• Gene id: 26059

Gene Summary

• Gene Symbol: ERC2   Gene   UCSC   Ensembl
• Aliases: CAST, CAST1, ELKSL, SPBC110, Spc110
• Gene name: ELKS/RAB6-interacting/CAST family member 2
• Alternate names: ERC protein 2, CAZ-associated structural protein, cytomatrix protein p110,
• Gene location: 3p14.3 (56468472: 55508310)     Exons: 23     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alt
• OMIM: 607985

Protein Summary

• Protein general information: O15083  
  • Name: ERC protein 2
  • Length: 957  
  • Mass: 110558
• Sequence:

  MYGSARTITNLEGSPSRSPRLPRSPRLGHRRTSSGGGGGTGKTLSMENIQSLNAAYATSGPMYLSDHEGVASTTY
  PKGTMTLGRATNRAVYGGRVTAMGSSPNIASAGLSHTDVLSYTDQHGGLTGSSHHHHHQVPSMLRQVRDSTMLDL
  QAQLKELQRENDLLRKELDIKDSKLGSSMNSIKTFWSPELKKERVLRKEEAARMSVLKEQMRVSHEENQHLQLTI
  QALQDELRTQRDLNHLLQQESGNRGAEHFTIELTEENFRRLQAEHDRQAKELFLLRKTLEEMELRIETQKQTLNA
  RDESIKKLLEMLQSKGLPSKSLEDDNERTRRMAEAESQVSHLEVILDQKEKENIHLREELHRRSQLQPEPAKTKA
  LQTVIEMKDTKIASLERNIRDLEDEIQMLKANGVLNTEDREEEIKQIEVYKSHSKFMKTKIDQLKQELSKKESEL
  LALQTKLETLSNQNSDCKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKESFLNKKTKQLQDLTEEKGTLAG
  EIRDMKDMLEVKERKINVLQKKIENLQEQLRDKDKQLTNLKDRVKSLQTDSSNTDTALATLEEALSEKERIIERL
  KEQRERDDRERLEEIESFRKENKDLKEKVNALQAELTEKESSLIDLKEHASSLASAGLKRDSKLKSLEIAIEQKK
  EECSKLEAQLKKAHNIEDDSRMNPEFADQIKQLDKEASYYRDECGKAQAEVDRLLEILKEVENEKNDKDKKIAEL
  ESLTLRHMKDQNKKVANLKHNQQLEKKKNAQLLEEVRRREDSMADNSQHLQIEELMNALEKTRQELDATKARLAS
  TQQSLAEKEAHLANLRIERRKQLEEILEMKQEALLAAISEKDANIALLELSASKKKKTQEEVMALKREKDRLVHQ
  LKQQTQNRMKLMADNYDDDHHHYHHHHHHHHHRSPGRSQHSNHRPSPDQDDEEGIWA

• Structural information:
  • Interpro: IPR019323  IPR030625  
  • STRING: ENSP00000288221
• Other Databases: GeneCards:  ERC2  Malacards:  ERC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098882	structural constituent of presynaptic active zone	IEA	molecular function
GO:0098831	presynaptic active zone cytoplasmic component	IEA	cellular component
GO:0016082	synaptic vesicle priming	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0048790	maintenance of presynaptic active zone structure	IEA	biological process
GO:0030426	growth cone	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq