semaphorin 7A (JohnMiltonHagen blood group)

Summary
Gene Symbol
  • SEMA7A
Aliases
  • CD108
  • H-Sema K1
  • H-Sema-L
  • John Milton Hagen blood group
Organism
Homo sapiens (human)
External Links
NCBI Gene
8482
HGNC
10741
KEGG Gene ID
hsa:8482
PubChem
8482
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Developmental protein
  • Differentiation
  • Disease variant
  • Disulfide bond
  • GPI-anchor
  • Glycoprotein
  • Immunoglobulin domain
  • Inflammatory response
  • Intrahepatic cholestasis
  • Membrane
  • Methylation
  • Neurogenesis
  • Proteomics identification
  • Reference proteome
  • Signal
Proteins
Displaying all 3 entries
UniProt Protein Name
F5GYX3
O75326
  • CDw108
  • JMH blood group antigen
  • John-Milton-Hargen human blood group Ag
  • Semaphorin-K1
  • Semaphorin-L
B3KMH6
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K06529
Name
semaphorin 7
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 87 in total
DO ID Disease Name Source
DOID:0090070 hypogonadotropic hypogonadism
DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia
DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia
DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia
DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia
DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia
DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia
DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia
DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia
DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000989 Pruritus
HP:0002240 Hepatomegaly
HP:0003593 Infantile onset
HP:0012202 Increased serum bile acid concentration
Displaying 1 entry
Disease ID Disease Name
OMIM:619874
  • cholestasis, progressive familial intrahepatic, 11

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024