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EPB42 (erythrocyte membrane protein band 4.2)
Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2038
Gene nameGene Name - the full gene name approved by the HGNC.
Erythrocyte membrane protein band 4.2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EPB42
SynonymsGene synonyms aliases
PA, SPH5
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.2
SummarySummary of gene provided in NCBI Entrez Gene.
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with r
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs115998465 C>A,G Pathogenic Missense variant, coding sequence variant, stop gained
rs121917734 C>T Pathogenic Missense variant, coding sequence variant
rs143682977 C>A,G Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs266257354 C>- Pathogenic Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs266257355 C>T Pathogenic Splice donor variant
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IBA 21873635
GO:0005200 Function Structural constituent of cytoskeleton TAS 1350227
GO:0005515 Function Protein binding IPI 12646258, 12970870, 32814053
GO:0005524 Function ATP binding TAS 8608138
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID P16452
Protein name Protein 4.2 (P4.2) (Erythrocyte membrane protein band 4.2) (Erythrocyte protein 4.2)
Protein function Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane.
PDB 7TVZ , 7TW0 , 7TW1 , 7TW3 , 7TW5 , 7TW6 , 7UZS , 7V0K , 7V0Q , 8CS9 , 8CSL , 8CSW , 8CTE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00868 Transglut_N
4 → 124
Transglutaminase family
 Domain
PF01841 Transglut_core
224 → 351
Transglutaminase-like superfamily
 Family
PF00927 Transglut_C
475 → 580
Transglutaminase family, C-terminal ig like domain
 Domain
PF00927 Transglut_C
588 → 686
Transglutaminase family, C-terminal ig like domain
 Domain
Sequence
Sequence length 691
Interactions View interactions
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Hemolytic, Anemia, hereditary spherocytic hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 1558976, 7772513, 23664421
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Elliptocytosis Elliptocytosis, Hereditary rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564 7772513, 1558976
Hereditary spherocytosis Hereditary spherocytosis rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs754614154, rs266257354, rs121917734, rs266257355, rs115998465, rs387906566, rs121912741, rs121912742, rs56361140, rs121912750, rs28931584, rs28931585, rs121912755, rs143682977, rs786204766, rs200386310, rs1553234309, rs1555366607, rs1555366592, rs1553232007, rs1554522035, rs777701149, rs1554567249, rs1554578304, rs1554627073, rs1555367359, rs1555367789, rs150471537, rs1555369657, rs1555370967, rs866727908, rs1555596072, rs1555596165, rs1555596757, rs1586144223, rs1563502820, rs1566754467, rs377659326, rs1594773586, rs1586072383, rs750820522, rs1586145051, rs1594767593, rs1586114714, rs1345709572 23664421
Unknown
Disease name Disease term dbSNP ID References
Fibrinogen deficiency Fibrinogen Deficiency
Gout Gout

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