gene Symbol: ERC1
• Assay Reference Genome Location: Chr.12:1025213 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 23085
• Gene Name: ELKS/RAB6-interacting/CAST family member 1
• Gene Aliases: Cast2, ELKS, ERC-1, RAB6IP2
• Location: Chr.12:990010-1495933 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERC1	NM_178039.3			NP_829883.1
	NM_178040.3			NP_829884.1
	NR_027946.2
	NR_027948.2
	NR_027949.2
	XM_011520941.2			XP_011519243.1
	XM_017019052.1			XP_016874541.1
	XM_017019053.1			XP_016874542.1
	XM_017019054.1			XP_016874543.1
	XM_017019055.1			XP_016874544.1
	XM_017019056.1			XP_016874545.1
	XM_017019057.1			XP_016874546.1
	XM_017019058.1			XP_016874547.1
	XM_017019059.1			XP_016874548.1
	XM_017019060.1			XP_016874549.1
	XM_017019061.1			XP_016874550.1
	XM_017019062.1			XP_016874551.1
	XM_017019063.1			XP_016874552.1
	XM_017019064.1			XP_016874553.1
	XM_017019065.1			XP_016874554.1
	XM_017019066.1			XP_016874555.1
	XM_017019067.1			XP_016874556.1
	XM_017019068.1			XP_016874557.1
	XM_017019069.1			XP_016874558.1
	XM_017019070.1			XP_016874559.1
	XM_017019071.1			XP_016874560.1
	XM_017019072.1			XP_016874561.1
	XM_017019073.1			XP_016874562.1
	AB015617.1			BAA88763.1
	AB053468.1			BAC54107.1
	AB053469.1			BAC54108.1
	AB053470.1			BAC54109.1
	AB053471.1			BAC54110.1
	AK091577.1
	DR000847.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv2251n54	Chr.12:553282 - 1101718 on Build GRCh38	Gain	ERC1 B4GALNT3 WNK1 NINJ2 LOC105369595 RAD52 LOC100049716
nsv556943	Chr.12:997617 - 1111522 on Build GRCh38	Loss	ERC1
esv32742	Chr.12:1025186 - 1026422 on Build GRCh38	Loss	ERC1

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
I-kappaB phosphorylation
multicellular organism development
protein transport
retrograde transport, endosome to Golgi
positive regulation of NF-kappaB transcription factor activity
cell-cell adhesion

Function(s)

protein binding
Rab GTPase binding
PDZ domain binding
leucine zipper domain binding
cadherin binding involved in cell-cell adhesion