Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6748
Gene name Gene Name - the full gene name approved by the HGNC.	Signal sequence receptor subunit 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SSR4
Synonyms (NCBI Gene) Gene synonyms aliases	CDG1Y, TRAPD
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CDG1Y
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-

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SNP ID	Visualize variation	Clinical significance	Consequence
rs606231298	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs794729223	AG>-	Pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1057518735	G>A	Pathogenic	Splice donor variant
rs1057518736	G>A	Pathogenic	Splice acceptor variant
rs1557072752	TAGACTCAGGAAATCACTCAGCCCTTTTGATCATCCCGCCCCTGCTCACAGTCAACAGGGTTCCTATGCGTCCAGTTAGGCCCGGCCATGGGGATCTGGCCTTGTGCCCCCGTAGGGAAGACCAATGCAGAGGGCCAGTCACGGGATTGGTGAGTGTTACTTGGTACCTCCTGCCAGGGACACTGCAGCCCCCAACTGGGCCTAGCCTGCCCACCTGCAGGCCGTGTGAGCAGCGCACAGGGCTCCTCTGCCCAC	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, initiator codon variant, coding sequence variant, 5 prime UTR variant, splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT043411	hsa-miR-331-3p	CLASH	23622248
MIRT1392762	hsa-miR-1207-5p	CLIP-seq
MIRT1392763	hsa-miR-1252	CLIP-seq
MIRT1392764	hsa-miR-342-5p	CLIP-seq
MIRT1392765	hsa-miR-4436b-3p	CLIP-seq
MIRT1392766	hsa-miR-4446-3p	CLIP-seq
MIRT1392767	hsa-miR-4492	CLIP-seq
MIRT1392768	hsa-miR-4498	CLIP-seq
MIRT1392769	hsa-miR-4505	CLIP-seq
MIRT1392770	hsa-miR-4651	CLIP-seq
MIRT1392771	hsa-miR-4664-5p	CLIP-seq
MIRT1392772	hsa-miR-4731-5p	CLIP-seq
MIRT1392773	hsa-miR-4763-3p	CLIP-seq
MIRT1392774	hsa-miR-608	CLIP-seq
MIRT1392775	hsa-miR-762	CLIP-seq
MIRT1392763	hsa-miR-1252	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005784	Component	Sec61 translocon complex	NAS	7492314, 9286695
GO:0012505	Component	Endomembrane system	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
300090	11326	ENSG00000180879

Protein

UniProt ID

P51571

Protein name

Translocon-associated protein subunit delta (TRAP-delta) (Signal sequence receptor subunit delta) (SSR-delta)

Protein function

TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.

PDB

8B6L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05404	TRAP-delta	11 → 172	Translocon-associated protein, delta subunit precursor (TRAP-delta)	Family

Sequence

MAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEISLTCKNR
VQNMALYADVGGKQFPVTRGQDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQR
NNEDISIIPPLFTVSVDHRGTWNGPWVSTEVLAAAIGLVIYYLAFSAKSHIQA

Sequence length

173

Interactions

View interactions

	KEGG
	Protein processing in endoplasmic reticulum

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital disorder of glycosylation	Congenital disorder of glycosylation type 1y, SSR4-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)	24218363, 26264460
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	35571564
Alzheimer Disease	Associate	35766008
Congenital Disorders of Glycosylation	Associate	24218363, 26264460
Esophageal Squamous Cell Carcinoma	Associate	39840762
Periodontitis	Associate	29921943

SSR4 (signal sequence receptor subunit 4)