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.	8482
Gene name Gene Name - the full gene name approved by the HGNC.	Semaphorin 7A (JohnMiltonHagen blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SEMA7A
Synonyms (NCBI Gene) Gene synonyms aliases	CD108, CDw108, H-SEMA-K1, H-Sema-L, JMH, PFIC11, SEMAK1, SEMAL
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PFIC11
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q24.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lym

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55637216	C>T	Affects	Missense variant, coding sequence variant
rs56367230	G>A,C	Affects	Missense variant, coding sequence variant
rs387907241	C>A,T	Affects	Coding sequence variant, missense variant

Show/Hide all(191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040303	hsa-miR-615-3p	CLASH	23622248
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seq, qRT-PCR, Luciferase reporter assay, Western blot	24725595
MIRT653978	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT653979	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT386120	hsa-miR-4267	HITS-CLIP	23824327
MIRT653977	hsa-miR-3927-5p	HITS-CLIP	23824327
MIRT653976	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653975	hsa-miR-1273f	HITS-CLIP	23824327
MIRT653974	hsa-miR-4534	HITS-CLIP	23824327
MIRT653973	hsa-miR-8082	HITS-CLIP	23824327
MIRT653972	hsa-miR-1289	HITS-CLIP	23824327
MIRT498088	hsa-miR-4294	HITS-CLIP	23824327
MIRT653971	hsa-miR-7977	HITS-CLIP	23824327
MIRT653970	hsa-miR-3198	HITS-CLIP	23824327
MIRT653969	hsa-miR-4309	HITS-CLIP	23824327
MIRT498096	hsa-miR-6507-3p	PAR-CLIP	22291592
MIRT498095	hsa-miR-1264	PAR-CLIP	22291592
MIRT498094	hsa-miR-577	PAR-CLIP	22291592
MIRT498093	hsa-miR-142-5p	PAR-CLIP	22291592
MIRT498092	hsa-miR-5590-3p	PAR-CLIP	22291592
MIRT498091	hsa-miR-4766-5p	PAR-CLIP	22291592
MIRT498090	hsa-miR-635	PAR-CLIP	22291592
MIRT498089	hsa-miR-6774-5p	PAR-CLIP	22291592
MIRT498088	hsa-miR-4294	PAR-CLIP	22291592
MIRT498087	hsa-miR-520a-5p	PAR-CLIP	22291592
MIRT498086	hsa-miR-525-5p	PAR-CLIP	22291592
MIRT498085	hsa-miR-3180-5p	PAR-CLIP	22291592
MIRT492383	hsa-miR-33a-5p	PAR-CLIP	23592263
MIRT492382	hsa-miR-33b-5p	PAR-CLIP	23592263
MIRT492381	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492380	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492379	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492378	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492377	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492376	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492375	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492374	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492373	hsa-miR-323a-3p	PAR-CLIP	23592263
MIRT492372	hsa-miR-320a	PAR-CLIP	23592263
MIRT492371	hsa-miR-320b	PAR-CLIP	23592263
MIRT492370	hsa-miR-320c	PAR-CLIP	23592263
MIRT492369	hsa-miR-320d	PAR-CLIP	23592263
MIRT492368	hsa-miR-4429	PAR-CLIP	23592263
MIRT492367	hsa-miR-3609	PAR-CLIP	23592263
MIRT492366	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT492365	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT492364	hsa-miR-320e	PAR-CLIP	23592263
MIRT492363	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492362	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492361	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492360	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT492359	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT492358	hsa-miR-4461	PAR-CLIP	23592263
MIRT492357	hsa-miR-1253	PAR-CLIP	23592263
MIRT492356	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT492355	hsa-miR-6132	PAR-CLIP	23592263
MIRT492354	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT492353	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT492352	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT492351	hsa-miR-3926	PAR-CLIP	23592263
MIRT386137	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT386141	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT492350	hsa-miR-4477a	PAR-CLIP	23592263
MIRT492349	hsa-miR-580-3p	PAR-CLIP	23592263
MIRT492357	hsa-miR-1253	PAR-CLIP	27292025
MIRT492353	hsa-miR-1909-3p	PAR-CLIP	27292025
MIRT492372	hsa-miR-320a	PAR-CLIP	27292025
MIRT492371	hsa-miR-320b	PAR-CLIP	27292025
MIRT492370	hsa-miR-320c	PAR-CLIP	27292025
MIRT492369	hsa-miR-320d	PAR-CLIP	27292025
MIRT492364	hsa-miR-320e	PAR-CLIP	27292025
MIRT492383	hsa-miR-33a-5p	PAR-CLIP	27292025
MIRT492382	hsa-miR-33b-5p	PAR-CLIP	27292025
MIRT492351	hsa-miR-3926	PAR-CLIP	27292025
MIRT492368	hsa-miR-4429	PAR-CLIP	27292025
MIRT492358	hsa-miR-4461	PAR-CLIP	27292025
MIRT492360	hsa-miR-5197-3p	PAR-CLIP	27292025
MIRT492363	hsa-miR-519a-3p	PAR-CLIP	27292025
MIRT492362	hsa-miR-519b-3p	PAR-CLIP	27292025
MIRT492361	hsa-miR-519c-3p	PAR-CLIP	27292025
MIRT492349	hsa-miR-580-3p	PAR-CLIP	27292025
MIRT492355	hsa-miR-6132	PAR-CLIP	27292025
MIRT492352	hsa-miR-6722-3p	PAR-CLIP	27292025
MIRT386137	hsa-miR-6762-5p	PAR-CLIP	27292025
MIRT492356	hsa-miR-6770-5p	PAR-CLIP	27292025
MIRT492354	hsa-miR-6836-5p	PAR-CLIP	27292025
MIRT386141	hsa-miR-6845-5p	PAR-CLIP	27292025
MIRT653978	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT653979	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT386120	hsa-miR-4267	HITS-CLIP	23824327
MIRT653977	hsa-miR-3927-5p	HITS-CLIP	23824327
MIRT653976	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653975	hsa-miR-1273f	HITS-CLIP	23824327
MIRT653974	hsa-miR-4534	HITS-CLIP	23824327
MIRT653973	hsa-miR-8082	HITS-CLIP	23824327
MIRT653972	hsa-miR-1289	HITS-CLIP	23824327
MIRT498088	hsa-miR-4294	HITS-CLIP	23824327
MIRT653971	hsa-miR-7977	HITS-CLIP	23824327
MIRT653970	hsa-miR-3198	HITS-CLIP	23824327
MIRT653969	hsa-miR-4309	HITS-CLIP	23824327
MIRT498096	hsa-miR-6507-3p	PAR-CLIP	22291592
MIRT498095	hsa-miR-1264	PAR-CLIP	22291592
MIRT498094	hsa-miR-577	PAR-CLIP	22291592
MIRT498093	hsa-miR-142-5p	PAR-CLIP	22291592
MIRT498092	hsa-miR-5590-3p	PAR-CLIP	22291592
MIRT498091	hsa-miR-4766-5p	PAR-CLIP	22291592
MIRT498090	hsa-miR-635	PAR-CLIP	22291592
MIRT498089	hsa-miR-6774-5p	PAR-CLIP	22291592
MIRT498088	hsa-miR-4294	PAR-CLIP	22291592
MIRT498087	hsa-miR-520a-5p	PAR-CLIP	22291592
MIRT498086	hsa-miR-525-5p	PAR-CLIP	22291592
MIRT498085	hsa-miR-3180-5p	PAR-CLIP	22291592
MIRT492383	hsa-miR-33a-5p	PAR-CLIP	23592263
MIRT492382	hsa-miR-33b-5p	PAR-CLIP	23592263
MIRT492381	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492380	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492379	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492378	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492377	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492376	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492375	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492374	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492373	hsa-miR-323a-3p	PAR-CLIP	23592263
MIRT492372	hsa-miR-320a	PAR-CLIP	23592263
MIRT492371	hsa-miR-320b	PAR-CLIP	23592263
MIRT492370	hsa-miR-320c	PAR-CLIP	23592263
MIRT492369	hsa-miR-320d	PAR-CLIP	23592263
MIRT492368	hsa-miR-4429	PAR-CLIP	23592263
MIRT492367	hsa-miR-3609	PAR-CLIP	23592263
MIRT492366	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT492365	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT492364	hsa-miR-320e	PAR-CLIP	23592263
MIRT492363	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492362	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492361	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492360	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT492359	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT492358	hsa-miR-4461	PAR-CLIP	23592263
MIRT492357	hsa-miR-1253	PAR-CLIP	23592263
MIRT492356	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT492355	hsa-miR-6132	PAR-CLIP	23592263
MIRT492354	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT492353	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT492352	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT492351	hsa-miR-3926	PAR-CLIP	23592263
MIRT386137	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT386141	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT492350	hsa-miR-4477a	PAR-CLIP	23592263
MIRT492349	hsa-miR-580-3p	PAR-CLIP	23592263
MIRT1335583	hsa-miR-128	CLIP-seq
MIRT1335584	hsa-miR-1280	CLIP-seq
MIRT1335585	hsa-miR-1972	CLIP-seq
MIRT1335586	hsa-miR-27a	CLIP-seq
MIRT1335587	hsa-miR-27b	CLIP-seq
MIRT1335588	hsa-miR-4286	CLIP-seq
MIRT1335589	hsa-miR-4529-5p	CLIP-seq
MIRT1335590	hsa-miR-4695-5p	CLIP-seq
MIRT1335591	hsa-miR-5096	CLIP-seq
MIRT1335592	hsa-miR-513a-5p	CLIP-seq
MIRT1335593	hsa-miR-765	CLIP-seq
MIRT1335583	hsa-miR-128	CLIP-seq
MIRT1553308	hsa-miR-1909	CLIP-seq
MIRT1335586	hsa-miR-27a	CLIP-seq
MIRT1335587	hsa-miR-27b	CLIP-seq
MIRT1553309	hsa-miR-3202	CLIP-seq
MIRT1553310	hsa-miR-33a	CLIP-seq
MIRT1553311	hsa-miR-33b	CLIP-seq
MIRT1553312	hsa-miR-4252	CLIP-seq
MIRT1553313	hsa-miR-4292	CLIP-seq
MIRT1553314	hsa-miR-4493	CLIP-seq
MIRT1553315	hsa-miR-4533	CLIP-seq
MIRT1553316	hsa-miR-4656	CLIP-seq
MIRT1553317	hsa-miR-4717-5p	CLIP-seq
MIRT1553318	hsa-miR-4753-5p	CLIP-seq
MIRT1335591	hsa-miR-5096	CLIP-seq
MIRT1335592	hsa-miR-513a-5p	CLIP-seq
MIRT1553319	hsa-miR-519a	CLIP-seq
MIRT1553320	hsa-miR-580	CLIP-seq
MIRT2099209	hsa-miR-205	CLIP-seq
MIRT1553313	hsa-miR-4292	CLIP-seq
MIRT2394214	hsa-miR-4419a	CLIP-seq
MIRT2394215	hsa-miR-4510	CLIP-seq
MIRT2432970	hsa-miR-3121-3p	CLIP-seq
MIRT2432971	hsa-miR-3667-3p	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0001755	Process	Neural crest cell migration	IBA	21873635
GO:0001934	Process	Positive regulation of protein phosphorylation	IEA
GO:0005178	Function	Integrin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17474147, 20727575
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	TAS	9721204
GO:0007229	Process	Integrin-mediated signaling pathway	IBA	21873635
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	12879062
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009897	Component	External side of plasma membrane	ISS
GO:0016020	Component	Membrane	HDA	16210410
GO:0021988	Process	Olfactory lobe development	IEA
GO:0030215	Function	Semaphorin receptor binding	IBA	21873635
GO:0030335	Process	Positive regulation of cell migration	IBA	21873635
GO:0031225	Component	Anchored component of membrane	IEA
GO:0045499	Function	Chemorepellent activity	IBA	21873635
GO:0045773	Process	Positive regulation of axon extension	IBA	21873635
GO:0045773	Process	Positive regulation of axon extension	IDA	12879062
GO:0048675	Process	Axon extension	IEA
GO:0048843	Process	Negative regulation of axon extension involved in axon guidance	IBA	21873635
GO:0050727	Process	Regulation of inflammatory response	IBA	21873635
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050919	Process	Negative chemotaxis	IBA	21873635
GO:0060907	Process	Positive regulation of macrophage cytokine production	IBA	21873635
GO:0060907	Process	Positive regulation of macrophage cytokine production	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28327460
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	12879062
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA	21873635

MIM	HGNC	e!Ensembl
607961	10741	ENSG00000138623

Protein

UniProt ID

O75326

Protein name

Semaphorin-7A (CDw108) (JMH blood group antigen) (John-Milton-Hargen human blood group Ag) (Semaphorin-K1) (Sema K1) (Semaphorin-L) (Sema L) (CD antigen CD108)

Protein function

Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylatio

PDB

3NVQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01403	Sema	77 → 472	Sema domain	Family
PF01437	PSI	492 → 550	Plexin repeat	Family
PF13895	Ig_2	545 → 628	Immunoglobulin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal cord, lung, heart, adrenal gland,

Sequence

MTPPPPGRAAPSAPRARVPGPPARLGLPLRLRLLLLLWAAAASAQGHLRSGPRIFAVWKG
HVGQDRVDFGQTEPHTVLFHEPGSSSVWVGGRGKVYLFDFPEGKNASVRTVNIGSTKGSC
LDKRDCENYITLLERRSEGLLACGTNARHPSCWNLVNGTVVPLGEMRGYAPFSPDENSLV
LFEGDEVYSTIRKQEYNGKIPRFRRIRGESELYTSDTVMQNPQFIKATIVHQDQAYDDKI
YYFFREDNPDKNPEAPLNVSRVAQLCRGDQGGESSLSVSKWNTFLKAMLVCSDAATNKNF
NRLQDVFLLPDPSGQWRDTRVYGVFSNPWNYSAVCVYSLGDIDKVFRTSSLKGYHSSLPN
PRPGKCLPDQQPIPTETFQVADRHPEVAQRVEPMGPLKTPLFHSKYHYQKVAVHRMQASH
GETFHVLYLTTDRGTIHKVVEPGEQEHSFAFNIMEIQPFRRAAAIQTMSLDAERRKLYVS
SQWEVSQVPLDLCEVYGGGCHGCLMSRDPYCGWDQGRCISIYSSERSVLQSINPAEPHKE
CPNPKPDKAPLQKVSLAPNSRYYLSCPMESRHATYSWRHKENVEQSCEPGHQSPNCILFI
ENLTAQQYGHYFCEAQEGSYFREAQHWQLLPEDGIMAEHLLGHACALAASLWLGVLPTLT
LGLLVH

Sequence length

666

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		Other semaphorin interactions

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Hypertension	Hypertension			GWAS

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	37543671
Arthritis	Associate	31394943
Arthritis Rheumatoid	Associate	16778393
Asthma	Associate	24333536, 38022556
Atherosclerosis	Associate	31990411
Carcinoma Renal Cell	Associate	35955933
Colorectal Neoplasms	Associate	38092774
Conjunctivitis Allergic	Associate	24368924
Cytokine Release Syndrome	Associate	34826456
Exanthema	Associate	31394943
Fibrosis	Associate	24333536, 38022556
Gaucher Disease	Inhibit	31990411
Hematologic Diseases	Associate	31394943
Hemoglobinuria Paroxysmal	Inhibit	1372190
Hypogonadism	Associate	30098700
Inflammation	Associate	31394943, 31990411, 37958549
Kallmann Syndrome	Associate	31650878
Kidney Diseases	Associate	31394943
Lupus Erythematosus Systemic	Associate	31394943
Mouth Neoplasms	Associate	26378920
Neoplasm Metastasis	Associate	26378920
Neoplasms	Associate	26378920, 35955933
Neurosyphilis	Associate	38380496
Schizophrenia	Associate	37661009
Squamous Cell Carcinoma of Head and Neck	Associate	26378920
Stomach Neoplasms	Associate	33316777

SEMA7A (semaphorin 7A (JohnMiltonHagen blood group))