Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	79825
Gene name	EF-hand and coiled-coil domain containing 1
Gene symbol	EFCC1
Synonyms (NCBI Gene)	C3orf73CCDC48
Chromosome	3
Chromosome location	3q21.3

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q9HA90

Protein name

EF-hand and coiled-coil domain-containing protein 1 (Coiled-coil domain-containing protein 48)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15799	CCD48	18 → 598	Coiled-coil domain-containing protein 48	Family

Sequence

MEPVSTGAEAGMEGAGGDPYRRPARRTQWLLSALAHHYGLDRGVENEIVVLATGLDQYLQ
EVFHHLDCRGAGRLPRADFRALCAVLGLRAEGATTAGQAAGDGNSRDVTPGDAAAELATD
GDSDTDEEARLALRAEPPELTFRQFHARLCGYFGTRAGPRLPRGALSEHIETQIRLRRPR
RRRRPPCAPGPDSGPDCERVARLEEENSSLRELVEDLRAALQSSDARCLALQVGLWKSQA
STHEMGHGGPEAAVRELRQAQGALAAAEARAGRLRRGQAEVRRRAEEARQVVLRSLHRVR
ELEALAQQVPGLQRWVRRLEAELQRYRSEDSQLPTPQLANPEPGDKSNEPEDAGTRDPDP
TPEGAWQSDSSSGSRALDEVDEQLFRSVEGQAASDEEEVEEERWQEEKKTPAAEAKTLLA
RLSSCRGRCDDQTAEKLMTYFGHFGGANHAHTLGELEACIAMLVEQLRTQGCGGRTLGTS
EEEAELQQKVEENEHLRLELQMVETERVRLSLLEEKLVDVLQLLQRLRDLNISKRALGKI
LLSTLDAFRDPTHEGRPSPAAILDALHQALAACQLLRRQPSAPASAAAALTNPLLVSC

Sequence length

598

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Colon adenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes Genes most often co-reported with EFCC1 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for EFCC1.

Diseases Linked via Similar Genes Diseases curated for genes most similar to EFCC1 (see Related Genes above), that are NOT already directly curated for EFCC1 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to EFCC1.

EFCC1 (EF-hand and coiled-coil domain containing 1)

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