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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51324
Gene name	SPG21 abhydrolase domain containing, maspardin
Gene symbol	SPG21
Synonyms (NCBI Gene)	ABHD21ACP33BM-019GL010MAST
Chromosome	15
Chromosome location	15q22.31
Summary	The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs369957508	G>A	Pathogenic	Coding sequence variant, stop gained
rs387906275	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587777315	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1332886505	->C	Pathogenic	Frameshift variant, coding sequence variant

159

Show/Hide all (159)

miRTarBase ID	miRNA	Experiments
MIRT1383801	hsa-miR-1270	CLIP-seq
MIRT1383802	hsa-miR-1284	CLIP-seq
MIRT1383803	hsa-miR-1910	CLIP-seq
MIRT1383804	hsa-miR-300	CLIP-seq
MIRT1383805	hsa-miR-329	CLIP-seq
MIRT1383806	hsa-miR-362-3p	CLIP-seq
MIRT1383807	hsa-miR-3671	CLIP-seq
MIRT1383808	hsa-miR-3681	CLIP-seq
MIRT1383809	hsa-miR-381	CLIP-seq
MIRT1383810	hsa-miR-3941	CLIP-seq
MIRT1383811	hsa-miR-4438	CLIP-seq
MIRT1383812	hsa-miR-4460	CLIP-seq
MIRT1383813	hsa-miR-455-3p	CLIP-seq
MIRT1383814	hsa-miR-4632	CLIP-seq
MIRT1383815	hsa-miR-466	CLIP-seq
MIRT1383816	hsa-miR-4666-3p	CLIP-seq
MIRT1383817	hsa-miR-4672	CLIP-seq
MIRT1383818	hsa-miR-4683	CLIP-seq
MIRT1383819	hsa-miR-4699-5p	CLIP-seq
MIRT1383820	hsa-miR-4708-5p	CLIP-seq
MIRT1383821	hsa-miR-4727-3p	CLIP-seq
MIRT1383822	hsa-miR-548aa	CLIP-seq
MIRT1383823	hsa-miR-583	CLIP-seq
MIRT1383824	hsa-miR-591	CLIP-seq
MIRT1383825	hsa-miR-607	CLIP-seq
MIRT1383826	hsa-miR-620	CLIP-seq
MIRT1383827	hsa-miR-935	CLIP-seq
MIRT1383801	hsa-miR-1270	CLIP-seq
MIRT1383828	hsa-miR-183	CLIP-seq
MIRT1383829	hsa-miR-3187-3p	CLIP-seq
MIRT1383830	hsa-miR-3677-5p	CLIP-seq
MIRT1383808	hsa-miR-3681	CLIP-seq
MIRT1383810	hsa-miR-3941	CLIP-seq
MIRT1383811	hsa-miR-4438	CLIP-seq
MIRT1383812	hsa-miR-4460	CLIP-seq
MIRT1383831	hsa-miR-4529-5p	CLIP-seq
MIRT1383814	hsa-miR-4632	CLIP-seq
MIRT1383815	hsa-miR-466	CLIP-seq
MIRT1383817	hsa-miR-4672	CLIP-seq
MIRT1383818	hsa-miR-4683	CLIP-seq
MIRT1383820	hsa-miR-4708-5p	CLIP-seq
MIRT1383821	hsa-miR-4727-3p	CLIP-seq
MIRT1383823	hsa-miR-583	CLIP-seq
MIRT1383826	hsa-miR-620	CLIP-seq
MIRT1383827	hsa-miR-935	CLIP-seq
MIRT1383832	hsa-miR-103a	CLIP-seq
MIRT1383833	hsa-miR-107	CLIP-seq
MIRT1383834	hsa-miR-1286	CLIP-seq
MIRT1383835	hsa-miR-1323	CLIP-seq
MIRT1383828	hsa-miR-183	CLIP-seq
MIRT1383836	hsa-miR-190	CLIP-seq
MIRT1383837	hsa-miR-190b	CLIP-seq
MIRT1383838	hsa-miR-2116	CLIP-seq
MIRT1383839	hsa-miR-2681	CLIP-seq
MIRT1383840	hsa-miR-3120-3p	CLIP-seq
MIRT1383841	hsa-miR-3130-3p	CLIP-seq
MIRT1383842	hsa-miR-3148	CLIP-seq
MIRT1383843	hsa-miR-3177-3p	CLIP-seq
MIRT1383829	hsa-miR-3187-3p	CLIP-seq
MIRT1383844	hsa-miR-3662	CLIP-seq
MIRT1383807	hsa-miR-3671	CLIP-seq
MIRT1383845	hsa-miR-3682-5p	CLIP-seq
MIRT1383846	hsa-miR-3688-3p	CLIP-seq
MIRT1383847	hsa-miR-3944-5p	CLIP-seq
MIRT1383848	hsa-miR-4294	CLIP-seq
MIRT1383849	hsa-miR-4310	CLIP-seq
MIRT1383831	hsa-miR-4529-5p	CLIP-seq
MIRT1383850	hsa-miR-4714-5p	CLIP-seq
MIRT1383851	hsa-miR-4722-5p	CLIP-seq
MIRT1383852	hsa-miR-4764-5p	CLIP-seq
MIRT1383853	hsa-miR-4768-3p	CLIP-seq
MIRT1383854	hsa-miR-4778-3p	CLIP-seq
MIRT1383855	hsa-miR-4782-5p	CLIP-seq
MIRT1383856	hsa-miR-4793-3p	CLIP-seq
MIRT1383857	hsa-miR-545	CLIP-seq
MIRT1383858	hsa-miR-548k	CLIP-seq
MIRT1383859	hsa-miR-548n	CLIP-seq
MIRT1383860	hsa-miR-548o	CLIP-seq
MIRT1383861	hsa-miR-548p	CLIP-seq
MIRT1383862	hsa-miR-595	CLIP-seq
MIRT1383825	hsa-miR-607	CLIP-seq
MIRT1383863	hsa-miR-924	CLIP-seq
MIRT1920926	hsa-miR-2277-3p	CLIP-seq
MIRT1920926	hsa-miR-2277-3p	CLIP-seq
MIRT1920926	hsa-miR-2277-3p	CLIP-seq
MIRT1383832	hsa-miR-103a	CLIP-seq
MIRT1383833	hsa-miR-107	CLIP-seq
MIRT2114889	hsa-miR-1252	CLIP-seq
MIRT2114890	hsa-miR-128	CLIP-seq
MIRT2114891	hsa-miR-146a	CLIP-seq
MIRT2114892	hsa-miR-146b-5p	CLIP-seq
MIRT1383840	hsa-miR-3120-3p	CLIP-seq
MIRT1383844	hsa-miR-3662	CLIP-seq
MIRT1383810	hsa-miR-3941	CLIP-seq
MIRT1383847	hsa-miR-3944-5p	CLIP-seq
MIRT2114893	hsa-miR-4293	CLIP-seq
MIRT1383849	hsa-miR-4310	CLIP-seq
MIRT1383815	hsa-miR-466	CLIP-seq
MIRT1383817	hsa-miR-4672	CLIP-seq
MIRT1383852	hsa-miR-4764-5p	CLIP-seq
MIRT1383855	hsa-miR-4782-5p	CLIP-seq
MIRT2114894	hsa-miR-4792	CLIP-seq
MIRT2114895	hsa-miR-4803	CLIP-seq
MIRT1383857	hsa-miR-545	CLIP-seq
MIRT2114896	hsa-miR-589	CLIP-seq
MIRT2114897	hsa-miR-889	CLIP-seq
MIRT2114890	hsa-miR-128	CLIP-seq
MIRT2114897	hsa-miR-889	CLIP-seq
MIRT2114890	hsa-miR-128	CLIP-seq
MIRT1383832	hsa-miR-103a	CLIP-seq
MIRT1383833	hsa-miR-107	CLIP-seq
MIRT1383836	hsa-miR-190	CLIP-seq
MIRT1383837	hsa-miR-190b	CLIP-seq
MIRT1383839	hsa-miR-2681	CLIP-seq
MIRT1383840	hsa-miR-3120-3p	CLIP-seq
MIRT1383842	hsa-miR-3148	CLIP-seq
MIRT2631179	hsa-miR-3163	CLIP-seq
MIRT1383846	hsa-miR-3688-3p	CLIP-seq
MIRT1383847	hsa-miR-3944-5p	CLIP-seq
MIRT1383849	hsa-miR-4310	CLIP-seq
MIRT2631180	hsa-miR-4422	CLIP-seq
MIRT1383850	hsa-miR-4714-5p	CLIP-seq
MIRT1383852	hsa-miR-4764-5p	CLIP-seq
MIRT1383855	hsa-miR-4782-5p	CLIP-seq
MIRT2114895	hsa-miR-4803	CLIP-seq
MIRT1383857	hsa-miR-545	CLIP-seq
MIRT1383832	hsa-miR-103a	CLIP-seq
MIRT1383833	hsa-miR-107	CLIP-seq
MIRT2114890	hsa-miR-128	CLIP-seq
MIRT1383834	hsa-miR-1286	CLIP-seq
MIRT1383835	hsa-miR-1323	CLIP-seq
MIRT2691873	hsa-miR-141	CLIP-seq
MIRT1383828	hsa-miR-183	CLIP-seq
MIRT1383836	hsa-miR-190	CLIP-seq
MIRT1383837	hsa-miR-190b	CLIP-seq
MIRT2691874	hsa-miR-200a	CLIP-seq
MIRT1920926	hsa-miR-2277-3p	CLIP-seq
MIRT1383839	hsa-miR-2681	CLIP-seq
MIRT1383840	hsa-miR-3120-3p	CLIP-seq
MIRT1383842	hsa-miR-3148	CLIP-seq
MIRT2631179	hsa-miR-3163	CLIP-seq
MIRT1383829	hsa-miR-3187-3p	CLIP-seq
MIRT1383830	hsa-miR-3677-5p	CLIP-seq
MIRT1383846	hsa-miR-3688-3p	CLIP-seq
MIRT2691875	hsa-miR-371b-5p	CLIP-seq
MIRT1383847	hsa-miR-3944-5p	CLIP-seq
MIRT1383849	hsa-miR-4310	CLIP-seq
MIRT2631180	hsa-miR-4422	CLIP-seq
MIRT1383831	hsa-miR-4529-5p	CLIP-seq
MIRT1383850	hsa-miR-4714-5p	CLIP-seq
MIRT1383851	hsa-miR-4722-5p	CLIP-seq
MIRT1383852	hsa-miR-4764-5p	CLIP-seq
MIRT1383853	hsa-miR-4768-3p	CLIP-seq
MIRT1383855	hsa-miR-4782-5p	CLIP-seq
MIRT2114895	hsa-miR-4803	CLIP-seq
MIRT1383857	hsa-miR-545	CLIP-seq
MIRT1383860	hsa-miR-548o	CLIP-seq
MIRT1383862	hsa-miR-595	CLIP-seq
MIRT2691876	hsa-miR-888	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 22458338, 25416956, 25910212, 28514442, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	11113139
GO:0005829	Component	Cytosol	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0030140	Component	Trans-Golgi network transport vesicle	IBA
GO:0030140	Component	Trans-Golgi network transport vesicle	IDA	11113139
GO:0042551	Process	Neuron maturation	IEA
GO:0042609	Function	CD4 receptor binding	IBA
GO:0042609	Function	CD4 receptor binding	IPI	11113139
GO:0048668	Process	Collateral sprouting	IEA
GO:0050851	Process	Antigen receptor-mediated signaling pathway	IC	11113139
GO:0050905	Process	Neuromuscular process	IEA
GO:0060173	Process	Limb development	IEA
GO:0070849	Process	Response to epidermal growth factor	IEA

MIM	HGNC	e!Ensembl
608181	20373	ENSG00000090487

Q9NZD8

Protein name

Maspardin (Acid cluster protein 33) (Spastic paraplegia 21 autosomal recessive Mast syndrome protein) (Spastic paraplegia 21 protein)

Protein function

May play a role as a negative regulatory factor in CD4-dependent T-cell activation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00561	Abhydrolase_1	39 → 171	alpha/beta hydrolase fold	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in J.CaM1.6, HuT 78 and HeLa cell lines (at protein level). {ECO:0000269|PubMed:11113139}.

Sequence

MGEIKVSPDYNWFRGTVPLKKIIVDDDDSKIWSLYDAGPRSIRCPLIFLPPVSGTADVFF
RQILALTGWGYRVIALQYPVYWDHLEFCDGFRKLLDHLQLDKVHLFGASLGGFLAQKFAE
YTHKSPRVHSLILCNSFSDTSIFNQTWTANSFWLMPAFMLKKIVLGNFSSGPVDPMMADA
IDFMVDRLESLGQSELASRLTLNCQNSYVEPHKIRDIPVTIMDVFDQSALSTEAKEEMYK
LYPNARRAHLKTGGNFPYLCRSAEVNLYVQIHLLQFHGTKYAAIDPSMVSAEELEVQKGS
LGISQEEQ

Sequence length

308

Interactions

View interactions

	KEGG
	Endocytosis

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs755390093	RCV005912446	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs555126484, rs2140415380, rs387906275, rs755390093	RCV005408987 RCV001848220 RCV003987309 RCV001847135	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mast syndrome	Likely pathogenic; Pathogenic	rs555126484, rs2140441397, rs970163893, rs587777315, rs387906275, rs1386151123, rs2506123909, rs2506123834, rs369957508, rs1332886505, rs755390093, rs2140427422	RCV001703293 RCV001783794 RCV001787255 RCV000114945 RCV000002596 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPG21-related disorder	Likely pathogenic	rs755390093	RCV004757363	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	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.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 50	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31827587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 21	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	24140425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15218997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	14564668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	14564668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	14564668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29558030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31827587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24140425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30363524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31293057		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAST SYNDROME	MAST SYNDROME	BEFREE	14564668, 16138254, 19184135, 22729480		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAST SYNDROME	MAST SYNDROME	GENOMICS_ENGLAND_DG	24451228, 28752238		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAST SYNDROME	MAST SYNDROME	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAST SYNDROME	MAST SYNDROME	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAST SYNDROME	MAST SYNDROME	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paraplegia	Paraplegia	LHGDN	14564668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	14564668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	14564668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30363524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	14564668, 26556829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	14564668, 22554690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	36609218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36609218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SPG21 (SPG21 abhydrolase domain containing, maspardin)