Human (GRCh38.p14)
Description

melanophilin [Source:HGNC Symbol;Acc:HGNC:29643]

Gene Synonyms

EXOPHILIN-3, L(1)-3RK, L1RK3, LN, SLAC-2A, SLAC2-A

Location

Chromosome 2: 237,485,428-237,555,322 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 64 transcripts (splice variants), 262 orthologues, 2 paralogues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000264605.8MLPH-2013744600aaENSP00000264605.3
 
Protein coding
CCDS2518Q9BV36-1 NM_024101.7MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS ALT2TSL:1
ENST00000872925.1MLPH-2243727600aaENSP00000542984.1
 
Protein coding
CCDS2518--GENCODE BasicAPPRIS ALT2
ENST00000951127.1MLPH-2403710532aaENSP00000621186.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000872926.1MLPH-2253396532aaENSP00000542985.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000872927.1MLPH-2263335520aaENSP00000542986.1
 
Protein coding
--GENCODE Basic
ENST00000951129.1MLPH-2422944405aaENSP00000621188.1
 
Protein coding
--GENCODE Basic
ENST00000951133.1MLPH-2462604600aaENSP00000621192.1
 
Protein coding
CCDS2518--GENCODE BasicAPPRIS ALT2
ENST00000951132.1MLPH-2452570588aaENSP00000621191.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000872928.1MLPH-2272523572aaENSP00000542987.1
 
Protein coding
CCDS42836--GENCODE BasicAPPRIS P2
ENST00000872932.1MLPH-2312474616aaENSP00000542991.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000951136.1MLPH-2492463614aaENSP00000621195.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000951150.1MLPH-2632460644aaENSP00000621209.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951143.1MLPH-2562445616aaENSP00000621202.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000951135.1MLPH-2482435572aaENSP00000621194.1
 
Protein coding
CCDS42836--GENCODE BasicAPPRIS P2
ENST00000951130.1MLPH-2432408520aaENSP00000621189.1
 
Protein coding
--GENCODE Basic
ENST00000951134.1MLPH-2472399532aaENSP00000621193.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000872934.1MLPH-2332380588aaENSP00000542993.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000872929.1MLPH-2282372520aaENSP00000542988.1
 
Protein coding
--GENCODE Basic
ENST00000951128.1MLPH-2412362572aaENSP00000621187.1
 
Protein coding
CCDS42836--GENCODE BasicAPPRIS P2
ENST00000872935.1MLPH-2342359586aaENSP00000542994.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951146.1MLPH-2592342572aaENSP00000621205.1
 
Protein coding
CCDS42836--GENCODE PrimaryGENCODE BasicAPPRIS P2
ENST00000951140.1MLPH-2532338576aaENSP00000621199.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000338530.8MLPH-2022332572aaENSP00000341845.4
 
Protein coding
CCDS42836Q9BV36-2 -GENCODE BasicAPPRIS P2TSL:1
ENST00000872931.1MLPH-2302319560aaENSP00000542990.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951141.1MLPH-2542315572aaENSP00000621200.1
 
Protein coding
CCDS42836--GENCODE BasicAPPRIS P2
ENST00000872933.1MLPH-2322308564aaENSP00000542992.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000872930.1MLPH-2292299572aaENSP00000542989.1
 
Protein coding
CCDS42836--GENCODE BasicAPPRIS P2
ENST00000951138.1MLPH-2512295572aaENSP00000621197.1
 
Protein coding
CCDS42836--GENCODE BasicAPPRIS P2
ENST00000951149.1MLPH-2622295581aaENSP00000621208.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000951148.1MLPH-2612293576aaENSP00000621207.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000951139.1MLPH-2522256546aaENSP00000621198.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951131.1MLPH-2442251480aaENSP00000621190.1
 
Protein coding
CCDS63173--GENCODE Basic
ENST00000951145.1MLPH-2582238548aaENSP00000621204.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951137.1MLPH-2502222534aaENSP00000621196.1
 
Protein coding
--GENCODE Basic
ENST00000951142.1MLPH-2552207536aaENSP00000621201.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000951151.1MLPH-2642196570aaENSP00000621210.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000410032.5MLPH-2042171457aaENSP00000386338.1
 
Protein coding
CCDS63172Q9BV36-5 -GENCODE BasicAPPRIS ALT2TSL:2
ENST00000951147.1MLPH-2602154524aaENSP00000621206.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951144.1MLPH-2572096500aaENSP00000621203.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000409373.5MLPH-2032031480aaENSP00000386780.1
 
Protein coding
CCDS63173Q9BV36-3 -GENCODE BasicTSL:1
ENST00000917529.1MLPH-2391972457aaENSP00000587588.1
 
Protein coding
CCDS63172--GENCODE BasicAPPRIS ALT2
ENST00000872937.1MLPH-2361902440aaENSP00000542996.1
 
Protein coding
--GENCODE Basic
ENST00000917527.1MLPH-2371875417aaENSP00000587586.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000872936.1MLPH-2351717375aaENSP00000542995.1
 
Protein coding
--GENCODE Basic
ENST00000917528.1MLPH-2381698365aaENSP00000587587.1
 
Protein coding
--GENCODE Basic
ENST00000437893.5MLPH-2111447360aaENSP00000412438.1
 
Protein coding
H7C3K9 -TSL:5CDS 5' incomplete
ENST00000415753.5MLPH-205841236aaENSP00000409897.1
 
Protein coding
H7C371 -TSL:2CDS 5' incomplete
ENST00000422695.5MLPH-206744131aaENSP00000409170.1
 
Protein coding
C9JKV5 -TSL:4CDS 3' incomplete
ENST00000434770.1MLPH-209726145aaENSP00000399081.1
 
Protein coding
H7C190 -TSL:3CDS 5' incomplete
ENST00000436965.5MLPH-210610203aaENSP00000405337.1
 
Protein coding
H7C2D8 -TSL:3CDS 5' and 3' incomplete
ENST00000429898.5MLPH-20756570aaENSP00000403909.1
 
Protein coding
C9JI01 -TSL:4CDS 3' incomplete
ENST00000432475.5MLPH-208863199aaENSP00000393010.1
 
Nonsense mediated decay
H7C052 -TSL:3CDS 5' incomplete
ENST00000468178.5MLPH-2131979No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000485956.1MLPH-220707No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000477222.5MLPH-215596No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000477501.5MLPH-217581No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000495439.5MLPH-2232341No protein-
 
Retained intron
--TSL:2
ENST00000464123.5MLPH-2122183No protein-
 
Retained intron
--TSL:1
ENST00000478712.5MLPH-2181371No protein-
 
Retained intron
--TSL:5
ENST00000469619.5MLPH-2141153No protein-
 
Retained intron
--TSL:2
ENST00000494110.5MLPH-222883No protein-
 
Retained intron
--TSL:5
ENST00000477457.1MLPH-216716No protein-
 
Retained intron
--TSL:2
ENST00000489967.1MLPH-221657No protein-
 
Retained intron
--TSL:2
ENST00000482528.1MLPH-219439No protein-
 
Retained intron
--TSL:3