EFCAB7 (EF-hand calcium binding domain 7)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 84455
• Gene name: EF-hand calcium binding domain 7
• Gene symbol: EFCAB7
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p31.3

miRNA Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT953644	hsa-miR-142-5p	CLIP-seq
MIRT953645	hsa-miR-548a-5p	CLIP-seq
MIRT953646	hsa-miR-548ab	CLIP-seq
MIRT953647	hsa-miR-548ak	CLIP-seq
MIRT953648	hsa-miR-548b-5p	CLIP-seq
MIRT953649	hsa-miR-548c-5p	CLIP-seq
MIRT953650	hsa-miR-548d-5p	CLIP-seq
MIRT953651	hsa-miR-548h	CLIP-seq
MIRT953652	hsa-miR-548i	CLIP-seq
MIRT953653	hsa-miR-548j	CLIP-seq
MIRT953654	hsa-miR-548k	CLIP-seq
MIRT953655	hsa-miR-548l	CLIP-seq
MIRT953656	hsa-miR-548w	CLIP-seq
MIRT953657	hsa-miR-548y	CLIP-seq
MIRT953658	hsa-miR-559	CLIP-seq

Gene ontology (GO) Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0016020	Component	Membrane	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0060170	Component	Ciliary membrane	IBA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0098797	Component	Plasma membrane protein complex	IBA
GO:0098797	Component	Plasma membrane protein complex	IEA
GO:0098797	Component	Plasma membrane protein complex	ISS
GO:0120229	Process	Protein localization to motile cilium	IEA
GO:1903569	Process	Positive regulation of protein localization to ciliary membrane	IBA
GO:1903569	Process	Positive regulation of protein localization to ciliary membrane	IEA
GO:1903569	Process	Positive regulation of protein localization to ciliary membrane	ISS

Other IDs

• MIM: 617632
• HGNC: 29379
• e!Ensembl: ENSG00000203965

Protein

• UniProt ID: A8K855
• Protein name: EF-hand calcium-binding domain-containing protein 7
• Protein function: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia.
• Sequence:

  MAISPRSDATFSSQKSTPSESPRTKKFPLTEEEIFYMNCRAAYLTVFKSSLENIISKDQL
  YLALQHAGRNPSQKTINKYWTPQTAKLNFDDFCIILRKEKPTSKAELLKSFKQLDVNDDG
  CILHTDLYKFLTKRGEKMTREEVNAIINLADVNADGKFDYIKFCKLYMTTNEQCLKTTLE
  KLEVDSKLMRHQFGNHIEGSPERDPSPVPKPSPKITRKTDPETFLNKGDTRSSLLSATRK
  FKTSVSFTVTMGANGNRNSKLMEPNLIKDWQHMQSKGCFFLEEDGEIISHQYRMQIAQRS
  MVYLTIKPLNLSQVEGKPSPWLSVDTALYILKENESQANLQLVCFTELRNREVFGWTGEL
  GPGIYWLIPSTTGCRLRKKIKPVTDEAQLVYRDETGELFLTKEFKSTLSDIFEVIDLDGN
  GLLSLEEYNFFELRTSGEKCDEDAWAVCRENFDTKRNELTRQGFMDLNLMEANDREGDPC
  DLWVTLHSMGYNKALELTEACPFVIDIYAEKCKPKIKAVHMEACSGQLEKAICKSVLSNG
  DAKVMDGYENIIVHTYSCDTWITSVIENKSDEKVIIHISNELSKNCINNRGLNIFAVEVG
  PKSTMVCQHVMPLNERQEWIYYCIYSLIS

• Sequence length: 629

Pathways

KEGG Pathway:

Hedgehog signaling pathway

Reactome Pathway:

Activation of SMO

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postaxial polydactyly	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	BEFREE	26748586		★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	37684519	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

IQCE 1 shared diseasePolydactyly 2 shared pathwaysHedgehog signaling pathway, Activation of SMO 1 shared evidence sourceDisgenet (Polydactyly) Related via 2 shared pathways including Hedgehog signaling pathway, Activation of SMO — evidence mostly Disgenet. EVC2 2 shared pathwaysHedgehog signaling pathway, Activation of SMO Related via 2 shared pathways including Hedgehog signaling pathway, Activation of SMO. EVC 2 shared pathwaysHedgehog signaling pathway, Activation of SMO Related via 2 shared pathways including Hedgehog signaling pathway, Activation of SMO. GAS1 2 shared pathwaysHedgehog signaling pathway, Activation of SMO Related via 2 shared pathways including Hedgehog signaling pathway, Activation of SMO. CDON 2 shared pathwaysHedgehog signaling pathway, Activation of SMO Related via 2 shared pathways including Hedgehog signaling pathway, Activation of SMO.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
IQCE	1	["Polydactyly"]	2	["Hedgehog signaling pathway","Activation of SMO"]	1	["Disgenet (Polydactyly)"]
EVC2	0	[]	2	["Hedgehog signaling pathway","Activation of SMO"]	0	[]
EVC	0	[]	2	["Hedgehog signaling pathway","Activation of SMO"]	0	[]
GAS1	0	[]	2	["Hedgehog signaling pathway","Activation of SMO"]	0	[]
CDON	0	[]	2	["Hedgehog signaling pathway","Activation of SMO"]	0	[]

Diseases Linked via Similar Genes

Acrofacial dysostosis Linked via 2 of 5 related genesEVC2, EVC Curry-hall syndrome Linked via 2 of 5 related genesEVC2, EVC Desbuquois syndrome Linked via 2 of 5 related genesEVC2, EVC Ellis-van creveld syndrome Linked via 2 of 5 related genesEVC2, EVC Majewski syndrome Linked via 2 of 5 related genesEVC2, EVC

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Acrofacial dysostosis	2	["EVC2","EVC"]
Curry-hall syndrome	2	["EVC2","EVC"]
Desbuquois syndrome	2	["EVC2","EVC"]
Ellis-van creveld syndrome	2	["EVC2","EVC"]
Majewski syndrome	2	["EVC2","EVC"]